MCID: XRD018
MIFTS: 51

Xeroderma Pigmentosum, Group a malady

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Xeroderma Pigmentosum, Group a

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Aliases & Descriptions for Xeroderma Pigmentosum, Group a:

Name: Xeroderma Pigmentosum, Group a 52 12 68
Xeroderma Pigmentosum I 70 27
Xeroderma Pigmentosum Complementation Group a 70
Xeroderma Pigmentosum, Type 1 48
 
Xp Group a 70
Xp-a 70
Xp1 70

Characteristics:

HPO:

64
xeroderma pigmentosum, group a:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 278700
MedGen37 CN068460
MeSH39 D014983

Summaries for Xeroderma Pigmentosum, Group a

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OMIM:52 Xeroderma pigmentosum is a genetically heterogeneous autosomal recessive disorder characterized by increased... (278700) more...

MalaCards based summary: Xeroderma Pigmentosum, Group a, also known as xeroderma pigmentosum i, is related to xeroderma pigmentosum, type 9 and cockayne syndrome, and has symptoms including microcephaly, sensorineural hearing impairment and keratitis. An important gene associated with Xeroderma Pigmentosum, Group a is XPA (XPA, DNA Damage Recognition And Repair Factor), and among its related pathways are p53 Pathway (RnD) and Platinum Pathway, Pharmacokinetics/Pharmacodynamics. Affiliated tissues include skin, tongue and b cells, and related mouse phenotypes are G0/1 arrest and Increased G1 DNA content.

UniProtKB/Swiss-Prot:70 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.

Related Diseases for Xeroderma Pigmentosum, Group a

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Graphical network of diseases related to Xeroderma Pigmentosum, Group a:



Diseases related to xeroderma pigmentosum, group a

Symptoms & Phenotypes for Xeroderma Pigmentosum, Group a

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Symptoms by clinical synopsis from OMIM:

278700

Clinical features from OMIM:

278700

Human phenotypes related to Xeroderma Pigmentosum, Group a:

 64 (show all 18)
id Description HPO Frequency HPO Source Accession
1 microcephaly64 HP:0000252
2 sensorineural hearing impairment64 HP:0000407
3 keratitis64 HP:0000491
4 conjunctivitis64 HP:0000509
5 photophobia64 HP:0000613
6 entropion64 HP:0000621
7 ectropion64 HP:0000656
8 cutaneous photosensitivity64 HP:0000992
9 telangiectasia64 HP:0001009
10 poikiloderma64 HP:0001029
11 intellectual disability64 HP:0001249
12 ataxia64 HP:0001251
13 spasticity64 HP:0001257
14 hyporeflexia64 HP:0001265
15 choreoathetosis64 HP:0001266
16 mental deterioration64 HP:0001268
17 defective dna repair after ultraviolet radiation damage64 HP:0003079
18 dermal atrophy64 HP:0004334

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

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00098-A-29.4PCNA, RPA1, XPC
2GR00098-A-18.9PCNA, RPA1, XPA, XPC
3GR00250-A-38.3ERCC4, PCNA, RPA1, XPA, XPC

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

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107687.5ERCC4, PCNA, RPA1, XPA, XPC

Drugs & Therapeutics for Xeroderma Pigmentosum, Group a

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Drugs for Xeroderma Pigmentosum, Group a (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 10)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
LenalidomideapprovedPhase 2718191732-72-6216326
Synonyms:
1-oxo-2-(2,6-Dioxopiperidin-3-yl)-4-aminoisoindoline
191732-72-6
3-(4-Amino-1-oxo-1,3-dihydro-2H-isoindol-2-yl)piperidine-2,6-dione
3-(4-Amino-1-oxoisoindolin-2-yl)piperidine-2,6-dione
3-(7-Amino-3-oxo-1H-isoindol-2-yl)-piperidine-2,6-dione
3-(7-amino-3-oxo-1H-isoindol-2-yl)piperidine-2,6-dione
346670-73-3
443912-14-9
AC-914
AC1L50II
AKOS005146276
ALBB-015321
Bio-0168
C467567
CC 5013
CC-5013
CC-5013, Revlimid, Lenalidomide
CC5013
CDC 501
CDC-501
CDC-5013
CHEMBL848
CID216326
Celgene brand of lenalidomide
D04687
 
DB00480
EC-000.2340
ENMD-0997
I06-0831
IMID-1
IMID-5013
IMiD3
IMiD3 cpd
IMid-1
LS-184040
Lenalidomide
Lenalidomide (USAN/INN)
Lenalidomide [USAN]
MolPort-003-848-370
NCGC00167491-01
NSC747972
Revamid
Revimid
Revlimid
Revlimid (Celgene)
Revlimid (TN)
S1029_Selleck
STK639603
Thalidomide analog CC-5013
UNII-F0P408N6V4
lenalidomide
2Angiogenesis InhibitorsPhase 24143
3Anti-Infective AgentsPhase 221402
4Immunosuppressive AgentsPhase 212770
5Anti-Bacterial AgentsPhase 210884
6Angiogenesis Modulating AgentsPhase 24072
7Sunscreening Agents113
8Radiation-Protective Agents466
9Dermatologic Agents5674
10Protective Agents7190

Interventional clinical trials:

idNameStatusNCT IDPhase
1T4N5 Liposome Lotion Compared With Placebo Lotion for Preventing Actinic Keratoses in Patients With Xeroderma PigmentosumUnknown statusNCT00002811Phase 3
2Lenalidomide in Kaposi Disease Associated With HIV InfectionTerminatedNCT01282047Phase 2
3Use of an SPF30 Sunscreen and an After-sun-lotion in Skin Cancer Risk PatientsCompletedNCT00555633
4Influence of Genetic Polymorphisms in the Pathogenesis of Endometriosis in Sardinian PopulationNot yet recruitingNCT02388854

Search NIH Clinical Center for Xeroderma Pigmentosum, Group a

Genetic Tests for Xeroderma Pigmentosum, Group a

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Genetic tests related to Xeroderma Pigmentosum, Group a:

id Genetic test Affiliating Genes
1 Xeroderma Pigmentosum, Type 127

Anatomical Context for Xeroderma Pigmentosum, Group a

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

36
Skin, Tongue, B cells, Lung, Liver, Brain

Publications for Xeroderma Pigmentosum, Group a

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Articles related to Xeroderma Pigmentosum, Group a:

(show top 50)    (show all 70)
idTitleAuthorsYear
1
Xeroderma Pigmentosum Group A Suppresses Mutagenesis Caused by Clustered Oxidative DNA Adducts in the Human Genome. (26559182)
2015
2
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
3
Mutational spectrum of Xeroderma pigmentosum group A in Egyptian patients. (24135642)
2014
4
Progressive dysautonomia in two patients with xeroderma pigmentosum group A. (24679606)
2014
5
Lesions of cortical GABAergic interneurons and acetylcholine neurons in xeroderma pigmentosum group A. (21782366)
2012
6
Prenatal diagnosis of xeroderma pigmentosum group A in Japan. (22168765)
2012
7
Decreased repair of singlet oxygen-induced DNA damage in xeroderma pigmentosum group A cells determined by plasmid host cell reactivation. (22377136)
2012
8
Neuroimaging features of xeroderma pigmentosum group A. (22574268)
2012
9
Nucleotide excision repair by mutant xeroderma pigmentosum group A (XPA) proteins with deficiency in interaction with RPA. (21148310)
2011
10
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
11
Low-dose levodopa is effective for laryngeal dystonia in xeroderma pigmentosum group A. (19819090)
2010
12
XPA gene mutations resulting in subtle truncation of protein in xeroderma pigmentosum group A patients with mild skin symptoms. (20574439)
2010
13
Localization of xeroderma pigmentosum group A protein and replication protein A on damaged DNA in nucleotide excision repair. (20693538)
2010
14
Melanocyte-stimulating hormone directly enhances UV-Induced DNA repair in keratinocytes by a xeroderma pigmentosum group A-dependent mechanism. (20388774)
2010
15
Proanthocyanidins inhibit photocarcinogenesis through enhancement of DNA repair and xeroderma pigmentosum group A-dependent mechanism. (20947490)
2010
16
Checkpoint kinase ATR promotes nucleotide excision repair of UV-induced DNA damage via physical interaction with xeroderma pigmentosum group A. (19586908)
2009
17
Impaired spermatogenesis and elevated spontaneous tumorigenesis in xeroderma pigmentosum group A gene (Xpa)-deficient mice. (18790090)
2008
18
Involvement of xeroderma pigmentosum group A (XPA) in progeria arising from defective maturation of prelamin A. (17848622)
2008
19
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
20
Oxidative damage induced genotoxic effects in human fibroblasts from Xeroderma Pigmentosum group A patients. (18585952)
2008
21
RecQ4 facilitates UV light-induced DNA damage repair through interaction with nucleotide excision repair factor xeroderma pigmentosum group A (XPA). (18693251)
2008
22
Mouse models for xeroderma pigmentosum group A and group C show divergent cancer phenotypes. (18316597)
2008
23
High-mobility group A1 proteins inhibit expression of nucleotide excision repair factor xeroderma pigmentosum group A. (17616660)
2007
24
Recognition of helical kinks by xeroderma pigmentosum group A protein triggers DNA excision repair. (16491090)
2006
25
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
26
Thermodynamic properties of damaged DNA and its recognition by xeroderma pigmentosum group A protein and replication protein A. (16405861)
2006
27
The photocarcinogenesis of antibiotic lomefloxacin and UVA radiation is enhanced in xeroderma pigmentosum group A gene-deficient mice. (16117798)
2005
28
A novel XPA gene mutation and its functional analysis in a Japanese patient with xeroderma pigmentosum group A. (16098033)
2005
29
Oxidative nucleotide damage and superoxide dismutase expression in the brains of xeroderma pigmentosum group A and Cockayne syndrome. (15626539)
2005
30
DNA-based prenatal diagnosis in a Chinese family with xeroderma pigmentosum group A. (15214909)
2004
31
Brainstem and basal ganglia lesions in xeroderma pigmentosum group A. (15535132)
2004
32
p53 haploinsufficiency profoundly accelerates the onset of tongue tumors in mice lacking the xeroderma pigmentosum group A gene. (14578172)
2003
33
Xeroderma pigmentosum group A protein loads as a separate factor onto DNA lesions. (12897146)
2003
34
Xeroderma pigmentosum group a protein and chemotherapy resistance in human germ cell tumors. (14563950)
2003
35
Enhanced spontaneous and aflatoxin-induced liver tumorigenesis in xeroderma pigmentosum group A gene-deficient mice. (11960916)
2002
36
Complementation of the DNA repair deficiency in human xeroderma pigmentosum group a and C cells by recombinant adenovirus-mediated gene transfer. (12396616)
2002
37
Functional studies on the interaction between human replication protein A and Xeroderma pigmentosum group A complementing protein (XPA). (11911469)
2002
38
Polymorphisms of the DNA repair gene xeroderma pigmentosum group A and risk of primary lung cancer. (12376498)
2002
39
Polymorphisms in the human xeroderma pigmentosum group A gene and their impact on cell survival and nucleotide excision repair. (12509227)
2002
40
UV-induced skin carcinogenesis in xeroderma pigmentosum group A (XPA) gene-knockout mice with nucleotide excision repair-deficiency. (11376684)
2001
41
Carcinogen-induced inflammation and immunosuppression are enhanced in xeroderma pigmentosum group A model mice associated with hyperproduction of prostaglandin E2. (11313422)
2001
42
Early postnatal ataxia and abnormal cerebellar development in mice lacking Xeroderma pigmentosum Group A and Cockayne syndrome Group B DNA repair genes. (11687625)
2001
43
Xeroderma pigmentosum group A gene action as a protection factor against 4-nitroquinoline 1-oxide-induced tongue carcinogenesis. (11285190)
2001
44
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
45
Delay of DNA-adduct repair and severe toxicity in xeroderma pigmentosum group A gene (XPA) deficient mice treated with 2-amino-1-methyl-6-phenyl-imidazo [4,5-b] pyridine (PhIP). (10755388)
2000
46
Possible involvement of enhanced prostaglandin E2 production in the photosensitivity in xeroderma pigmentosum group A model mice. (10651981)
2000
47
Repair of oxidative DNA base lesions induced by fluorescent light is defective in xeroderma pigmentosum group A cells. (10454612)
1999
48
Functional studies on the interaction between human replication protein A and Xeroderma pigmentosum group A complementing protein (XPA). (10340474)
1999
49
Oxidative damage-induced PCNA complex formation is efficient in xeroderma pigmentosum group A but reduced in Cockayne syndrome group B cells. (10536158)
1999
50
Partial functional correction of xeroderma pigmentosum group A cells by suppressor tRNA. (10498252)
1999

