Details of Disease

General Information of Disease (ID: DISL8N09)

Disease Name X-linked dyserythropoetic anemia with abnormal platelets and neutropenia
Synonyms XLANP; anemia, X-linked, with or without neutropenia and/or platelet abnormalities; anemia, X-linked, with/without neutropenia and/or platelet abnormalities, X-linked recessive
Disease Hierarchy
DISCRY6M: GATA1-Related X-Linked Cytopenia
DIS6FAT6: Congenital dyserythropoietic anemia
DISL8N09: X-linked dyserythropoetic anemia with abnormal platelets and neutropenia
Disease Identifiers
MONDO ID
MONDO_0010444
UMLS CUI
C3550856
OMIM ID
300835
MedGen ID
763770
Orphanet ID
363727

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 Supportive X-linked [1]
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References

1 An inherited mutation leading to production of only the short isoform of GATA-1 is associated with impaired erythropoiesis. Nat Genet. 2006 Jul;38(7):807-12. doi: 10.1038/ng1825. Epub 2006 Jun 18.