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UVSS3
MCID: UVS003
MIFTS: 18
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Uv-Sensitive Syndrome 3 (UVSS3)
Categories:
Genetic diseases, Neuronal diseases, Rare diseases, Skin diseases
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MalaCards integrated aliases for Uv-Sensitive Syndrome 3:
Characteristics:OMIM:58
Inheritance:
autosomal recessive
Miscellaneous:
onset in infancy no predisposition to skin tumor development HPO:33
uv-sensitive syndrome 3:
Onset and clinical course infantile onset Inheritance autosomal recessive inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Skin diseases Neuronal diseases |
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OMIM
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58
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 of DNA damage in actively transcribing genes, although unscheduled DNA repair is normal. The cellular findings are consistent with a defect in transcription-coupled nucleotide excision repair (TC-NER) of UV damage (summary by Itoh et al., 1994 and Nakazawa et al., 2012).
For a general phenotypic description and a discussion of genetic heterogeneity of UVSS, see UVSS1 (600630). (614640)
MalaCards based summary : Uv-Sensitive Syndrome 3, is also known as uvss3, and has symptoms including dry skin An important gene associated with Uv-Sensitive Syndrome 3 is UVSSA (UV Stimulated Scaffold Protein A). Affiliated tissues include skin, and related phenotypes are dry skin and cutaneous photosensitivity UniProtKB/Swiss-Prot : 76 UV-sensitive syndrome 3: An autosomal recessive disorder characterized by cutaneous photosensitivity and slight dyspigmentation, without an increased risk of skin tumors. |
Diseases in the Uv-Sensitive Syndrome family:
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Human phenotypes related to Uv-Sensitive Syndrome 3:33
Symptoms via clinical synopsis from OMIM:58Clinical features from OMIM:614640UMLS symptoms related to Uv-Sensitive Syndrome 3:dry skin |
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MalaCards organs/tissues related to Uv-Sensitive Syndrome 3:42
Skin
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Genes related to Uv-Sensitive Syndrome 3 (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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UniProtKB/Swiss-Prot genetic disease variations for Uv-Sensitive Syndrome 3:76
ClinVar genetic disease variations for Uv-Sensitive Syndrome 3:6
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Search
GEO
for disease gene expression data for Uv-Sensitive Syndrome 3.
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