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Disseminated superficial actinic porokeratosis
5 OMIM references -
1 associated gene
11 connected diseases
8 signs/symptoms
Disease Type of connection
Hyperimmunoglobulinemia D with periodic fever
Mevalonic aciduria
Desmoplastic small round cell tumor
Ewing sarcoma
Extraskeletal Ewing sarcoma
Extraskeletal myxoid chondrosarcoma
Melanoma of soft part
B-cell chronic lymphocytic leukemia
Glutathione synthetase deficiency with 5-oxoprolinuria
Glutathione synthetase deficiency without 5-oxoprolinuria
Brain demyelination due to methionine adenosyltransferase deficiency
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare genetic disease
- Rare skin disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
External references:
5 OMIM references -
No MeSH references
Gene symbol UniProt reference OMIM reference
MVK Q03426251170
Very frequent
- Follicular / erythematous / edematous papules / milium
- Hyperkeratosis / ainhum / hyperkeratotic skin fissures
- Hypohidrosis / decreased sweating / thermoregulation disorder / heat intolerance
- Skin hypoplasia / aplasia / atrophy

Frequent
- Pruritus / itching
- Skin photosensitivity

Occasional
- Autosomal dominant inheritance
- Skin / cutaneous neoplasm / tumor / carcinoma / cancer (excluding melanoma)