Xeroderma pigmentosum, complementation group f

Preferred Label : Xeroderma pigmentosum, complementation group f;

Symbol : XPF;

CISMeF acronym : XPF/CS; XPF; XP6;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Xp, group f; Xeroderma pigmentosum VI; XP6;

Included titles and symbols : Xeroderma pigmentosum, type f/cockayne syndrome; XPF/CS;

Description : Xeroderma pigmentosum is an autosomal recessive disorder characterized by sun sensitivity and increased skin sensitivity to UV light, as well as an increased risk of skin cancer associated with a defect in nucleotide excision repair (NER). The XPF form of XP is usually relatively mild compared to other forms. Patients with XPF tend to have later onset of skin cancer. Some patients with XPF may develop neurologic impairment or growth defects, and are then classified as having Cockayne syndrome (summary by Kashiyama et al., 2013). For a general phenotypic description and a discussion of genetic heterogeneity of xeroderma pigmentosa, see XPA (278700), and of Cockayne syndrome, see CSA (216400).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the excision-repair cross-complementing group 4 gene (ERCC4, 133520.0001);

Neoplasia : Skin cancer susceptibility;

Laboratory abnormalities : Patient cells show defective transcription-coupled and global genome nucleotide excision repair (NER);

Prefixed ID : #278760;

Details

Origin ID

278760;

UMLS CUI

C0268140;

Automatic exact mappings (from CISMeF team)
- DNA Repair Endonuclease XPF [NCIt concept]
- ERCC excision repair 4, endonuclease catalytic subunit [ORDO Gene]
- ERCC4 wt Allele [NCIt concept]
- symbol withdrawn XPF [HGNC gene]
Currated CISMeF NLP mapping
- Xeroderma Pigmentosum, Complementation Group F [NCIt concept]
- Xeroderma pigmentosum F [ICD-11 More detail]
- Xeroderma pigmentosum complementation group F [ORDO Disease]
- Xeroderma pigmentosum, group F (disorder) [SNOMED CT concept]
- xeroderma pigmentosum group F [Disease (Nov.)]
- xeroderma pigmentosum group F [DO Concept]
- xeroderma pigmentosum, complementation group F [MeSH concept]
- xeroderma pigmentosum, complementation group F [MeSH Supplementary Concept]
- xeroderma pigmentosum, group f [SNOMED Notion]
DO Cross reference
- xeroderma pigmentosum group F [DO Concept]
Genes related to phenotype
- Ercc excision repair 4, endonuclease catalytic subunit [OMIM gene]
HPO term(s)
- Aplasia/Hypoplasia involving the central nervous system [HPO term]
- Astigmatism [HPO term]
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Brain atrophy [HPO term]
- Cutaneous photosensitivity [HPO term]
- Decreased body weight [HPO term]
- Deeply set eye [HPO term]
- Defective DNA repair after ultraviolet radiation damage [HPO term]
- Dementia [HPO term]
- Flexion contracture [HPO term]
- Hearing impairment [HPO term]
- Intellectual disability [HPO term]
- Microcephaly [HPO term]
- Morphological central nervous system abnormality [HPO term]
- Neoplasm of the skin [HPO term]
- Numerous pigmented freckles [HPO term]
- Nystagmus [HPO term]
- Papule [HPO term]
- Scoliosis [HPO term]
- Seborrheic keratosis [HPO term]
- Short stature [HPO term]
- Tremor [HPO term]
Not associated HPO term(s)
- Abnormality of the eye [HPO term]
ORDO concept(s)
- Xeroderma pigmentosum [ORDO Disease]
- Xeroderma pigmentosum complementation group F [ORDO Disease]
- Xeroderma pigmentosum-Cockayne syndrome complex [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Xeroderma Pigmentosum, Complementation Group F [NCIt concept]
- Xeroderma pigmentosum complementation group F [ORDO Disease]
- Xeroderma pigmentosum, group F (disorder) [SNOMED CT concept]
- xeroderma pigmentosum group F [DO Concept]
- xeroderma pigmentosum group F [Disease (Nov.)]
- xeroderma pigmentosum, complementation group F [MeSH Supplementary Concept]
- xeroderma pigmentosum, complementation group F [MeSH concept]
- xeroderma pigmentosum, group f [SNOMED Notion]

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