Dowling-Degos disease
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Reticular pigment anomaly of flexures |
| Number of Symptoms | 2 |
| OrphanetNr: | 79145 |
| OMIM Id: |
179850
615327 |
| ICD-10: |
L81.8 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
10068651 |
| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal dominant [Orphanet] |
| Age of onset: |
Adolescent Adult [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Congenital disorder of glycosylation with skin involvement
-Rare genetic disease -Rare skin disease Disorder of fucoglycosan synthesis -Rare genetic disease Genetic hyperpigmentation of the skin -Rare genetic disease Hyperpigmentation of the skin -Rare skin disease |
Symptom Information:
|
|
(HPO:0007456) | Progressive reticulate hyperpigmentation | 2 / 7739 | ||||
|
|
(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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