ORPHA:35909
Combined deficiency of factor V and factor VIII
Synonyms: F5F8D · FV and FVIII combined deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- All ages
- Status
- active
A rare inherited bleeding disorder due to the reduction in activity and antigen levels of both factor V (FV) and factor VIII (FVIII) and characterized by mild-to-moderate bleeding symptoms.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Combined deficiency of factor V and factor VIII | F5F8D · FV and FVIII combined deficiency |
| fr | Déficit combiné en facteurs V et VIII | Déficit combiné en FV et FVIII · F5F8D |
| de | Kombinierter Mangel an Faktor V und Faktor VIII | F5F8D · Faktor V und Faktor VIII, kombinierter Mangel |
| es | Deficiencia combinada de los factores V y VIII | Deficiencia combinada de FV y FVIII · F5F8D |
| it | Deficit combinato del fattore V e del fattore VIII | Deficit combinato di FV e FVIII · F5F8D |
| nl | Gecombineerde deficiëntie van factor V en factor VIII | F5F8D · Gecombineerde deficiëntie van FV en FVIII |
| pt | Deficiência combinada de fator V e fator VIII | Deficiência combinada FV e FVIII |
| pl | Złożony niedobór czynnika V i czynnika VII | = en |
| cs | Kombinovaný deficit faktoru V a VIII | F5F8D · Kombinovaný deficit FV a FVIII · Familiární mnohočetný deficit koagulačních faktorů |
| uk | Комбінований дефіцит фактора V і фактора VIII | F5F8D · Комбінована недостатність FV та FVIII |
| zh | 凝血因子Ⅴ+Ⅷ联合缺乏症 | 家族性混合凝血因子缺乏症 |
| tr | Faktör V ve faktör VIII'in kombine eksikliği | F5F8D · FV ve FVIII kombine eksiklik · Ailesel çoklu pıhtılaşma faktörü eksikliği |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 227300 | BTNT | validated | |
| OMIM | 227310 | BTNT | validated | |
| OMIM | 613625 | BTNT | validated | |
| ICD-10 | D68.8 | NTBT | attributed | validated |
| ICD-11 | 3B14.Z | NTBT | index | validated |
| MONDO | 0018175 | E | validated | |
| MeSH | C565577 | E | validated | |
| UMLS | C1856883 | 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
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| LMAN1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:6631 | ENSG00000074695 | 601567 | 18q21.32 | lectin, mannose binding 1 | 9546392[PMID]_16304051[PMID] |
| MCFD2 | Disease-causing germline mutation(s) in | Assessed | HGNC:18451 | ENSG00000180398 | 607788 | 2p21 | multiple coagulation factor deficiency 2, ER cargo receptor complex subunit | 12717434[PMID]_16304051[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.5 / 100 000 | Europe | Value and class | Validated | [EXPERT] |
| Point prevalence | 1-9 / 100 000 | 1 / 100 000 | Iran, Islamic Republic of | Value and class | Validated | 9531348[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
18 annotations · validated 2019-11-15| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003645 | Prolonged partial thromboplastin time | |
| HP:0008151 | Prolonged prothrombin time | |
| HP:0003225 | Reduced coagulation factor V activity | |
| HP:0003125 | Reduced factor VIII activity | |
| Frequent (79-30%) | ||
| HP:0011889 | Bleeding with minor or no trauma | |
| HP:0000978 | Bruising susceptibility | |
| HP:0000421 | Epistaxis | |
| HP:0000225 | Gingival bleeding | |
| HP:0006298 | Prolonged bleeding after dental extraction | |
| HP:0030137 | Prolonged bleeding following circumcision | |
| Occasional (29-5%) | ||
| HP:0002239 | Gastrointestinal hemorrhage | |
| HP:0000790 | Hematuria | |
| HP:0002170 | Intracranial hemorrhage | |
| HP:0005261 | Joint hemorrhage | |
| HP:0000132 | Menorrhagia | |
| HP:0004846 | Prolonged bleeding after surgery | |
| Very rare (<4-1%) | ||
| HP:0003077 | Hyperlipidemia | |
| HP:0002149 | Hyperuricemia | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 23852824[PMID]_26599105[PMID]_27894217[PMID]_31558466[PMID]_29896340[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/35909
- This record as JSON: /data/d/35909.json