Disease #02231 (IPEX (immunodysregulation, polyendocrinopathy, and enteropathy, X-linked (IPEX)), OMIM:304790)

Official abbreviation IPEX
Name immunodysregulation, polyendocrinopathy, and enteropathy, X-linked (IPEX)
OMIM ID 304790
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 0
Phenotype entries for this disease 0
Associated with 1 gene FOXP3
Associated tissues -
Disease features an X-linked recessive immunologic disorder characterized by onset in infancy of severe diarrhea due to enteropathy, type 1 diabetes mellitus, and dermatitis; other features may include hypothyroidism, autoimmune hemolytic anemia, thrombocytopenia, lymphadenopathy, hepatitis, nephritis
Remarks -