eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| acquired hemophilia | ||||
| Disease ID | 1159 |
|---|---|
| Disease | acquired hemophilia |
| Definition | Acquired hemophilia is a rare autoimmune disorder characterized by bleeding that occurs in patients with a personal and family history negative for hemorrhages. Autoimmune disorders occur when the body's immune system mistakenly attacks healthy cells or tissue. In acquired hemophilia, the body produces antibodies (known as inhibitors) that attack clotting factors, most often factor VIII. Clotting factors are specialized proteins required for the blood to clot normally. Consequently, affected individuals develop complications associated with abnormal, uncontrolled bleeding into the muscles, skin and soft tissue and during surgery or following trauma. Specific symptoms can include nosebleeds (epistaxis), bruising throughout the body, solid swellings of congealed blood (hematomas), blood in the urine (hematuria) and gastrointestinal or urogenital bleeding. Acquired hemophilia can potentially cause severe, life-threatening bleeding complications in severe cases. In approximately 50% of cases, there is an identifiable underlying clinical condition; in the other 50% no cause is known (idiopathic).Acquired hemophilia is different from congenital hemophilia, a group of rare genetic disorders caused by congenital deficiency of certain clotting factors. The main form of hemophilia is hemophilia A (classic hemophilia), which is an X-linked disorder that fully affects males only. It is caused by deficiency or inactivation of factor VIII, the same clotting factor that is affected in most cases of acquired hemophilia. Although both disorders involve deficiency of the same clotting factor, the bleeding pattern is quite different. The reason the bleeding patterns differ between these disorders is not fully understood. - NORD Reference: NORD |
| Synonym | acquired haemophilia |
| Orphanet | |
| ICD10 | |
| UMLS | C1096116 |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:32) C0030805 | bullous pemphigoid | 3 C0023418 | leukaemia | 2 C0030805 | pemphigoid | 2 C0019196 | hepatitis c | 2 C0019158 | hepatitis | 2 C0035078 | renal failure | 1 C0035435 | rheumatic disease | 1 C0019069 | haemophilia | 1 C0034150 | purpura | 1 C0001815 | myelofibrosis | 1 C0019829 | hodgkin lymphoma | 1 C0026986 | myelodysplastic syndrome | 1 C0600139 | prostate carcinoma | 1 C0024299 | lymphoma | 1 C0376358 | prostate cancer | 1 C0024305 | non-hodgkin lymphoma | 1 C0024141 | systemic lupus erythematosus | 1 C0022660 | acute renal failure | 1 C0009492 | compartment syndrome | 1 C0027051 | myocardial infarct | 1 C0035435 | rheumatic diseases | 1 C0409974 | lupus erythematosus | 1 C0032533 | polymyalgia rheumatica | 1 C0026764 | multiple myeloma | 1 C0003864 | arthritis | 1 C0001815 | primary myelofibrosis | 1 C0024115 | lung disease | 1 C0036421 | systemic sclerosis | 1 C0040028 | essential thrombocythemia | 1 C0027051 | myocardial infarction | 1 C0026896 | myasthenia gravis | 1 C0003873 | rheumatoid arthritis | 1 |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 1159 |
|---|---|
| Disease | acquired hemophilia |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:6) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:1) |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
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| (Waiting for update.) | |
All Snps(Total Genotypes:0) | |
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| (Waiting for update.) | |
GWASdb Annotation(Total Genotypes:0) | |
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| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
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| (Waiting for update.) | |
Mapped by lexical matching(Total Items:6) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0003645 | Prolonged partial thromboplastin time | MP:0012359 | increased partial thromboplastin time | increased amount of time it takes blood to clot after the addition of phospholipid, calcium, and an activator, e.g., silica, kaolin; measure of the quality of the intrinsic and common coagulation pathways |
| HP:0001933 | Subcutaneous hemorrhage | MP:0011437 | glomerulus hemorrhage | bleeding in the renal glomerulus |
| HP:0002239 | Gastrointestinal hemorrhage | MP:0012305 | umbilical cord hemorrhage | bleeding into or from the umbilical cord |
| HP:0002170 | Intracranial hemorrhage | MP:0006203 | eye hemorrhage | bleeding into the eye |
| HP:0005261 | Joint hemorrhage | MP:0012305 | umbilical cord hemorrhage | bleeding into or from the umbilical cord |
| HP:0001892 | Abnormal bleeding | MP:0005606 | increased bleeding time | greater than the normal duration of blood flow after skin puncture; indicative of platelet and capillary function |
Mapped by homologous gene(Total Items:10) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000790 | Hematuria | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0005261 | Joint hemorrhage | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| HP:0001933 | Subcutaneous hemorrhage | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0012233 | Intramuscular hematoma | MP:0011110 | preweaning lethality, incomplete penetrance | the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between fertilization and weaning age (Mus: approximately 3-4 weeks of age) |
| HP:0003125 | Reduced factor VIII activity | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| HP:0001892 | Abnormal bleeding | MP:0020138 | delayed bone mineralization | late onset of the process by which minerals are deposited into bone |
| HP:0002170 | Intracranial hemorrhage | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002239 | Gastrointestinal hemorrhage | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| HP:0003645 | Prolonged partial thromboplastin time | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| HP:0001903 | Anemia | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| Disease ID | 1159 |
|---|---|
| Disease | acquired hemophilia |
| Case | (Waiting for update.) |