Hypohidrotic ectodermal dysplasia with immunodeficiency
General Information (adopted from Orphanet):
| Synonyms, Signs: |
HED-ID EDA-ID Anhidrotic ectodermal dysplasia with immunodeficiency |
| Number of Symptoms | 5 |
| OrphanetNr: | 98813 |
| OMIM Id: |
300291
612132 |
| ICD-10: |
D82.8 |
| UMLs: |
|
| MeSH: |
|
| MedDRA: |
|
| Snomed: |
|
Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal dominant X-linked recessive [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Hypohidrotic ectodermal dysplasia
-Rare developmental defect during embryogenesis -Rare eye disease -Rare genetic disease -Rare skin disease Other immunodeficiency syndromes due to defects in innate immunity -Rare genetic disease -Rare immune disease |
Symptom Information:
|
|
(HPO:0000968) | Ectodermal dysplasia | 46 / 7739 | ||||
|
|
(HPO:0002961) | Dysgammaglobulinemia | 3 / 7739 | ||||
|
|
(HPO:0002719) | Recurrent infections | 107 / 7739 | ||||
|
|
(HPO:0002721) | Immunodeficiency | 97 / 7739 | ||||
|
|
(HPO:0001419) | X-linked recessive inheritance | 189 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|