FNIP1-associated syndrome

MONDO:0100432

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.

Also known as: FNIP1 deficiency, absent B cells, agammaglobulinemia, and hypertrophic cardiomyopathy syndrome, immunodeficiency with cardiomyopathy and pre-excitation syndrome

0 clinical trials for this condition and its sub-types, 0 tagged with FNIP1-associated syndrome itself.

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↑ Immunodeficiency disease (779)

Including sub-types (0) Tagged with FNIP1-associated syndrome (0)

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