Porokeratosis

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 8
OrphanetNr: 79358
OMIM Id:
ICD-10: Q82.8
UMLs: C0162839
MeSH: D017499
MedDRA: 10036175
Snomed: 400080004

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Epidermal disease
 -Rare skin disease

Symptom Information: Sort by abundance 

1
 (HPO:0000962) Hyperkeratosis Very frequent [Orphanet] 216 / 7739
2
 (HPO:0008069) Neoplasm of the skin Occasional [Orphanet] 84 / 7739
3
 (HPO:0001031) Subcutaneous lipoma Very frequent [Orphanet] 112 / 7739
4
 (HPO:0001000) Abnormality of skin pigmentation Frequent [Orphanet] 105 / 7739
5
 (HPO:0008065) Aplasia/Hypoplasia of the skin Frequent [Orphanet] 81 / 7739
6
 (HPO:0000992) Cutaneous photosensitivity Frequent [Orphanet] 75 / 7739
7
 (HPO:0000989) Pruritus Frequent [Orphanet] 111 / 7739
8
 (HPO:0030350) Erythematous papule Frequent [Orphanet] 123 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: