Additional Resources

Section

Get Information about a Rare Disease

Use the form below to explore NORD's comprehensive rare disease database. Search for detailed information on rare diseases, including NORD's authoritative Rare Disease Reports and data from other reliable sources.
* = NORD Rare Disease Report

Interested in exploring the database in detail?
Click here to explore the database in alphabetical order.

NORD Summit 2026 Banner Ad

immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome

The information provided on this page is for informational purposes only. The National Organization for Rare Disorders (NORD) does not endorse the information presented. The content has been gathered in partnership with the MONDO Disease Ontology. Please consult with a healthcare professional for medical advice and treatment.

Connect & Download

Disease Overview

Immunodysregulation – polyendocrinopathy – enteropathy – X-linked (IPEX) syndrome is a severe congenital systemic autoimmune disease characterized by refractory diarrhea, endocrinopathies, cutaneous involvement, and infections.

Synonyms

  • DMSD
  • IDDM secretory diarrhea syndrome
  • IDDM secretory diarrhoea syndrome
  • IDDM-secretory diarrhea syndrome
  • IDDM-secretory diarrhoea syndrome
  • IMMUNODYSREGULATION, polyendocrinopathy, and enteropathy, X-linked
  • IPEX
  • IPEX syndrome
  • Iddm-secretory diarrhea syndrome
  • Iddm-secretory diarrhoea syndrome
  • Immunodysregulation, polyendocrinopathy and enteropathy X-linked
  • X linked polyendocrinopathy
  • X-linked autoimmunity-allergic dysregulation syndrome
  • XLAAD
  • XPID
  • autoimmune enteropathy type 1
  • autoimmunity-immunodeficiency syndrome X-linked
  • autoimmunity-immunodeficiency syndrome, X-linked
  • diabetes mellitus, congenital insulin-dependent, with fatal secretory diarrhea
  • diabetes mellitus, congenital insulin-dependent, with fatal secretory diarrhoea
  • diarrhea, polyendocrinopathy, fatal infection syndrome, X-linked
  • enteropathy, autoimmune, with hemolytic Anaemia and polyendocrinopathy
  • enteropathy, autoimmune, with hemolytic Anemia and polyendocrinopathy
  • immune dysfunction and diarrhea syndrome
  • immune dysfunction and diarrhoea syndrome
  • immune dysregulation, polyendocrinopathy, and enteropathy X-linked syndrome
  • immunodeficiency, polyendocrinopathy, and enteropathy, X-linked
  • immunodeficiency, polyendocrinopathy, and enteropathy, X-linked, formerly
  • immunodysregulation, polyendocrinopathy, and enteropathy, X-linked
  • immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, X-linked recessive
  • islets of Langerhans, absence of
  • polyendocrinopathy, immune dysfunction and diarrhea X-linked
  • polyendocrinopathy, immune dysfunction and diarrhoea X-linked
  • polyendocrinopathy, immune dysfunction, and diarrhea, X-linked
GARD Disease Summary

The Genetic and Rare Diseases Information Center (GARD) has information and resources for patients, caregivers, and families that may be helpful before and after diagnosis of this condition. GARD is a program of the National Center for Advancing Translational Sciences (NCATS), part of the National Institutes of Health (NIH).

View report
Orphanet

Orphanet has a summary about this condition that may include information on the diagnosis, care, and treatment as well as other resources. Some of the information and resources are available in languages other than English. The summary may include medical terms, so we encourage you to share and discuss this information with your doctor. Orphanet is the French National Institute for Health and Medical Research and the Health Programme of the European Union.

View report
OMIM

Online Mendelian Inheritance In Man (OMIM) has a summary of published research about this condition and includes references from the medical literature. The summary contains medical and scientific terms, so we encourage you to share and discuss this information with your doctor. OMIM is authored and edited at the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine.

View report
GeneReviews

GeneReviews has an article on this condition covering diagnosis, management, and inheritance. Each article is written by one or more experts on the specific disease and is reviewed by other specialists. The article contains medical and scientific terms, so we encourage you to share and discuss this information with your doctor. The GeneReviews database is managed by the University of Washington.

View report
MedlinePlus

MedlinePlus has information about this condition that may include a description, frequency, causes, inheritance, and links to more information. The information is written for the public, including patients, caregivers and families. MedlinePlus is a service of the National Library of Medicine (NLM), which is part of the National Institutes of Health (NIH).

View report
Sign Up for NORD News

Access State Report Card Data

Please complete this form to access the requested resource.

Please consider sharing some basic information with us.

Name(Required)
Consent(Required)
This field is hidden when viewing the form