Details of Disease | DrugMAP

General Information of Disease (ID: DISYXTOW)

Disease Name	Immunodeficiency 93 and hypertrophic cardiomyopathy
Synonyms	IMD93; immunodeficiency and hypertrophic cardiomyopathy
Definition	An autosomal recessive disorder 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.
Disease Hierarchy	DIS093I0: Immunodeficiency DISYXTOW: Immunodeficiency 93 and hypertrophic cardiomyopathy
Disease Identifiers	MONDO ID MONDO_0030528 UMLS CUI C5676899 OMIM ID 619705 MedGen ID 1804175

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	Mutation of Fnip1 is associated with B-cell deficiency, cardiomyopathy, and elevated AMPK activity. Proc Natl Acad Sci U S A. 2016 Jun 28;113(26):E3706-15. doi: 10.1073/pnas.1607592113. Epub 2016 Jun 14.