HEMA
MCID: HMP029
MIFTS: 71

Hemophilia a (HEMA)

Categories: Blood diseases, Genetic diseases, Immune diseases, Muscle diseases, Neuronal diseases, Rare diseases
Data Licensing
For inquiries, contact:

Aliases & Classifications for Hemophilia a

MalaCards integrated aliases for Hemophilia a:

Name: Hemophilia a 56 24 19 57 74 72 12 53 5 38 70
Factor Viii Deficiency 24 19 72 70
Mild Hemophilia a 57 28 5
Hemophilia, Classic 56 19
Factor 8 Deficiency 19 72
Severe Hemophilia a 57 28
Classic Hemophilia 19 72
Haemophilia a 19 33
Hema 56 72
Ahg - [antihaemophilic Globulin] Deficiency Disease 33
Severe Hereditary Factor Viii Deficiency Disease 70
Mild Hereditary Factor Viii Deficiency Disease 70
Ahg - [antihaemophilic Globulin] Deficiency 33
Moderate Congenital Factor Viii Deficiency 57
Bleeding Disorder in Hemophilia a Carriers 57
Severe Congenital Factor Viii Deficiency 57
Mild Congenital Factor Viii Deficiency 57
Antihaemophilic Globulin Deficiency 33
Moderate Congenital F8 Deficiency 57
Congenital Factor Viii Deficiency 57
Sex-Linked Factor Viii Deficiency 33
Congenital Factor Viii Disorder 33
Severe Congenital F8 Deficiency 57
Mild Congenital F8 Deficiency 57
Congenital Fviii Deficiency 57
Hemophilia a, Congenital 19
Congenital F8 Deficiency 57
Hereditary Haemophilia 33
Moderate Hemophilia a 57
Classical Hemophilia 19
Familial Haemophilia 33
Classic Haemophilia 33
Haemophilia Nos 33
Subhaemophilia 33
Haemophilia 33
Hem a 19

Inheritence:

Hemophilia a: X-linked recessive 57 56
Mild Hemophilia a: X-linked recessive 57
Severe Hemophilia a: X-linked recessive 57
Moderate Hemophilia a: X-linked recessive 57
Bleeding Disorder in Hemophilia a Carriers: X-linked recessive 57

Characteristics:


Prevelance:

1-5/10000 (France, Iceland, New Zealand, United Kingdom) 1-9/100000 (United States, Europe, Africa, Albania, Algeria, Argentina, Armenia, Australia, Austria, Azerbaijan, Belarus, Belgium, Belize, Bosnia and Herzegovina, Brazil, Bulgaria, Canada, Chile, Colombia, Costa rica, Croatia, Cuba, Cyprus, Czech Republic, Denmark, Dominican Republic, Ecuador, Egypt, El Salvador, Estonia, Finland, Germany, Greece, Guatemala, Honduras, Hungary, Iran, Islamic Republic of, Iraq, Ireland, Israel, Italy, Jamaica, Japan, Jordan, Kenya, Korea, Republic of, Latvia, Lebanon, Lithuania, Luxembourg, Macedonia, the former Yugoslav Republic of, Malaysia, Malta, Mexico, Moldova, Republic of, Mongolia, Morocco, Netherlands, Nicaragua, Norway, Palestinian Territory, occupied, Panama, Paraguay, Peru, Poland, Portugal, Qatar, Romania, Russian Federation, Serbia, Singapore, Slovakia, Slovenia, South Africa, Spain, Sweden, Switzerland, Thailand, Tunisia, Turkey, Uruguay, Uzbekistan, Venezuela, Viet Nam, Zimbabwe, Georgia) 1-9/1000000 (Bangladesh, Bolivia, China, Eritrea, India, Indonesia, Lesotho, Nepal, Pakistan, Philippines, Saudi Arabia, Senegal, Sierra leone, Sri Lanka, Sudan, Ukraine) <1/1000000 (Nigeria, Togo) 57

Age Of Onset:

Hemophilia a: Childhood,Infancy,Neonatal 57
Mild Hemophilia a: Infancy,Neonatal 57
Severe Hemophilia a: Infancy,Neonatal 57
Moderate Hemophilia a: Infancy,Neonatal 57

Age Of Death:

any age 57

OMIM®:

56 (Updated 06-Jun-2022)
Miscellaneous:
persistent bleeding after trauma
partial factor viii deficiency in heterozygous carriers


GeneReviews:

24
Penetrance All males with an f8 pathogenic variant will be affected and will have approximately the same severity of disease as other affected males in the family. however, other genetic and environmental effects may modify the clinical severity to some extent....

Classifications:

Orphanet: 57  
Rare haematological diseases


Summaries for Hemophilia a

GARD : 19 Hemophilia A is an inherited bleeding disorder in which the blood does not clot normally. People with hemophilia A will bleed more than normal after an injury, surgery, or dental procedure. This disorder can be severe, moderate, or mild. In severe cases, heavy bleeding occurs after minor injury or even when there is no injury (spontaneous bleeding). Bleeding into the joints, muscles, brain, or organs can cause pain and other serious complications. In milder forms, there is no spontaneous bleeding, and the disorder might only be diagnosed after a surgery or serious injury. Hemophilia A is caused by having low levels of a protein called factor VIII. Factor VIII is needed to form blood clots. The disorder is inherited in an X-linked recessive manner and is caused by changes ( mutations ) in the F8 gene. The diagnosis of hemophilia A is made through clinical symptoms and specific laboratory tests to measure the amount of clotting factors in the blood. The main treatment is replacement therapy, during which clotting factor VIII is dripped or injected slowly into a vein. Hemophilia A mainly affects males. With treatment, most people with this disorder do well. Some people with severe hemophilia A may have a shortened lifespan due to the presence of other health conditions and rare complications of the disorder.

MalaCards based summary : Hemophilia a, also known as factor viii deficiency, is related to acquired hemophilia a and von willebrand disease, type 2. An important gene associated with Hemophilia a is F8 (Coagulation Factor VIII), and among its related pathways/superpathways are Response to elevated platelet cytosolic Ca2+ and Collagen chain trimerization. The drugs Anti-inhibitor coagulant complex and Triamcinolone have been mentioned in the context of this disorder. Affiliated tissues include liver, brain and bone, and related phenotypes are arthralgia and joint swelling

Orphanet 57 Hemophilia a : A rare genetic hematological disorder characterized by spontaneous or prolonged hemorrhages due to factor VIII deficiency.

Severe hemophilia a : A severe form of hemophilia A characterized by a large deficiency of factor VIII (biological activity <1 IU/dL) leading to frequent spontaneous hemorrhage and abnormal bleeding as a result of minor injuries, or following trauma, surgery or tooth extraction. It primarily affects males but may also be observed in female carriers of disease-causing mutations.

Moderate hemophilia a : A moderately severe form of hemophilia A characterized by factor VIII deficiency (biological activity between 1 and 5 IU/dL) leading to abnormal bleeding as a result of minor injuries, or following trauma, surgery or tooth extraction. Spontaneous hemorrhages are rare. The condition primarily affects males but may also be observed in female carriers of disease-causing mutations.

Mild hemophilia a : A mild form of hemophilia A characterized by a small deficiency of factor VIII (biological activity between 5 and 40 IU/dL) leading to abnormal bleeding as a result of minor injuries or following surgery or tooth extraction. Spontaneous hemorrhages do not occur. Patients may be also labeled as having mild hemophilia A if they have a FVIII >40 IU/dL and a DNA change in the F8 gene and one of the following: (i) a family member with the same DNA change and FVIII of <40 IU/dL, and the DNA change is found in <1% of the population; and (ii) the international databases list the DNA change as being associated with hemophilia A and <40 IU/dL FVIII. The condition may affect males and female carriers of disease-causing mutations.

Bleeding disorder in hemophilia a carriers : A rare bleeding disorder in association with carrier mutations in the F8 gene (Xq28) encoding coagulation factor VIII (FVIII), with a biological activity of FVIII ≥40 IU/dL and characterized clinically by abnormal bleeding as a result of minor injuries or following trauma, surgery or tooth extraction. Spontaneous hemorrhages may occur occasionally. Heavy menstrual bleeding is the most frequent type of bleed in the carriers.

OMIM® : 56 Hemophilia A (HEMA) is an X-linked recessive bleeding disorder caused by a deficiency in the activity of coagulation factor VIII. The disorder is clinically heterogeneous with variable severity, depending on the plasma levels of coagulation factor VIII: mild, with levels 6 to 30% of normal; moderate, with levels 2 to 5% of normal; and severe, with levels less than 1% of normal. Patients with mild hemophilia usually bleed excessively only after trauma or surgery, whereas those with severe hemophilia have an annual average of 20 to 30 episodes of spontaneous or excessive bleeding after minor trauma, particularly into joints and muscles. These symptoms differ substantially from those of bleeding disorders due to platelet defects or von Willebrand disease (193400), in which mucosal bleeding predominates (review by Mannucci and Tuddenham, 2001). (306700) (Updated 06-Jun-2022)

UniProtKB/Swiss-Prot : 72 A disorder of blood coagulation characterized by a permanent tendency to hemorrhage. About 50% of patients have severe hemophilia resulting in frequent spontaneous bleeding into joints, muscles and internal organs. Less severe forms are characterized by bleeding after trauma or surgery.

Wikipedia : 74 Haemophilia A (or hemophilia A) is a genetic deficiency in clotting factor VIII, which causes increased... more...

GeneReviews: NBK1404

Related Diseases for Hemophilia a

Diseases in the Hemophilia family:

Hemophilia a Hemophilia B
Acquired Hemophilia Acquired Hemophilia a
Acquired Hemophilia B

Diseases related to Hemophilia a via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 979, show less)
# Related Disease Score Top Affiliating Genes
1 acquired hemophilia a 31.9 F9 F8A1 F8 F3
2 von willebrand disease, type 2 31.9 VWF F8
3 von willebrand disease, type 3 31.8 VWF F8
4 von willebrand disease, type 1 31.8 VWF F8
5 hemophilia 31.3 VWF LOC106146152 LOC106146151 LOC106146150 LOC106146144 LOC106146143
6 acquired hemophilia 30.6 F9 F8A1 F8 F3 F10
7 hemophilia b 30.5 VWF F9 F8 F7 F3 F2
8 factor viii deficiency 30.4 VWF FUNDC2 F9 F8A1 F8 F7
9 purpura 30.3 VWF F3 F2
10 esophageal varix 30.3 F3 F2
11 thrombophilia due to thrombin defect 30.1 F8 F3 F2 F10
12 thrombasthenia 30.1 F3 F2
13 von willebrand's disease 30.0 VWF F9 F8 F7 F3 F2
14 compartment syndrome 30.0 F8 F7 F3 F2
15 ceroid lipofuscinosis, neuronal, 5 30.0 VWF F7
16 x-linked recessive disease 29.9 F9 F8 F3
17 aortic valve insufficiency 29.8 VWF F3 F2
18 moyamoya disease 1 29.8 VWF F3 F2
19 portal hypertension 29.8 VWF F3 F2
20 hemopneumothorax 29.8 F3 F2
21 post-thrombotic syndrome 29.8 F8 F2
22 bilirubin metabolic disorder 29.7 F9 F3 F2
23 hemopericardium 29.7 F3 F2
24 vascular disease 29.7 VWF F8 F3 F2
25 intermediate coronary syndrome 29.7 VWF F3
26 prothrombin deficiency, congenital 29.7 F2 F10
27 carotid artery thrombosis 29.7 VWF F3 F10
28 femoral neuropathy 29.7 F3 F2
29 retinitis pigmentosa 34 29.7 F7 F10
30 ankylosing spondylitis 1 29.6 F3 F2
31 papilledema 29.6 F3 F2
32 angiodysplasia 29.6 VWF F8 F3
33 thrombocytopenia 29.6 VWF F9 F8 F3 F2 F10
34 cardiac tamponade 29.6 F9 F8 F3 F2
35 hepatic coma 29.6 F3 F2
36 acute myocardial infarction 29.5 VWF F7 F3
37 factor xii deficiency 29.5 VWF F9 F7 F3
38 intracranial hypertension 29.5 F9 F3 F2
39 hypothyroidism 29.4 VWF F8 F3 F2
40 hemarthrosis 29.4 VWF F9 F8 F7 F3 F2
41 hemolytic-uremic syndrome 29.4 VWF F3 F2
42 portal vein thrombosis 29.4 VWF F8 F7 F2
43 peripheral vascular disease 29.4 VWF F3 F2
44 vitamin k deficiency bleeding 29.4 F9 F8 F7 F3 F2
45 disseminated intravascular coagulation 29.4 VWF F9 F7 F3 F2
46 pulmonary embolism 29.4 VWF F9 F8 F3 F2 F10
47 venous insufficiency 29.4 VWF F2
48 essential thrombocythemia 29.3 VWF F3 F2
49 atrial fibrillation 29.3 VWF F9 F2 F10
50 hemorrhagic disease 29.2 VWF F9 F8 F7 F3 F2
51 stroke, ischemic 29.2 VWF F7 F3 F2 F10
52 qualitative platelet defect 29.2 VWF F7 F3 F2
53 active peptic ulcer disease 29.2 VWF F7 F3 F2
54 cerebrovascular disease 29.2 VWF F8 F7 F2
55 thrombophlebitis 29.1 F8 F7 F3 F2
56 thrombophilia due to activated protein c resistance 29.1 VWF F9 F8 F3 F2 F10
57 factor vii deficiency 29.0 F9 F8 F7 F3 F2 F10
58 acquired von willebrand syndrome 29.0 VWF F8 F7 F3 F2
59 thrombosis 29.0 VWF F9 F8 F7 F3 F2
60 cardiovascular system disease 29.0 VWF F8 F7 F3
61 antiphospholipid syndrome 29.0 VWF F3 F2 F10
62 blood platelet disease 29.0 VWF F8 F7 F3 F2 F10
63 lipoprotein quantitative trait locus 29.0 VWF F7 F3 F2 F10
64 intracranial thrombosis 28.9 VWF F8 F3 F2 F10
65 myocardial infarction 28.7 VWF F9 F8 F7 F3 F2
66 blood coagulation disease 28.7 VWF F9 F8 F7 F3 F2
67 thrombophilia 28.7 VWF F9 F8 F7 F3 F2
68 afibrinogenemia, congenital 28.6 VWF F8 F7 F3 F2 F10
69 glanzmann thrombasthenia 1 28.5 VWF F9 F8 F7 F3 F2
70 factor xi deficiency 28.4 VWF F9 F8 F7 F3 F2
71 prothrombin deficiency 28.4 F9 F8 F7 F3 F2 F10
72 factor x deficiency 28.4 VWF F9 F7 F3 F2 F10
73 factor v deficiency 28.2 VWF F9 F8 F7 F3 F2
74 immunodeficiency 32a 11.6
75 multiple sclerosis-ichthyosis-factor viii deficiency syndrome 11.5
76 hemophilia a with vascular abnormality 11.3
77 2-hydroxyethyl methacrylate sensitization 11.0
78 arthropathy 10.7
79 osteoarthritis 10.6
80 autoimmune disease 10.5
81 factor v and factor viii, combined deficiency of, 2 10.5
82 rare hemorrhagic disorder 10.5
83 hemophilic arthropathy 10.4
84 primary agammaglobulinemia 10.4
85 acquired immunodeficiency syndrome 10.3
86 immune deficiency disease 10.3
87 turner syndrome 10.3
88 thyroid angiosarcoma 10.3 VWF F8
89 lymphangiosarcoma 10.3 VWF F8
90 acquired factor v deficiency 10.3 F9 F2
91 pemphigoid 10.3
92 bullous pemphigoid 10.3
93 bone mineral density quantitative trait locus 3 10.2
94 hepatitis c 10.2
95 thrombotic microangiopathy 10.2
96 systemic lupus erythematosus 10.2
97 thrombocytopenia due to platelet alloimmunization 10.2
98 lupus erythematosus 10.2
99 thrombophilia, x-linked, due to factor ix defect 10.2
100 liver cirrhosis 10.2
101 viral infectious disease 10.2
102 medulloadrenal hyperfunction 10.1 VWF F3
103 thrombocytopenic purpura, autoimmune 10.1
104 varicose veins 10.1
105 human immunodeficiency virus type 1 10.1
106 hepatitis c virus 10.1
107 hydrocephalus 10.1
108 hepatitis 10.1
109 synovitis 10.1
110 muscular dystrophy 10.1
111 sneddon syndrome 10.1 F9 F8 F2
112 retinal artery occlusion 10.1 F9 F8 F2
113 achenbach syndrome 10.1 F3 F2
114 renal pelvis squamous cell carcinoma 10.1 F3 F2
115 emphysematous cholecystitis 10.1 F3 F2
116 leech infestation 10.1 F3 F2
117 giant hemangioma 10.1 F3 F2
118 waterhouse-friderichsen syndrome 10.1 F3 F2
119 cerebral falx meningioma 10.1 F3 F2
120 cavernous sinus thrombosis 10.1 F3 F2
121 epidural abscess 10.1 F3 F2
122 pulmonary embolism and infarction 10.1 F3 F2
123 acute pulmonary heart disease 10.1 F3 F2
124 autosomal recessive cerebellar ataxia 10.1
125 hepatic infarction 10.1 F3 F2
126 lemierre's syndrome 10.1 F3 F2
127 acute cor pulmonale 10.1 F3 F2
128 systemic lupus erythematosus 1 10.1
129 severe combined immunodeficiency 10.1
130 thalassemia 10.1
131 gastric hemangioma 10.1 F3 F2
132 mediastinitis 10.1 F3 F2
133 non-severe covid-19 10.1 F3 F2
134 osteoporosis 10.1
135 bone mineral density quantitative trait locus 8 10.1
136 bone mineral density quantitative trait locus 15 10.1
137 adhesive otitis media 10.1 F9 F7
138 cerebral sinovenous thrombosis 10.1 F3 F2
139 intracranial hypotension 10.1 F3 F2
140 intracranial embolism 10.1 F3 F2
141 branch retinal artery occlusion 10.1 F3 F2
142 splenic infarction 10.1 F3 F2
143 heparin-induced thrombocytopenia 10.1 F3 F2
144 pituitary adenoma 5, multiple types 10.1 F3 F2
145 hantavirus pulmonary syndrome 10.1 F3 F2
146 parametritis 10.1 F3 F2
147 atherosclerosis susceptibility 10.1
148 cardiofaciocutaneous syndrome 1 10.1
149 inflammatory bowel disease 1 10.1
150 rhabdomyosarcoma 2 10.1
151 hemorrhage, intracerebral 10.1
152 tatton-brown-rahman syndrome 10.1
153 deficiency anemia 10.1
154 pneumocystosis 10.1
155 pleural empyema 10.1
156 pancreatitis 10.1
157 hemolytic anemia 10.1
158 ulcerative colitis 10.1
159 cytokine deficiency 10.1
160 indian tick typhus 10.1 F3 F2
161 analbuminemia 10.1 F3 F2
162 coarctation of aorta 10.0
163 factor v and factor viii, combined deficiency of, 1 10.0
164 open-angle glaucoma 10.0
165 allergic disease 10.0
166 reading disorder 10.0
167 fetal anticonvulsant syndrome 10.0
168 anuria 10.0 F3 F2
169 nonbacterial thrombotic endocarditis 10.0 F3 F2
170 cholesterol embolism 10.0 F7 F2
171 cecal disease 10.0 F3 F2
172 tricuspid valve disease 10.0 F3 F2
173 tricuspid valve insufficiency 10.0 F3 F2
174 antithrombin iii deficiency 10.0 F2 F10
175 bladder cancer 10.0
176 myeloma, multiple 10.0
177 anemia, nonspherocytic hemolytic, due to g6pd deficiency 10.0
178 muscular dystrophy, duchenne type 10.0
179 aplastic anemia 10.0
180 disease by infectious agent 10.0
181 covid-19 10.0
182 acute necrotizing pancreatitis 10.0
183 duodenal ulcer 10.0
184 severe acute respiratory syndrome 10.0
185 kidney disease 10.0
186 paraplegia 10.0
187 47 xxx syndrome 10.0
188 49, xxxxy syndrome 10.0
189 49,xxxxx syndrome 10.0
190 chronic pain 10.0
191 49,xyyyy syndrome 10.0
192 purpura fulminans 10.0 F3 F2
193 intracranial sinus thrombosis 10.0 F8 F3 F2
194 sagittal sinus thrombosis 10.0 F8 F3 F2
195 retinal vascular occlusion 10.0 F3 F2
196 aspiration pneumonia 10.0 F3 F2
197 body mass index quantitative trait locus 11 10.0
198 body mass index quantitative trait locus 9 10.0
199 body mass index quantitative trait locus 8 10.0
200 body mass index quantitative trait locus 4 10.0
201 body mass index quantitative trait locus 10 10.0
202 body mass index quantitative trait locus 7 10.0
203 body mass index quantitative trait locus 12 10.0
204 body mass index quantitative trait locus 14 10.0
205 body mass index quantitative trait locus 18 10.0
206 body mass index quantitative trait locus 19 10.0
207 body mass index quantitative trait locus 20 10.0
208 coronary thrombosis 10.0 VWF F3
209 peripheral vertigo 10.0 F3 F2
210 body mass index quantitative trait locus 1 10.0
211 48,xxxy syndrome 10.0
212 48,xxyy syndrome 10.0
213 48,xyyy 10.0
214 spotted fever 10.0 VWF F2
215 cortical blindness 10.0 F3 F2
216 hair whorl 10.0
217 celiac disease 1 10.0
218 mental retardation, skeletal dysplasia, and abducens palsy 10.0
219 astigmatism 10.0
220 short stature, onychodysplasia, facial dysmorphism, and hypotrichosis 10.0
221 global developmental delay, lung cysts, overgrowth, and wilms tumor 10.0
222 urinary tract infection 10.0
223 uveitis 10.0
224 fungal infectious disease 10.0
225 dermatitis 10.0
226 contact dermatitis 10.0
227 endophthalmitis 10.0
228 ovarian small cell carcinoma 10.0
229 mild hyperphenylalaninemia 10.0
230 colorectal cancer 10.0
231 leukemia, chronic lymphocytic 10.0
232 nephrolithiasis, calcium oxalate 10.0
233 prostate cancer 10.0
234 anemia, autoimmune hemolytic 10.0
235 camptodactyly-arthropathy-coxa vara-pericarditis syndrome 10.0
236 lymphoma, hodgkin, classic 10.0
237 myasthenia gravis 10.0
238 sickle cell anemia 10.0
239 beta-thalassemia 10.0
240 bacteremia 2 10.0
241 angina pectoris 10.0
242 lymphoma 10.0
243 colitis 10.0
244 cardiac arrest 10.0
245 respiratory failure 10.0
246 arteriovenous malformation 10.0
247 tetanus 10.0
248 pancytopenia 10.0
249 heart septal defect 10.0
250 viral hepatitis 10.0
251 colonic benign neoplasm 10.0
252 acute kidney failure 10.0
253 teratoma 10.0
254 pneumonia 10.0
255 connective tissue disease 10.0
256 chronic kidney disease 10.0
257 pemphigus 10.0
258 pik3ca-related overgrowth spectrum 10.0
259 posttransplant acute limbic encephalitis 10.0
260 pik3ca-related overgrowth syndrome 10.0
261 rare coagulation disorder 10.0
262 impotence 9.9
263 dental caries 9.9
264 papillary adenofibroma 9.9 VWF F3 F2
265 splenic sequestration 9.9 VWF F3 F2
266 pericardium disease 9.9 F3 F2
267 primary thrombocytopenia 9.9 VWF F3 F2
268 mitral valve stenosis 9.9 VWF F3 F2
269 endocardium disease 9.9 VWF F3 F2
270 hepatic vascular disease 9.9 VWF F3 F2
271 autoimmune disease of cardiovascular system 9.9 VWF F3 F2
272 blood protein disease 9.9 VWF F3 F2
273 placental insufficiency 9.9 VWF F3 F2
274 hemangioma 9.9 VWF F3 F2
275 coumarin resistance 9.9 F9 F7 F2
276 arteries, anomalies of 9.9
277 glioma susceptibility 1 9.9
278 scleroderma, familial progressive 9.9
279 thoracoabdominal syndrome 9.9
280 late-onset retinal degeneration 9.9
281 hyperlipoproteinemia, type iii 9.9
282 diffuse large b-cell lymphoma 9.9
283 pertussis 9.9
284 diphtheria 9.9
285 familial hyperlipidemia 9.9
286 hepatitis b 9.9
287 autoimmune hepatitis 9.9
288 thrombocytosis 9.9
289 pituitary adenoma 9.9
290 systemic scleroderma 9.9
291 adenoma 9.9
292 sickle cell disease 9.9
293 factor vii and factor viii, combined deficiency of 9.9
294 gray platelet syndrome 9.9
295 diaphragmatic hernia, congenital 9.9
296 myositis 9.9
297 bleeding disorder, platelet-type, 16 9.9
298 factor v and factor viii, combined deficiency of, with normal protein c and protein c inhibitor 9.9
299 hyper-ige recurrent infection syndrome 2, autosomal recessive 9.9
300 suppression of tumorigenicity 12 9.9
301 bone disease 9.9
302 hyper ige syndrome 9.9
303 ehlers-danlos syndrome 9.9
304 adenocarcinoma 9.9
305 complex regional pain syndrome 9.9
306 polyradiculoneuropathy 9.9
307 human immunodeficiency virus infectious disease 9.9
308 anthrax disease 9.9
309 hyperthyroidism 9.9
310 dock8 immunodeficiency syndrome 9.9
311 hellp syndrome 9.9 VWF F3 F2
312 attention deficit-hyperactivity disorder 9.9
313 charge syndrome 9.9
314 mononeuropathy of the median nerve, mild 9.9
315 spondylitis 9.9
316 avascular necrosis 9.9
317 protein s deficiency 9.9 F3 F2 F10
318 adult syndrome 9.9
319 apnea, obstructive sleep 9.9
320 coloboma of optic nerve 9.9
321 cone-rod dystrophy 2 9.9
322 esophageal cancer 9.9
323 hashimoto thyroiditis 9.9
324 intussusception 9.9
325 marfan syndrome 9.9
326 oculodentodigital dysplasia 9.9
327 pemphigus vulgaris, familial 9.9
328 pneumothorax, primary spontaneous 9.9
329 psoriasis 1 9.9
330 rheumatoid arthritis 9.9
331 tetralogy of fallot 9.9
332 thyroid cancer, nonmedullary, 1 9.9
333 down syndrome 9.9
334 lung cancer 9.9
335 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 9.9
336 myelofibrosis 9.9
337 neuraminidase deficiency 9.9
338 graves disease 1 9.9
339 squamous cell carcinoma, head and neck 9.9
340 ataxia with vitamin e deficiency 9.9
341 androgen insensitivity syndrome 9.9
342 adrenoleukodystrophy 9.9
343 congenital hemidysplasia with ichthyosiform erythroderma and limb defects 9.9
344 asthma 9.9
345 psoriasis 2 9.9
346 intervertebral disc disease 9.9
347 psoriasis 7 9.9
348 gastrointestinal stromal tumor 9.9
349 aortic aneurysm, familial thoracic 1 9.9
350 psoriasis 11 9.9
351 leukemia, acute lymphoblastic 9.9
352 gastric cancer 9.9
353 psoriasis 13 9.9
354 autoimmune pancreatitis 9.9
355 exanthem 9.9
356 autosomal recessive disease 9.9
357 ischemic colitis 9.9
358 lymphoproliferative syndrome 9.9
359 combined immunodeficiency 9.9
360 endocarditis 9.9
361 rickets 9.9
362 thrombotic thrombocytopenic purpura 9.9
363 henoch-schoenlein purpura 9.9
364 cartilage disease 9.9
365 graves' disease 9.9
366 hepatitis a 9.9
367 gynecomastia 9.9
368 dilated cardiomyopathy 9.9
369 ventricular septal defect 9.9
370 pneumothorax 9.9
371 pericarditis 9.9
372 transient cerebral ischemia 9.9
373 gastric antral vascular ectasia 9.9
374 lipid metabolism disorder 9.9
375 plague 9.9
376 aortic aneurysm 9.9
377 skin disease 9.9
378 gastritis 9.9
379 liver disease 9.9
380 ludwig's angina 9.9
381 thyroiditis 9.9
382 peptic ulcer disease 9.9
383 end stage renal disease 9.9
384 septic arthritis 9.9
385 peritonitis 9.9
386 cataract 9.9
387 appendicitis 9.9
388 lung disease 9.9
389 measles 9.9
390 psoriasis 9.9
391 cholangitis 9.9
392 stomatitis 9.9
393 polyarteritis nodosa 9.9
394 toxoplasmosis 9.9
395 children's interstitial lung disease 9.9
396 mallory-weiss syndrome 9.9
397 argyria 9.9
398 thyroid carcinoma 9.9
399 angioedema, hereditary, 1 9.9
400 burkitt lymphoma 9.9
401 complement component 2 deficiency 9.9
402 human cytomegalovirus infection 9.9
403 urticaria 9.9
404 hemoglobinopathy 9.9
405 chickenpox 9.9
406 mycobacterium avium complex infections 9.9
407 communicating hydrocephalus 9.8
408 monosomy 21 9.8
409 polycythemia vera 9.8 VWF F3 F2
410 scott syndrome 9.8 F2 F10
411 leukemia, chronic myeloid 9.8
412 hereditary hemorrhagic telangiectasia 9.8
413 panic disorder 9.8
414 central retinal vein occlusion 9.8 VWF F8 F3 F2
415 cerebrocostomandibular syndrome 9.8
416 glaucoma, primary open angle 9.8
417 keratitis, hereditary 9.8
418 high molecular weight kininogen deficiency 9.8
419 biotinidase deficiency 9.8
420 osteogenic sarcoma 9.8
421 toe syndactyly, telecanthus, and anogenital and renal malformations 9.8
422 night blindness, congenital stationary, type 1a 9.8
423 spinal and bulbar muscular atrophy, x-linked 1 9.8
424 short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities 9.8
425 macular degeneration, age-related, 1 9.8
426 dermatitis, atopic 9.8
427 macs syndrome 9.8
428 aspergillosis 9.8
429 cerebellar ataxia, neuropathy, and vestibular areflexia syndrome 9.8
430 salivary gland carcinoma 9.8
431 bone sarcoma 9.8
432 corneal disease 9.8
433 keratoconus 9.8
434 common cold 9.8
435 secondary hyperparathyroidism 9.8
436 shipyard eye 9.8
437 hyperparathyroidism 9.8
438 allergic contact dermatitis 9.8
439 central nervous system disease 9.8
440 fibrosarcoma 9.8
441 intermittent claudication 9.8
442 myopathy 9.8
443 occupational dermatitis 9.8
444 dentin sensitivity 9.8
445 decubitus ulcer 9.8
446 keratoconjunctivitis 9.8
447 spinal cord injury 9.8
448 acute sensory ataxic neuropathy 9.8
449 dic in newborn 9.8 F7 F3 F2
450 alpha-2-plasmin inhibitor deficiency 9.8 F7 F3 F2
451 fibrodysplasia ossificans progressiva 9.8
452 australia antigen 9.8
453 anxiety 9.8
454 avascular necrosis of femoral head, primary, 1 9.8
455 sexual health disorder 9.8
456 castleman disease 9.8
457 chondrocalcinosis 9.8
458 disease of mental health 9.8
459 hepatitis d 9.8
460 ankylosis 9.8
461 gingivitis 9.8
462 nutritional deficiency disease 9.8
463 myositis ossificans 9.8
464 neuropathy 9.8
465 budd-chiari syndrome 9.8 F7 F3 F2
466 alcohol dependence 9.7
467 cerebral cavernous malformations 9.7
468 hypertension, essential 9.7
469 kaposi sarcoma 9.7
470 osseous heteroplasia, progressive 9.7
471 parkinson disease, late-onset 9.7
472 popliteal cyst 9.7
473 prader-willi syndrome 9.7
474 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 9.7
475 sarcoidosis 1 9.7
476 temporal arteritis 9.7
477 torticollis 9.7
478 triiodothyronine receptor auxiliary protein 9.7
479 biliary atresia, extrahepatic 9.7
480 enterocolitis 9.7
481 fanconi anemia, complementation group a 9.7
482 hemochromatosis, type 1 9.7
483 shwachman-diamond syndrome 1 9.7
484 wilson disease 9.7
485 x inactivation, familial skewed, 2 9.7
486 ornithine transcarbamylase deficiency, hyperammonemia due to 9.7
487 46,xy sex reversal 1 9.7
488 helicobacter pylori infection 9.7
489 hurler syndrome 9.7
490 scheie syndrome 9.7
491 coronary heart disease 1 9.7
492 patent ductus arteriosus 1 9.7
493 malaria 9.7
494 sarcoidosis 2 9.7
495 protein z deficiency 9.7
496 membranous nephropathy 9.7
497 human herpesvirus 8 9.7
498 leptin deficiency or dysfunction 9.7
499 leptin receptor deficiency 9.7
500 melioidosis 9.7
501 immunodeficiency, common variable, 10 9.7
502 thrombocytopenia 5 9.7
503 spastic cerebral palsy 9.7
504 anal fistula 9.7
505 isolated growth hormone deficiency 9.7
506 erythema nodosum 9.7
507 beta-thalassemia major 9.7
508 plasmablastic lymphoma 9.7
509 immunoglobulin light chain amyloidosis 9.7
510 esophageal atresia 9.7
511 chronic pyelonephritis 9.7
512 chronic maxillary sinusitis 9.7
513 discitis 9.7
514 sarcoma 9.7
515 adult respiratory distress syndrome 9.7
516 dengue disease 9.7
517 acute kidney tubular necrosis 9.7
518 plasmodium vivax malaria 9.7
519 pulmonary sarcoidosis 9.7
520 cholestasis 9.7
521 obstructive jaundice 9.7
522 biliary atresia 9.7
523 hypolipoproteinemia 9.7
524 46,xy sex reversal 9.7
525 angioedema 9.7
526 alcohol use disorder 9.7
527 limited scleroderma 9.7
528 lymphadenitis 9.7
529 maxillary sinusitis 9.7
530 atypical teratoid rhabdoid tumor 9.7
531 nocardiosis 9.7
532 transitional cell carcinoma 9.7
533 membranoproliferative glomerulonephritis 9.7
534 kidney cortex necrosis 9.7
535 glioblastoma 9.7
536 interstitial lung disease 9.7
537 tracheal stenosis 9.7
538 chronic granulomatous disease 9.7
539 teratocarcinoma 9.7
540 mammary paget's disease 9.7
541 cellulitis 9.7
542 superior mesenteric artery syndrome 9.7
543 plexopathy 9.7
544 heart valve disease 9.7
545 lymph node tuberculosis 9.7
546 nephrolithiasis 9.7
547 acne 9.7
548 juvenile rheumatoid arthritis 9.7
549 muscular atrophy 9.7
550 vasculitis 9.7
551 perinatal necrotizing enterocolitis 9.7
552 gas gangrene 9.7
553 etv6 thrombocytopenia and predisposition to leukemia 9.7
554 periodontal ehlers-danlos syndrome 9.7
555 catastrophic antiphospholipid syndrome 9.7
556 chronic hiccups 9.7
557 cryopyrin-associated periodic syndrome 9.7
558 double outlet left ventricle 9.7
559 growth hormone deficiency 9.7
560 herpes simiae 9.7
561 idiopathic edema 9.7
562 lymphoma aids related 9.7
563 sudden arrhythmia death syndrome 9.7
564 hypotonia 9.7
565 paraneoplastic syndromes 9.7
566 functional neutrophil defect 9.7
567 jeavons syndrome 9.7
568 rare hereditary hemochromatosis 9.7
569 moyamoya angiopathy 9.7
570 glomerular disease 9.7
571 immune-mediated thrombotic thrombocytopenic purpura 9.7
572 twin-reversed arterial perfusion sequence 9.7
573 aortic aneurysm, familial abdominal, 1 9.7
574 spondyloarthropathy 1 9.7
575 leukemia, chronic lymphocytic 2 9.7
576 hepatocellular carcinoma 9.7
577 carpal tunnel syndrome 9.7
578 cleft palate, isolated 9.7
579 creutzfeldt-jakob disease 9.7
580 type 2 diabetes mellitus 9.7
581 multiple sclerosis 9.7
582 fibromuscular dysplasia, arterial 9.7
583 immunoglobulin a deficiency 1 9.7
584 guillain-barre syndrome, familial 9.7
585 developmental dysplasia of the hip 1 9.7
586 hypercholesterolemia, familial, 1 9.7
587 hyperostosis cranialis interna 9.7
588 macrodactyly 9.7
589 neutrophilia, hereditary 9.7
590 spinocerebellar ataxia 1 9.7
591 enchondromatosis, multiple, ollier type 9.7
592 otitis media 9.7
593 pancreatitis, hereditary 9.7
594 proteus syndrome 9.7
595 pulmonary hypertension, primary, 1 9.7
596 pruritic urticarial papules and plaques of pregnancy 9.7
597 roussy-levy hereditary areflexic dystasia 9.7
598 small cell cancer of the lung 9.7
599 split-hand/foot malformation 1 9.7
600 spondylolisthesis 9.7
601 chromosome 2q35 duplication syndrome 9.7
602 thrombocythemia 1 9.7
603 digeorge syndrome 9.7
604 vitiligo-associated multiple autoimmune disease susceptibility 6 9.7
605 arthrogryposis, distal, type 2a 9.7
606 lipoid congenital adrenal hyperplasia 9.7
607 adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency 9.7
608 arachnoid cysts, intracranial 9.7
609 cardiomyopathy, dilated, with hypergonadotropic hypogonadism 9.7
610 crigler-najjar syndrome, type i 9.7
611 dandy-walker syndrome 9.7
612 persistent hyperplastic primary vitreous, autosomal recessive 9.7
613 type 1 diabetes mellitus 9.7
614 glaucoma 3, primary congenital, a 9.7
615 glycogen storage disease ii 9.7
616 hemihyperplasia, isolated 9.7
617 hemolytic uremic syndrome, atypical 1 9.7
618 hypoadrenocorticism, familial 9.7
619 hypoascorbemia 9.7
620 intracranial hypertension, idiopathic 9.7
621 papillon-lefevre syndrome 9.7
622 mucopolysaccharidosis, type vii 9.7
623 multiple pterygium syndrome, lethal type 9.7
624 neurodegeneration with brain iron accumulation 2a 9.7
625 ocular motor apraxia 9.7
626 pancreatic cancer 9.7
627 pulmonic stenosis 9.7
628 retinitis pigmentosa 9.7
629 enhanced s-cone syndrome 9.7
630 sjogren syndrome 9.7
631 fragile x syndrome 9.7
632 agammaglobulinemia, x-linked 9.7
633 wiskott-aldrich syndrome 9.7
634 coffin-lowry syndrome 9.7
635 incontinentia pigmenti 9.7
636 paine syndrome 9.7
637 taqi polymorphism 9.7
638 prostatic hyperplasia, benign 9.7
639 gallbladder disease 1 9.7
640 fanconi anemia, complementation group e 9.7
641 leukemia, acute myeloid 9.7
642 bile duct cysts 9.7
643 hyperhomocysteinemia 9.7
644 alpha-thalassemia 9.7
645 lymphoma, non-hodgkin, familial 9.7
646 basal cell carcinoma 1 9.7
647 vitiligo-associated multiple autoimmune disease susceptibility 1 9.7
648 allergic rhinitis 9.7
649 psoriatic arthritis 9.7
650 spastic paraplegia, ataxia, and mental retardation 9.7
651 ovarian hyperstimulation syndrome 9.7
652 transposition of the great arteries, dextro-looped 9.7
653 intraocular pressure quantitative trait locus 9.7
654 kawasaki disease 9.7
655 chromosome 22q11.2 deletion syndrome, distal 9.7
656 glass syndrome 9.7
657 acute promyelocytic leukemia 9.7
658 lung cancer susceptibility 3 9.7
659 cholangitis, primary sclerosing 9.7
660 anhaptoglobinemia 9.7
661 stickler syndrome, type iv 9.7
662 psoriasis 14, pustular 9.7
663 myelodysplastic syndrome 9.7
664 graft-versus-host disease 9.7
665 intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies 9.7
666 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 9.7
667 aortic valve disease 2 9.7
668 bone mineral density quantitative trait locus 16 9.7
669 leukemia, acute lymphoblastic 3 9.7
670 vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome 9.7
671 mucopolysaccharidosis-plus syndrome 9.7
672 west syndrome 9.7
673 pulmonary hypertension 9.7
674 hemophagocytic lymphohistiocytosis 9.7
675 hypophosphatemia 9.7
676 adult t-cell leukemia/lymphoma 9.7
677 hereditary sensory neuropathy 9.7
678 inflammatory bowel disease 9.7
679 chorioamnionitis 9.7
680 mantle cell lymphoma 9.7
681 t-cell large granular lymphocyte leukemia 9.7
682 atrioventricular block 9.7
683 third-degree atrioventricular block 9.7
684 peripheral artery disease 9.7
685 sleep apnea 9.7
686 oral squamous cell carcinoma 9.7
687 infective endocarditis 9.7
688 immunoglobulin alpha deficiency 9.7
689 clostridium difficile colitis 9.7
690 gallbladder disease 9.7
691 mastoiditis 9.7
692 spinal disease 9.7
693 salmonellosis 9.7
694 obstructive nephropathy 9.7
695 chromosomal disease 9.7
696 myoglobinuria 9.7
697 chronic neutrophilic leukemia 9.7
698 chronic myelomonocytic leukemia 9.7
699 igg4-related disease 9.7
700 b-lymphoblastic leukemia/lymphoma 9.7
701 aortic dissection 9.7
702 diffuse gastric cancer 9.7
703 pemphigus foliaceus 9.7
704 rapidly involuting congenital hemangioma 9.7
705 severe covid-19 9.7
706 diabetes 9.7
707 split hand-foot malformation 9.7
708 hypogonadotropic hypogonadism 9.7
709 osteonecrosis 9.7
710 mumps 9.7
711 nasopharyngitis 9.7
712 microinvasive gastric cancer 9.7
713 charcot-marie-tooth disease 9.7
714 gastric ulcer 9.7
715 tooth disease 9.7
716 lipoid nephrosis 9.7
717 brucellosis 9.7
718 hydronephrosis 9.7
719 prostatic hypertrophy 9.7
720 common wart 9.7
721 keratomalacia 9.7
722 heart disease 9.7
723 pyelonephritis 9.7
724 constrictive pericarditis 9.7
725 horner's syndrome 9.7
726 mitral valve insufficiency 9.7
727 cauda equina syndrome 9.7
728 cicatricial pemphigoid 9.7
729 lyme disease 9.7
730 choledocholithiasis 9.7
731 iron deficiency anemia 9.7
732 pericardial effusion 9.7
733 nephrotic syndrome 9.7
734 esophagitis 9.7
735 lymphocytic choriomeningitis 9.7
736 neutropenia 9.7
737 hematocele of tunica vaginalis testis 9.7
738 leukemia 9.7
739 bell's palsy 9.7
740 pyloric stenosis 9.7
741 telangiectasis 9.7
742 quadriplegia 9.7
743 guillain-barre syndrome 9.7
744 carotid stenosis 9.7
745 dementia 9.7
746 diarrhea 9.7
747 color blindness 9.7
748 pure red-cell aplasia 9.7
749 hepatic encephalopathy 9.7
750 glanders 9.7
751 facial paralysis 9.7
752 amenorrhea 9.7
753 alcoholic liver cirrhosis 9.7
754 toxic shock syndrome 9.7
755 sclerosing cholangitis 9.7
756 gonadal dysgenesis 9.7
757 pemphigoid gestationis 9.7
758 lymphangioma 9.7
759 cholera 9.7
760 candidiasis 9.7
761 cystitis 9.7
762 squamous cell carcinoma 9.7
763 factitious disorder 9.7
764 atrial heart septal defect 9.7
765 cholecystitis 9.7
766 cerebral palsy 9.7
767 exostosis 9.7
768 intestinal perforation 9.7
769 constipation 9.7
770 ascending colon cancer 9.7
771 myeloproliferative neoplasm 9.7
772 arteriosclerosis 9.7
773 iron metabolism disease 9.7
774 relapsing-remitting multiple sclerosis 9.7
775 basal cell carcinoma 9.7
776 hematologic cancer 9.7
777 agammaglobulinemia 9.7
778 epidermolysis bullosa 9.7
779 idiopathic interstitial pneumonia 9.7
780 acute interstitial pneumonia 9.7
781 hairy cell leukemia 9.7
782 endometriosis 9.7
783 cryoglobulinemia 9.7
784 glomerulonephritis 9.7
785 testicular cancer 9.7
786 gingival overgrowth 9.7
787 spinal cord disease 9.7
788 rhabdomyosarcoma 9.7
789 vaccinia 9.7
790 skin carcinoma 9.7
791 signet ring cell adenocarcinoma 9.7
792 retinitis 9.7
793 gastric adenocarcinoma 9.7
794 pancreatic adenocarcinoma 9.7
795 radiculopathy 9.7
796 epidermolysis bullosa acquisita 9.7
797 rhinitis 9.7
798 dysgraphia 9.7
799 uremia 9.7
800 brain edema 9.7
801 ovarian cyst 9.7
802 urinary tract obstruction 9.7
803 t-cell acute lymphoblastic leukemia 9.7
804 inferior myocardial infarction 9.7
805 anteroseptal myocardial infarction 9.7
806 congestive heart failure 9.7
807 lymphopenia 9.7
808 pulmonary valve stenosis 9.7
809 progressive multifocal leukoencephalopathy 9.7
810 plasma cell neoplasm 9.7
811 inherited metabolic disorder 9.7
812 diffuse idiopathic skeletal hyperostosis 9.7
813 spinal stenosis 9.7
814 neuroblastoma 9.7
815 gastrointestinal system disease 9.7
816 myocarditis 9.7
817 chronic rhinitis 9.7
818 intestinal obstruction 9.7
819 ileus 9.7
820 influenza 9.7
821 herpes zoster 9.7
822 subacute delirium 9.7
823 myeloid leukemia 9.7
824 bacterial pneumonia 9.7
825 erythema infectiosum 9.7
826 crohn's disease 9.7
827 rubella 9.7
828 evans' syndrome 9.7
829 hepatopulmonary syndrome 9.7
830 amyloidosis 9.7
831 hypopituitarism 9.7
832 encephalitis 9.7
833 urethral calculus 9.7
834 fasciitis 9.7
835 plantar fasciitis 9.7
836 episodic ataxia 9.7
837 pathologic nystagmus 9.7
838 hemorrhoid 9.7
839 alopecia 9.7
840 xq28 duplication syndrome, int22h1/int22h2 mediated 9.7
841 46, xy disorders of sexual development 9.7
842 autoimmune encephalitis 9.7
843 chronic graft versus host disease 9.7
844 fibromatosis 9.7
845 hashimoto encephalopathy 9.7
846 leukemia, t-cell, chronic 9.7
847 microscopic polyangiitis 9.7
848 myelodysplastic syndrome with excess blasts 9.7
849 oral cancer 9.7
850 pdgfrb-associated chronic eosinophilic leukemia 9.7
851 pustular psoriasis 9.7
852 pyogenic granuloma 9.7
853 slipped capital femoral epiphysis 9.7
854 splenomegaly 9.7
855 undifferentiated connective tissue disease 9.7
856 cryptogenic cirrhosis 9.7
857 back pain 9.7
858 cerebral aneurysms 9.7
859 encephalopathy 9.7
860 headache 9.7
861 syncope 9.7
862 hydrocephalus with stenosis of the aqueduct of sylvius 9.7
863 interatrial communication 9.7
864 superficial fibromatosis 9.7
865 mandibular arteriovenous malformation 9.7
866 inflammatory myopathy with abundant macrophages 9.7
867 isolated split hand-split foot malformation 9.7
868 solitary rectal ulcer syndrome 9.7
869 rare lymphatic malformation 9.7
870 tafro syndrome 9.7
871 chronic bilirubin encephalopathy 9.7
872 syndrome with 46,xy disorder of sex development 9.7
873 polyploidy 9.7
874 monosomy 22 9.7
875 overgrowth syndrome 9.7
876 hemophilia b leyden 9.7
877 coronavirus infectious disease 9.7 F3 F2
878 heart conduction disease 9.7 VWF F3 F2 F10
879 synovial angioma 9.7 F8 F7 F3 F2
880 pfeiffer syndrome 9.6
881 chondrocalcinosis 2 9.6
882 photoparoxysmal response 1 9.6
883 factors viii, ix and xi, combined deficiency of 9.6
884 legg-calve-perthes disease 9.6
885 noonan syndrome 1 9.6
886 pheochromocytoma 9.6
887 porphyria cutanea tarda 9.6
888 smith-magenis syndrome 9.6
889 trigeminal neuralgia 9.6
890 adrenocortical carcinoma, hereditary 9.6
891 craniofacial dyssynostosis with short stature 9.6
892 eosinophilic fasciitis 9.6
893 goodpasture syndrome 9.6
894 allan-herndon-dudley syndrome 9.6
895 aland island eye disease 9.6
896 arts syndrome 9.6
897 colorblindness, partial, protan series 9.6
898 aging 9.6
899 retinitis pigmentosa 12 9.6
900 microvascular complications of diabetes 1 9.6
901 abdominal obesity-metabolic syndrome 1 9.6
902 aneurysmal bone cysts 9.6
903 dravet syndrome 9.6
904 neutrophilic dermatosis, acute febrile 9.6
905 major depressive disorder 9.6
906 diabetes mellitus, ketosis-prone 9.6
907 microvascular complications of diabetes 2 9.6
908 microvascular complications of diabetes 3 9.6
909 microvascular complications of diabetes 4 9.6
910 microvascular complications of diabetes 5 9.6
911 microvascular complications of diabetes 6 9.6
912 microvascular complications of diabetes 7 9.6
913 alpha-1-antitrypsin deficiency 9.6
914 muscle hypertrophy 9.6
915 dysfibrinogenemia, congenital 9.6
916 usher syndrome 9.6
917 chronic venous insufficiency 9.6
918 scoliosis 9.6
919 cold-induced sweating syndrome 9.6
920 persistent generalized lymphadenopathy 9.6
921 childhood acute lymphocytic leukemia 9.6
922 non-alcoholic fatty liver disease 9.6
923 non-alcoholic steatohepatitis 9.6
924 urolithiasis 9.6
925 separation anxiety disorder 9.6
926 renal hypertension 9.6
927 primary hyperparathyroidism 9.6
928 clubfoot 9.6
929 dieulafoy lesion 9.6
930 hemosiderosis 9.6
931 ulnar nerve lesion 9.6
932 nephrocalcinosis 9.6
933 persistent fetal circulation syndrome 9.6
934 porphyria 9.6
935 mycoplasma pneumoniae pneumonia 9.6
936 premature ejaculation 9.6
937 acute closed-angle glaucoma 9.6
938 primary angle-closure glaucoma 9.6
939 obstructive hydrocephalus 9.6
940 personality disorder 9.6
941 rectal benign neoplasm 9.6
942 rectum cancer 9.6
943 b cell deficiency 9.6
944 kidney cancer 9.6
945 prostatic adenoma 9.6
946 kidney papillary necrosis 9.6
947 papillary carcinoma 9.6
948 syringomyelia 9.6
949 peanut allergy 9.6
950 hepatitis e 9.6
951 ulnar neuropathy 9.6
952 nerve compression syndrome 9.6
953 peripheral nervous system disease 9.6
954 reactive arthritis 9.6
955 b-cell lymphoma 9.6
956 pyomyositis 9.6
957 achalasia 9.6
958 neurotic excoriation 9.6
959 fatty liver disease 9.6
960 necrotizing fasciitis 9.6
961 neurofibroma 9.6
962 periodontosis 9.6
963 hypereosinophilic syndrome 9.6
964 hypermobile ehlers-danlos syndrome 9.6
965 aneurysm of sinus of valsalva 9.6
966 eosinophilic cystitis 9.6
967 hemorrhagic shock and encephalopathy syndrome 9.6
968 neonatal stroke 9.6
969 foot drop 9.6
970 refractory anemia with excess blasts in transformation 9.6
971 progressive non-infectious anterior vertebral fusion 9.6
972 autoimmune hemolytic anemia, warm type 9.6
973 idiopathic syringomyelia 9.6
974 brachydactyly, type d 9.6 VWF F9 F8 F3 F10
975 patent foramen ovale 9.6 VWF F7 F3 F2
976 factor xiii deficiency 9.5 VWF F8 F7 F3 F2
977 vein disease 9.5 VWF F8 F7 F3 F2
978 bernard-soulier syndrome 9.3 VWF F9 F8 F7 F3 F2
979 pulmonary artery disease 9.2 VWF F8 F7 F3 F2 F10

Comorbidity relations with Hemophilia a via Phenotypic Disease Network (PDN): (showing 1, show less)


Deficiency Anemia

Graphical network of the top 20 diseases related to Hemophilia a:



Diseases related to Hemophilia a

Symptoms & Phenotypes for Hemophilia a

Human phenotypes related to Hemophilia a:

57 30 (showing 47, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 arthralgia 57 30 Occasional (7.5%) Very frequent (99-80%)
Frequent (79-30%)
Occasional (29-5%)
HP:0002829
2 joint swelling 57 30 Frequent (33%) Very frequent (99-80%)
Occasional (29-5%)
Frequent (79-30%)
HP:0001386
3 bruising susceptibility 57 30 Frequent (33%) Very frequent (99-80%)
Frequent (79-30%)
HP:0000978
4 bleeding with minor or no trauma 57 30 Frequent (33%) Very frequent (99-80%)
Frequent (79-30%)
HP:0011889
5 prolonged partial thromboplastin time 57 30 Hallmark (90%) Very frequent (99-80%)
Occasional (29-5%)
Very frequent (99-80%)
HP:0003645
6 reduced factor viii activity 57 30 Hallmark (90%) Very frequent (99-80%)
Very frequent (99-80%)
Very frequent (99-80%)
Very frequent (99-80%)
HP:0003125
7 epistaxis 57 30 Frequent (33%) Frequent (79-30%)
Frequent (79-30%)
HP:0000421
8 gingival bleeding 57 30 Frequent (33%) Frequent (79-30%)
HP:0000225
9 spontaneous hematomas 57 30 Very rare (1%) Frequent (79-30%)
Very rare (<4-1%)
Very rare (<4-1%)
HP:0007420
10 poor wound healing 57 30 Frequent (33%) Frequent (79-30%)
HP:0001058
11 thromboembolism 57 30 Frequent (33%) Frequent (79-30%)
HP:0001907
12 menorrhagia 57 30 Occasional (7.5%) Frequent (79-30%)
Occasional (29-5%)
HP:0000132
13 post-partum hemorrhage 57 30 Frequent (33%) Frequent (79-30%)
HP:0011891
14 oral cavity bleeding 57 30 Frequent (33%) Frequent (79-30%)
Frequent (79-30%)
HP:0030140
15 persistent bleeding after trauma 57 30 Frequent (33%) Frequent (79-30%)
HP:0001934
16 joint hemorrhage 57 30 Frequent (33%) Occasional (29-5%)
Frequent (79-30%)
Occasional (29-5%)
Frequent (79-30%)
HP:0005261
17 intramuscular hematoma 57 30 Occasional (7.5%) Occasional (29-5%)
Frequent (79-30%)
Occasional (29-5%)
HP:0012233
18 prolonged bleeding after dental extraction 57 30 Occasional (7.5%) Occasional (29-5%)
Frequent (79-30%)
HP:0006298
19 prolonged bleeding after surgery 57 30 Frequent (33%) Occasional (29-5%)
Frequent (79-30%)
Frequent (79-30%)
HP:0004846
20 anemia 57 30 Occasional (7.5%) Occasional (29-5%)
HP:0001903
21 hematuria 57 30 Occasional (7.5%) Occasional (29-5%)
HP:0000790
22 gastrointestinal hemorrhage 57 30 Occasional (7.5%) Occasional (29-5%)
Occasional (29-5%)
Occasional (29-5%)
HP:0002239
23 abnormality of the elbow 57 30 Occasional (7.5%) Occasional (29-5%)
HP:0009811
24 headache 57 30 Occasional (7.5%) Occasional (29-5%)
Occasional (29-5%)
HP:0002315
25 limitation of joint mobility 57 30 Occasional (7.5%) Occasional (29-5%)
Occasional (29-5%)
HP:0001376
26 cartilage destruction 57 30 Occasional (7.5%) Occasional (29-5%)
HP:0100773
27 synovitis 57 30 Occasional (7.5%) Occasional (29-5%)
Occasional (29-5%)
HP:0100769
28 arthropathy 57 30 Occasional (7.5%) Occasional (29-5%)
HP:0003040
29 progressive joint destruction 57 30 Occasional (7.5%) Occasional (29-5%)
HP:0005187
30 macroscopic hematuria 57 30 Occasional (7.5%) Occasional (29-5%)
HP:0012587
31 cephalohematoma 57 30 Occasional (7.5%) Occasional (29-5%)
HP:0012541
32 intraventricular hemorrhage 57 30 Very rare (1%) Occasional (29-5%)
Very rare (<4-1%)
HP:0030746
33 prolonged bleeding following circumcision 57 30 Occasional (7.5%) Occasional (29-5%)
HP:0030137
34 limb joint contracture 57 30 Occasional (7.5%) Occasional (29-5%)
HP:0003121
35 epidural hemorrhage 57 30 Occasional (7.5%) Very rare (<4-1%)
Occasional (29-5%)
HP:0100310
36 subdural hemorrhage 57 30 Occasional (7.5%) Occasional (29-5%)
Occasional (29-5%)
HP:0100309
37 reduced von willebrand factor activity 57 30 Occasional (7.5%) Occasional (29-5%)
HP:0008330
38 hip contracture 57 30 Very rare (1%) Very rare (<4-1%)
HP:0003273
39 splenic rupture 57 30 Very rare (1%) Very rare (<4-1%)
HP:0012223
40 seizure 30 Very rare (1%) HP:0001250
41 seizures 57 Very rare (<4-1%)
42 intracranial hemorrhage 57 Very rare (<4-1%)
Occasional (29-5%)
Occasional (29-5%)
43 osteoarthritis 30 HP:0002758
44 subcutaneous hemorrhage 57 Frequent (79-30%)
45 abnormal bleeding 57 Very frequent (99-80%)
Frequent (79-30%)
46 prolonged bleeding following procedure 57 Frequent (79-30%)
47 muscle hemorrhage 30 HP:0040242

