Details of Disease

General Information of Disease (ID: DIS1BZF4)

• Disease Name: Thrombocytopenia, X-linked, with or without dyserythropoietic anemia
• Synonyms: XLTDA; X-linked thrombocytopenia, with or without dyserythropoietic Anemia; thrombocytopenia, X-linked, with or without dyserythropoietic anemia; X-linked thrombocytopenia, with or without dyserythropoietic Anaemia; thrombocytopenia, X-linked, with or without dyserythropoietic anemia, X-linked recessive
• Definition: An X-linked condition caused by mutation(s) in the GATA1 gene, encoding erythroid transcription factor. It is characterized by thrombocytopenia, as well as abnormal platelet function and morphology. Dyserythropoietic anemia of variable severity may also be present.
• Disease Hierarchy:
  DISANU9Q: Inherited thrombocytopenia
  DIS1BZF4: Thrombocytopenia, X-linked, with or without dyserythropoietic anemia
• Disease Identifiers:
  MONDO ID: MONDO_0010308
  UMLS CUI: C3550789
  OMIM ID: 300367
  MedGen ID: 763703

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
GATA1	OTX1R7O1	Strong	X-linked	[1]

References

• [1] Analysis of disease-causing GATA1 mutations in murine gene complementation systems. Blood. 2013 Jun 27;121(26):5218-27. doi: 10.1182/blood-2013-03-488080. Epub 2013 May 23.