Details of Disease

General Information of Disease (ID: DIST4IL8)

• Disease Name: Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
• Synonyms: IPEX syndrome; enteropathy, autoimmune, with hemolytic Anemia and polyendocrinopathy; Iddm-secretory diarrhoea syndrome; Immunodysregulation, polyendocrinopathy and enteropathy X-linked; IDDM secretory diarrhoea syndrome; IMMUNODYSREGULATION, polyendocrinopathy, and enteropathy, X-linked; Iddm-secretory diarrhea syndrome; polyendocrinopathy, immune dysfunction and diarrhoea X-linked; enteropathy, autoimmune, with hemolytic Anaemia and polyendocrinopathy; polyendocrinopathy, immune dysfunction, and diarrhea, X-linked; polyendocrinopathy, immune dysfunction and diarrhea X-linked; immunodeficiency, polyendocrinopathy, and enteropathy, X-linked, formerly; islets of Langerhans, absence of; autoimmunity-immunodeficiency syndrome X-linked; IDDM secretory diarrhea syndrome; diarrhea, polyendocrinopathy, fatal infection syndrome, X-linked; immune dysfunction and diarrhea syndrome; XLAAD; immunodysregulation, polyendocrinopathy, and enteropathy, X-linked; immune dysfunction and diarrhoea syndrome; IDDM-secretory diarrhea syndrome; X linked polyendocrinopathy; immune dysregulation, polyendocrinopathy, and enteropathy X-linked syndrome; XPID; X-linked autoimmunity-allergic dysregulation syndrome; autoimmune enteropathy type 1; IDDM-secretory diarrhoea syndrome; diabetes mellitus, congenital insulin-dependent, with fatal secretory diarrhoea; immunodeficiency, polyendocrinopathy, and enteropathy, X-linked; immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, X-linked recessive; IPEX; diabetes mellitus, congenital insulin-dependent, with fatal secretory diarrhea; autoimmunity-immunodeficiency syndrome, X-linked; DMSD
• Definition: Immunodysregulation - polyendocrinopathy - enteropathy - X-linked (IPEX) syndrome is a severe congenital systemic autoimmune disease characterized by refractory diarrhea, endocrinopathies, cutaneous involvement, and infections.
• Disease Hierarchy:
  DIS6SVEE: Syndromic disease
  DISYKSRF: Genetic disease
  DISXD5AM: Autoimmune enteropathy
  DISTWCN9: Autoimmune disorder of endocrine system
  DISCSHXL: Polyendocrinopathy
  DISEDL2I: Hypersensitivity
  DIST4IL8: Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0010580
  MESH ID: C580192
  UMLS CUI: C0342288
  OMIM ID: 304790
  MedGen ID: 83339
  Orphanet ID: 37042
  SNOMED CT ID: 724276006

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
PLA2R1	TTHKW7D	moderate	Biomarker	[1]
FOXP3	TT1X3QF	Definitive	X-linked	[2]

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
NUDT10	OT61XMYC	moderate	Biomarker	[3]
FOXP3	OTA9Z9OC	Definitive	X-linked	[2]

References

• [1] PLA2R-positive (primary) membranous nephropathy in a child with IPEX syndrome.Pediatr Nephrol. 2017 Sep;32(9):1621-1624. doi: 10.1007/s00467-017-3682-8. Epub 2017 May 9.
• [2] Mutational analysis of the FOXP3 gene and evidence for genetic heterogeneity in the immunodysregulation, polyendocrinopathy, enteropathy syndrome. J Clin Endocrinol Metab. 2003 Dec;88(12):6034-9. doi: 10.1210/jc.2003-031080.
• [3] Autoimmune polyglandular syndromes.Nat Rev Endocrinol. 2010 May;6(5):270-7. doi: 10.1038/nrendo.2010.40. Epub 2010 Mar 23.