MCID: XRD018
MIFTS: 49

Xeroderma Pigmentosum, Group a malady

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

Aliases & Classifications for Xeroderma Pigmentosum, Group a

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Sources:
49OMIM, 11diseasecard, 65UMLS, 45NIH Rare Diseases, 24GTR, 67UniProtKB/Swiss-Prot, 51Orphanet, 28ICD10 via Orphanet, 34MedGen, 36MeSH
See all sources

Aliases & Descriptions for Xeroderma Pigmentosum, Group a:

Name: Xeroderma Pigmentosum, Group a 49 11 65
Xeroderma Pigmentosum Complementation Group a 51 67
Xeroderma Pigmentosum, Type 1 45 24
Xeroderma Pigmentosum I 67
 
Xp Group a 67
Xp-a 67
Xp1 67
Xpa 51


Classifications:



Characteristics (Orphanet epidemiological data):

51
xeroderma pigmentosum complementation group a:
Inheritance: Autosomal recessive; Age of onset: All ages


External Ids:

OMIM49 278700
Orphanet51 276249
ICD10 via Orphanet28 Q82.1
MedGen34 CN068460
MeSH36 D014983

Summaries for Xeroderma Pigmentosum, Group a

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OMIM:49 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 complementation group a, is related to xeroderma pigmentosum, group c and xeroderma pigmentosum, variant type, and has symptoms including autosomal recessive inheritance, microcephaly and sensorineural hearing impairment. An important gene associated with Xeroderma Pigmentosum, Group a is XPA (Xeroderma Pigmentosum, Complementation Group A), and among its related pathways are Transcription_P53 signaling pathway and DNA damage_Role of Brca1 and Brca2 in DNA repair. Affiliated tissues include skin, tongue and b cells, and related mouse phenotype mortality/aging.

UniProtKB/Swiss-Prot:67 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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Diseases in the Xeroderma Pigmentosum, Group B family:

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 a via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 40)
idRelated DiseaseScoreTop Affiliating Genes
1xeroderma pigmentosum, group c30.0XPA, XPC
2xeroderma pigmentosum, variant type29.2ERCC4, RPA1, XPA, XPC
3cockayne syndrome10.6
4ataxia10.5
5lung cancer10.3
6ataxia-telangiectasia10.3
7progeria10.3
8neuronitis10.3
9basal cell carcinoma10.3
10dystonia10.3
11esophagitis10.3
12laryngitis10.3
13neurologic diseases10.3
14dysautonomia10.3
15xpa-related xeroderma pigmentosum10.3
16colorectal cancer10.2
17adenocarcinoma10.2
18ovarian cancer10.2
19xeroderma pigmentosum, type 910.1
20prostate cancer10.0
21xeroderma pigmentosum, group b10.0
22esophageal cancer10.0
23xeroderma pigmentosum, group g10.0
24xeroderma pigmentosum, group f10.0
25b-cell lymphomas10.0
26leukemia10.0
27hereditary sensory neuropathy10.0
28lymphoblastic leukemia10.0
29neuropathy10.0
30prostatitis10.0
31retinitis pigmentosa10.0
32congenital stationary night blindness10.0
33retinitis10.0
34mutiple parosteal osteochondromatous proliferations10.0XPA, XPC
35skin glomangioma10.0XPA, XPC
36b cell deficiency9.9ERCC4, XPA
37cerebrooculofacioskeletal syndrome 29.8ERCC4, XPA
38clitoris cancer9.8ERCC4, XPA
39benign breast phyllodes tumor9.8ERCC4, XPA, XPC
40xeroderma pigmentosum, group a9.2ERCC4, PCNA, RPA1, XPA, XPC

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



Diseases related to xeroderma pigmentosum, group a

Symptoms for Xeroderma Pigmentosum, Group a

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Symptoms by clinical synopsis from OMIM:

278700

Clinical features from OMIM:

278700

HPO human phenotypes related to Xeroderma Pigmentosum, Group a:

(show all 19)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 microcephaly HP:0000252
3 sensorineural hearing impairment HP:0000407
4 keratitis HP:0000491
5 conjunctivitis HP:0000509
6 photophobia HP:0000613
7 entropion HP:0000621
8 ectropion HP:0000656
9 cutaneous photosensitivity HP:0000992
10 telangiectasia HP:0001009
11 poikiloderma HP:0001029
12 intellectual disability HP:0001249
13 ataxia HP:0001251
14 spasticity HP:0001257
15 hyporeflexia HP:0001265
16 choreoathetosis HP:0001266
17 mental deterioration HP:0001268
18 defective dna repair after ultraviolet radiation damage HP:0003079
19 dermal atrophy HP:0004334

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):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
LenalidomideapprovedPhase 2652191732-72-6216326
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

Interventional clinical trials:

idNameStatusNCT IDPhase
1T4N5 Liposome Lotion Compared With Placebo Lotion for Preventing Actinic Keratoses in Patients With Xeroderma PigmentosumActive, not recruitingNCT00002811Phase 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 124

Anatomical Context for Xeroderma Pigmentosum, Group a

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

33
Skin, Tongue, B cells, Lung, Brain, Liver, Eye

Animal Models for Xeroderma Pigmentosum, Group a or affiliated genes

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MGI Mouse Phenotypes related to Xeroderma Pigmentosum, Group a:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107687.2ERCC4, PCNA, RPA1, XPA, XPC

Publications for Xeroderma Pigmentosum, Group a

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Articles related to Xeroderma Pigmentosum, Group a:

(show top 50)    (show all 68)
idTitleAuthorsYear
1
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
2
Mutational spectrum of Xeroderma pigmentosum group A in Egyptian patients. (24135642)
2014
3
Lesions of cortical GABAergic interneurons and acetylcholine neurons in xeroderma pigmentosum group A. (21782366)
2012
4
Nucleotide excision repair by mutant xeroderma pigmentosum group A (XPA) proteins with deficiency in interaction with RPA. (21148310)
2011
5
XPA gene mutations resulting in subtle truncation of protein in xeroderma pigmentosum group A patients with mild skin symptoms. (20574439)
2010
6
Low-dose levodopa is effective for laryngeal dystonia in xeroderma pigmentosum group A. (19819090)
2010
7
Localization of xeroderma pigmentosum group A protein and replication protein A on damaged DNA in nucleotide excision repair. (20693538)
2010
8
Melanocyte-stimulating hormone directly enhances UV-Induced DNA repair in keratinocytes by a xeroderma pigmentosum group A-dependent mechanism. (20388774)
2010
9
Checkpoint kinase ATR promotes nucleotide excision repair of UV-induced DNA damage via physical interaction with xeroderma pigmentosum group A. (19586908)
2009
10
Impaired spermatogenesis and elevated spontaneous tumorigenesis in xeroderma pigmentosum group A gene (Xpa)-deficient mice. (18790090)
2008
11
Involvement of xeroderma pigmentosum group A (XPA) in progeria arising from defective maturation of prelamin A. (17848622)
2008
12
Oxidative damage induced genotoxic effects in human fibroblasts from Xeroderma Pigmentosum group A patients. (18585952)
2008
13
RecQ4 facilitates UV light-induced DNA damage repair through interaction with nucleotide excision repair factor xeroderma pigmentosum group A (XPA). (18693251)
2008
14
Mouse models for xeroderma pigmentosum group A and group C show divergent cancer phenotypes. (18316597)
2008
15
High-mobility group A1 proteins inhibit expression of nucleotide excision repair factor xeroderma pigmentosum group A. (17616660)
2007
16
Recognition of helical kinks by xeroderma pigmentosum group A protein triggers DNA excision repair. (16491090)
2006
17
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
18
The photocarcinogenesis of antibiotic lomefloxacin and UVA radiation is enhanced in xeroderma pigmentosum group A gene-deficient mice. (16117798)
2005
19
Oxidative nucleotide damage and superoxide dismutase expression in the brains of xeroderma pigmentosum group A and Cockayne syndrome. (15626539)
2005
20
DNA-based prenatal diagnosis in a Chinese family with xeroderma pigmentosum group A. (15214909)
2004
21
Brainstem and basal ganglia lesions in xeroderma pigmentosum group A. (15535132)
2004
22
p53 haploinsufficiency profoundly accelerates the onset of tongue tumors in mice lacking the xeroderma pigmentosum group A gene. (14578172)
2003
23
Xeroderma pigmentosum group A protein loads as a separate factor onto DNA lesions. (12897146)
2003
24
Xeroderma pigmentosum group a protein and chemotherapy resistance in human germ cell tumors. (14563950)
2003
25
Functional studies on the interaction between human replication protein A and Xeroderma pigmentosum group A complementing protein (XPA). (11911469)
2002
26
Polymorphisms of the DNA repair gene xeroderma pigmentosum group A and risk of primary lung cancer. (12376498)
2002
27
Enhanced spontaneous and aflatoxin-induced liver tumorigenesis in xeroderma pigmentosum group A gene-deficient mice. (11960916)
2002
28
Complementation of the DNA repair deficiency in human xeroderma pigmentosum group a and C cells by recombinant adenovirus-mediated gene transfer. (12396616)
2002
29
Polymorphisms in the human xeroderma pigmentosum group A gene and their impact on cell survival and nucleotide excision repair. (12509227)
2002
30
UV-induced skin carcinogenesis in xeroderma pigmentosum group A (XPA) gene-knockout mice with nucleotide excision repair-deficiency. (11376684)
2001
31
Early postnatal ataxia and abnormal cerebellar development in mice lacking Xeroderma pigmentosum Group A and Cockayne syndrome Group B DNA repair genes. (11687625)
2001
32
Xeroderma pigmentosum group A gene action as a protection factor against 4-nitroquinoline 1-oxide-induced tongue carcinogenesis. (11285190)
2001
33
Carcinogen-induced inflammation and immunosuppression are enhanced in xeroderma pigmentosum group A model mice associated with hyperproduction of prostaglandin E2. (11313422)
2001
34
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
35
Possible involvement of enhanced prostaglandin E2 production in the photosensitivity in xeroderma pigmentosum group A model mice. (10651981)
2000
36
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
37
Partial functional correction of xeroderma pigmentosum group A cells by suppressor tRNA. (10498252)
1999
38
Ultraviolet radiation-induced suppression of natural killer cell activity is enhanced in xeroderma pigmentosum group A (XPA) model mice. (10383746)
1999
39
Repair of oxidative DNA base lesions induced by fluorescent light is defective in xeroderma pigmentosum group A cells. (10454612)
1999
40
Functional studies on the interaction between human replication protein A and Xeroderma pigmentosum group A complementing protein (XPA). (10340474)
1999
41
Distribution of mutations in the human Xeroderma pigmentosum group A gene and their relationships to the functional regions of the DNA damage recognition protein. (9671271)
1998
42
Mutational analysis of a function of xeroderma pigmentosum group A (XPA) protein in strand-specific DNA repair. (9753735)
1998
43
Effect of XPA gene mutations on UV-induced immunostaining of PCNA in fibroblasts from xeroderma pigmentosum group A patients. (8814338)
1996
44
Preferential DNA damage in the p53 gene by benzo[a]pyrene metabolites in cytochrome P4501A1-expressing xeroderma pigmentosum group A cells. (8634092)
1996
45
Splice site mutations in a xeroderma pigmentosum group A patient with delayed onset of neurological disease. (8765158)
1996
46
Correlation of the clinical manifestations and gene mutations of Japanese xeroderma pigmentosum group A patients. (7577588)
1995
47
Molecular analysis of Xeroderma pigmentosum group A gene. (8504220)
1993
48
Preferential binding of the xeroderma pigmentosum group A complementing protein to damaged DNA. (8218288)
1993
49
Yeast RAD14 and human xeroderma pigmentosum group A DNA-repair genes encode homologous proteins. (1741034)
1992
50
Two types of proliferating cell nuclear antigen (PCNA) complex formation in quiescent normal and xeroderma pigmentosum group A fibroblasts following ultraviolet light (uv) irradiation. (1353458)
1992

Variations for Xeroderma Pigmentosum, Group a

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

67
id Symbol AA change Variation ID SNP ID
1XPAp.Pro94LeuVAR_007727
2XPAp.Cys108PheVAR_007728
3XPAp.Arg130LysVAR_007729
4XPAp.Gln185HisVAR_007730
5XPAp.His244ArgVAR_007731

Clinvar genetic disease variations for Xeroderma Pigmentosum, Group a:

