Bleeding disorder in hemophilia B carriers
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- X-linked recessive
- Status
- active
A rare bleeding disorder in association with carrier mutations in the <i>F9</i> gene (Xq27.1) encoding coagulation factor IX (FIX), with a biological activity of FIX ≥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 B carriers | |
| fr | Maladie hémorragique des porteurs d'hémophilie B | |
| de | Symptomatische Form der Hämophilie B bei weiblichen Anlageträgerinnen | Blutungsstörung bei Anlageträgerinnen der Hämophilie B |
| es | Trastorno de sangrado en portadores de hemofilia B | |
| it | Malattia emorragica nelle portatrici di emofilia B | |
| nl | Stollingsstoornis bij dragers van hemofilie B | |
| pt | Doença hemorrágica em portador hemofilia B | |
| pl | Objawowa forma hemofilii B u kobiet nosicielek | Krwawienie u nosicieli hemofilii B |
| cs | Porucha krvácení u nositelů hemofilie B | |
| uk | Порушення згортання крові у носіїв гемофілії В | |
| zh | 女性B型血友病携带者症候 | |
| tr | Kadın taşıyıcılarda hemofili B'nin semptomatik formu | Bleeding disorder in hemophilia B carriers without Factor IX deficiency · Symptomatic form of hemophilia B in female carriers |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 306900 | NTBT | validated | |
| ICD-10 | D67 | NTBT | attributed | validated |
| ICD-11 | 3B11.0 | NTBT | index | validated |
| UMLS | C5680505 | 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:98879Hemophilia B
rare genetic diseases; rare hematological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| F9 | Disease-causing germline mutation(s) in | Assessed | HGNC:3551 | ENSG00000101981 | 300746 | Xq27.1 | coagulation factor IX |
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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/177929
- This record as JSON: /data/d/177929.json