Details of Disease

General Information of Disease (ID: DISNM782)

Disease Name Beta-thalassemia-X-linked thrombocytopenia syndrome
Synonyms
thrombocytopenia with BETA-thalassemia, X-linked; thrombocytopenia, Platelet dysfunction, hemolysis, and Imbalanced globin synthesis; XLTT; X-linked thrombocytopenia with Beta-thalassemia; thrombocytopenia with beta-thalassemia, X-linked, X-linked recessive
Definition
Beta-thalassemia - X-linked thrombocytopenia is a form of beta-thalassemia characterized by splenomegaly and petechiae, moderate thrombocytopenia, prolonged bleeding time due to platelet dysfunction, reticulocytosis and mild beta-thalassemia.
Disease Hierarchy
DISCRY6M: GATA1-Related X-Linked Cytopenia
DISQEXHO: Beta-thalassemia and related diseases
DISNM782: Beta-thalassemia-X-linked thrombocytopenia syndrome
Disease Identifiers
MONDO ID
MONDO_0010745
MESH ID
C564050
UMLS CUI
C1839161
OMIM ID
314050
MedGen ID
326415
Orphanet ID
231393
SNOMED CT ID
718196002

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
GATA1 OTX1R7O1 Moderate X-linked [1]
------------------------------------------------------------------------------------

References

1 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.