MCID: XRD014
MIFTS: 40

Xeroderma Pigmentosum, Group G malady

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Xeroderma Pigmentosum, Group G

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Aliases & Descriptions for Xeroderma Pigmentosum, Group G:

Name: Xeroderma Pigmentosum, Group G 50 25 12 66
Xeroderma Pigmentosum Complementation Group G 46 68
Xeroderma Pigmentosum Vii 46 68
Xp7 46 68
Xeroderma Pigmentosum, Group G/cockayne Syndrome 50
Xeroderma Pigmentosum, Complementation Group G 48
 
Xeroderma Pigmentosum Type 7 46
Xp Group G 68
Xp-G/cs 68
Xp-G 68
Xpg 46

Characteristics:

HPO:

62
xeroderma pigmentosum, group g:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 278780
MeSH37 D014983

Summaries for Xeroderma Pigmentosum, Group G

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UniProtKB/Swiss-Prot:68 Xeroderma pigmentosum complementation group G: An autosomal recessive pigmentary skin disorder characterized by solar hypersensitivity of the skin, high predisposition for developing cancers on areas exposed to sunlight and, in some cases, neurological abnormalities. The skin develops marked freckling and other pigmentation abnormalities. Some XP-G patients present features of Cockayne syndrome, cachectic dwarfism, pigmentary retinopathy, ataxia, decreased nerve conduction velocities. The phenotype combining xeroderma pigmentosum and Cockayne syndrome traits is referred to as XP-CS complex.

MalaCards based summary: Xeroderma Pigmentosum, Group G, also known as xeroderma pigmentosum complementation group g, is related to cockayne syndrome and breast cancer, and has symptoms including microcephaly, cataract and microphthalmia. An important gene associated with Xeroderma Pigmentosum, Group G is ERCC5 (ERCC Excision Repair 5, Endonuclease), and among its related pathways are Mismatch repair and Homologous DNA Pairing and Strand Exchange. Affiliated tissues include skin and lung.

OMIM:50 For a general description of xeroderma pigmentosum, see XPA (278700), and of Cockayne syndrome, see CSA (216400).... (278780) more...

Related Diseases for Xeroderma Pigmentosum, Group G

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Diseases in the Xeroderma Pigmentosum, Group B family:

Xeroderma Pigmentosum, Group C Xeroderma Pigmentosum, Group a
xeroderma pigmentosum, group g Xeroderma Pigmentosum, Group F
Xeroderma Pigmentosum, Group D

Diseases related to Xeroderma Pigmentosum, Group G via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1cockayne syndrome10.4
2breast cancer10.1
3melanoma10.1
4lung cancer10.1
5alzheimer disease 129.5EXO1, FEN1
6cerebrooculofacioskeletal syndrome 38.1ERCC5, EXO1, FEN1, GEN1

Graphical network of diseases related to Xeroderma Pigmentosum, Group G:



Diseases related to xeroderma pigmentosum, group g

Symptoms for Xeroderma Pigmentosum, Group G

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Symptoms by clinical synopsis from OMIM:

278780

Clinical features from OMIM:

278780

HPO human phenotypes related to Xeroderma Pigmentosum, Group G:

(show all 10)
id Description Frequency HPO Source Accession
1 microcephaly rare (5%) HP:0000252
2 cataract rare (5%) HP:0000518
3 microphthalmia rare (5%) HP:0000568
4 ataxia rare (5%) HP:0001251
5 spasticity rare (5%) HP:0001257
6 tremor rare (5%) HP:0001337
7 growth delay rare (5%) HP:0001510
8 pes cavus rare (5%) HP:0001761
9 cutaneous photosensitivity HP:0000992
10 defective dna repair after ultraviolet radiation damage HP:0003079

Drugs & Therapeutics for Xeroderma Pigmentosum, Group G

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Xeroderma Pigmentosum, Group G

Genetic Tests for Xeroderma Pigmentosum, Group G

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Genetic tests related to Xeroderma Pigmentosum, Group G:

id Genetic test Affiliating Genes
1 Xeroderma Pigmentosum, Group G25

Anatomical Context for Xeroderma Pigmentosum, Group G

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MalaCards organs/tissues related to Xeroderma Pigmentosum, Group G:

34
Skin, Lung

Animal Models for Xeroderma Pigmentosum, Group G or affiliated genes

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Publications for Xeroderma Pigmentosum, Group G

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Articles related to Xeroderma Pigmentosum, Group G:

(show all 15)
idTitleAuthorsYear
1
A common mutational pattern in Cockayne syndrome patients from xeroderma pigmentosum group G: implications for a second XPG function. (17179216)
2006
2
Polymorphism of Xeroderma Pigmentosum group G and the risk of lung cancer and squamous cell carcinomas of the oropharynx, larynx and esophagus. (16094634)
2006
3
A genetic mouse model carrying the nonfunctional xeroderma pigmentosum group G gene. (12893972)
2003
4
Relationship of neurologic degeneration to genotype in three xeroderma pigmentosum group G patients. (12060391)
2002
5
The founding members of xeroderma pigmentosum group G produce XPG protein with severely impaired endonuclease activity. (11841555)
2002
6
Xeroderma pigmentosum group G with severe neurological involvement and features of Cockayne syndrome in infancy. (11228268)
2001
7
Purkinje cell degeneration in mice lacking the xeroderma pigmentosum group G gene. (11340641)
2001
8
Postnatal growth failure, short life span, and early onset of cellular senescence and subsequent immortalization in mice lacking the xeroderma pigmentosum group G gene. (10022922)
1999
9
Heritable genetic alterations in a xeroderma pigmentosum group G/Cockayne syndrome pedigree. (9447232)
1997
10
A common mutational pattern in Cockayne syndrome patients from Xeroderma pigmentosum group G: implications for a second XPG function. (9096355)
1997
11
DNA repair and ultraviolet mutagenesis in cells from a new patient with xeroderma pigmentosum group G and cockayne syndrome resemble xeroderma pigmentosum cells. (8823375)
1996
12
Human Xeroderma pigmentosum group G gene encodes a DNA endonuclease. (8078765)
1994
13
Mutations that disable the DNA repair gene XPG in a Xeroderma pigmentosum group G patient. (7951246)
1994
14
Identical defects in DNA repair in xeroderma pigmentosum group G and rodent ERCC group 5. (8483505)
1993
15
Complementation of the DNA repair defect in Xeroderma pigmentosum group G cells by a human cDNA related to yeast RAD2. (8483504)
1993

Variations for Xeroderma Pigmentosum, Group G

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UniProtKB/Swiss-Prot genetic disease variations for Xeroderma Pigmentosum, Group G:

68
id Symbol AA change Variation ID SNP ID
1ERCC5p.Ala792ValVAR_007733rs121434571
2ERCC5p.Pro72HisVAR_015280rs121434574
3ERCC5p.Ala874ThrVAR_017096rs28929496
4ERCC5p.Leu858ProVAR_017097rs121434575
5ERCC5p.Ala28AspVAR_075773rs267607281
6ERCC5p.Trp968CysVAR_075774rs267607280

Clinvar genetic disease variations for Xeroderma Pigmentosum, Group G:

5 (show all 11)
id Gene Variation Type Significance SNP ID Assembly Location
1NM_000123.3(ERCC5): c.2878G> T (p.Glu960Ter)single nucleotide variantPathogenicrs121434570GRCh37Chr 13, 103524747: 103524747
2NM_000123.3(ERCC5): c.2375C> T (p.Ala792Val)single nucleotide variantPathogenicrs121434571GRCh37Chr 13, 103519037: 103519037
3NM_000123.3(ERCC5): c.2573T> C (p.Leu858Pro)single nucleotide variantPathogenicrs121434575GRCh37Chr 13, 103520502: 103520502
4NM_000123.3(ERCC5): c.1115_1118delGGAA (p.Arg372Thrfs)deletionPathogenicrs786200919GRCh37Chr 13, 103514614: 103514617
5NM_000123.3(ERCC5): c.1494delA (p.Asp499Ilefs)deletionPathogenicrs786200920GRCh37Chr 13, 103514993: 103514993
6NM_000123.3(ERCC5): c.2751delA (p.Lys917Asnfs)deletionPathogenicrs786200921GRCh37Chr 13, 103524620: 103524620
7NM_000123.3(ERCC5): c.2620G> A (p.Ala874Thr)single nucleotide variantPathogenicrs121434576GRCh37Chr 13, 103520549: 103520549
8NM_000123.3(ERCC5): c.406C> T (p.Gln136Ter)single nucleotide variantPathogenicrs121434577GRCh37Chr 13, 103506663: 103506663
9NM_000123.3(ERCC5): c.3238C> T (p.Arg1080Ter)single nucleotide variantLikely pathogenicrs9514067GRCh37Chr 13, 103527930: 103527930
10NM_000123.3(ERCC5): c.83C> A (p.Ala28Asp)single nucleotide variantPathogenicrs267607281GRCh37Chr 13, 103498699: 103498699
11NM_000123.3(ERCC5): c.2904G> C (p.Trp968Cys)single nucleotide variantPathogenicrs267607280GRCh37Chr 13, 103525633: 103525633

Expression for genes affiliated with Xeroderma Pigmentosum, Group G

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Search GEO for disease gene expression data for Xeroderma Pigmentosum, Group G.

Pathways for genes affiliated with Xeroderma Pigmentosum, Group G

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GO Terms for genes affiliated with Xeroderma Pigmentosum, Group G

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Cellular components related to Xeroderma Pigmentosum, Group G according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1nucleoplasmGO:00056548.0ERCC5, EXO1, FEN1, GEN1

Biological processes related to Xeroderma Pigmentosum, Group G according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1UV protectionGO:00096509.8ERCC5, FEN1
2double-strand break repair via homologous recombinationGO:00007249.8FEN1, GEN1
3DNA repairGO:00062819.2EXO1, FEN1
4DNA replicationGO:00062609.1EXO1, FEN1
5RNA phosphodiester bond hydrolysis, endonucleolyticGO:00905028.8EXO1, FEN1

Molecular functions related to Xeroderma Pigmentosum, Group G according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1RNA-DNA hybrid ribonuclease activityGO:00045239.6EXO1, FEN1
2exonuclease activityGO:00045279.4EXO1, FEN1
3double-stranded DNA bindingGO:00036909.3ERCC5, FEN1
4endodeoxyribonuclease activityGO:00045209.3ERCC5, GEN1
55-3 exonuclease activityGO:00084099.3EXO1, FEN1

Sources for Xeroderma Pigmentosum, Group G

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet