ectodermal dysplasia and immunodeficiency 1
MONDO:0020740Mondo
Findings
No curated finding names ectodermal dysplasia and immunodeficiency 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- X-linked recessive inheritance
- Onset and course
- Infantile onset · Neonatal onset · Childhood onset
HPO, annotations 2026-09-02
Features
56 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 natural killer cell physiologyHPOHP:0012177
- 7 of 7 reported patients
- Absent circulating isohemagglutininHPOHP:0410293
- 1 of 1 reported patient
- AnhidrosisHPOHP:0000970
- 2 of 2 reported patients
- Aplasia of the eccrine sweat glandsHPOHP:0040042
- 1 of 1 reported patient
- BacteremiaHPOHP:0031864
- 1 of 1 reported patient
- Bacterial cellulitisHPOHP:5210231
- 1 of 1 reported patient
- Bacterial meningitisHPOHP:5210217
- 1 of 1 reported patient
- BronchiectasisHPOHP:0002110
- 2 of 2 reported patients
- CellulitisHPOHP:0100658
- 1 of 1 reported patient
- Complete or near-complete absence of specific antibody response to unconjugated pneumococcus polysaccharideHPOHP:0410300
- 2 of 2 reported patients
- Conical incisorHPOHP:0011065
- 1 of 1 reported patient
- Conical primary incisorHPOHP:0011082
- 1 of 1 reported patient
Show the remaining 44
- Conical toothHPOHP:0000698
- 2 of 2 reported patients
- Decreased circulating IgA concentrationHPOHP:0002720
- 2 of 2 reported patients
- Decreased circulating IgG concentrationHPOHP:0004315
- 2 of 2 reported patients
- Decreased circulating IgG2 concentrationHPOHP:0008348
- 1 of 1 reported patient
- Dry skinHPOHP:0000958
- 1 of 1 reported patient
- Frontal bossingHPOHP:0002007
- 2 of 2 reported patients
Genes
1 gene
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.
- IKBKGHGNC:5961
- Definitive · G2P · X-linked · 2015
Where it sits
Other names
2 names
Resolves to: ectodermal dysplasia and immunodeficiency 1
- Also called
- ectodermal dysplasia and immunodeficiency 1, X-linked recessiveEDAID1