← Back to Conditions
Hypohidrotic ectodermal dysplasia with immune deficiency
disorderSNOMED 703525006CUI C1846006
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Aplasia of the eccrine sweat glands
Always present (100%)HP:0040042
Frontal protuberance
Always present (100%)HP:0002007
Lymphatic obstruction
Always present (100%)HP:0001004
Pointed front tooth
Always present (100%)HP:0011065
Reduced natural killer cell activity
Always present (100%)HP:0012177
Abnormal immunoglobulin concentration
Very frequent (80-99%)HP:0010701
Ectodermal dysplasia
Very frequent (80-99%)HP:0000968
Hypohidrosis
Very frequent (80-99%)HP:0000966
Increased serum IgA
Very frequent (80-99%)HP:0003261
Peg-shaped teeth
Very frequent (80-99%)HP:0000698
Poor weight gain
Very frequent (80-99%)HP:0001508
Prone to bacterial infection
Very frequent (80-99%)HP:0002718
Retarded growth
Very frequent (80-99%)HP:0001510
Thin, sparse hair
Very frequent (80-99%)HP:0008070
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
Inflammatory bowel disease
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
Autoimmunity
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
Dystrophic nails
Occasional (5-29%)HP:0008404
Eczema
Occasional (5-29%)HP:0000964
Feeding difficulties in infancy
Occasional (5-29%)HP:0008872
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.