eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| factor v deficiency | ||||
| Disease ID | 603 |
|---|---|
| Disease | factor v deficiency |
| Definition | A deficiency of blood coagulation factor V (known as proaccelerin or accelerator globulin or labile factor) leading to a rare hemorrhagic tendency known as Owren's disease or parahemophilia. It varies greatly in severity. Factor V deficiency is an autosomal recessive trait. (Dorland, 27th ed) |
| Synonym | ac globulin deficiency accelerator globulin deficiency defic factor v deficiencies, factor v deficiencies, labile factor deficiency factor v deficiency, ac globulin deficiency, factor v deficiency, labile deficiency, labile factor deficiency, proaccelerin disease, owren disease, owren's factor v defic factor v deficiencies factor v deficiency (disorder) factor v deficiency [ambiguous] factor v deficiency [disease/finding] factor v deficiency, congenital factor v deficiency, nos hereditary factor v deficiency hereditary factor v deficiency disease hereditary factor v deficiency disease (disorder) hereditary hypoproaccelerinaemia hereditary hypoproaccelerinemia labile factor deficiencies labile factor deficiency labile factor deficiency (disorder) owren disease owren parahemophilia owren's disease owrens disease parahaemophilia parahemophilia parahemophilia, owren parahemophilias proaccelerin deficiency proaccelerin deficiency (disorder) reduced factor v activity |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0015499 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:4) C0086543 | cataracts | 1 C0272375 | antithrombin iii deficiency | 1 C0021053 | immune disease | 1 C0027022 | myeloproliferative neoplasms | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:10) |
| Locus | (Waiting for update.) |
| Disease ID | 603 |
|---|---|
| Disease | factor v deficiency |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:8) HP:0003225 | Reduced factor V activity HP:0003010 | Increased bleeding time HP:0003645 | Delayed thromboplastin generation HP:0008151 | Prolonged prothrombin time HP:0005542 | Prolonged whole-blood clotting time HP:0000132 | Hypermenorrhea HP:0000978 | Bruisability HP:0000421 | Bloody nose |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:6) |
| Disease ID | 603 |
|---|---|
| Disease | factor v deficiency |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:3) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:4) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs118203907 | NA | 2153 | F5 | umls:C0015499 | CLINVAR | NA | 0.501093978 | NA | F5 | 1 | 169530805 | T | C |
| rs118203908 | NA | 2153 | F5 | umls:C0015499 | CLINVAR | NA | 0.501093978 | NA | F5 | 1 | 169542689 | G | A |
| rs118203909 | NA | 2153 | F5 | umls:C0015499 | CLINVAR | NA | 0.501093978 | NA | F5 | 1 | 169541609 | G | A |
| rs118203910 | NA | 2153 | F5 | umls:C0015499 | CLINVAR | NA | 0.501093978 | NA | F5 | 1 | 169518453 | G | A |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:5) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0005542 | Prolonged whole-blood clotting time | MP:0005606 | increased bleeding time | greater than the normal duration of blood flow after skin puncture; indicative of platelet and capillary function |
| 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:0003010 | Prolonged bleeding time | MP:0005606 | increased bleeding time | greater than the normal duration of blood flow after skin puncture; indicative of platelet and capillary function |
| HP:0008151 | Prolonged prothrombin time | MP:0005606 | increased bleeding time | greater than the normal duration of blood flow after skin puncture; indicative of platelet and capillary function |
| HP:0000978 | Bruising susceptibility | MP:0005596 | increased susceptibility to type I hypersensitivity reaction | greater likelihood of developing a response manifested by localized or generalized reaction that occurs immediately (minutes) after exposure to an antigen to which the person/animal was previously sensitized; it is IgE-mediated, and mast cell activation a |
Mapped by homologous gene(Total Items:8) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000132 | Menorrhagia | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| HP:0008151 | Prolonged prothrombin time | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| HP:0000421 | Epistaxis | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| HP:0003010 | Prolonged bleeding time | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| HP:0000978 | Bruising susceptibility | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0003225 | Reduced factor V activity | 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:0005542 | Prolonged whole-blood clotting time | 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 |
| Disease ID | 603 |
|---|---|
| Disease | factor v deficiency |
| Case | (Waiting for update.) |