Moderate hemophilia B
Synonyms: Moderate congenital F9 deficiency · Moderate congenital factor IX deficiency
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- X-linked recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A moderately severe form of hemophilia B characterized by factor IX deficiency (biological activity 1-5 IU/dL) leading to abnormal bleeding as a result of minor injuries or following trauma, surgery or tooth extraction. Spontaneous hemorrhages are rare. The condition primarily affects males but may also be observed in female carriers of disease-causing mutations.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Moderate hemophilia B | Moderate congenital F9 deficiency · Moderate congenital factor IX deficiency |
| fr | Hémophilie B modérée | Déficit congénital modéré en F9 · Déficit congénital modéré en facteur IX |
| de | Hämophilie B, mittelschwere | Faktor-IX-Mangel, kongenitaler, mittelschwerer · Mittelschwerer angeborener F9-Mangel |
| es | Hemofilia B moderada | Deficiencia moderada congénita de F9 · Deficiencia moderada congénita de factor IX |
| it | Emofilia B moderata | Deficit congenito moderato di F9 · Deficit congenito moderato del fattore IX |
| nl | Matige hemofilie B | Matige congenitale F9-deficiëntie · Matige congenitale deficiëntie van factor IX |
| pt | Hemofilia B moderada | Deficiência congénita moderada de F9 · Deficiência congénita moderada de factor IX |
| pl | Umiarkowanie ciężka hemofilia B | Umiarkowanie ciężki Niedobór czynnika IX |
| cs | Středně těžká hemofilie B | Středně těžký deficit faktoru IX |
| uk | Помірна гемофілія В | Помірний вроджений дефіцит F9 · Помірний вроджений дефіцит фактора IX |
| zh | 中重度血友病B型 | 中重度因子Ⅸ缺乏 |
| tr | Orta derecede ağır hemofili B | Orta derecede ağır faktör IX eksikliği |
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 |
| MONDO | 0015716 | E | validated | |
| UMLS | C5679575 | 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 | 1-9 / 1 000 000 | 0.6 / 100 000 | Europe | Value and class | 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/169796
- This record as JSON: /data/d/169796.json