XPG
MCID: XRD014
MIFTS: 50

Xeroderma Pigmentosum, Group G (XPG) malady

Neuronal, Eye, Ear, Skin, Fetal, Cancer categories

Summaries for Xeroderma Pigmentosum, Group G

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47OMIM, 33MalaCards
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MalaCards: Xeroderma Pigmentosum, Group G, also known as xeroderma pigmentosum/cockayne syndrome complex, is related to xeroderma pigmentosum and xeroderma pigmentosum, group d, and has symptoms including autosomal recessive inheritance, hypertonia/spasticity/rigidity/stiffness and ataxia/incoordination/trouble of the equilibrium. An important gene associated with Xeroderma Pigmentosum, Group G is ERCC5 (excision repair cross-complementing rodent repair deficiency, complementation group 5), and among its related pathways are Transcription P53 signaling pathway and RNA Polymerase III Transcription Initiation. The compounds ecteinascidin 743 and phosphodiester have been mentioned in the context of this disorder. Affiliated tissues include skin, liver and tongue, and related mouse phenotypes are endocrine/exocrine gland and growth/size.

Description from OMIM:47 278780,610651

Aliases & Classifications for Xeroderma Pigmentosum, Group G

Sources:
49Orphanet, 47OMIM, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal, Cancer
Anatomical: Neuronal, Eye, Ear, Skin


Characteristics (Orphanet epidemiological data):

49
xeroderma pigmentosum complementation group g:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Variable
xeroderma pigmentosum/cockayne syndrome complex:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

xeroderma pigmentosum, group g 47
xeroderma pigmentosum/cockayne syndrome complex 49
xeroderma pigmentosum complementation group g 49
xp/cs complex 49
xpg 49


External Ids:

ICD10 via Orphanet26 Q82.1, Q87.1

Related Diseases for Xeroderma Pigmentosum, Group G

Sources:
17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Xeroderma Pigmentosum, Group G:



Diseases related to xeroderma pigmentosum, group g

Clinical Features for Xeroderma Pigmentosum, Group G

Sources:
47OMIM, 49Orphanet
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Clinical features from OMIM:

278780,610651

Clinical synopsis from OMIM:

278780

Symptoms:

49 (show all 19)
  • autosomal recessive inheritance
  • hypertonia/spasticity/rigidity/stiffness
  • ataxia/incoordination/trouble of the equilibrium
  • hydrocephaly
  • psychic/psychomotor regression/dementia/intellectual decline
  • hearing loss/hypoacusia/deafness
  • optic nerve anomaly/optic atrophy/anomaly of the papilla
  • short stature/dwarfism/nanism
  • microcephaly
  • retinopathy
  • dry/squaly skin/exfoliation
  • skin photosensitivity
  • abnormal pigmentary skin changes/skin pigmentation anomalies
  • wasted (excluding lipodystrophy)/poorly muscled build/cachexy
  • premature ageing
  • skin hypoplasia/aplasia/atrophy
  • skin/cutaneous neoplasm/tumor/carcinoma/cancer (excluding melanoma)
  • arterial atheroma/precocious atherosclerosis/arteriosclerosis
  • telangiectasic erythema/poikiloderma

Drugs & Therapeutics for Xeroderma Pigmentosum, Group G

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Xeroderma Pigmentosum, Group G

Anatomical Context for Xeroderma Pigmentosum, Group G

Sources:
33MalaCards
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MalaCards organs/tissues related to Xeroderma Pigmentosum, Group G:

33
Skin, Liver, Tongue, Brain, Lung, Breast, Prostate, T cells, B cells

Animal Models for Xeroderma Pigmentosum, Group G or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Xeroderma Pigmentosum, Group G:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053799.5ERCC2, ERCC3
2MP:00053788.1ERCC5, FEN1, ERCC3, ERCC4, ERCC2
3MP:00053847.3ERCC4, EXO1, ERCC2, ERCC3, FEN1
4MP:00107687.3FEN1, EXO1, ERCC4, ERCC2, ERCC5, ERCC3

Publications for Xeroderma Pigmentosum, Group G

Sources:
51PubMed
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Articles related to Xeroderma Pigmentosum, Group G:

(show top 50)    (show all 269)
idTitleAuthorsYear
1
A nonsense mutation in the Xeroderma pigmentosum complementation group F (XPF) gene is associated with gastric carcinogenesis. (24412486)
2014
2
Xeroderma pigmentosum complementation group C protein (XPC) serves as a general sensor of damaged DNA. (24051049)
2013
3
Genetic polymorphisms of xeroderma pigmentosum group D gene Asp312Asn and Lys751Gln and susceptibility to prostate cancer: a systematic review and meta-analysis. (23973729)
2013
4
Perception of xeroderma pigmentosum support group members of xeroderma pigmentosum lifestyle impact. (23126298)
2012
5
Prenatal diagnosis of xeroderma pigmentosum group A in Japan. (22168765)
2012
6
Nucleotide excision repair by mutant xeroderma pigmentosum group A (XPA) proteins with deficiency in interaction with RPA. (21148310)
2011
7
Dynamic two-stage mechanism of versatile DNA damage recognition by xeroderma pigmentosum group C protein. (19686765)
2010
8
DNA repair gene X-ray repair cross-complementing group 1 and xeroderma pigmentosum group D polymorphisms and risk of prostate cancer: a study from North India. (20070155)
2010
9
Identification of a primarily neurological phenotypic expression of xeroderma pigmentosum complementation group A in a Tunisian family. (20199544)
2010
10
DNA repair gene xeroderma pigmentosum group D 751 polymorphism and the risk on esophageal cancer: a meta-analysis]. (19642387)
2009
11
Arsenite and its mono- and dimethylated trivalent metabolites enhance the formation of benzo[a]pyrene diol epoxide-DNA adducts in Xeroderma pigmentosum complementation group A cells. (19146383)
2009
12
Correlation of polymorphisms in xeroderma pigmentosum group C to the risk of ovarian carcinoma]. (18785488)
2008
13
Polymorphisms of the DNA repair gene xeroderma pigmentosum groups A and C and risk of esophageal squamous cell carcinoma in a population of high incidence region of North China. (17653764)
2008
14
A common mutational pattern in Cockayne syndrome patients from xeroderma pigmentosum group G: implications for a second XPG function. (17179216)
2006
15
The xeroderma pigmentosum group C protein complex and ultraviolet-damaged DNA-binding protein: functional assays for damage recognition factors involved in global genome repair. (16793369)
2006
16
Specific and efficient binding of xeroderma pigmentosum complementation group A to double-strand/single-strand DNA junctions with 3'- and/or 5'-ssDNA branches. (17176115)
2006
17
Biochemical and structural domain analysis of xeroderma pigmentosum complementation group C protein. (17154534)
2006
18
A novel XPA gene mutation and its functional analysis in a Japanese patient with xeroderma pigmentosum group A. (16098033)
2005
19
Characterisation of novel mutations in Cockayne syndrome type A and xeroderma pigmentosum group C subjects. (15744458)
2005
20
No association between three xeroderma pigmentosum group C and one group G gene polymorphisms and risk of cutaneous melanoma. (15494739)
2005
21
The photocarcinogenesis of antibiotic lomefloxacin and UVA radiation is enhanced in xeroderma pigmentosum group A gene-deficient mice. (16117798)
2005
22
Oxidative nucleotide damage and superoxide dismutase expression in the brains of xeroderma pigmentosum group A and Cockayne syndrome. (15626539)
2005
23
Centrin 2 stimulates nucleotide excision repair by interacting with xeroderma pigmentosum group C protein. (15964821)
2005
24
DDB2, the xeroderma pigmentosum group E gene product, is directly ubiquitylated by Cullin 4A-based ubiquitin ligase complex. (15811626)
2005
25
Efficient repair of cyclobutane pyrimidine dimers at mutational hot spots is restored in complemented Xeroderma pigmentosum group C and trichothiodystrophy/xeroderma pigmentosum group D cells. (12948486)
2003
26
Polymorphisms of the DNA repair gene xeroderma pigmentosum group A and risk of primary lung cancer. (12376498)
2002
27
Xeroderma pigmentosum complementation group E and UV-damaged DNA-binding protein. (12509284)
2002
28
Compound heterozygosity for the Xeroderma pigmentosum complementation group A gene associated with a mild phenotype. (12459522)
2002
29
UV-induced skin carcinogenesis in xeroderma pigmentosum group A (XPA) gene-knockout mice with nucleotide excision repair-deficiency. (11376684)
2001
30
The xeroderma pigmentosum group E gene product DDB2 is a specific target of cullin 4A in mammalian cells. (11564859)
2001
31
Centrosome protein centrin 2/caltractin 1 is part of the xeroderma pigmentosum group C complex that initiates global genome nucleotide excision repair. (11279143)
2001
32
Purkinje cell degeneration in mice lacking the xeroderma pigmentosum group G gene. (11340641)
2001
33
Increased mRNA levels of xeroderma pigmentosum complementation group B (XPB) and Cockayne's syndrome complementation group B (CSB) without increased mRNA levels of multidrug-resistance gene (MDR1) or metallothionein-II (MT-II) in platinum-resistant human ovarian cancer tissues. (11077043)
2000
34
Partial complementation of the DNA repair defects in cells from xeroderma pigmentosum groups A, C, D and F but not G by the denV gene from bacteriophage T4. (10989608)
2000
35
Mechanism of promoter melting by the xeroderma pigmentosum complementation group B helicase of transcription factor IIH revealed by protein-DNA photo-cross-linking. (11027286)
2000
36
Oxidative damage-induced PCNA complex formation is efficient in xeroderma pigmentosum group A but reduced in Cockayne syndrome group B cells. (10536158)
1999
37
p53 mutations in skin and internal tumors of xeroderma pigmentosum patients belonging to the complementation group C. (9766670)
1998
38
Characterization of molecular defects in Xeroderma pigmentosum group F in relation to its clinically mild symptoms. (9580660)
1998
39
A low content of ERCC1 and a 120 kDa protein is a frequent feature of group F xeroderma pigmentosum fibroblast cells. (9025096)
1997
40
Heritable genetic alterations in a xeroderma pigmentosum group G/Cockayne syndrome pedigree. (9447232)
1997
41
Competent transcription initiation by RNA polymerase II in cell-free extracts from xeroderma pigmentosum groups B and D in an optimized RNA transcription assay. (9427533)
1997
42
Preferential DNA damage in the p53 gene by benzo[a]pyrene metabolites in cytochrome P4501A1-expressing xeroderma pigmentosum group A cells. (8634092)
1996
43
Xeroderma pigmentosum group F caused by a defect in a structure- specific DNA repair endonuclease. (8797827)
1996
44
Xeroderma pigmentosum group E binding factor recognizes a broad spectrum of DNA damage. (7523888)
1994
45
Repair in ribosomal RNA genes is deficient in xeroderma pigmentosum group C and in Cockayne's syndrome cells. (7512688)
1994
46
Human Xeroderma pigmentosum group D gene encodes a DNA helicase. (8413672)
1993
47
Complementation of the DNA repair defect in Xeroderma pigmentosum group G cells by a human cDNA related to yeast RAD2. (8483504)
1993
48
Expression cloning of a human DNA repair gene involved in xeroderma pigmentosum group C. (1461286)
1992
49
Mutational analysis of the structure and function of the Xeroderma pigmentosum group A complementing protein. Identification of essential domains for nuclear localization and DNA excision repair. (1601884)
1992
50
An immortalized xeroderma pigmentosum, group C, cell line which replicates SV40 shuttle vectors. (3029584)
1987

Genetic Variations for Xeroderma Pigmentosum, Group G

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Xeroderma Pigmentosum, Group G:

63
id Symbol AA change Variation SNP ID
1ERCC5p.Ala792ValVAR_007733
2ERCC5p.Pro72HisVAR_015280
3ERCC5p.Ala874ThrVAR_017096rs28929496
4ERCC5p.Leu858ProVAR_017097

Expression for genes affiliated with Xeroderma Pigmentosum, Group G

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Xeroderma Pigmentosum, Group G

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

Pathways for genes affiliated with Xeroderma Pigmentosum, Group G

Sources:
12EMD Millipore, 54Reactome, 52QIAGEN, 30KEGG, 38NCBI BioSystems Database, 4Cell Signaling Technology
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Pathways related to Xeroderma Pigmentosum, Group G according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Transcription P53 signaling pathway
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9.6ERCC2, ERCC3
2
Hide members
9.6ERCC2, ERCC3
3
Hide members
9.6ERCC3, ERCC2
4
Hide members
9.0FEN1, EXO1
5
Hide members
9.0ERCC2, ERCC3, FEN1
6
Hide members
8.7ERCC2, ERCC5, ERCC3, ERCC4
7
Hide members
8.7ERCC4, ERCC3, ERCC5, ERCC2
8
Hide members
8.1FEN1, ERCC4, ERCC3, ERCC5, ERCC2
9
Hide members
8.1ERCC2, ERCC5, ERCC3, ERCC4, FEN1

