XPG
MCID: XRD014
MIFTS: 29

Xeroderma Pigmentosum, Group G (XPG) malady

Genetic diseases, Neuronal diseases, Eye diseases, Ear diseases, Skin diseases, Fetal diseases, Cancer diseases, Rare diseases categories

Summaries for Xeroderma Pigmentosum, Group G

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48OMIM, 34MalaCards
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MalaCards: Xeroderma Pigmentosum, Group G, also known as xeroderma pigmentosum complementation group g, is related to xeroderma pigmentosum and cockayne syndrome. An important gene associated with Xeroderma Pigmentosum, Group G is ERCC5 (excision repair cross-complementation group 5). Affiliated tissues include skin, eye and lung.

Description from OMIM:48 278780

Aliases & Classifications for Xeroderma Pigmentosum, Group G

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48OMIM, 50Orphanet, 60SNOMED-CT via Orphanet, 27ICD10 via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
xeroderma pigmentosum complementation group g:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Variable


Aliases & Descriptions:

xeroderma pigmentosum, group g 48
xeroderma pigmentosum complementation group g 50
xpg 50


External Ids:

SNOMED-CT via Orphanet60 36454001
OMIM48 278780
ICD10 via Orphanet27 Q82.1

Related Diseases for Xeroderma Pigmentosum, Group G

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18GeneCards, 19GeneDecks
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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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48OMIM
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Symptoms by clinical synopsis from OMIM:

278780

Clinical features from OMIM:

278780

Drugs & Therapeutics for Xeroderma Pigmentosum, Group G

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Xeroderma Pigmentosum, Group G

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Anatomical Context for Xeroderma Pigmentosum, Group G

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34MalaCards
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MalaCards organs/tissues related to Xeroderma Pigmentosum, Group G:

34
Skin, Eye, 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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53PubMed
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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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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Xeroderma Pigmentosum, Group G:

65
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:

1
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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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Xeroderma Pigmentosum, Group G

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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
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Sources for Xeroderma Pigmentosum, Group G

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet