raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
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
LangNameSynonyms
enBleeding diathesis due to integrin alpha2-beta1 deficiency
frTroubles hémmoragiques par déficit en intégrine alpha2-bêta1
deHämorrhagische Diathese durch Integrin alpha2-beta1-MangelIntegrin alpha2-beta1-Mangel
esDeficiencia de integrina alfa2-beta1
itDeficit di integrina alfa2-beta1
nlBloedingsdiathese door integrine alfa-2-bèta-1-deficiëntie
ptDiátese hemorrágica por deficiência de integrina alfa2-beta1Deficiência de integrina alfa2-beta1
plSkaza krwotoczna z powodu niedoboru integryny alfa2-beta1
csKrvácivá diatéza způsobená deficitem integrinu alfa2-beta1
ukКровоточивий діатез, спричинений дефіцитом інтегрину альфа2-бета1
zh整合素α2-β1缺乏所致出血性倾向
trİntegrin alfa2-beta1 eksikliğine bağlı kanama diyatezi
2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
OMIM614200Evalidated
ICD-10D69.8NTBTattributedvalidated
ICD-113B62.YNTBTindexvalidated
MONDO0013622Evalidated
UMLSC3280114Evalidated

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):

No children.

4

Genes

0 direct

Orphanet records no gene directly on this code.

5

Prevalence and incidence

0 records

No prevalence record in this release.

6

HPO phenotypes

Orphanet has no HPO annotation for this code in this release.

7

Sources for this card