MCID: XRD018
MIFTS: 46

Xeroderma Pigmentosum, Group a malady

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

Summaries for Xeroderma Pigmentosum, Group a

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OMIM:45 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, type 1, is related to ataxia-telangiectasia 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 Chks in Checkpoint Regulation and DNA Repair. The compounds hydroxyurea and peroxynitrite have been mentioned in the context of this disorder. Affiliated tissues include skin, tongue and brain, and related mouse phenotypes are integument and skeleton.

Aliases & Classifications for Xeroderma Pigmentosum, Group a

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Sources:
45OMIM, 10diseasecard, 60UMLS, 41NIH Rare Diseases, 22GTR, 47Orphanet, 26ICD10 via Orphanet
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Xeroderma Pigmentosum, Group a, Aliases & Descriptions:

Name: Xeroderma Pigmentosum, Group a 45 10 60
Xeroderma Pigmentosum, Type 1 41 22
Xeroderma Pigmentosum, Complementation Group a 45
 
Xeroderma Pigmentosum Complementation Group a 47
Xpa 47


Classifications:



Characteristics (Orphanet epidemiological data):

47
xeroderma pigmentosum complementation group a:
Inheritance: Autosomal recessive; Age of onset: All ages


External Ids:

OMIM45 278700
Orphanet47 276249
ICD10 via Orphanet26 Q82.1

Related Diseases for Xeroderma Pigmentosum, Group a

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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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Drug clinical trials:

Search ClinicalTrials for Xeroderma Pigmentosum, Group a

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 122

Anatomical Context for Xeroderma Pigmentosum, Group a

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

31
Skin, Tongue, Brain, Liver, Lung, B cells

Animal Models for Xeroderma Pigmentosum, Group a or affiliated genes

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MGI Mouse Phenotypes related to Xeroderma Pigmentosum, Group a:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107719.0XPA, RECQL4, TPH1
2MP:00053908.7XPA, RECQL4, TPH1
3MP:00053918.6XPA, RECQL4, CPOX

Publications for Xeroderma Pigmentosum, Group a

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Articles related to Xeroderma Pigmentosum, Group a:

(show top 50)    (show all 67)
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
A novel XPA gene mutation and its functional analysis in a Japanese patient with xeroderma pigmentosum group A. (16098033)
2005
19
The photocarcinogenesis of antibiotic lomefloxacin and UVA radiation is enhanced in xeroderma pigmentosum group A gene-deficient mice. (16117798)
2005
20
Oxidative nucleotide damage and superoxide dismutase expression in the brains of xeroderma pigmentosum group A and Cockayne syndrome. (15626539)
2005
21
DNA-based prenatal diagnosis in a Chinese family with xeroderma pigmentosum group A. (15214909)
2004
22
Brainstem and basal ganglia lesions in xeroderma pigmentosum group A. (15535132)
2004
23
p53 haploinsufficiency profoundly accelerates the onset of tongue tumors in mice lacking the xeroderma pigmentosum group A gene. (14578172)
2003
24
Xeroderma pigmentosum group A protein loads as a separate factor onto DNA lesions. (12897146)
2003
25
Xeroderma pigmentosum group a protein and chemotherapy resistance in human germ cell tumors. (14563950)
2003
26
Functional studies on the interaction between human replication protein A and Xeroderma pigmentosum group A complementing protein (XPA). (11911469)
2002
27
Polymorphisms of the DNA repair gene xeroderma pigmentosum group A and risk of primary lung cancer. (12376498)
2002
28
Enhanced spontaneous and aflatoxin-induced liver tumorigenesis in xeroderma pigmentosum group A gene-deficient mice. (11960916)
2002
29
Complementation of the DNA repair deficiency in human xeroderma pigmentosum group a and C cells by recombinant adenovirus-mediated gene transfer. (12396616)
2002
30
Polymorphisms in the human xeroderma pigmentosum group A gene and their impact on cell survival and nucleotide excision repair. (12509227)
2002
31
UV-induced skin carcinogenesis in xeroderma pigmentosum group A (XPA) gene-knockout mice with nucleotide excision repair-deficiency. (11376684)
2001
32
Early postnatal ataxia and abnormal cerebellar development in mice lacking Xeroderma pigmentosum Group A and Cockayne syndrome Group B DNA repair genes. (11687625)
2001
33
Xeroderma pigmentosum group A gene action as a protection factor against 4-nitroquinoline 1-oxide-induced tongue carcinogenesis. (11285190)
2001
34
Carcinogen-induced inflammation and immunosuppression are enhanced in xeroderma pigmentosum group A model mice associated with hyperproduction of prostaglandin E2. (11313422)
2001
35
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
36
Possible involvement of enhanced prostaglandin E2 production in the photosensitivity in xeroderma pigmentosum group A model mice. (10651981)
2000
37
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
38
Partial functional correction of xeroderma pigmentosum group A cells by suppressor tRNA. (10498252)
1999
39
Ultraviolet radiation-induced suppression of natural killer cell activity is enhanced in xeroderma pigmentosum group A (XPA) model mice. (10383746)
1999
40
Repair of oxidative DNA base lesions induced by fluorescent light is defective in xeroderma pigmentosum group A cells. (10454612)
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:

62
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:

6
id Gene Variation Type Significance SNP ID Assembly Location
1XPAXPA, IVS3AS, G-Csingle nucleotide variantPathogenic
2XPANM_000380.3(XPA): c.323G> T (p.Cys108Phe)single nucleotide variantPathogenicrs104894131GRCh37Chr 9, 100451882: 100451882
3XPAXPA, 5-BP DELdeletionPathogenic
4XPANM_000380.3(XPA): c.682C> T (p.Arg228Ter)single nucleotide variantPathogenicrs104894132GRCh37Chr 9, 100437861: 100437861
5XPANM_000380.3(XPA): c.619C> T (p.Arg207Ter)single nucleotide variantPathogenicrs104894133GRCh37Chr 9, 100447259: 100447259
6XPANM_000380.3(XPA): c.348T> A (p.Tyr116Ter)single nucleotide variantPathogenicrs104894134GRCh37Chr 9, 100451857: 100451857
7XPAXPA, 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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Compounds for genes affiliated with Xeroderma Pigmentosum, Group a

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Sources:
43Novoseek, 49PharmGKB, 12DrugBank, 24HMDB
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Compounds related to Xeroderma Pigmentosum, Group a according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1hydroxyurea43 49 1211.3RPA2, RECQL4
2peroxynitrite439.2CPOX, TPH1
3ethanol43 49 24 1212.1CPOX, TPH1
4choline43 24 1210.8CPOX, TPH1
5h2o2438.7RECQL4, CPOX, TPH1
6glutamate438.6TPH1, CPOX, XPA

GO Terms for genes affiliated with Xeroderma Pigmentosum, Group a

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

idNameGO IDScoreTop Affiliating Genes
1nucleotide-excision repair, DNA damage removalGO:00007189.4XPA, RPA2
2DNA replicationGO:00062609.3RPA2, RECQL4
3nucleotide-excision repairGO:00062899.1XPA, RPA2
4DNA repairGO:00062818.8XPA, RPA2, RECQL4

Products for genes affiliated with Xeroderma Pigmentosum, Group a

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Sources for Xeroderma Pigmentosum, Group a

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet