Xeroderma pigmentosum, Complementation group C

Preferred Label : Xeroderma pigmentosum, Complementation group C;

Symbol : XPC;

CISMeF acronym : XPC; XP3;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : XPCC; Xeroderma pigmentosum III; Xp, group C; XP3;

Description : Xeroderma pigmentosum is a genetically heterogeneous condition characterized by increased sensitivity to ultraviolet (UV) irradiation and increased risk of skin cancer resulting from a defect in DNA repair. XPC is the most common form of XP in the white population, accounting for over a third of all cases in this group (review by Li et al., 1993). For a general discussion of xeroderma pigmentosum, see XPA (278700).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the XPC complex subunit, DNA damage recognition and repair factor gene (XPC, 613208.0001);

Prefixed ID : #278720;

Details

Origin ID

278720;

UMLS CUI

C2752147;

Automatic exact mappings (from CISMeF team)
- DNA Repair Protein Complementing XP-C Cells [NCIt concept]
- XPC Gene [NCIt concept]
- XPC complex subunit, DNA damage recognition and repair factor [HGNC gene]
- XPC wt Allele [NCIt concept]
- Xeroderma Pigmentosum [NCIt concept]
- Xeroderma pigmentosum [PASCAL descriptor]
- xeroderma pigmentosum [MeSH Descriptor]
- xeroderma pigmentosum [MeSH concept]
Currated CISMeF NLP mapping
- XPC complex subunit, DNA damage recognition and repair factor [ORDO Gene]
- Xeroderma Pigmentosum, Complementation Group C [NCIt concept]
- Xeroderma pigmentosum C [ICD-11 More detail]
- Xeroderma pigmentosum complementation group C [ORDO Disease]
- Xeroderma pigmentosum, group C (disorder) [SNOMED CT concept]
- xeroderma pigmentosum group C [Disease (Nov.)]
- xeroderma pigmentosum group C [DO Concept]
- xeroderma pigmentosum, complementation group C [MeSH concept]
- xeroderma pigmentosum, complementation group C [MeSH Supplementary Concept]
- xeroderma pigmentosum, group c [SNOMED Notion]
DO Cross reference
- xeroderma pigmentosum group C [DO Concept]
Genes related to phenotype
- Xpc complex subunit, dna damage recognition and repair factor [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Basal cell carcinoma [HPO term]
- Childhood onset [HPO term]
- Conjunctivitis [HPO term]
- Cutaneous melanoma [HPO term]
- Cutaneous photosensitivity [HPO term]
- Defective DNA repair after ultraviolet radiation damage [HPO term]
- Dermal atrophy [HPO term]
- Ectropion [HPO term]
- Entropion [HPO term]
- Hypopigmentation of the skin [HPO term]
- Keratitis [HPO term]
- Photophobia [HPO term]
- Poikiloderma [HPO term]
- Squamous cell carcinoma of the skin [HPO term]
- Telangiectasia [HPO term]
- Xeroderma pigmentosum [HPO term]
ORDO concept(s)
- Xeroderma pigmentosum [ORDO Disease]
- Xeroderma pigmentosum complementation group C [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- XPC complex subunit, DNA damage recognition and repair factor [ORDO Gene]
- Xeroderma Pigmentosum, Complementation Group C [NCIt concept]
- Xeroderma pigmentosum complementation group C [ORDO Disease]
- Xeroderma pigmentosum, group C (disorder) [SNOMED CT concept]
- xeroderma pigmentosum group C [DO Concept]
- xeroderma pigmentosum group C [Disease (Nov.)]
- xeroderma pigmentosum, complementation group C [MeSH Supplementary Concept]
- xeroderma pigmentosum, complementation group C [MeSH concept]
- xeroderma pigmentosum, group c [SNOMED Notion]

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