East Texas bleeding disorder
Synonyms: FV East Texas bleeding disorder · Factor V East Texas bleeding disorder
- Type
- Etiological subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood
- Status
- active
East Texas bleeding disorder is a rare, genetic, coagulation disorder characterized by easy bruising (without hemarthrosis or spontaneous hematomas), epistaxis, menorrhagia, and excessive bleeding after minor trauma and surgical procedures. Patients present a prolonged prothrombin time and/or activated partial thromboplastin time, normal levels of all coagulation factors, and normal protein C activity.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | East Texas bleeding disorder | FV East Texas bleeding disorder · Factor V East Texas bleeding disorder |
| fr | Maladie hémorragique de l'est du Texas | Coagulopathie de l'est du Texas · Maladie hémorragique du FV de l'est du Texas · Maladie hémorragique du facteur V de l'est du Texas |
| de | Gerinnungsstörung vom Ost-Texanischen Typ | Faktor V Ost-Texas-Variante · Gerinnungsstörung, Faktor V-East-Texas |
| es | Trastorno de sangrado del este de Texas | Trastorno de sangrado FV del este de Texas · Trastorno de sangrado de factor V del este de Texas |
| it | Disturbo emorragico del Texas dell'Est | Disturbo emorragico del fattore V del Texas dell'Est · Disturbo emorragico del FV del Texas dell'Est |
| nl | Oost-Texas-bloedingsstoornis | FV Oost-Texas-bloedingsstoornis · Factor V Oost-Texas-bloedingsstoornis |
| pt | Doença hemorrágica do leste do Texas | Doença hemorrágica do leste do Texas FV · Doença hemorrágica do leste do Texas factor V |
| pl | Skaza krwotoczna Zachodniego Teksasu | = en |
| cs | East Texas krvácivá porucha | Východotexaská krvácivá porucha |
| uk | Хвороба кровотечі Східного Техасу | |
| zh | 东德克萨斯出血性疾病 | |
| tr | Doğu Teksas kanama bozukluğu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 605913 | E | validated | |
| ICD-10 | D68.2 | NTBT | attributed | validated |
| ICD-11 | 3B14.Z | NTBT | attributed | validated |
| MONDO | 0011615 | E | validated | |
| UMLS | C4750854 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:599519Factor V short isoforms-related bleeding disorder
rare genetic diseases; rare hematological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| F5 | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:3542 | ENSG00000198734 | 612309 | 1q24.2 | coagulation factor V | 23979162[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 19 cases | Worldwide | Case(s) | Validated | 23979162[PMID]_25634741[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_25634741[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/391320
- This record as JSON: /data/d/391320.json