Variations for Xeroderma Pigmentosum, Group a

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

70
id Symbol AA change Variation ID SNP ID
1XPAp.Pro94LeuVAR_007727
2XPAp.Cys108PheVAR_007728rs104894131
3XPAp.Arg130LysVAR_007729
4XPAp.Gln185HisVAR_007730rs746617574
5XPAp.His244ArgVAR_007731rs144725456

Clinvar genetic disease variations for Xeroderma Pigmentosum, Group a:

5 (show all 11)
id Gene Variation Type Significance SNP ID Assembly Location
1XPANM_000380.3(XPA): c.545_546insTA (p.Leu182Phefs)insertionPathogenicrs786205205GRCh37Chr 9, 100449387: 100449388
2XPCNM_004628.4(XPC): c.2034-1G> ASNVLikely pathogenicrs869025275GRCh38Chr 3, 14152417: 14152417
3XPANM_000380.3(XPA): c.335_338delTTATinsCATAAGAAA (p.Phe112Serfs)indelPathogenicrs886039226GRCh37Chr 9, 100451867: 100451870
4XPANM_000380.3(XPA): c.390-1G> CSNVPathogenicrs750218942GRCh37Chr 9, 100449544: 100449544
5XPAXPA, IVS3AS, G-CSNVPathogenicChr na, -1: -1
6XPANM_000380.3(XPA): c.323G> T (p.Cys108Phe)SNVPathogenicrs104894131GRCh37Chr 9, 100451882: 100451882
7XPAXPA, 5-BP DELdeletionPathogenicChr na, -1: -1
8XPANM_000380.3(XPA): c.682C> T (p.Arg228Ter)SNVPathogenicrs104894132GRCh37Chr 9, 100437861: 100437861
9XPANM_000380.3(XPA): c.619C> T (p.Arg207Ter)SNVPathogenicrs104894133GRCh37Chr 9, 100447259: 100447259
10XPANM_000380.3(XPA): c.348T> A (p.Tyr116Ter)SNVPathogenicrs104894134GRCh37Chr 9, 100451857: 100451857
11XPAXPA, IVS1DS, T-G, +2SNVPathogenicChr na, -1: -1

Expression for genes affiliated with Xeroderma Pigmentosum, Group a

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

Pathways for genes affiliated with Xeroderma Pigmentosum, Group a

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

(show all 12)
idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.4PCNA, XPC
29.4ERCC4, XPA
39.1PCNA, RPA1
4
Show member pathways
9.1PCNA, RPA1
5
Show member pathways
9.0ERCC4, RPA1
6
Show member pathways
8.6PCNA, RPA1, XPC
7
Show member pathways
8.5ERCC4, PCNA, RPA1
8
Show member pathways
8.4ERCC4, PCNA, XPA, XPC
97.5ERCC4, PCNA, RPA1, XPA, XPC
10
Show member pathways
7.5ERCC4, PCNA, RPA1, XPA, XPC
11
Show member pathways
7.5ERCC4, PCNA, RPA1, XPA, XPC
12
Show member pathways
7.5ERCC4, PCNA, RPA1, XPA, XPC

GO Terms for genes affiliated with Xeroderma Pigmentosum, Group a

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

idNameGO IDScoreTop Affiliating Genes
1DNA replication factor A complexGO:000566210.0RPA1, XPA
2nucleotide-excision repair factor 1 complexGO:00001109.4ERCC4, XPA
3nuclear chromosome, telomeric regionGO:00007849.3ERCC4, PCNA, RPA1
4nucleoplasmGO:00056547.5ERCC4, PCNA, RPA1, XPA, XPC

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

(show all 30)
idNameGO IDScoreTop Affiliating Genes
1nucleotide-excision repair, DNA damage recognitionGO:000071510.2XPA, XPC
2nucleotide-excision repair, DNA duplex unwindingGO:000071710.2XPA, XPC
3response to auditory stimulusGO:001099610.1XPA, XPC
4response to oxidative stressGO:000697910.1PCNA, XPA
5nucleotide-excision repair involved in interstrand cross-link repairGO:190125510.1ERCC4, XPA
6cellular response to UVGO:003464410.1ERCC4, PCNA
7response to UVGO:000941110.0ERCC4, XPA
8base-excision repairGO:00062849.9RPA1, XPA
9DNA damage response, detection of DNA damageGO:00427699.9PCNA, RPA1
10error-free translesion synthesisGO:00709879.8PCNA, RPA1
11error-prone translesion synthesisGO:00422769.8PCNA, RPA1
12G1/S transition of mitotic cell cycleGO:00000829.8PCNA, RPA1
13nucleotide-excision repair, DNA gap fillingGO:00062979.8PCNA, RPA1
14double-strand break repair via homologous recombinationGO:00007249.7ERCC4, RPA1
15interstrand cross-link repairGO:00362979.7ERCC4, RPA1
16telomere maintenance via recombinationGO:00007229.7PCNA, RPA1
17global genome nucleotide-excision repairGO:00709119.6ERCC4, XPA, XPC
18UV-damage excision repairGO:00709149.5XPA, XPC
19translesion synthesisGO:00199859.4PCNA, RPA1
20nucleotide-excision repair, preincision complex assemblyGO:00062949.3RPA1, XPA, XPC
21mismatch repairGO:00062989.3PCNA, RPA1, XPC
22protein sumoylationGO:00169259.2PCNA, RPA1, XPC
23nucleotide-excision repair, DNA incision, 3-to lesionGO:00062959.2ERCC4, RPA1, XPA
24nucleotide-excision repair, preincision complex stabilizationGO:00062939.2ERCC4, RPA1, XPA
25telomere maintenanceGO:00007239.1ERCC4, PCNA, RPA1
26DNA repairGO:00062818.8ERCC4, RPA1, XPA, XPC
27nucleotide-excision repairGO:00062898.7ERCC4, RPA1, XPA, XPC
28nucleotide-excision repair, DNA incisionGO:00336838.7ERCC4, PCNA, RPA1, XPA
29nucleotide-excision repair, DNA incision, 5-to lesionGO:00062968.7ERCC4, PCNA, RPA1, XPA
30transcription-coupled nucleotide-excision repairGO:00062838.5ERCC4, PCNA, RPA1, XPA

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

idNameGO IDScoreTop Affiliating Genes
1single-stranded DNA bindingGO:00036978.5ERCC4, RPA1, XPC
2damaged DNA bindingGO:00036848.1ERCC4, PCNA, RPA1, XPA, XPC

Sources for Xeroderma Pigmentosum, Group a

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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