ORPHA:599579
Factor V Amsterdam bleeding disorder
Synonyms: FV Amsterdam bleeding disorder
- Type
- Etiological subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant
- Age of onset
- No data available
- Status
- active
Orphadata ships no English definition for this code.
1
Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Factor V Amsterdam bleeding disorder | FV Amsterdam bleeding disorder |
| fr | Maladie hémorragique du facteur V d'Amsterdam | Maladie hémorragique du FV d'Amsterdam |
| de | Gerinnungsstörung, Faktor V-Amsterdam | |
| es | Trastorno de sangrado asociado al factor V tipo Amsterdam | Trastorno de sangrado asociado al FV tipo Amsterdam |
| it | Malattia emorragica del fattore V di Amsterdam | Malattia emorragica del FV di Amsterdam |
| nl | Stollingsstoornis door factor V Amsterdam | Stollingsstoornis door FV Amsterdam |
| pt | Doença hemorrágica factor V Amesterdão | Doença hemorrágica FV Amesterdão |
| pl | Skaza krwotoczna czynnik V Amsterdam | = en |
| cs | Krvácivá porucha faktor V Amsterdam | = en |
| uk | Порушення згортання крові за фактором V Амстердам |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | D68.4 | NTBT | attributed | validated |
| ICD-11 | 3B14.Z | NTBT | attributed | validated |
| MONDO | 0035743 | E | validated | |
| UMLS | C5681605 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
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.
4
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 | 25634741[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 25634741[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 25634741[PMID]_ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/599579
- This record as JSON: /data/d/599579.json