Details of Disease | DrugMAP

General Information of Disease (ID: DISRZURH)

Disease Name	FNIP1-associated syndrome
Synonyms	FNIP1 deficiency; immunodeficiency with cardiomyopathy and pre-excitation syndrome; absent B cells, agammaglobulinemia, and hypertrophic cardiomyopathy syndrome
Definition	Any immunodeficiency in which the cause of the disease is a mutation in the FNIP1 gene. Disruption of Folliculin Interacting Protein 1 alters the essential metabolic regulators AMPK and mTOR, resulting in profound B-cell deficiency, hypertrophic cardiomyopathy, and pre-excitation syndrome.
Disease Hierarchy	DIS093I0: Immunodeficiency DISRZURH: FNIP1-associated syndrome

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
FNIP1	OTB1CC41	Strong	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.