Mild hemophilia A
Synonyms: Mild congenital F8 deficiency · Mild congenital factor VIII deficiency
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- X-linked recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A mild form of hemophilia A characterized by a small deficiency of factor VIII (biological activity between 5 and 40 IU/dL) leading to abnormal bleeding as a result of minor injuries or following surgery or tooth extraction. Spontaneous hemorrhages do not occur. Patients may be also labeled as having mild hemophilia A if they have a FVIII >40 IU/dL and a DNA change in the F8 gene and one of the following: (i) a family member with the same DNA change and FVIII of <40 IU/dL, and the DNA change is found in <1% of the population; and (ii) the international databases list the DNA change as being associated with hemophilia A and <40 IU/dL FVIII. 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 A | Mild congenital F8 deficiency · Mild congenital factor VIII deficiency |
| fr | Hémophilie A mineure | Déficit congénital mineur en F8 · Déficit congénital mineur en facteur VIII |
| de | Hämophilie A, milde | Faktor-VIII-Mangel, kongenitaler, milder · Milder angeborener F8-Mangel |
| es | Hemofilia A leve | Deficiencia leve congénita de F8 · Deficiencia leve congénita de factor VIII |
| it | Emofilia A lieve | Deficit congenito lieve del fattore VIII · Deficit congenito lieve di F8 |
| nl | Milde hemofilie A | Milde congenitale F8-deficiëntie · Milde congenitale deficiëntie van factor VIII |
| pt | Hemofilia A ligeira | Deficiência congénita ligeira de F8 · Deficiência congénita ligeira de factor VIII |
| pl | Łagodna hemofilia A | Łagodny Niedobór czynnika VIII |
| cs | Mírná hemofilie A | Mírný deficit faktoru VIII |
| uk | Легка гемофілія А | Легка вроджена недостатність F8 · Легкий вроджений дефіцит фактора VIII |
| zh | 轻度血友病A型 | 轻度因子VIII缺乏 |
| tr | Hafif hemofili A | Hafif faktör VIII eksikliği |
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 | attributed | validated |
| MONDO | 0015721 | E | validated | |
| UMLS | C0272324 | 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] |
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/169808
- This record as JSON: /data/d/169808.json