5
id Gene Variation Type Significance SNP ID Assembly Location
1XPANM_000380.3(XPA): c.545_546insTA (p.Leu182Phefs)insertionPathogenicrs786205205GRCh37Chr 9, 100449387: 100449388
2XPAXPA, IVS3AS, G-Csingle nucleotide variantPathogenic
3XPANM_000380.3(XPA): c.323G> T (p.Cys108Phe)single nucleotide variantPathogenicrs104894131GRCh37Chr 9, 100451882: 100451882
4XPAXPA, 5-BP DELdeletionPathogenic
5XPANM_000380.3(XPA): c.682C> T (p.Arg228Ter)single nucleotide variantPathogenicrs104894132GRCh37Chr 9, 100437861: 100437861
6XPANM_000380.3(XPA): c.619C> T (p.Arg207Ter)single nucleotide variantPathogenicrs104894133GRCh37Chr 9, 100447259: 100447259
7XPANM_000380.3(XPA): c.348T> A (p.Tyr116Ter)single nucleotide variantPathogenicrs104894134GRCh37Chr 9, 100451857: 100451857
8XPAXPA, IVS1DS, T-G, +2single nucleotide variantPathogenic

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 13)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5XPA, XPC
29.4PCNA, XPC
39.4ERCC4, XPA
4
Show member pathways
9.1PCNA, RPA1
59.1PCNA, RPA1
6
Show member pathways
9.0ERCC4, RPA1
7
Show member pathways
8.5ERCC4, PCNA, RPA1
8
Show member pathways
8.5ERCC4, PCNA, RPA1
9
Show member pathways
8.4ERCC4, PCNA, XPA, XPC
107.5ERCC4, PCNA, RPA1, XPA, XPC
11
Show member pathways
7.5ERCC4, PCNA, RPA1, XPA, XPC
12
Show member pathways
7.5ERCC4, PCNA, RPA1, XPA, XPC
13
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:00056629.7RPA1, XPA
2nuclear chromosome, telomeric regionGO:00007848.9ERCC4, PCNA, RPA1
3nucleoplasmGO:00056547.5ERCC4, PCNA, RPA1, XPA, XPC

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

(show all 25)
idNameGO IDScoreTop Affiliating Genes
1response to auditory stimulusGO:001099610.0XPA, XPC
2cellular response to UVGO:00346449.7ERCC4, PCNA
3error-prone translesion synthesisGO:00422769.7PCNA, RPA1
4error-free translesion synthesisGO:00709879.7PCNA, RPA1
5nucleotide-excision repair, DNA gap fillingGO:00062979.7PCNA, RPA1
6protein sumoylationGO:00169259.6RPA1, XPC
7telomere maintenance via recombinationGO:00007229.4PCNA, RPA1
8interstrand cross-link repairGO:00362979.4ERCC4, RPA1
9DNA strand elongation involved in DNA replicationGO:00062719.4PCNA, RPA1
10base-excision repairGO:00062849.3PCNA, RPA1
11response to UVGO:00094119.3ERCC4, XPA
12double-strand break repair via homologous recombinationGO:00007249.3ERCC4, RPA1
13telomere maintenance via semi-conservative replicationGO:00322019.2PCNA, RPA1
14G1/S transition of mitotic cell cycleGO:00000829.2PCNA, RPA1
15mismatch repairGO:00062989.2PCNA, RPA1, XPC
16double-strand break repairGO:00063029.2ERCC4, RPA1
17DNA damage response, detection of DNA damageGO:00427699.1PCNA, RPA1
18translesion synthesisGO:00199858.8PCNA, RPA1
19telomere maintenanceGO:00007238.8ERCC4, PCNA, RPA1
20transcription-coupled nucleotide-excision repairGO:00062838.5ERCC4, PCNA, RPA1, XPA
21nucleotide-excision repair, DNA damage removalGO:00007188.4ERCC4, RPA1, XPA, XPC
22nucleotide-excision repair, DNA incisionGO:00336838.3ERCC4, PCNA, RPA1, XPA
23nucleotide-excision repairGO:00062897.8ERCC4, PCNA, RPA1, XPA, XPC
24global genome nucleotide-excision repairGO:00709117.8ERCC4, PCNA, RPA1, XPA, XPC
25DNA repairGO:00062817.5ERCC4, PCNA, RPA1, XPA, XPC

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

idNameGO IDScoreTop Affiliating Genes
1single-stranded DNA bindingGO:00036978.8ERCC4, RPA1, XPC
2DNA bindingGO:00036778.0ERCC4, PCNA, RPA1, XPC
3damaged DNA bindingGO:00036847.7ERCC4, PCNA, RPA1, XPA, XPC

Sources for Xeroderma Pigmentosum, Group a

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet