XPG
MCID: XRD014
MIFTS: 31

Xeroderma Pigmentosum, Group G (XPG) malady

Genetic diseases, Neuronal diseases, Eye diseases, Ear diseases, Skin diseases, Fetal diseases, Cancer diseases, Rare diseases categories
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Summaries for Xeroderma Pigmentosum, Group G

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MalaCards based summary: Xeroderma Pigmentosum, Group G, also known as xeroderma pigmentosum complementation group g, is related to xeroderma pigmentosum and cockayne syndrome, and has symptoms including An important gene associated with Xeroderma Pigmentosum, Group G is ERCC5 (excision repair cross-complementation group 5). Affiliated tissues include eye, skin and lung, and related mouse phenotype immune system.

Description from OMIM:46 278780

Aliases & Classifications for Xeroderma Pigmentosum, Group G

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Sources:
46OMIM, 48Orphanet, 62UMLS, 26ICD10 via Orphanet
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Xeroderma Pigmentosum, Group G, Aliases & Descriptions:

Name: Xeroderma Pigmentosum, Group G 46
Xeroderma Pigmentosum Complementation Group G 48 62
 
Xpg 48


Classifications:



Characteristics (Orphanet epidemiological data):

48
xeroderma pigmentosum complementation group g:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Variable


External Ids:

OMIM46 278780
ICD10 via Orphanet26 Q82.1

Related Diseases for Xeroderma Pigmentosum, Group G

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Graphical network of the top 20 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:

id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 defective dna repair after ultraviolet radiation damage HP:0003079

Drugs & Therapeutics for Xeroderma Pigmentosum, Group G

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Drug clinical trials:

Search ClinicalTrials for Xeroderma Pigmentosum, Group G

Search 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:

32
Eye, Skin, Lung

Animal Models for Xeroderma Pigmentosum, Group G or affiliated genes

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MGI Mouse Phenotypes related to Xeroderma Pigmentosum, Group G:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053878.5ERCC5, CFD, GBA2

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
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

Variations for Xeroderma Pigmentosum, Group G

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

64
id Symbol AA change Variation ID SNP ID
1ERCC5p.Ala792ValVAR_007733
2ERCC5p.Pro72HisVAR_015280
3ERCC5p.Ala874ThrVAR_017096rs28929496
4ERCC5p.Leu858ProVAR_017097

Clinvar genetic disease variations for Xeroderma Pigmentosum, Group G:

6
id Gene Name 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
4ERCC5ERCC5, 4-BP DEL, 1114AGGAdeletionPathogenic
5ERCC5ERCC5, 1-BP DEL, 1491AdeletionPathogenic
6ERCC5ERCC5, 1-BP DEL, 2743AdeletionPathogenic
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.83C> A (p.Ala28Asp)single nucleotide variantPathogenicrs267607281GRCh37Chr 13, 103498699: 103498699
10NM_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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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

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Compounds 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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Products for genes affiliated with Xeroderma Pigmentosum, Group G

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  • Antibodies
  • Proteins
  • Lysates

Sources for Xeroderma Pigmentosum, Group G

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet