ectodermal dysplasia and immune deficiency
MONDO:0010293Mondo
Findings
No curated finding names ectodermal dysplasia and immune deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
34 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal circulating immunoglobulin concentrationHPOHP:0010701
- Very frequent (80% to 99% of cases)
- Conical toothHPOHP:0000698
- Very frequent (80% to 99% of cases)
- Ectodermal dysplasiaHPOHP:0000968
- Very frequent (80% to 99% of cases)
- Failure to thriveHPOHP:0001508
- Very frequent (80% to 99% of cases)
- Growth delayHPOHP:0001510
- Very frequent (80% to 99% of cases)
- HypohidrosisHPOHP:0000966
- Very frequent (80% to 99% of cases)
- Recurrent bacterial infectionsHPOHP:0002718
- Very frequent (80% to 99% of cases)
- Sparse hairHPOHP:0008070
- Very frequent (80% to 99% of cases)
- Absent peripheral lymph nodes in presence of infectionHPOHP:0033581
- Frequent (30% to 79% of cases)
- Chronic diarrheaHPOHP:0002028
- Frequent (30% to 79% of cases)
- Increased total B cell countHPOHP:0005404
- Frequent (30% to 79% of cases)
- Increased total T cell countHPOHP:0100828
- Frequent (30% to 79% of cases)
Show the remaining 22
- Inflammation of the large intestineHPOHP:0002037
- Frequent (30% to 79% of cases)
- Recurrent mucocutaneous candidiasisHPOHP:0002728
- Frequent (30% to 79% of cases)
- Recurrent mycobacterial infectionsHPOHP:0011274
- Frequent (30% to 79% of cases)
- Recurrent otitis mediaHPOHP:0000403
- Frequent (30% to 79% of cases)
- AutoimmunityHPOHP:0002960
- Occasional (5% to 29% of cases)
- Decreased circulating IgA concentrationHPOHP:0002720
- Occasional (5% to 29% of cases)
Genes
2 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
Where it sits
Other names
6 names
Resolves to: ectodermal dysplasia and immune deficiency
- Also called
- anhidrotic ectodermal dysplasia with immune deficiencyanhidrotic ectodermal dysplasia with immunodeficiencyEDA-IDHED-IDhypohidrotic ectodermal dysplasia with immune deficiencyhypohidrotic ectodermal dysplasia with immunodeficiency