UV-sensitive syndrome

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 10
OrphanetNr: 178338
OMIM Id: 600630
614621
614640
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 7 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic photodermatosis
 -Rare genetic disease
Rare photodermatosis
 -Rare skin disease

Symptom Information: Sort by abundance 

1
 (HPO:0001009) Telangiectasia 46 / 7739
2
 (HPO:0007623) Pigmentation anomalies of sun-exposed skin 1 / 7739
3
 (HPO:0001480) Freckling 13 / 7739
4
 (HPO:0000958) Dry skin 152 / 7739
5
 (HPO:0000992) Cutaneous photosensitivity 75 / 7739
6
 (HPO:0003224) Increased cellular sensitivity to UV light 8 / 7739
7
 (HPO:0002664) Neoplasm 111 / 7739
8
 (HPO:0003593) Infantile onset 249 / 7739
9
 (HPO:0001425) Heterogeneous 132 / 7739
10
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: