Details of Disease

General Information of Disease (ID: DISCRY6M)

Disease Name GATA1-Related X-Linked Cytopenia
Synonyms GATA1-Related Cytopenia; GATA1-Related X-Linked Cytopenia
Definition
X-Linked cytopenia characterized by anemia and/or thrombocytopenia. Additional features including platelet dysfunction, dyserythropoesis, mild beta-thalassemia, neutropenia, or congenital erythropoetic porphyria may be present. These GATA1 variants are germline as opposed to GATA1 variants seen in leukemia.
Disease Hierarchy
DISYKSRF: Genetic disease
DIS9XD9A: Hematologic disease
DISCRY6M: GATA1-Related X-Linked Cytopenia
Disease Identifiers
MONDO ID
MONDO_0100089
MESH ID
C564525
UMLS CUI
C1845837
MedGen ID
335283
SNOMED CT ID
713388002

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 Definitive X-linked [1]
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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.