Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema
General Information (adopted from Orphanet):
| Synonyms, Signs: |
OLEDAID OL-EDA-ID |
| Number of Symptoms | 5 |
| OrphanetNr: | 69088 |
| OMIM Id: |
300301
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| ICD-10: |
Q78.2 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | 2 cases [Orphanet] |
| Inheritance: |
X-linked recessive [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Ectodermal dysplasia syndrome
-Rare developmental defect during embryogenesis -Rare genetic disease -Rare skin disease Osteopetrosis -Rare bone disease -Rare developmental defect during embryogenesis -Rare genetic disease Other immunodeficiency syndromes due to defects in innate immunity -Rare genetic disease -Rare immune disease Syndromic lymphedema -Rare circulatory system disease -Rare developmental defect during embryogenesis -Rare genetic disease -Rare skin disease |
Symptom Information:
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(HPO:0011002) | Osteopetrosis | 19 / 7739 | ||||
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(HPO:0000968) | Ectodermal dysplasia | 46 / 7739 | ||||
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(HPO:0001004) | Lymphedema | 62 / 7739 | ||||
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(HPO:0002719) | Recurrent infections | 107 / 7739 | ||||
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(HPO:0002721) | Immunodeficiency | 97 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Clinical Description OMIM |
Doffinger et al. (2001) examined 2 unrelated male patients who presented with the novel OLEDAID syndrome. Both were sons of mothers with mild incontinentia pigmenti (308300), and both died of overwhelming multiple infections at 2.5 and 1.5 years ... |
| Molecular genetics OMIM |
In 2 unrelated male patients with the OLEDAID syndrome, Doffinger et al. (2001) identified an X420W mutation in the IKBKG gene (300248.0002). Different alleles were present at the flanking polymorphic loci in the 2 patients, indicating 2 independent ... |