ORPHA:326
Congenital factor V deficiency
Synonyms: Owren disease · Parahemophilia · Proaccelerin deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- All ages
- Status
- active
Congenital factor V deficiency is an inherited bleeding disorder due to reduced plasma levels of factor V (FV) and characterized by mild to severe bleeding symptoms.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital factor V deficiency | Owren disease · Parahemophilia · Proaccelerin deficiency |
| fr | Déficit congénital en facteur V | Déficit en proaccélerine · Maladie d'Owren · Parahémophilie |
| de | Faktor V-Mangel, kongenitaler | Owren-Krankheit · Parahämophilie · Proaccelerinmangel |
| es | Deficiencia congénita del factor V | Deficiencia de proacelerina · Enfermedad de Owren · Parahemofilia |
| it | Deficit congenito del fattore V | Deficit di proaccelerina · Malattia di Owren · Paraemofilia |
| nl | Congenitale factor V-deficiëntie | Parahemofilie · Proaccelerinedeficiëntie · Ziekte van Owren |
| pt | Deficiência de fator V congénita | Disfunção plaquetária tipo Quebec |
| pl | Wrodzony Niedobór czynnika V | Choroba Owrena · Niedobór proakceleryny · Parahemofilia |
| cs | Vrozený deficit faktoru V | Owrenova nemoc · Parahemofilie · Deficit proakcelerinu · Owrenova parahemofilie |
| uk | Вроджений дефіцит фактора V | Хвороба Оурена · Парагемофілія · Дефіцит проакцелерину |
| zh | 先天性V因子缺乏症 | 促凝血球蛋白原缺乏症 |
| tr | Doğumsal faktör V eksikliği | Owren hastalığı · Parahemofili · Proaccelerin eksikliği |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 227400 | E | validated | |
| ICD-10 | D68.2 | NTBT | attributed | validated |
| ICD-11 | 3B14.Z | NTBT | index | validated |
| MONDO | 0009210 | E | validated | |
| MeSH | D005166 | E | validated | |
| UMLS | C0015499 | E | validated | |
| GARD | 2237 | E | validated | |
| MedDRA | 10048930 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:68334Rare hemorrhagic disorder due to a constitutional coagulation factors defect
rare genetic diseases; rare hematological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| F5 | Disease-causing germline mutation(s) in | Assessed | HGNC:3542 | ENSG00000198734 | 612309 | 1q24.2 | coagulation factor V |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.1 / 100 000 | Europe | Value and class | Validated | ORPHANET_19598066[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.
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HPO phenotypes
19 annotations · validated 2019-11-04| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0000421 | Epistaxis | |
| HP:0005261 | Joint hemorrhage | |
| Occasional (29-5%) | ||
| HP:0000978 | Bruising susceptibility | |
| HP:0002239 | Gastrointestinal hemorrhage | |
| HP:0000225 | Gingival bleeding | |
| HP:0000790 | Hematuria | |
| HP:0000132 | Menorrhagia | |
| HP:0030140 | Oral cavity bleeding | |
| HP:0001934 | Persistent bleeding after trauma | |
| HP:0011891 | Post-partum hemorrhage | |
| HP:0006298 | Prolonged bleeding after dental extraction | |
| HP:0004846 | Prolonged bleeding after surgery | |
| HP:0030137 | Prolonged bleeding following circumcision | |
| HP:0011890 | Prolonged bleeding following procedure | |
| HP:0007420 | Spontaneous hematomas | |
| Very rare (<4-1%) | ||
| HP:0002573 | Hematochezia | |
| HP:0002105 | Hemoptysis | |
| HP:0002170 | Intracranial hemorrhage | |
| HP:0100608 | Metrorrhagia | |
Annotation source: 26376169[PMID]_28270373[PMID]_31121608[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/326
- This record as JSON: /data/d/326.json