ORPHA:98886
Bleeding diathesis due to integrin alpha2-beta1 deficiency
- Type
- Etiological subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant
- Status
- active
This disease is described under Bleeding diathesis due to a collagen receptor defect
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Bleeding diathesis due to integrin alpha2-beta1 deficiency | |
| fr | Troubles hémmoragiques par déficit en intégrine alpha2-bêta1 | |
| de | Hämorrhagische Diathese durch Integrin alpha2-beta1-Mangel | Integrin alpha2-beta1-Mangel |
| es | Deficiencia de integrina alfa2-beta1 | |
| it | Deficit di integrina alfa2-beta1 | |
| nl | Bloedingsdiathese door integrine alfa-2-bèta-1-deficiëntie | |
| pt | Diátese hemorrágica por deficiência de integrina alfa2-beta1 | Deficiência de integrina alfa2-beta1 |
| pl | Skaza krwotoczna z powodu niedoboru integryny alfa2-beta1 | |
| cs | Krvácivá diatéza způsobená deficitem integrinu alfa2-beta1 | |
| uk | Кровоточивий діатез, спричинений дефіцитом інтегрину альфа2-бета1 | |
| zh | 整合素α2-β1缺乏所致出血性倾向 | |
| tr | İntegrin alfa2-beta1 eksikliğine bağlı kanama diyatezi |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614200 | E | validated | |
| ICD-10 | D69.8 | NTBT | attributed | validated |
| ICD-11 | 3B62.Y | NTBT | index | validated |
| MONDO | 0013622 | E | validated | |
| UMLS | C3280114 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:73271Bleeding diathesis due to a collagen receptor defect
rare genetic diseases; rare hematological diseases
No children.
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/98886
- This record as JSON: /data/d/98886.json