Details of Disease | DrugMAP

General Information of Disease (ID: DISLUBYN)

Disease Name	PAX5-related B lymphopenia and autism spectrum disorder
Synonyms	hypogammaglobulinemia and autism spectrum disorder
Definition	PAX5 deficiency causing neurodevelopmental abnormalities including autism spectrum disorder in addition to hypogammaglobulinemia due to early B cell developmental block and impaired immune responses.
Disease Hierarchy	DISYOKTG: Mendelian neurodevelopmental disorder DISV2QZL: B cell deficiency DISXK8NV: Autism spectrum disorder DISLUBYN: PAX5-related B lymphopenia and autism spectrum disorder

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
PAX5	TTA4REJ	Moderate	Autosomal recessive	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PAX5	OTYBJJWX	Moderate	Autosomal recessive	[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.