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Metadata
ID DOID:0090110
Name immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
Definition An autoimmune disease that is characterized by onset in infancy of refractory diarrhea, endocrinopathies, type 1 diabetes mellitus, and dermatitis that has material_basis_in X-linked recessive mutation in the forkhead box P3 (FOXP3) gene on chromosome Xp11.
https://ghr.nlm.nih.gov/condition/immune-dysregulation-polyendocrinopathy-enteropathy-x-linked-syndrome, https://www.omim.org/entry/304790
Xrefs

GARD:1850

ICD10CM:E31.0

OMIM:304790

ORDO:37042

Synonyms

Autoimmune enteropathy type 1 [EXACT]

autoimmunity-immunodeficiency syndrome, X-linked [EXACT]

diabetes mellitus, congenital insulin-dependent, with fatal secretory diarrhea [EXACT]

diarrhea, polyendocrinopathy, fatal infection syndrome, X-linked [EXACT]

DMSD [EXACT]

IDDM-secretory diarrhea syndrome [EXACT]

immunodeficiency, polyendocrinopathy, and enteropathy, X-linked [EXACT]

immunodysregulation, polyendocrinopathy, and enteropathy, X-Linked [EXACT]

IPEX [EXACT]

X-linked autoimmunity-allergic dysregulation syndrome [EXACT]

XLAAD [EXACT]

XPID [EXACT]

Parent Relationships

is_a autoimmune disease

is_a X-linked recessive disease

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