Disseminated superficial actinic porokeratosis
General Information (adopted from Orphanet):
Synonyms, Signs: |
|
Number of Symptoms | 10 |
OrphanetNr: | 79152 |
OMIM Id: |
175900
607728 612293 612353 614714 |
ICD-10: |
Q82.8 |
UMLs: |
C0265970 |
MeSH: |
|
MedDRA: |
|
Snomed: |
41495000 |
Prevalence, inheritance and age of onset:
Prevalence: | No data available. |
Inheritance: |
Autosomal dominant [Orphanet] |
Age of onset: |
|
Disease classification (adopted from Orphanet):
Parent Diseases: |
Genetic porokeratosis
-Rare genetic disease Porokeratosis -Rare skin disease |
Symptom Information:
|
(HPO:0008065) | Aplasia/Hypoplasia of the skin | Very frequent [Orphanet] | 81 / 7739 | |||
|
(HPO:0008404) | Nail dystrophy | rare [HPO:skoehler] | 89 / 7739 | |||
|
(HPO:0000989) | Pruritus | Frequent [Orphanet] | 111 / 7739 | |||
|
(HPO:0200044) | Porokeratosis | 11 / 7739 | ||||
|
(HPO:0000992) | Cutaneous photosensitivity | Frequent [Orphanet] | 75 / 7739 | |||
|
(HPO:0000962) | Hyperkeratosis | Very frequent [Orphanet] | 216 / 7739 | |||
|
(HPO:0008069) | Neoplasm of the skin | Occasional [Orphanet] | 84 / 7739 | |||
|
(HPO:0004370) | Abnormality of temperature regulation | Very frequent [Orphanet] | 58 / 7739 | |||
|
(HPO:0030350) | Erythematous papule | Very frequent [Orphanet] | 123 / 7739 | |||
|
(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
---|