Details of Disease

General Information of Disease (ID: DISHTE4E)

Disease Name Platelet-type bleeding disorder 17
Synonyms
bleeding disorder, platelet-type, 17; thrombasthenia-thrombocytopenia, hereditary; platelet-type bleeding disorder 17; hereditary thrombasthenia-thrombocytopenia; bleeding disorder, platelet-type 17; BDPLT17; inherited bleeding disorder, platelet-type caused by mutation in GFI1B; GFI1B inherited bleeding disorder, platelet-type
Definition
An autosomal dominant condition caused by mutation(s) in the GFI1B gene, encoding zinc finger protein Gfi-1b. It is characterized by a tendency for increased bleeding due to abnormal platelet function.
Disease Hierarchy
DISIUNXT: Inherited bleeding disorder, platelet-type
DISHTE4E: Platelet-type bleeding disorder 17
Disease Identifiers
MONDO ID
MONDO_0008553
MESH ID
C566060
UMLS CUI
C1861194
OMIM ID
187900
MedGen ID
396078

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
GFI1B OTRDW8YO Definitive Autosomal dominant [1]
------------------------------------------------------------------------------------

References

1 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.