Severe hemophilia B
Synonyms: Severe congenital F9 deficiency · Severe congenital factor IX deficiency
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- X-linked recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A severe form of hemophilia B characterized by a large deficiency of factor IX (biological activity <1 IU/dL) leading to frequent spontaneous hemorrhage and abnormal bleeding as a result of minor injuries or following trauma, surgery or tooth extraction. It 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 | Severe hemophilia B | Severe congenital F9 deficiency · Severe congenital factor IX deficiency |
| fr | Hémophilie B sévère | Déficit congénital sévère en F9 · Déficit congénital sévère en facteur IX |
| de | Hämophilie B, schwere | Faktor-IX-Mangel, kongenitaler, schwerer · Schwerer angeborener F9-Mangel |
| es | Hemofilia B grave | Deficiencia grave congénita de F9 · Deficiencia grave congénita de factor IX |
| it | Emofilia B grave | Deficit congenito grave del fattore IX · Deficit congenito grave di F9 |
| nl | Ernstige hemofilie B | Ernstige congenitale F9-deficiëntie · Ernstige congenitale deficiëntie van factor IX |
| pt | Hemofilia B grave | Deficiência congénita grave de F9 · Deficiência congénita grave de factor IX |
| pl | Ciężka hemofilia B | Ciężki Niedobór czynnika IX |
| cs | Těžká hemofilie B | Těžký deficit faktoru IX |
| uk | Важка форма гемофілії В | Тяжкий вроджений дефіцит F9 · Тяжкий вроджений дефіцит фактора IX |
| zh | 重度血友病B型 | 重度因子Ⅸ缺乏 |
| tr | Ağır hemofili B | 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 | 0015715 | E | validated | |
| UMLS | C5679576 | 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 | 0.8 / 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/169793
- This record as JSON: /data/d/169793.json