Symptoms via clinical synopsis from OMIM®:

56 (Updated 06-Jun-2022)
Laboratory Abnormalities:
factor viii deficiency
platelet count normal
ptt prolonged
pt normal
bleeding time normal
more
Skeletal Limbs:
hemarthroses
degenerative joint disease

Skin Nails Hair Skin:
ecchymoses common
petechiae and purpura do not occur

Clinical features from OMIM®:

306700 (Updated 06-Jun-2022)

Drugs & Therapeutics for Hemophilia a

Drugs for Hemophilia a (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(showing 192, show less)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Anti-inhibitor coagulant complex Approved, Investigational Phase 4
2
Triamcinolone Approved, Vet_approved Phase 4 124-94-7 31307
3
Ropivacaine Approved Phase 4 84057-95-4 71273 175805
4
Hyaluronic acid Approved, Vet_approved Phase 4 9004-61-9 53477741
5
Benzocaine Approved, Investigational Phase 4 1994-09-7, 94-09-7 2337
6
Tannic acid Approved Phase 4 1401-55-4 16129878 16129778
7
Tranexamic acid Approved Phase 4 1197-18-8 5526
8
Stavudine Approved, Investigational Phase 4 3056-17-5 18283
9
Zidovudine Approved Phase 4 30516-87-1 35370
10
Zalcitabine Approved, Investigational Phase 4 7481-89-2 24066
11
Lamivudine Approved, Investigational Phase 4 134678-17-4 60825
12
Indinavir Approved Phase 4 150378-17-9 5362440
13
Didanosine Approved Phase 4 69655-05-6 50599
14
Ribavirin Approved Phase 4 36791-04-5 37542
15
Peginterferon alfa-2a Approved, Investigational Phase 4 198153-51-4
16
Mometasone furoate Approved, Investigational, Vet_approved Phase 4 83919-23-7 4240 441336
17 Immunologic Factors Phase 4
18 Deamino Arginine Vasopressin Phase 4
19
Triamcinolone hexacetonide Phase 4
20
Triamcinolone diacetate Phase 4
21
Triamcinolone Acetonide Phase 4 6436
22 Hylan Phase 4
23 Arginine Vasopressin Phase 4
24 Vasopressins Phase 4
25 Antifibrinolytic Agents Phase 4
26 Anti-Infective Agents Phase 4
27 Antiviral Agents Phase 4
28 Reverse Transcriptase Inhibitors Phase 4
29 Anti-HIV Agents Phase 4
30 Antimetabolites Phase 4
31 interferons Phase 4
32 Interferon-alpha Phase 4
33 Antibodies Phase 4
34 Immunoglobulins Phase 4
35 Hemostatics Phase 4
36 Antibodies, Monoclonal Phase 4
37 Immunoglobulin Fc Fragments Phase 4
38 BAX 855 Phase 4
39
Arginine Investigational, Nutraceutical Phase 4 74-79-3 6322
40
Rituximab Approved Phase 2, Phase 3 174722-31-7
41
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
42
Prednisone Approved, Vet_approved Phase 2, Phase 3 53-03-2 5865
43 Alkylating Agents Phase 3
44 Immunosuppressive Agents Phase 3
45 Antineoplastic Agents, Alkylating Phase 3
46 Pharmaceutical Solutions Phase 3
47 Antineoplastic Agents, Immunological Phase 2, Phase 3
48 Antirheumatic Agents Phase 2, Phase 3
49 Anti-Inflammatory Agents Phase 2, Phase 3
50 Antineoplastic Agents, Hormonal Phase 2, Phase 3
51 Hormones Phase 2, Phase 3
52 glucocorticoids Phase 2, Phase 3
53 Hormone Antagonists Phase 2, Phase 3
54
Bortezomib Approved, Investigational Phase 2 179324-69-7 387447 93860
55
Oprelvekin Approved, Investigational Phase 2 145941-26-0
56 Liver Extracts Phase 1, Phase 2
57
Melphalan Approved Phase 1 148-82-3 4053 460612
58
Fludarabine Approved Phase 1 75607-67-9, 21679-14-1 30751 657237
59
Busulfan Approved, Investigational Phase 1 55-98-1 2478
60
Plerixafor Approved Phase 1 110078-46-1 65015
61
Zinc cation Approved, Experimental, Investigational Phase 1 7440-66-6, 23713-49-7 32051
62 Chorionic Gonadotropin Phase 1
63 Anti-Retroviral Agents Phase 1
64 Integrase Inhibitors Phase 1
65 HIV Integrase Inhibitors Phase 1
66 Antilymphocyte Serum Phase 1
67
Xylometazoline Approved, Investigational 526-36-3 5709
68
Fluoxymesterone Approved, Illicit 76-43-7 6446
69
Miconazole Approved, Investigational, Vet_approved 22916-47-8 4189
70
Azathioprine Approved 446-86-6 2265
71
Clotrimazole Approved, Vet_approved 23593-75-1 2812
72
Methylprednisolone hemisuccinate Approved 2921-57-5 1875
73
Methylprednisolone Approved, Vet_approved 83-43-2 4159 6741
74
Prednisolone phosphate Approved, Vet_approved 302-25-0
75
Prednisolone acetate Approved, Vet_approved 52-21-1
76
Prednisolone Approved, Vet_approved 50-24-8 4894 5755
77
Protein C Approved
78
Sulfamethazine Approved, Investigational, Vet_approved 57-68-1 5327
79
Ibuprofen Approved 15687-27-1 3672
80
Spironolactone Approved 1952-01-7, 52-01-7 5833
81
Rocuronium Approved 119302-91-9, 143558-00-3 441290
82
Fosfomycin Approved 23155-02-4 446987
83
Ziprasidone Approved 146939-27-7 60854
84
Pentobarbital Approved, Investigational, Vet_approved 76-74-4 4737
85
Alfentanil Approved, Illicit 71195-58-9 51263
86
Ciprofloxacin Approved, Investigational 85721-33-1, 93107-08-5 2764
87
Cidofovir Approved 113852-37-2 60613
88
Labetalol Approved 36894-69-6 3869
89
Warfarin Approved 81-81-2, 129-06-6 54678486
90
Bosentan Approved, Investigational 147536-97-8 104865
91
Tobramycin Approved, Investigational 32986-56-4 36294
92
Nafcillin Approved, Investigational 985-16-0, 147-52-4 8982
93
Sevelamer Approved 52757-95-6 3085017
94
Cefepime Approved, Investigational 88040-23-7 5479537
95
Dopamine Approved 62-31-7, 51-61-6 681