Mild hemophilia B
Synonyms: Mild congenital F9 deficiency · Mild congenital factor IX deficiency
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- X-linked recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A mild form of hemophilia B characterized by a small deficiency of factor IX (biological activity between 5 and 40 IU/dL) leading to abnormal bleeding as a result of minor injuries or following trauma, surgery or tooth extraction. Spontaneous hemorrhages do not occur. The condition may affect males and female carriers of disease-causing mutations.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Mild hemophilia B | Mild congenital F9 deficiency · Mild congenital factor IX deficiency |
| fr | Hémophilie B mineure | Déficit congénital mineur en F9 · Déficit congénital mineur en facteur IX |
| de | Hämophilie B, milde | Faktor-IX-Mangel, kongenitaler, milder · Milder angeborener F9-Mangel |
| es | Hemofilia B leve | Deficiencia leve congénita de F9 · Deficiencia leve congénita de factor IX |
| it | Emofilia B lieve | Deficit congenito lieve del fattore IX · Deficit congenito lieve di F9 |
| nl | Milde hemofilie B | Milde congenitale F9-deficiëntie · Milde congenitale deficiëntie van factor IX |
| pt | Hemofilia B ligeira | Deficiência congénita ligeira de F9 · Deficiência congénita ligeira de factor IX |
| pl | Łagodna hemofilia B | Łagodny Niedobór czynnika IX |
| cs | Mírná hemofilie B | Mírný deficit faktoru IX |
| uk | Легка гемофілія В | Легкий вроджений дефіцит F9 · Легкий вроджений дефіцит фактора IX |
| zh | 轻度血友病B型 | 轻度因子Ⅸ缺乏 |
| tr | Hafif hemofili B | Hafif 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 | 0015717 | E | validated | |
| UMLS | C5679574 | 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/169799
- This record as JSON: /data/d/169799.json