MCID: XRD029
MIFTS: 49

Xeroderma Pigmentosum, Complementation Group a

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Xeroderma Pigmentosum, Complementation Group a

MalaCards integrated aliases for Xeroderma Pigmentosum, Complementation Group a:

Name: Xeroderma Pigmentosum, Complementation Group a 57 40
Xeroderma Pigmentosum, Type 1 76 53 29 6
Xeroderma Pigmentosum, Group a 57 13 73
Xp1 57 12 75
Xeroderma Pigmentosum Complementation Group a 12 75
Xeroderma Pigmentosum Group a 12 15
Xeroderma Pigmentosum I 57 75
Xp Group a 12 75
Xpa 57 12
Xeroderma Pigmentosum I; Xp1 57
Xeroderma Pigmentosum 1 12
Xp, Group a 57
Xp-a 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive
with at least 4 loci


HPO:

32
xeroderma pigmentosum, complementation group a:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Xeroderma Pigmentosum, Complementation Group a

OMIM : 57 Xeroderma pigmentosum is a genetically heterogeneous autosomal recessive disorder characterized by increased sensitivity to sunlight with the development of carcinomas at an early age. Some patients develop neurologic symptoms or a more severe clinical phenotype known as de Sanctis-Cacchione syndrome (278800) (Satokata et al., 1992). See also XPB (610651), XPC (278720), XPD (278730), XPE (278740), XPF (278760), XPG (278780), and variant XP (XPV; 278750). (278700)

MalaCards based summary : Xeroderma Pigmentosum, Complementation Group a, also known as xeroderma pigmentosum, type 1, is related to xeroderma pigmentosum, variant type and xeroderma pigmentosum, type 9. An important gene associated with Xeroderma Pigmentosum, Complementation Group a is XPA (XPA, DNA Damage Recognition And Repair Factor), and among its related pathways/superpathways are DNA Double-Strand Break Repair and Transcription-Coupled Nucleotide Excision Repair (TC-NER). Affiliated tissues include skin, brain and tongue, and related phenotypes are microcephaly and sensorineural hearing impairment

Disease Ontology : 12 A xeroderma pigmentosum characterized by involvement of the central and peripheral nervous systems in addition to cutaneous lesions that has material basis in caused by homozygous or compound heterozygous mutation in the XPA gene on chromosome 9q22.

UniProtKB/Swiss-Prot : 75 Xeroderma pigmentosum complementation group A: 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. XP-A patients show the most severe skin symptoms and progressive neurological disorders.

Wikipedia : 76 Xeroderma pigmentosum (XP) is a genetic disorder in which there is a decreased ability to repair DNA... more...

Related Diseases for Xeroderma Pigmentosum, Complementation Group a

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



Diseases related to Xeroderma Pigmentosum, Complementation Group a

Symptoms & Phenotypes for Xeroderma Pigmentosum, Complementation Group a

Symptoms via clinical synopsis from OMIM:

57
Neuro:
ataxia
spasticity
microcephaly
mental deterioration
hyporeflexia
more
Skin:
telangiectasia
poikiloderma
skin atrophy
keratoacanthomas
skin photosensitivity
more
Lab:
defective dna repair after ultraviolet radiation damage

Eyes:
photophobia
keratitis
conjunctivitis
ectropion
entropion

Misc:
minimal to severe neurologic features


Clinical features from OMIM:

278700

Human phenotypes related to Xeroderma Pigmentosum, Complementation Group a:

32 (show all 18)
# Description HPO Frequency HPO Source Accession
1 microcephaly 32 HP:0000252
2 sensorineural hearing impairment 32 HP:0000407
3 keratitis 32 HP:0000491
4 conjunctivitis 32 HP:0000509
5 photophobia 32 HP:0000613
6 entropion 32 HP:0000621
7 ectropion 32 HP:0000656
8 cutaneous photosensitivity 32 HP:0000992
9 telangiectasia 32 HP:0001009
10 poikiloderma 32 HP:0001029
11 intellectual disability 32 HP:0001249
12 ataxia 32 HP:0001251
13 spasticity 32 HP:0001257
14 hyporeflexia 32 HP:0001265
15 choreoathetosis 32 HP:0001266
16 mental deterioration 32 HP:0001268
17 defective dna repair after ultraviolet radiation damage 32 HP:0003079
18 dermal atrophy 32 HP:0004334

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

26 (show all 18)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 10 ERCC1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-123 10 NCBP1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-130 10 PSAP
4 Increased shRNA abundance (Z-score > 2) GR00366-A-161 10 ERCC1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-168 10 NCBP1 PARP1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-169 10 ERCC1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-170 10 PARP1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-2 10 PSAP
9 Increased shRNA abundance (Z-score > 2) GR00366-A-25 10 NCBP1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-32 10 PARP1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-4 10 PARP1 PSAP
12 Increased shRNA abundance (Z-score > 2) GR00366-A-52 10 PSAP NCBP1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-6 10 NCBP1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-63 10 PSAP ERCC1 NCBP1 PARP1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-74 10 PARP1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-85 10 ERCC1
17 Decreased viability with cisplatin GR00101-A-4 9.16 POLH RPA1
18 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.1 ERCC1 GPN1 PARP1 POLH RPA1 XPA

Drugs & Therapeutics for Xeroderma Pigmentosum, Complementation Group a

Search Clinical Trials , NIH Clinical Center for Xeroderma Pigmentosum, Complementation Group a

Genetic Tests for Xeroderma Pigmentosum, Complementation Group a

Genetic tests related to Xeroderma Pigmentosum, Complementation Group a:

# Genetic test Affiliating Genes
1 Xeroderma Pigmentosum, Type 1 29 XPA

Anatomical Context for Xeroderma Pigmentosum, Complementation Group a

MalaCards organs/tissues related to Xeroderma Pigmentosum, Complementation Group a:

41
Skin, Brain, Tongue, B Cells, Lung, Liver

Publications for Xeroderma Pigmentosum, Complementation Group a

Articles related to Xeroderma Pigmentosum, Complementation Group a:

(show top 50) (show all 89)
# Title Authors Year
1
Case of xeroderma pigmentosum group A with West syndrome. ( 29797530 )
2018
2
Analysis of DNA binding by human factor xeroderma pigmentosum complementation group A (XPA) provides insight into its interactions with nucleotide excision repair substrates. ( 28860187 )
2017
3
An XPA gene splicing mutation resulting in trace protein expression in an elderly patient with xeroderma pigmentosum group A without neurological abnormalities. ( 27603812 )
2017
4
Diagnosis of Xeroderma Pigmentosum Groups A and C by Detection of Two Prevalent Mutations in West Algerian Population: A Rapid Genotyping Tool for the Frequent XPC Mutation c.1643_1644delTG. ( 27413738 )
2016
5
Xeroderma Pigmentosum Group A Suppresses Mutagenesis Caused by Clustered Oxidative DNA Adducts in the Human Genome. ( 26559182 )
2015
6
Mutational spectrum of Xeroderma pigmentosum group A in Egyptian patients. ( 24135642 )
2014
7
Effect of point substitutions within the minimal DNA-binding domain of xeroderma pigmentosum group A protein on interaction with DNA intermediates of nucleotide excision repair. ( 25100013 )
2014
8
Progressive dysautonomia in two patients with xeroderma pigmentosum group A. ( 24679606 )
2014
9
Prenatal diagnosis of xeroderma pigmentosum group A in Japan. ( 22168765 )
2012
10
Poly(ADP-ribose) contributes to an association between poly(ADP-ribose) polymerase-1 and xeroderma pigmentosum complementation group A in nucleotide excision repair. ( 23038248 )
2012
11
Decreased repair of singlet oxygen-induced DNA damage in xeroderma pigmentosum group A cells determined by plasmid host cell reactivation. ( 22377136 )
2012
12
Lesions of cortical GABAergic interneurons and acetylcholine neurons in xeroderma pigmentosum group A. ( 21782366 )
2012
13
Neuroimaging features of xeroderma pigmentosum group A. ( 22574268 )
2012
14
Cyclosporin A inhibits nucleotide excision repair via downregulation of the xeroderma pigmentosum group A and G proteins, which is mediated by calcineurin inhibition. ( 21707758 )
2011
15
Nucleotide excision repair by mutant xeroderma pigmentosum group A (XPA) proteins with deficiency in interaction with RPA. ( 21148310 )
2011
16
Low-dose levodopa is effective for laryngeal dystonia in xeroderma pigmentosum group A. ( 19819090 )
2010
17
XPA gene mutations resulting in subtle truncation of protein in xeroderma pigmentosum group A patients with mild skin symptoms. ( 20574439 )
2010
18
Localization of xeroderma pigmentosum group A protein and replication protein A on damaged DNA in nucleotide excision repair. ( 20693538 )
2010
19
Proanthocyanidins inhibit photocarcinogenesis through enhancement of DNA repair and xeroderma pigmentosum group A-dependent mechanism. ( 20947490 )
2010
20
Melanocyte-stimulating hormone directly enhances UV-Induced DNA repair in keratinocytes by a xeroderma pigmentosum group A-dependent mechanism. ( 20388774 )
2010
21
Identification of a primarily neurological phenotypic expression of xeroderma pigmentosum complementation group A in a Tunisian family. ( 20199544 )
2010
22
Checkpoint kinase ATR promotes nucleotide excision repair of UV-induced DNA damage via physical interaction with xeroderma pigmentosum group A. ( 19586908 )
2009
23
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
24
Oxidative damage induced genotoxic effects in human fibroblasts from Xeroderma Pigmentosum group A patients. ( 18585952 )
2008
25
Impaired spermatogenesis and elevated spontaneous tumorigenesis in xeroderma pigmentosum group A gene (Xpa)-deficient mice. ( 18790090 )
2008
26
Mouse models for xeroderma pigmentosum group A and group C show divergent cancer phenotypes. ( 18316597 )
2008
27
Involvement of xeroderma pigmentosum group A (XPA) in progeria arising from defective maturation of prelamin A. ( 17848622 )
2008
28
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
29
RecQ4 facilitates UV light-induced DNA damage repair through interaction with nucleotide excision repair factor xeroderma pigmentosum group A (XPA). ( 18693251 )
2008
30
Xeroderma pigmentosum complementation group A protein is driven to nucleotide excision repair sites by the electrostatic potential of distorted DNA. ( 17765667 )
2007
31
High-mobility group A1 proteins inhibit expression of nucleotide excision repair factor xeroderma pigmentosum group A. ( 17616660 )
2007
32
Recognition of helical kinks by xeroderma pigmentosum group A protein triggers DNA excision repair. ( 16491090 )
2006
33
Phosphorylation of nucleotide excision repair factor xeroderma pigmentosum group A by ataxia telangiectasia mutated and Rad3-related- dependent checkpoint pathway promotes cell survival in response to UV irradiation. ( 16540648 )
2006
34
Thermodynamic properties of damaged DNA and its recognition by xeroderma pigmentosum group A protein and replication protein A. ( 16405861 )
2006
35
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
36
The photocarcinogenesis of antibiotic lomefloxacin and UVA radiation is enhanced in xeroderma pigmentosum group A gene-deficient mice. ( 16117798 )
2005
37
A novel XPA gene mutation and its functional analysis in a Japanese patient with xeroderma pigmentosum group A. ( 16098033 )
2005
38
Mutation spectra induced by alpha-acetoxytamoxifen-DNA adducts in human DNA repair proficient and deficient (xeroderma pigmentosum complementation group A) cells. ( 15924439 )
2005
39
Oxidative nucleotide damage and superoxide dismutase expression in the brains of xeroderma pigmentosum group A and Cockayne syndrome. ( 15626539 )
2005
40
Brainstem and basal ganglia lesions in xeroderma pigmentosum group A. ( 15535132 )
2004
41
DNA-based prenatal diagnosis in a Chinese family with xeroderma pigmentosum group A. ( 15214909 )
2004
42
p53 haploinsufficiency profoundly accelerates the onset of tongue tumors in mice lacking the xeroderma pigmentosum group A gene. ( 14578172 )
2003
43
Xeroderma pigmentosum group a protein and chemotherapy resistance in human germ cell tumors. ( 14563950 )
2003
44
Cloning and expression of xeroderma pigmentosum complementation group A cDNA and the identification of its recombinant protein. ( 12947563 )
2003
45
Xeroderma pigmentosum group A protein loads as a separate factor onto DNA lesions. ( 12897146 )
2003
46
Xeroderma pigmentosum complementation group A protein (XPA) modulates RPA-DNA interactions via enhanced complex stability and inhibition of strand separation activity. ( 11859086 )
2002
47
Functional studies on the interaction between human replication protein A and Xeroderma pigmentosum group A complementing protein (XPA). ( 11911469 )
2002
48
Complementation of the DNA repair deficiency in human xeroderma pigmentosum group a and C cells by recombinant adenovirus-mediated gene transfer. ( 12396616 )
2002
49
Enhanced spontaneous and aflatoxin-induced liver tumorigenesis in xeroderma pigmentosum group A gene-deficient mice. ( 11960916 )
2002
50
Polymorphisms of the DNA repair gene xeroderma pigmentosum group A and risk of primary lung cancer. ( 12376498 )
2002

Variations for Xeroderma Pigmentosum, Complementation Group a

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

75
# Symbol AA change Variation ID SNP ID
1 XPA p.Pro94Leu VAR_007727
2 XPA p.Cys108Phe VAR_007728 rs104894131
3 XPA p.Arg130Lys VAR_007729
4 XPA p.Gln185His VAR_007730 rs746617574
5 XPA p.His244Arg VAR_007731 rs144725456

ClinVar genetic disease variations for Xeroderma Pigmentosum, Complementation Group a:

6
(show all 22)
# Gene Variation Type Significance SNP ID Assembly Location
1 XPA NM_000380.3(XPA): c.348T> A (p.Tyr116Ter) single nucleotide variant Pathogenic rs104894134 GRCh38 Chromosome 9, 97689575: 97689575
2 XPA XPA, IVS1DS, T-G, +2 single nucleotide variant Pathogenic
3 XPA XPA, IVS3AS, G-C single nucleotide variant Pathogenic
4 XPA NM_000380.3(XPA): c.323G> T (p.Cys108Phe) single nucleotide variant Pathogenic rs104894131 GRCh37 Chromosome 9, 100451882: 100451882
5 XPA NM_000380.3(XPA): c.323G> T (p.Cys108Phe) single nucleotide variant Pathogenic rs104894131 GRCh38 Chromosome 9, 97689600: 97689600
6 XPA NM_000380.3(XPA): c.349_353delCTTAT (p.Leu117Glufs) deletion Pathogenic GRCh37 Chromosome 9, 100451852: 100451856
7 XPA NM_000380.3(XPA): c.349_353delCTTAT (p.Leu117Glufs) deletion Pathogenic GRCh38 Chromosome 9, 97689570: 97689574
8 XPA NM_000380.3(XPA): c.682C> T (p.Arg228Ter) single nucleotide variant Pathogenic rs104894132 GRCh37 Chromosome 9, 100437861: 100437861
9 XPA NM_000380.3(XPA): c.682C> T (p.Arg228Ter) single nucleotide variant Pathogenic rs104894132 GRCh38 Chromosome 9, 97675579: 97675579
10 XPA NM_000380.3(XPA): c.619C> T (p.Arg207Ter) single nucleotide variant Pathogenic rs104894133 GRCh37 Chromosome 9, 100447259: 100447259
11 XPA NM_000380.3(XPA): c.619C> T (p.Arg207Ter) single nucleotide variant Pathogenic rs104894133 GRCh38 Chromosome 9, 97684977: 97684977
12 XPA NM_000380.3(XPA): c.348T> A (p.Tyr116Ter) single nucleotide variant Pathogenic rs104894134 GRCh37 Chromosome 9, 100451857: 100451857
13 XPA NM_000380.3(XPA): c.545_546insTA (p.Leu182Phefs) insertion Pathogenic rs786205205 GRCh37 Chromosome 9, 100449387: 100449388
14 XPA NM_000380.3(XPA): c.545_546insTA (p.Leu182Phefs) insertion Pathogenic rs786205205 GRCh38 Chromosome 9, 97687105: 97687106
15 XPC NM_004628.4(XPC): c.2034-1G> A single nucleotide variant Likely pathogenic rs869025275 GRCh38 Chromosome 3, 14152417: 14152417
16 XPC NM_004628.4(XPC): c.2034-1G> A single nucleotide variant Likely pathogenic rs869025275 GRCh37 Chromosome 3, 14193917: 14193917
17 XPA NM_000380.3(XPA): c.390-1G> C single nucleotide variant Pathogenic rs750218942 GRCh37 Chromosome 9, 100449544: 100449544
18 XPA NM_000380.3(XPA): c.390-1G> C single nucleotide variant Pathogenic rs750218942 GRCh38 Chromosome 9, 97687262: 97687262
19 XPA NM_000380.3(XPA): c.335_338delTTATinsCATAAGAAA (p.Phe112Serfs) indel Pathogenic rs886039226 GRCh37 Chromosome 9, 100451867: 100451870
20 XPA NM_000380.3(XPA): c.335_338delTTATinsCATAAGAAA (p.Phe112Serfs) indel Pathogenic rs886039226 GRCh38 Chromosome 9, 97689585: 97689588
21 XPA NM_000380.3(XPA): c.648_649delGA (p.Lys217Glufs) deletion Likely pathogenic rs1057519018 GRCh37 Chromosome 9, 100447229: 100447230
22 XPA NM_000380.3(XPA): c.648_649delGA (p.Lys217Glufs) deletion Likely pathogenic rs1057519018 GRCh38 Chromosome 9, 97684947: 97684948

Expression for Xeroderma Pigmentosum, Complementation Group a

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

Pathways for Xeroderma Pigmentosum, Complementation Group a

Pathways related to Xeroderma Pigmentosum, Complementation Group a according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.81 ERCC1 PARP1 POLH RPA1 XPA
2
Show member pathways
12.47 ERCC1 PARP1 RPA1 XPA
3
Show member pathways
12.28 ERCC1 PARP1 POLH XPA
4 12.03 ERCC1 POLH RPA1 XPA
5
Show member pathways
11.93 ERCC1 POLH RPA1
6 11.47 ERCC1 POLH RPA1
7 11.2 ERCC1 POLH XPA
8
Show member pathways
10.99 ERCC1 PARP1 RPA1 XPA
9 10.59 ERCC1 POLH XPA

GO Terms for Xeroderma Pigmentosum, Complementation Group a

Cellular components related to Xeroderma Pigmentosum, Complementation Group a according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.72 GPN1 HSPA1A NCBP1 PARP1 PSAP
2 nucleoplasm GO:0005654 9.56 ERCC1 GPN1 HSPA1A NCBP1 PARP1 POLH
3 nuclear chromosome, telomeric region GO:0000784 9.33 ERCC1 PARP1 RPA1
4 DNA replication factor A complex GO:0005662 9.26 RPA1 XPA
5 nucleotide-excision repair factor 1 complex GO:0000110 8.62 ERCC1 XPA

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

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 9.83 ERCC1 PARP1 POLH RPA1 XPA
2 DNA repair GO:0006281 9.72 ERCC1 PARP1 POLH RPA1 XPA
3 transcription-coupled nucleotide-excision repair GO:0006283 9.65 ERCC1 RPA1 XPA
4 nucleotide-excision repair GO:0006289 9.63 ERCC1 RPA1 XPA
5 double-strand break repair GO:0006302 9.6 ERCC1 PARP1
6 interstrand cross-link repair GO:0036297 9.59 ERCC1 RPA1
7 telomere maintenance GO:0000723 9.58 PARP1 RPA1
8 DNA damage response, detection of DNA damage GO:0042769 9.58 PARP1 RPA1
9 global genome nucleotide-excision repair GO:0070911 9.58 ERCC1 PARP1 XPA
10 base-excision repair GO:0006284 9.57 RPA1 XPA
11 translesion synthesis GO:0019985 9.56 POLH RPA1
12 nucleotide-excision repair, DNA incision GO:0033683 9.56 ERCC1 PARP1 RPA1 XPA
13 nucleotide-excision repair, DNA damage recognition GO:0000715 9.55 PARP1 XPA
14 nucleotide-excision repair, DNA duplex unwinding GO:0000717 9.54 PARP1 XPA
15 nucleotide-excision repair, preincision complex assembly GO:0006294 9.54 PARP1 RPA1 XPA
16 error-free translesion synthesis GO:0070987 9.52 POLH RPA1
17 UV protection GO:0009650 9.51 ERCC1 XPA
18 UV-damage excision repair GO:0070914 9.49 ERCC1 XPA
19 nucleotide-excision repair, DNA incision, 5-to lesion GO:0006296 9.46 ERCC1 PARP1 RPA1 XPA
20 nucleotide-excision repair, DNA incision, 3-to lesion GO:0006295 9.26 ERCC1 PARP1 RPA1 XPA
21 nucleotide-excision repair, preincision complex stabilization GO:0006293 8.92 ERCC1 PARP1 RPA1 XPA

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

# Name GO ID Score Top Affiliating Genes
1 damaged DNA binding GO:0003684 8.92 ERCC1 POLH RPA1 XPA

Sources for Xeroderma Pigmentosum, Complementation Group a

3 CDC
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