UV-SENSITIVE SYNDROME 2

General Information (adopted from Orphanet):

Synonyms, Signs: UVSS2
Number of Symptoms 7
OrphanetNr:
OMIM Id: 614621
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000992) Cutaneous photosensitivity 75 / 7739
2
(HPO:0001480) Freckling 13 / 7739
3
(HPO:0003224) Increased cellular sensitivity to UV light 8 / 7739
4
(HPO:0003593) Infantile onset 249 / 7739
5
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
6
(OMIM) No increased sensitivity to oxidative species 1 / 7739
7
(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-2 is an autosomal recessive disorder characterized by cutaneous photosensitivity and increased 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 Nardo et al. (2009) reported a 15-year-old French girl with UV-sensitive syndrome. She presented at age 4 months with sun sensitivity manifest as easy sun burning and erythema. She had numerous freckles on her face and exposed areas ...
Molecular genetics OMIM In a girl with UVSS2, Nardo et al. (2009) identified a homozygous mutation in the ERCC8 gene (W361C; 609412.0006). Nardo et al. (2009) hypothesized that the mild phenotype in this patient was due to the lack of cellular ...