XERODERMA PIGMENTOSUM, AUTOSOMAL DOMINANT, MILD

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 7
OrphanetNr:
OMIM Id: 194400
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0001480) Freckling 13 / 7739
2
(OMIM) Hyperpigmentation 24 / 7739
3
(OMIM) Severe erythema response to sunlight 1 / 7739
4
(OMIM) Squamous epitheliomas 1 / 7739
5
(MedDRA:10048220) Xeroderma pigmentosum 1 / 7739
6
(OMIM) Multiple skin cancers 1 / 7739
7
(OMIM) Variable cellular sensitivity to ultraviolet light 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM In addition to the usual severe, recessively inherited xeroderma pigmentosum (278700-278780), the existence of a milder form behaving as a dominant was claimed by Anderson and Begg (1950) who described 11 affected persons in 5 sibships of 4 ...