Details of Disease | DrugMAP

General Information of Disease (ID: DISR0FN3)

Disease Name	Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
Synonyms	immunodeficiency 31C; candidiasis familial chronic mucocutaneous, autosomal dominant; candidiasis, familial chronic mucocutaneous, autosomal dominant; IMD31C; candidiasis familial, 7; familial chronic mucocutaneous, autosomal dominant; candidiasis, familial, 7; CANDF7; immunodeficiency type 31C; immunodeficiency 31C, chronic mucocutaneous candidiasis, autosomal dominant
Definition	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome is an extremely rare, autosomal dominant immunological disorder characterized by variable enteropathy, endocrine disorders (e.g. type 1 diabetes mellitus, hypothyroidism), immune dysregulation with pulmonary and blood-borne bacterial infections, and fungal infections (chronic mucocutaneous candidiasis) developing in infancy. Other manifestations include short stature, eczema, hepatosplenomegaly, delayed puberty, and osteoporosis/osteopenia.
Disease Hierarchy	DISPSGYF: Chronic mucocutaneous candidiasis DISXD5AM: Autoimmune enteropathy DISTWCN9: Autoimmune disorder of endocrine system DISCSHXL: Polyendocrinopathy DISR0FN3: Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
Disease Identifiers	MONDO ID MONDO_0013599 UMLS CUI C3279990 OMIM ID 614162 MedGen ID 481620 Orphanet ID 391487

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
STAT1	TTN7R6K	moderate	Biomarker	[1]
STAT1	TTN7R6K	Definitive	Autosomal dominant	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
STAT1	OTLMBUZ6	Definitive	Autosomal dominant	[2]
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References

1	Chronic mucocutaneous candidiasis due to gain-of-function mutation in STAT1.Oral Dis. 2019 Apr;25(3):684-692. doi: 10.1111/odi.12881. Epub 2018 Jun 8.
2	Chronic mucocutaneous candidiasis caused by a gain-of-function mutation in the STAT1 DNA-binding domain. J Immunol. 2012 Aug 1;189(3):1521-6. doi: 10.4049/jimmunol.1200926. Epub 2012 Jun 22.