MCID: XRD014
MIFTS: 39

Xeroderma Pigmentosum, Group G malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Ear diseases, Skin diseases, Fetal diseases, Cancer diseases

Aliases & Classifications for Xeroderma Pigmentosum, Group G

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Aliases & Descriptions for Xeroderma Pigmentosum, Group G:

Name: Xeroderma Pigmentosum, Group G 49 11 24 65
Xeroderma Pigmentosum Complementation Group G 45 51 67
Xeroderma Pigmentosum Vii 45 67
Xp7 45 67
Xpg 45 51
Xeroderma Pigmentosum, Group G/cockayne Syndrome 49
 
Xeroderma Pigmentosum, Complementation Group G 47
Xeroderma Pigmentosum Type 7 45
Xp Group G 67
Xp-G/cs 67
Xp-G 67

Characteristics:

Orphanet epidemiological data:

51
xeroderma pigmentosum complementation group g:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages

HPO:

61
xeroderma pigmentosum, group g:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 278780
Orphanet51 276267
ICD10 via Orphanet28 Q82.1
MeSH36 D014983
UMLS65 C0268141

Summaries for Xeroderma Pigmentosum, Group G

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UniProtKB/Swiss-Prot:67 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 pes cavus, growth delay and tremor. An important gene associated with Xeroderma Pigmentosum, Group G is ERCC5 (Excision Repair Cross-Complementation Group 5), and among its related pathways are Mismatch repair and Homologous DNA Pairing and Strand Exchange. Affiliated tissues include skin, eye and thyroid.

OMIM:49 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
3lung cancer10.1
4alzheimer disease 129.7EXO1, FEN1
5synpolydactyly9.4ERCC5, FEN1
6cerebrooculofacioskeletal syndrome 38.3ERCC5, 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 pes cavus rare (5%) HP:0001761
2 growth delay rare (5%) HP:0001510
3 tremor rare (5%) HP:0001337
4 spasticity rare (5%) HP:0001257
5 ataxia rare (5%) HP:0001251
6 microphthalmia rare (5%) HP:0000568
7 cataract rare (5%) HP:0000518
8 microcephaly rare (5%) HP:0000252
9 defective dna repair after ultraviolet radiation damage HP:0003079
10 cutaneous photosensitivity HP:0000992

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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Anatomical Context for Xeroderma Pigmentosum, Group G

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

33
Skin, Eye, Thyroid, Prostate, Lung

Animal Models for Xeroderma Pigmentosum, Group G or affiliated genes

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MGI Mouse Phenotypes related to Xeroderma Pigmentosum, Group G:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes

Publications for Xeroderma Pigmentosum, Group G

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Articles related to Xeroderma Pigmentosum, Group G:

(show all 16)
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
The founding members of xeroderma pigmentosum group G produce XPG protein with severely impaired endonuclease activity. (11841555)
2002
5
Relationship of neurologic degeneration to genotype in three xeroderma pigmentosum group G patients. (12060391)
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
16

Variations for Xeroderma Pigmentosum, Group G

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

67
id Symbol AA change Variation ID SNP ID
1ERCC5p.Ala792ValVAR_007733
2ERCC5p.Pro72HisVAR_015280
3ERCC5p.Ala874ThrVAR_017096rs28929496
4ERCC5p.Leu858ProVAR_017097
5ERCC5p.Ala28AspVAR_075773
6ERCC5p.Trp968CysVAR_075774

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)deletionPathogenicrs786200919GRCh38Chr 13, 102862264: 102862267
5NM_000123.3(ERCC5): c.1494delA (p.Asp499Ilefs)deletionPathogenicrs786200920GRCh37Chr 13, 103514993: 103514993
6NM_000123.3(ERCC5): c.2751delA (p.Lys917Asnfs)deletionPathogenicrs786200921GRCh38Chr 13, 102872270: 102872270
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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Biological processes related to Xeroderma Pigmentosum, Group G according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1UV protectionGO:00096509.6ERCC5, FEN1
2nucleic acid phosphodiester bond hydrolysisGO:00903058.0ERCC5, EXO1, FEN1, GEN1

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

idNameGO IDScoreTop Affiliating Genes
15-3 exonuclease activityGO:00084099.7EXO1, FEN1
2nuclease activityGO:00045189.3ERCC5, EXO1
3double-stranded DNA bindingGO:00036909.3ERCC5, FEN1
4catalytic activityGO:00038249.0EXO1, FEN1

Sources for Xeroderma Pigmentosum, Group G

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet