FNIP1-associated syndrome
Findings
No curated finding names FNIP1-associated syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0100432), read 2026-09-29. CC BY 4.0.
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- FNIP1HGNC:29418
- Definitive · ClinGen · Autosomal recessive · 2024
Where it sits
- A kind of
Other names
3 names
Resolves to: FNIP1-associated syndrome
- Also called
- absent B cells, agammaglobulinemia, and hypertrophic cardiomyopathy syndromeFNIP1 deficiencyimmunodeficiency with cardiomyopathy and pre-excitation syndrome