has material basis in germline mutation in disease has basis in disruption of disease caused by disruption of FNIP1 immunodeficiency disease FNIP1-associated syndrome https://github.com/monarch-initiative/mondo/issues/10250 https://github.com/monarch-initiative/mondo/issues/4021 https://github.com/monarch-initiative/mondo/issues/5261 https://www.malacards.org/card/immunodeficiency_93_and_hypertrophic_cardiomyopathy OMIM:619705 immunodeficiency with cardiomyopathy and pre-excitation syndrome MONDO:0100432 IMD93 Any immunodeficiency in which the cause of the disease is a mutation in the FNIP1 gene, characterized by onset of recurrent viral and bacterial infections, particularly with encapsulated bacteria, and hypertrophic cardiomyopathy in the first months or years of life. Immunologic workup typically shows decreased circulating B cells and hypo- or agammaglobulinemia, sometimes with neutropenia or T-cell lymphocytosis, although laboratory findings may be variable among patients. Ig replacement therapy is beneficial. Cardiac involvement can also include atrial septal defect, valvular insufficiency, and pre-excitation syndrome. Rare myopathic or neurologic involvement has been reported, but these features are not consistently part of the disorder and may be related to other genetic defects. 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. Orphanet:693647 DOID:0061063 UMLS:C5676899 absent B cells, agammaglobulinemia, and hypertrophic cardiomyopathy syndrome FNIP1 deficiency MEDGEN:1804175 immunodeficiency and hypertrophic cardiomyopathy immunodeficiency 93 and hypertrophic cardiomyopathy