Details of Disease | DrugMAP

General Information of Disease (ID: DIS9NMM4)

Disease Name	Thrombocytopenia with congenital dyserythropoietic anemia
Synonyms	X-linked congenital dyserythropoietic anemia with thrombocytopenia; congenital dyserythropoietic anaemia with thombocytopenia; X-linked congenital dyserythropoietic anaemia with thrombocytopenia; XDAT; congenital dyserythropoietic anemia with thombocytopenia
Definition	Thrombocytopenia with congenital dyserythropoietic anemia (CDA) is a rare hematological disorder, seen almost exclusively in males, characterized by moderate to severe thrombocytopenia with hemorrhages with or without the presence of mild to severe anemia.
Disease Hierarchy	DISCRY6M: GATA1-Related X-Linked Cytopenia DIS6FAT6: Congenital dyserythropoietic anemia DIS1BZF4: Thrombocytopenia, X-linked, with or without dyserythropoietic anemia DIS9NMM4: Thrombocytopenia with congenital dyserythropoietic anemia
Disease Identifiers	MONDO ID MONDO_0019031 UMLS CUI C4302508 MedGen ID 928177 Orphanet ID 67044 SNOMED CT ID 722475006

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	Clinical Practice Guidelines for Rare Diseases: The Orphanet Database. PLoS One. 2017 Jan 18;12(1):e0170365. doi: 10.1371/journal.pone.0170365. eCollection 2017.