XP-G
MCID: XRD014
MIFTS: 48

Xeroderma Pigmentosum, Group G (XP-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 52 12 68
Xeroderma Pigmentosum Group G 11 27 13
Xeroderma Pigmentosum Vii 11 48 70
Xp7 11 48 70
Xeroderma Pigmentosum Complementation Group G 48 70
Xp Group G 11 70
 
Xpg 11 48
Xeroderma Pigmentosum, Group G/cockayne Syndrome 52
Xeroderma Pigmentosum, Complementation Group G 50
Xeroderma Pigmentosum Type 7 48
Xp-G/cs 70
Xp-G 70

Characteristics:

HPO:

64
xeroderma pigmentosum, group g:
Inheritance: autosomal recessive inheritance
Onset and clinical course: variable expressivity

Classifications:



External Ids:

OMIM52 278780
Disease Ontology11 DOID:0110849
ICD1030 Q82.1
MeSH39 D014983

Summaries for Xeroderma Pigmentosum, Group G

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UniProtKB/Swiss-Prot:70 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 group g, is related to cockayne syndrome, type a and xeroderma pigmentosum, group a, 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 Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA) and Cyclophosphamide Pathway, Pharmacodynamics. Affiliated tissues include skin and lung, and related mouse phenotypes are Decreased shRNA abundance (Z-score < -2) and Increased viability with MLN4924 (a NAE inhibitor).

Disease Ontology:11 A xeroderma pigmentosum that has material basis in homozygous or compound heterozygous mutation in the ERCC5 gene on chromosome 13q33.

OMIM:52 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 E family:

Xeroderma Pigmentosum, Group B 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:

(show all 25)
idRelated DiseaseScoreTop Affiliating Genes
1cockayne syndrome, type a10.8
2xeroderma pigmentosum, group a10.8
3cockayne syndrome10.3
4breast cancer10.0
5melanoma10.0
6lung cancer9.9
7squamous cell carcinoma9.9
8specific language impairment9.9ERCC3, ERCC5, FEN1
9congenital stationary night blindness 1h9.9DDB2, RAD23B, XPA
10qazi markouizos syndrome9.8ERCC1, ERCC3, XPA
11t-cell large granular lymphocyte leukemia9.8ERCC1, ERCC3, ERCC5, XPA
12trichothiodystrophy 2, photosensitive9.8ERCC1, ERCC3, RAD23B, XPA
13confetti-like macular atrophy9.8ERCC3, ERCC4, ERCC5
14bone marrow failure syndrome 29.8ERCC1, ERCC4, XPA
15myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay9.8ERCC1, ERCC4
16lymphedema-distichiasis syndrome9.8ERCC1, ERCC4, FEN1
17mycobacterium kansasii9.8RAD23B, XPA, XRCC1, XRCC3
18myoclonic-atonic epilepsy9.7DDB2, ERCC3, RAD23B, XPA
19charcot-marie-tooth disease type 2a9.7ERCC1, ERCC3, ERCC4, ERCC5
20cerebrooculofacioskeletal syndrome 29.4ERCC1, ERCC3, RAD23B, XPA, XRCC1, XRCC3
213-methylglutaconic aciduria, type iii9.4ERCC1, ERCC3, ERCC4, ERCC5, RAD23B, XPA
22renal artery obstruction9.3DDB2, ERCC1, ERCC3, ERCC4, ERCC5, XPA
23fanconi anemia, complementation group q9.0DDB2, ERCC1, ERCC4, ERCC5, RAD23B, XPA
24retinitis pigmentosa 7 and digenic8.8DDB2, ERCC1, ERCC3, ERCC4, ERCC5, RAD23B
25bile acid malabsorption, primary8.4DDB2, ERCC1, ERCC3, ERCC4, ERCC5, EXO1

Graphical network of the top 20 diseases related to Xeroderma Pigmentosum, Group G:



Diseases related to xeroderma pigmentosum, group g

Symptoms & Phenotypes for Xeroderma Pigmentosum, Group G

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Symptoms by clinical synopsis from OMIM:

278780

Clinical features from OMIM:

278780

Human phenotypes related to Xeroderma Pigmentosum, Group G:

 64 (show all 10)
id Description HPO Frequency HPO Source Accession
1 microcephaly64 HP:0000252
2 cataract64 HP:0000518
3 microphthalmia64 HP:0000568
4 cutaneous photosensitivity64 HP:0000992
5 ataxia64 HP:0001251
6 spasticity64 HP:0001257
7 tremor64 HP:0001337
8 growth delay64 HP:0001510
9 pes cavus64 HP:0001761
10 defective dna repair after ultraviolet radiation damage64 HP:0003079

GenomeRNAi Phenotypes related to Xeroderma Pigmentosum, Group G according to GeneCards Suite gene sharing:

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00366-A-849.2DDB2, ERCC1, EXO1
2GR00250-A-36.0DDB2, ERCC1, ERCC3, ERCC4, EXO1, FEN1
3GR00250-A-14.0DDB2, ERCC1, ERCC4, EXO1, FEN1, XRCC1

MGI Mouse Phenotypes related to Xeroderma Pigmentosum, Group G according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053898.6ERCC1, ERCC3, EXO1, FEN1, RAD23B, XPA
2MP:00053708.5ERCC1, ERCC4, ERCC5, FEN1, XPA
3MP:00107718.1DDB2, ERCC1, ERCC3, ERCC5, RAD23B, XPA
4MP:00020068.0DDB2, ERCC1, ERCC3, EXO1, FEN1, XPA
5MP:00053786.5DDB2, ERCC1, ERCC3, ERCC4, ERCC5, FEN1
6MP:00053846.5DDB2, ERCC1, ERCC3, ERCC4, EXO1, FEN1
7MP:00107685.8DDB2, ERCC1, ERCC3, ERCC4, ERCC5, EXO1

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 G27

Anatomical Context for Xeroderma Pigmentosum, Group G

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

36
Skin, Lung

Publications for Xeroderma Pigmentosum, Group G

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Articles related to Xeroderma Pigmentosum, Group G:

(show all 15)
idTitleAuthorsYear
1
Polymorphism of Xeroderma Pigmentosum group G and the risk of lung cancer and squamous cell carcinomas of the oropharynx, larynx and esophagus. (16094634)
2006
2
A common mutational pattern in Cockayne syndrome patients from xeroderma pigmentosum group G: implications for a second XPG function. (17179216)
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
A common mutational pattern in Cockayne syndrome patients from Xeroderma pigmentosum group G: implications for a second XPG function. (9096355)
1997
10
Heritable genetic alterations in a xeroderma pigmentosum group G/Cockayne syndrome pedigree. (9447232)
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
Mutations that disable the DNA repair gene XPG in a Xeroderma pigmentosum group G patient. (7951246)
1994
13
Human Xeroderma pigmentosum group G gene encodes a DNA endonuclease. (8078765)
1994
14
Complementation of the DNA repair defect in Xeroderma pigmentosum group G cells by a human cDNA related to yeast RAD2. (8483504)
1993
15
Identical defects in DNA repair in xeroderma pigmentosum group G and rodent ERCC group 5. (8483505)
1993

Variations for Xeroderma Pigmentosum, Group G

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

70
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
1ERCC5NM_ 000123.3(ERCC5): c.2878G> T (p.Glu960Ter)SNVPathogenicrs121434570GRCh37Chr 13, 103524747: 103524747
2ERCC5NM_ 000123.3(ERCC5): c.2375C> T (p.Ala792Val)SNVPathogenicrs121434571GRCh37Chr 13, 103519037: 103519037
3ERCC5NM_ 000123.3(ERCC5): c.2573T> C (p.Leu858Pro)SNVPathogenicrs121434575GRCh37Chr 13, 103520502: 103520502
4ERCC5NM_ 000123.3(ERCC5): c.1115_ 1118delGGAA (p.Arg372Thrfs)deletionPathogenicrs786200919GRCh37Chr 13, 103514614: 103514617
5ERCC5NM_ 000123.3(ERCC5): c.1494delA (p.Asp499Ilefs)deletionPathogenicrs786200920GRCh37Chr 13, 103514993: 103514993
6ERCC5NM_ 000123.3(ERCC5): c.2751delA (p.Lys917Asnfs)deletionPathogenicrs786200921GRCh37Chr 13, 103524620: 103524620
7ERCC5NM_ 000123.3(ERCC5): c.406C> T (p.Gln136Ter)SNVPathogenicrs121434577GRCh37Chr 13, 103506663: 103506663
8ERCC5NM_ 000123.3(ERCC5): c.3238C> T (p.Arg1080Ter)SNVLikely pathogenicrs9514067GRCh37Chr 13, 103527930: 103527930
9ERCC5NM_ 000123.3(ERCC5): c.2678+1G> ASNVLikely pathogenicrs886044319GRCh37Chr 13, 103520608: 103520608
10ERCC5NM_ 000123.3(ERCC5): c.83C> A (p.Ala28Asp)SNVPathogenicrs267607281GRCh37Chr 13, 103498699: 103498699
11ERCC5NM_ 000123.3(ERCC5): c.2904G> C (p.Trp968Cys)SNVPathogenicrs267607280GRCh37Chr 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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Pathways related to Xeroderma Pigmentosum, Group G according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.4EXO1, GEN1, XRCC3
2
Show member pathways
9.3ERCC1, ERCC4
38.4ERCC1, ERCC3, ERCC4, XPA
4
Show member pathways
8.2ERCC1, ERCC4, EXO1, GEN1, XRCC3
5
Show member pathways
7.1DDB2, ERCC1, ERCC3, ERCC4, ERCC5, RAD23B
6
Show member pathways
6.9ERCC1, ERCC3, ERCC4, ERCC5, FEN1, RAD23B
7
Show member pathways
6.6DDB2, ERCC1, ERCC3, ERCC4, ERCC5, RAD23B
86.6DDB2, ERCC1, ERCC3, ERCC4, FEN1, RAD23B
9
Show member pathways
5.2DDB2, ERCC1, ERCC3, ERCC4, ERCC5, EXO1

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
1DNA replication factor A complexGO:000566210.7ERCC5, XPA
2holo TFIIH complexGO:000567510.5ERCC3, ERCC5
3nucleotide-excision repair complexGO:000010910.1ERCC1, ERCC4
4nucleotide-excision repair factor 1 complexGO:00001109.7ERCC1, ERCC4, XPA
5ERCC4-ERCC1 complexGO:00705229.6ERCC1, ERCC4, XRCC1
6nuclear chromosome, telomeric regionGO:00007848.8ERCC1, ERCC4, FEN1, XRCC1, XRCC3
7transcription factor TFIID complexGO:00056698.8ERCC1, ERCC3, ERCC4
8nucleoplasmGO:00056546.0DDB2, ERCC1, ERCC3, ERCC4, ERCC5, EXO1
9nucleusGO:00056345.6DDB2, ERCC1, ERCC3, ERCC4, ERCC5, EXO1

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

(show all 36)
idNameGO IDScoreTop Affiliating Genes
1isotype switchingGO:004519010.5ERCC1, EXO1
2DNA synthesis involved in DNA repairGO:000073110.4EXO1, XRCC3
3positive regulation of mitotic cell cycle spindle assembly checkpointGO:009026710.4GEN1, XRCC3
4regulation of centrosome duplicationGO:001082410.4GEN1, XRCC3
5resolution of mitotic recombination intermediatesGO:007114010.4GEN1, XRCC3
6strand displacementGO:000073210.3EXO1, XRCC3
7telomere maintenance via recombinationGO:000072210.2FEN1, XRCC3
8base-excision repairGO:000628410.0FEN1, XPA, XRCC1
9DNA recombinationGO:000631010.0ERCC1, EXO1, XRCC3
10nucleotide-excision repair involved in interstrand cross-link repairGO:190125510.0ERCC4, XPA
11negative regulation of telomere maintenanceGO:003220510.0ERCC1, ERCC4
12negative regulation of telomere maintenance via telomere lengtheningGO:19043579.9ERCC4, XRCC3
13t-circle formationGO:00906569.9ERCC1, EXO1, XRCC3
14nucleic acid phosphodiester bond hydrolysisGO:00903059.9ERCC1, EXO1, FEN1, GEN1
15embryonic organ developmentGO:00485689.9ERCC1, ERCC3, RAD23B
16response to oxidative stressGO:00069799.8ERCC1, ERCC3, XPA
17nucleotide-excision repair, DNA damage recognitionGO:00007159.8DDB2, RAD23B, XPA
18interstrand cross-link repairGO:00362979.5ERCC1, ERCC4, XRCC3
19double-strand break repair via nonhomologous end joiningGO:00063039.5ERCC1, ERCC4, XRCC1
20negative regulation of protection from non-homologous end joining at telomereGO:19057659.4ERCC1, ERCC4, XRCC1
21telomeric DNA-containing double minutes formationGO:00618199.3ERCC1, ERCC4, XRCC1
22nucleotide-excision repair, DNA duplex unwindingGO:00007179.2DDB2, ERCC3, RAD23B, XPA
23UV-damage excision repairGO:00709149.1DDB2, ERCC1, XPA
24nucleotide-excision repair, preincision complex assemblyGO:00062948.9DDB2, ERCC3, ERCC5, RAD23B, XPA
25double-strand break repair via homologous recombinationGO:00007248.8ERCC4, FEN1, GEN1, XRCC1, XRCC3
26response to UVGO:00094118.5DDB2, ERCC3, ERCC4, ERCC5, XPA
27nucleotide-excision repair, DNA incisionGO:00336838.2DDB2, ERCC1, ERCC3, ERCC4, ERCC5, XPA
28nucleotide-excision repair, DNA incision, 3-to lesionGO:00062958.2DDB2, ERCC1, ERCC3, ERCC4, ERCC5, XPA
29nucleotide-excision repair, DNA incision, 5-to lesionGO:00062968.2DDB2, ERCC1, ERCC3, ERCC4, ERCC5, XPA
30nucleotide-excision repair, preincision complex stabilizationGO:00062938.2DDB2, ERCC1, ERCC3, ERCC4, ERCC5, XPA
31UV protectionGO:00096508.1ERCC1, ERCC3, ERCC4, ERCC5, FEN1, XPA
32global genome nucleotide-excision repairGO:00709118.1DDB2, ERCC1, ERCC3, ERCC4, RAD23B, XPA
33transcription-coupled nucleotide-excision repairGO:00062838.0ERCC1, ERCC3, ERCC4, ERCC5, XPA, XRCC1
34nucleotide-excision repairGO:00062897.8DDB2, ERCC1, ERCC3, ERCC4, ERCC5, RAD23B
35cellular response to DNA damage stimulusGO:00069746.0DDB2, ERCC1, ERCC3, ERCC4, ERCC5, EXO1
36DNA repairGO:00062815.9DDB2, ERCC1, ERCC3, ERCC4, ERCC5, EXO1

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

(show all 21)
idNameGO IDScoreTop Affiliating Genes
15-3 exonuclease activityGO:000840910.7EXO1, FEN1
2flap endonuclease activityGO:004825610.7EXO1, FEN1
3crossover junction endodeoxyribonuclease activityGO:000882110.6GEN1, XRCC3
4hydrolase activity, acting on ester bondsGO:001678810.4ERCC5, EXO1, FEN1
5RNA-DNA hybrid ribonuclease activityGO:000452310.4EXO1, FEN1
6DNA-dependent ATPase activityGO:000809410.3ERCC3, XRCC3
7double-stranded DNA bindingGO:000369010.3ERCC5, FEN1, XRCC3
8catalytic activityGO:000382410.1ERCC5, EXO1, FEN1, GEN1
9endodeoxyribonuclease activityGO:00045209.9ERCC4, ERCC5, GEN1
103 overhang single-stranded DNA endodeoxyribonuclease activityGO:19905999.6ERCC1, ERCC4, XRCC1
11single-stranded DNA endodeoxyribonuclease activityGO:00000149.5ERCC1, ERCC4
12protein N-terminus bindingGO:00474859.4ERCC3, ERCC4, ERCC5
13protein C-terminus bindingGO:00080229.4ERCC1, ERCC3, ERCC4
14TFIID-class transcription factor bindingGO:00010949.3ERCC1, ERCC4
15endonuclease activityGO:00045198.9ERCC1, ERCC4, ERCC5, EXO1, FEN1, GEN1
16nuclease activityGO:00045188.9ERCC1, ERCC4, ERCC5, EXO1, FEN1, GEN1
17single-stranded DNA bindingGO:00036978.4ERCC1, ERCC4, ERCC5, RAD23B, XRCC3
18hydrolase activityGO:00167878.4ERCC1, ERCC3, ERCC4, ERCC5, EXO1, FEN1
19damaged DNA bindingGO:00036847.4DDB2, ERCC1, ERCC3, ERCC4, FEN1, RAD23B
20DNA bindingGO:00036777.0DDB2, ERCC1, ERCC3, ERCC4, ERCC5, EXO1
21protein bindingGO:00055156.2DDB2, ERCC1, ERCC3, ERCC4, ERCC5, EXO1

Sources for Xeroderma Pigmentosum, Group G

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet