Bleeding disorder in hemophilia A carriers
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- X-linked recessive
- Age of onset
- All ages
- Status
- active
A rare bleeding disorder in association with carrier mutations in the <i>F8</i> gene (Xq28) encoding coagulation factor VIII (FVIII), with a biological activity of FVIII ≥40 IU/dL and characterized clinically by abnormal bleeding as a result of minor injuries or following trauma, surgery or tooth extraction. Spontaneous hemorrhages may occur occasionally. Heavy menstrual bleeding is the most frequent type of bleed in the carriers.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Bleeding disorder in hemophilia A carriers | |
| fr | Maladie hémorragique des porteurs d'hémophilie A | |
| de | Symptomatische Form der Hämophilie A bei weiblichen Anlageträgerinnen | Blutungsstörung bei Anlageträgerinnen der Hämophilie A |
| es | Trastorno de sangrado en portadores de hemofilia A | |
| it | Malattia emorragica nelle portatrici di emofilia A | |
| nl | Stollingsstoornis bij dragers van hemofilie A | |
| pt | Doença hemorrágica em portador hemofilia A | |
| pl | Objawowa forma hemofilii A u kobiet nosicielek | Krwawienie u nosicieli hemofilii A |
| cs | Porucha krvácení u nositelů hemofilie A | |
| uk | Порушення згортання крові у носіїв гемофілії А | |
| zh | 女性A型血友病女携带者症候 | |
| tr | Kadın taşıyıcılarda hemofili A'nın semptomatik formu | Bleeding disorder in hemophilia A carriers without Factor VIII deficiency · Symptomatic form of hemophilia A in female carriers |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 306700 | NTBT | validated | |
| ICD-10 | D66 | NTBT | attributed | validated |
| ICD-11 | 3B10.0 | NTBT | index | validated |
| UMLS | C5680504 | 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:98878Hemophilia A
rare genetic diseases; rare hematological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| F8 | Disease-causing germline mutation(s) in | Assessed | HGNC:3546 | ENSG00000185010 | 300841 | Xq28 | coagulation factor VIII | 20301578[PMID]_25611311[PMID]_19302446[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | 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.
HPO phenotypes
12 annotations · validated 2020-02-24| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000978 | Bruising susceptibility | |
| HP:0003125 | Reduced factor VIII activity | |
| Frequent (79-30%) | ||
| HP:0001892 | Abnormal bleeding | |
| HP:0000421 | Epistaxis | |
| HP:0000132 | Menorrhagia | |
| HP:0011891 | Post-partum hemorrhage | |
| HP:0006298 | Prolonged bleeding after dental extraction | |
| HP:0004846 | Prolonged bleeding after surgery | |
| HP:0011890 | Prolonged bleeding following procedure | |
| Occasional (29-5%) | ||
| HP:0005261 | Joint hemorrhage | |
| HP:0003645 | Prolonged partial thromboplastin time | |
| Very rare (<4-1%) | ||
| HP:0007420 | Spontaneous hematomas | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 13739554[PMID]_16551972[PMID]_20301578[PMID]_25832012[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/177926
- This record as JSON: /data/d/177926.json