X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome

disorder

SNOMED 724276006CUI C0342288

Overview

X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome is a disorder.

Auto-generated from clinical reference data. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Chronic diarrhoea

Always present (100%)HP:0002028

Autoimmunity

Very frequent (80-99%)HP:0002960

Abnormality of ion homeostasis

Frequent (30-79%)HP:0003111

Abnormality of the intestine

Frequent (30-79%)HP:0002242

Allergy

Frequent (30-79%)HP:0012393

Anti-glutamic acid decarboxylase antibody positivity

Frequent (30-79%)HP:0025329

Anti-thyroid peroxidase antibody positivity

Frequent (30-79%)HP:0025379

Atrophy of small intestinal villi

Frequent (30-79%)HP:0011473

Crusting erythematous dermatitis

Frequent (30-79%)HP:0007473

Decreased double-negative T cell proportion

Frequent (30-79%)HP:0031401

Dermatitis

Frequent (30-79%)HP:0000964

Endocrine system disease

Frequent (30-79%)HP:0000818

Failure to thrive in first year of life

Frequent (30-79%)HP:0001531

High immunoglobulin E

Frequent (30-79%)HP:0003212

Inflammatory abnormality of the skin

Frequent (30-79%)HP:0011123

Iron-deficiency anaemia

Frequent (30-79%)HP:0001891

Low number of red blood cells or haemoglobin

Frequent (30-79%)HP:0001903

Poor weight gain

Frequent (30-79%)HP:0001508

Reaction to food allergens

Frequent (30-79%)HP:0500093

Secretory diarrhea

Frequent (30-79%)HP:0005208

Thyroid gland inflammation

Frequent (30-79%)HP:0100646

Type I diabetes mellitus

Frequent (30-79%)HP:0100651

Unusual course of infection

Frequent (30-79%)HP:0032169

Anti-liver cytosolic antigen type 1 antibody positivity

Occasional (5-29%)HP:0030909

Arthritis

Occasional (5-29%)HP:0001369

Autoimmune haemolytic anemia

Occasional (5-29%)HP:0001890

Blister

Occasional (5-29%)HP:0008066

Cachexia

Occasional (5-29%)HP:0004326

Cognitive delay

Occasional (5-29%)HP:0001263

Decreased circulating prealbumin concentration

Occasional (5-29%)HP:0031085

Related Conditions

Congenital immunodeficiency disease(parent)

Immunodeficiency associated with chromosomal abnormality(parent)

Autoimmune enteropathy(parent)

Autoimmune endocrine disease(parent)

Digestive system hereditary disorder(parent)

Hereditary disorder of endocrine system(parent)

Hereditary disorder of immune system(parent)

X-linked recessive hereditary disease(parent)

Disorder of digestive system specific to fetus OR newborn(parent)

Quick Facts

SNOMED CT: 724276006
UMLS CUI: C0342288
Fully Specified Name: X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 30

Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.