Hypohidrotic ectodermal dysplasia with immune deficiency

disorder

SNOMED 703525006CUI C1846006

Overview

By MedlinePlus, National Library of Medicine

Courtesy of the National Library of Medicine. Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

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

Aplasia of the eccrine sweat glands

Always present (100%)HP:0040042

Conical incisor

Always present (100%)HP:0011065

Frontal protuberance

Always present (100%)HP:0002007

Onset of lymphedema around puberty

Always present (100%)HP:0001004

Reduced natural killer cell activity

Always present (100%)HP:0012177

Abnormal immunoglobulin concentration

Very frequent (80-99%)HP:0010701

Decreased sweating

Very frequent (80-99%)HP:0000966

Ectodermal dysplasia

Very frequent (80-99%)HP:0000968

Hypotrichosis

Very frequent (80-99%)HP:0008070

Increased serum IgA

Very frequent (80-99%)HP:0003261

Peg-shaped teeth

Very frequent (80-99%)HP:0000698

Poor growth

Very frequent (80-99%)HP:0001510

Poor weight gain

Very frequent (80-99%)HP:0001508

Recurrent bacterial infections

Very frequent (80-99%)HP:0002718

Absent peripheral lymph nodes in presence of infection

Frequent (30-79%)HP:0033581

Chronic diarrhoea

Frequent (30-79%)HP:0002028

Increase in T cell count

Frequent (30-79%)HP:0100828

Increased number of B cells

Frequent (30-79%)HP:0005404

Inflammation of the large intestine

Frequent (30-79%)HP:0002037

Molluscum contagiosum

Frequent (30-79%)HP:0032163

Mucocutaneous candidiasis

Frequent (30-79%)HP:0002728

Recurrent middle ear infection

Frequent (30-79%)HP:0000403

Recurrent mycobacterial infections

Frequent (30-79%)HP:0011274

Autoimmune disorder

Occasional (5-29%)HP:0002960

Decreased circulating immunoglobulin concentration

Occasional (5-29%)HP:0004313

Decreased circulating total IgM

Occasional (5-29%)HP:0002850

Decreased serum IgG

Occasional (5-29%)HP:0004315

Dependant oedema

Occasional (5-29%)HP:0010741

Dermatitis

Occasional (5-29%)HP:0000964

Dystrophic nails

Occasional (5-29%)HP:0008404

Related Conditions

Anhidrotic ectodermal dysplasia with immune deficiency due to NFKBIA gain of function mutation(child)

Anhidrotic ectodermal dysplasia with immune deficiency due to IKBKB GOF mutation(child)

Congenital immunodeficiency disease(parent)

Ectodermal syndrome with hair-tooth-sweating defects(parent)

Primary immune deficiency disorder(parent)

Genetic disease(parent)

Quick Facts

SNOMED CT: 703525006
UMLS CUI: C1846006
Fully Specified Name: Anhidrotic ectodermal dysplasia with immune deficiency (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.