Compounds for genes affiliated with Xeroderma Pigmentosum, Group G

Sources:
45Novoseek, 11DrugBank, 24HMDB, 50PharmGKB, 60Tocris Bioscience, 29IUPHAR
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Compounds related to Xeroderma Pigmentosum, Group G according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1ecteinascidin 743459.8ERCC2, ERCC5
2phosphodiester459.5ERCC5, ERCC3
3melphalan45 1110.2ERCC4, ERCC3, ERCC2
45fluorouracil458.6FEN1, ERCC4, ERCC2
5magnesium45 11 2410.4FEN1, GEN1, ERCC4, ERCC2
6cisplatin45 50 60 1111.2ERCC2, ERCC5, ERCC3, ERCC4, FEN1
7atp45 299.2ERCC5, ERCC3, FEN1, EXO1

GO Terms for genes affiliated with Xeroderma Pigmentosum, Group G

Sources:
16Gene Ontology
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Cellular components related to Xeroderma Pigmentosum, Group G according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1SSL2-core TFIIH complexGO:0004419.5ERCC2, ERCC3
2holo TFIIH complexGO:0056759.2ERCC3, ERCC5, ERCC2
3nucleoplasmGO:0056547.8ERCC5, FEN1, ERCC4, ERCC2, ERCC3
4nucleusGO:0056346.7ERCC2, ERCC3, ERCC5, FEN1, GEN1, ERCC4

Biological processes related to Xeroderma Pigmentosum, Group G according to GeneCards/GeneDecks:

(show all 19)
idNameGO IDScoreTop Affiliating Genes
1regulation of mitotic cell cycle phase transitionGO:19019909.9ERCC2, ERCC3
2nucleotide-excision repair, DNA incision, 3-to lesionGO:0062959.8ERCC4, ERCC5
3hair cell differentiationGO:0353159.8ERCC3, ERCC2
4transcription elongation from RNA polymerase I promoterGO:0063629.8ERCC2, ERCC3
5termination of RNA polymerase I transcriptionGO:0063639.8ERCC3, ERCC2
6transcription initiation from RNA polymerase I promoterGO:0063619.8ERCC3, ERCC2
7transcription from RNA polymerase I promoterGO:0063609.7ERCC2, ERCC3
87-methylguanosine mRNA cappingGO:0063709.7ERCC3, ERCC2
9positive regulation of viral transcriptionGO:0504349.6ERCC2, ERCC3
10response to oxidative stressGO:0069799.6ERCC2, ERCC3
11response to UVGO:0094119.4ERCC4, ERCC3, ERCC5
12nucleotide-excision repair, DNA incisionGO:0336839.4ERCC3, ERCC2, ERCC4
13transcription elongation from RNA polymerase II promoterGO:0063689.3ERCC2, ERCC3
14telomere maintenanceGO:0007239.2FEN1, ERCC4
15nucleotide-excision repair, DNA damage removalGO:0007189.0ERCC2, ERCC5, ERCC3, ERCC4
16transcription-coupled nucleotide-excision repairGO:0062839.0ERCC3, ERCC4, ERCC2, ERCC5
17nucleotide-excision repairGO:0062899.0ERCC2, ERCC5, ERCC3, ERCC4
18UV protectionGO:0096508.4ERCC2, ERCC5, ERCC3, ERCC4, FEN1
19DNA repairGO:0062817.1EXO1, FEN1, GEN1, ERCC4, ERCC3, ERCC5

Molecular functions related to Xeroderma Pigmentosum, Group G according to GeneCards/GeneDecks:

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1endodeoxyribonuclease activityGO:0045209.8ERCC5, ERCC4
2RNA polymerase II carboxy-terminal domain kinase activityGO:0083539.7ERCC2, ERCC3
3single-stranded DNA bindingGO:0036979.6ERCC4, ERCC5
4ATP-dependent DNA helicase activityGO:0040039.5ERCC2, ERCC3
5structure-specific DNA bindingGO:0435669.4ERCC4, EXO1
6DNA-dependent ATPase activityGO:0080949.3ERCC3, ERCC2
7protein C-terminus bindingGO:0080229.2ERCC4, ERCC2, ERCC3
8ribonuclease H activityGO:0045239.2EXO1, FEN1
9endonuclease activityGO:0045199.2GEN1, FEN1, ERCC5
105-3 exonuclease activityGO:0084099.2FEN1, EXO1
11damaged DNA bindingGO:0036849.1ERCC4, FEN1, ERCC3
12exonuclease activityGO:0045279.1EXO1, FEN1
13protein N-terminus bindingGO:0474859.0ERCC4, ERCC3, ERCC5, ERCC2
14DNA bindingGO:0036777.6ERCC3, GEN1, FEN1, EXO1, ERCC2

Products for genes affiliated with Xeroderma Pigmentosum, Group G

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Sources for Xeroderma Pigmentosum, Group G

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet