UV-SENSITIVE SYNDROME 1

General Information (adopted from Orphanet):

Synonyms, Signs: UVSS1
Number of Symptoms 6
OrphanetNr:
OMIM Id: 600630
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
Heterogeneous
[Omim]
Age of onset: Infantile onset
[Omim]

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0001009) Telangiectasia 46 / 7739
2
(HPO:0001480) Freckling 13 / 7739
3
(HPO:0000958) Dry skin 152 / 7739
4
(HPO:0000992) Cutaneous photosensitivity 75 / 7739
5
(HPO:0003224) Increased cellular sensitivity to UV light 8 / 7739
6
(OMIM) Cells show defective transcription-coupled nucleotide excision repair (TC-NER) after UV irradiation 3 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) UV-sensitive syndrome-1 is an autosomal recessive disorder characterized by cutaneous photosensitivity and mild freckling, without an increased risk of skin tumors. Patient cells show impaired recovery of RNA synthesis (RRS) after UV irradiation due to defective preferential repair ...
Clinical Description OMIM Fujiwara et al. (1981) reported a Japanese boy, born of consanguineous parents, with UV sensitivity syndrome. The patient exhibited a number of freckles, hypopigmented spots, telangiectasia, and slightly dried skin in sun-exposed areas, but no growth retardation or ...
Molecular genetics OMIM To identify the gene responsible for UV-sensitive syndrome, Horibata et al. (2004) performed a microcell-mediated chromosome transfer based on the functional complementation of UV hypersensitivity. They found that a cell line from the patient described by Fujiwara et ...