Details of Disease | DrugMAP

General Information of Disease (ID: DISGS5A3)

Disease Name	Agammaglobulinemia 8, autosomal dominant
Synonyms	agammaglobulinemia, autosomal dominant, due to TCF3 defect; AGM8; TCF3 autosomal agammaglobulinemia; autosomal agammaglobulinemia caused by mutation in TCF3; agammaglobulinemia 8, autosomal dominant; AGM8; agammaglobulinemia 8, autosomal dominant
Definition	Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the TCF3 gene.
Disease Hierarchy	DISRW8BT: Autosomal agammaglobulinemia DISGS5A3: Agammaglobulinemia 8, autosomal dominant
Disease Identifiers	MONDO ID MONDO_0014840 UMLS CUI C4310786 OMIM ID 616941 MedGen ID 934753

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
TCF3	TTULOD8	Strong	Autosomal dominant	[1]
TCF3	TTULOD8	Strong	Biomarker	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
TCF3	OTW6FR32	Strong	Autosomal dominant	[1]
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References

1	Agammaglobulinemia associated with BCR? B cells and enhanced expression of CD19. Blood. 2011 Aug 18;118(7):1828-37. doi: 10.1182/blood-2011-01-330472. Epub 2011 Jun 21.
2	Epistatic interactions between mutations of TACI (TNFRSF13B) and TCF3 result in a severe primary immunodeficiency disorder and systemic lupus erythematosus.Clin Transl Immunology. 2017 Oct 20;6(10):e159. doi: 10.1038/cti.2017.41. eCollection 2017 Oct.