UV-SENSITIVE SYNDROME 3

General Information (adopted from Orphanet):

Synonyms, Signs: UVSS3
Number of Symptoms 8
OrphanetNr:
OMIM Id: 614640
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:0001009) Telangiectasia 46 / 7739
2
(HPO:0001480) Freckling 13 / 7739
3
(HPO:0000992) Cutaneous photosensitivity 75 / 7739
4
(HPO:0000958) Dry skin 152 / 7739
5
(HPO:0003224) Increased cellular sensitivity to UV light 8 / 7739
6
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
7
(OMIM) Cells show defective transcription-coupled nucleotide excision repair (TC-NER) after UV irradiation 3 / 7739
8
(HPO:0003593) Infantile onset 249 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) UV-sensitive syndrome-3 is an autosomal recessive disorder characterized by cutaneous photosensitivity and slight dyspigmentation, 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. (1985) reported a 16-year-old Japanese girl (XP24KO) with mild photosensitivity reminiscent of xeroderma pigmentosum (see, e.g., 278700). She had an acute sun sensitivity reaction without blistering at age 1 year. Small pigmented freckles and telangiectases ...
Molecular genetics OMIM By exome sequencing of 2 cell lines (Kps3 and XP24KO) derived from 2 unrelated patients with UV-sensitive syndrome-3, Nakazawa et al. (2012) identified a homozygous truncating mutation in the UVSSA gene (K123X; 614632.0001). The patients had previously been ...