Xeroderma pigmentosum, variant type

Preferred Label : Xeroderma pigmentosum, variant type;

Symbol : XPV;

CISMeF acronym : XPV;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Photosensitivity with defective dna synthesis; Xeroderma pigmentosum with normal dna repair rates;

Description : Xeroderma pigmentosum is an autosomal recessive disorder characterized by increased sensitivity to sunlight and defects in DNA repair. For a general overview of the disorder, see XPA (278700). Some patients with xeroderma pigmentosum have been found to have normal DNA excision repair, but defective postreplication repair (Lehman et al., 1975). This XP 'variant' class is characterized by a defect in conversion of newly synthesized DNA from low to high molecular weight after UV irradiation (Masutani et al., 1999). So-called 'pigmentary xerodermoid' is apparently identical to the XP variant, which is characterized by loss of a gene product that permits normal cells to replicate DNA without interruption at UV-damaged sites (Cleaver et al., 1980).;

Inheritance : Autosomal recessive;

Prefixed ID : #278750;

Details

Origin ID

278750;

UMLS CUI

C1848410;

Automatic exact mappings (from CISMeF team)
- POLH wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Xeroderma Pigmentosum Variant Type [NCIt concept]
- Xeroderma pigmentosum variant [ORDO Disease]
- Xeroderma pigmentosum, variant type [MeSH concept]
- xeroderma pigmentosum variant type [DO Concept]
- xeroderma pigmentosum variant type [Disease (Nov.)]
- xeroderma pigmentosum, variant type [MeSH Supplementary Concept]
DO Cross reference
- xeroderma pigmentosum variant type [DO Concept]
Genes related to phenotype
- Polymerase, dna, eta [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Basal cell carcinoma [HPO term]
- Conjunctivitis [HPO term]
- Cutaneous melanoma [HPO term]
- Cutaneous photosensitivity [HPO term]
- Dermal atrophy [HPO term]
- Ectropion [HPO term]
- Entropion [HPO term]
- Keratitis [HPO term]
- Photophobia [HPO term]
- Poikiloderma [HPO term]
- Squamous cell carcinoma [HPO term]
- Telangiectasia [HPO term]
- Xeroderma pigmentosum [HPO term]
Not associated HPO term(s)
- Growth delay [HPO term]
- Microcephaly [HPO term]
ORDO concept(s)
- Xeroderma pigmentosum variant [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Xeroderma Pigmentosum Variant Type [NCIt concept]
- Xeroderma pigmentosum variant [ORDO Disease]
- Xeroderma pigmentosum, variant type [MeSH concept]
- xeroderma pigmentosum variant type [DO Concept]
- xeroderma pigmentosum variant type [Disease (Nov.)]
- xeroderma pigmentosum, variant type [MeSH Supplementary Concept]
Validated automatic mappings to NTBT
- xeroderma pigmentosum [Disease (Nov.)]

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