ORPHA:327
Congenital factor VII deficiency
Synonyms: Congenital proconvertin deficiency · Hypoproconvertinemia
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- All ages
- Status
- active
A rare, genetic, congenital vitamin K-dependant coagulation factor deficiency disorder characterized by decreased levels or absence of coagulation factor VII (FVII), resulting in bleeding diathesis of variable severity.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital factor VII deficiency | Congenital proconvertin deficiency · Hypoproconvertinemia |
| fr | Déficit congénital en facteur VII | Déficit constitutionnel en proconvertine · Hypoproconvertinémie |
| de | Faktor VII-Mangel, kongenitaler | Hypoprokonvertinämie · Prokonvertin-Mangel, konstitutioneller |
| es | Deficiencia congénita del factor VII | |
| it | Deficit congenito del fattore VII | Deficit costituzionale di proconvertina · Ipoproconvertinemia |
| nl | Congenitale factor VII-deficiëntie | Congenitale factor 7-deficiëntie · Congenitale proconvertinedeficiëntie · Hypoproconvertinemie |
| pt | Deficiência de fator VII congénita | Deficiência de proconvertina congénita · Hipoproconvertinemia |
| pl | Wrodzony Niedobór czynnika VII | Hipoprokonwertynemia · Wrodzony Niedobór prokonwertyny |
| cs | Vrozený deficit faktoru VII | Hypoprokonvertinémie · Dědičný deficit prokonvertinu |
| uk | Вроджений дефіцит фактора VII | Вроджений дефіцит проконвертину · Гіпопроконвертинемія |
| zh | 先天性VII因子缺乏症 | 先天性转变加速因子缺乏症 |
| tr | Doğumsal faktör VII eksikliği | Hipoprokonvertinemi · Doğumsal prokonvertin eksikliği |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 227500 | E | validated | |
| ICD-10 | D68.2 | NTBT | attributed | validated |
| ICD-11 | 3B14.Z | NTBT | index | validated |
| MONDO | 0009211 | E | validated | |
| MeSH | D005168 | E | validated | |
| UMLS | C0015503 | E | validated | |
| GARD | 2238 | E | validated | |
| MedDRA | 10016079 | 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:169826Congenital vitamin K-dependent coagulation factors deficiency
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 |
|---|---|---|---|---|---|---|---|---|
| F7 | Disease-causing germline mutation(s) in | Assessed | HGNC:3544 | ENSG00000057593 | 613878 | 13q34 | coagulation factor VII |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.33 / 100 000 | Europe | Value and class | Validated | [EXPERT] |
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
12 annotations · validated 2017-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002239 | Gastrointestinal hemorrhage | |
| HP:0002170 | Intracranial hemorrhage | |
| Frequent (79-30%) | ||
| HP:0000978 | Bruising susceptibility | |
| HP:0000421 | Epistaxis | |
| HP:0000225 | Gingival bleeding | |
| HP:0005261 | Joint hemorrhage | |
| HP:0000132 | Menorrhagia | |
| HP:0004846 | Prolonged bleeding after surgery | |
| HP:0008151 | Prolonged prothrombin time | |
| Occasional (29-5%) | ||
| HP:0010881 | Abnormality of the umbilical cord | |
| HP:0000138 | Ovarian cyst | |
| HP:0011891 | Post-partum hemorrhage | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 19141157[PMID]_28350321[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/327
- This record as JSON: /data/d/327.json