XP
MCID: XRD018
MIFTS: 57

Xeroderma Pigmentosum, Group a (XP) malady

Genetic diseases, Neuronal diseases, Skin diseases, Fetal diseases, Cancer diseases, Rare diseases, Eye diseases, Ear diseases categories
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Summaries for Xeroderma Pigmentosum, Group a

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47OMIM, 33MalaCards
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MalaCards: Xeroderma Pigmentosum, Group a, also known as xeroderma pigmentosum, is related to xeroderma pigmentosum and ataxia telangiectasia, and has symptoms including cryptophthalmia/ankyloblepharon/synblepharon, neoplasms/tumors and capillary hemangioma/nevus/naevus flammeus/port-wine stain. 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, testes and tongue, and related mouse phenotypes are integument and skeleton.

Description from OMIM:47 278700, 194400, 278720, 278730, 278740 278750, 278760, 278780, 610651 more

Aliases & Classifications for Xeroderma Pigmentosum, Group a

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49Orphanet, 47OMIM, 59SNOMED-CT via Orphanet, 26ICD10 via Orphanet, 36MESH via Orphanet, 63UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

49
xeroderma pigmentosum complementation group a:
Inheritance: Autosomal recessive; Age of onset: Variable
xeroderma pigmentosum:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000; Age of onset: Variable; Age of death: Adult


Aliases & Descriptions:

xeroderma pigmentosum, group a 47
xeroderma pigmentosum 49 47
xeroderma pigmentosum complementation group a 49
xpa 49
xp 49


External Ids:

SNOMED-CT via Orphanet59 43477006, 44600005
ICD10 via Orphanet26 Q82.1
MESH via Orphanet36 D014983
UMLS via Orphanet63 C0043346

Related Diseases for Xeroderma Pigmentosum, Group a

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17GeneCards, 18GeneDecks
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Diseases in the Xeroderma Pigmentosum, Group a family:

Xeroderma Pigmentosum, Group B Xeroderma Pigmentosum, Group C
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/GeneDecks gene sharing:

(show top 50)    (show all 133)
idRelated DiseaseScoreTop Affiliating Genes
1xeroderma pigmentosum31.8RPA2, XPA
2ataxia telangiectasia30.5XPA, RPA2
3xeroderma pigmentosum, group c11.1
4xeroderma pigmentosum, group d10.9
5xeroderma pigmentosum, group g10.8
6melanoma10.8
7xeroderma pigmentosum, variant type10.8
8xeroderma pigmentosum, group f10.7
9xeroderma pigmentosum, group b10.7
10angiosarcoma10.6
11xeroderma pigmentosum type 710.6
12cockayne syndrome10.6
13fanconi's anemia10.5
14xeroderma pigmentosum, group e, ddb-negative subtype10.5
15breast cancer10.5
16herpes simplex10.5
17ovarian cancer10.5
18prostate cancer10.5
19prostatitis10.5
20ataxia10.5
21chromosome xp deletion10.5
22adenocarcinoma10.4
23cockayne syndrome type i10.4
24xeroderma pigmentosum, type 110.4
25xeroderma pigmentosum, type 910.4
26xpc-related xeroderma pigmentosum10.4
27ercc1-related xeroderma pigmentosum10.4
28xeroderma pigmentosum, group g/cockayne syndrome10.4
29bloom syndrome10.3
30lung adenocarcinoma10.3
31pterygium10.3
32uv sensitive syndrome10.3
33xeroderma pigmentosum, type 210.3
34xeroderma pigmentosum, type 310.3
35xeroderma pigmentosum, type 510.3
36xeroderma pigmentosum, type 610.3
37xpa-related xeroderma pigmentosum10.3
38ercc3-related xeroderma pigmentosum10.3
39ercc2-related xeroderma pigmentosum10.3
40ddb2-related xeroderma pigmentosum10.3
41ercc4-related xeroderma pigmentosum10.3
42ercc5-related xeroderma pigmentosum10.3
43polh-related xeroderma pigmentosum10.3
44xeroderma pigmentosum, type f/cockayne syndrome10.3
45nevoid basal cell carcinoma syndrome10.3
46neuronitis10.3
47progeria10.3
48basal cell carcinoma10.3
49dystonia10.3
50esophagitis10.3

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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47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

194400

Clinical features from OMIM:

278700,194400,278720,278730,278740,278750,278760,278780,610651

Symptoms:

49 (show all 60)
  • cryptophthalmia/ankyloblepharon/synblepharon
  • neoplasms/tumors
  • capillary hemangioma/nevus/naevus flammeus/port-wine stain
  • conjunctival telangiectasia
  • small/atrophic/hypoplastic testes/monorchism/microorchidism/anorchia
  • anomalies of eyelids, eyelashes and lacrimal system
  • areflexia/hyporeflexia
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • irregular/patchy skin hypopigmentation
  • thick skin/pachydermia/orange skin
  • strabismus/squint
  • skin hypoplasia/aplasia/atrophy
  • chronic uveitis/blepharitis/episcleritis/scleritis/conjonctivitis/keratitis
  • alopecia
  • pigmented naevi/naevus pigmentosus/lentigo
  • oral cavity/tongue neoplasm/tumor/carcinoma/cancer
  • telangiectasic erythema/poikiloderma
  • pterygion
  • ectropion/entropion/eyelid eversion
  • blepharitis/eyelid inflammation
  • melanoma
  • skin/cutaneous neoplasm/tumor/carcinoma/cancer (excluding melanoma)
  • eye neoplasm/tumor/carcinoma/cancer
  • excessive freckling
  • extrapyramidal syndrome
  • thin skin
  • peripheral neuropathy
  • optic nerve anomaly/optic atrophy/anomaly of the papilla
  • anomalies of teeth and dentition
  • delayed bone age
  • hearing loss/hypoacusia/deafness
  • cataract/lens opacification
  • corneal clouding/opacity/vascularisation
  • dense/thickened skull/calvarium/cranial/facial hyperostosis
  • psychic/psychomotor regression/dementia/intellectual decline
  • ataxia/incoordination/trouble of the equilibrium
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • seizures/epilepsy/absences/spasms/status epilepticus
  • hypertonia/spasticity/rigidity/stiffness
  • eeg anomalies
  • cortical atrophy without hydrocephaly/cerebral hemiatrophy/subcortical atrophy
  • sensorineural deafness/hearing loss
  • short stature/dwarfism/nanism
  • warts/papillomas
  • skin photosensitivity
  • telangiectasiae of the skin
  • irregular/in bands/reticular skin hyperpigmentation
  • macules
  • erythema/erythematous lesions/erythroderma/polymorphous erythema
  • dry/squaly skin/exfoliation
  • hyperkeratosis/ainhum/hyperkeratotic skin fissures
  • articular/joint pain/arthralgia
  • fever/chilling
  • asthenia/fatigue/weakness
  • aminoacid metabolism anomalies/aminoaciduria
  • late puberty/hypogonadism/hypogenitalism
  • photophobia
  • microcephaly
  • autosomal recessive inheritance

Drugs & Therapeutics for Xeroderma Pigmentosum, Group a

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42NIH Clinical Center, 6ClinicalTrials
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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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Anatomical Context for Xeroderma Pigmentosum, Group a

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33MalaCards
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MalaCards organs/tissues related to Xeroderma Pigmentosum, Group a:

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

Animal Models for Xeroderma Pigmentosum, Group a or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Xeroderma Pigmentosum, Group a:

37
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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52PubMed
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Articles related to Xeroderma Pigmentosum, Group a:

(show top 50)    (show all 67)
idTitleAuthorsYear
1
Mutational spectrum of Xeroderma pigmentosum group A in Egyptian patients. (24135642)
2014
2
Lesions of cortical GABAergic interneurons and acetylcholine neurons in xeroderma pigmentosum group A. (21782366)
2012
3
Nucleotide excision repair by mutant xeroderma pigmentosum group A (XPA) proteins with deficiency in interaction with RPA. (21148310)
2011
4
XPA gene mutations resulting in subtle truncation of protein in xeroderma pigmentosum group A patients with mild skin symptoms. (20574439)
2010
5
Low-dose levodopa is effective for laryngeal dystonia in xeroderma pigmentosum group A. (19819090)
2010
6
Localization of xeroderma pigmentosum group A protein and replication protein A on damaged DNA in nucleotide excision repair. (20693538)
2010
7
Melanocyte-stimulating hormone directly enhances UV-Induced DNA repair in keratinocytes by a xeroderma pigmentosum group A-dependent mechanism. (20388774)
2010
8
Checkpoint kinase ATR promotes nucleotide excision repair of UV-induced DNA damage via physical interaction with xeroderma pigmentosum group A. (19586908)
2009
9
Impaired spermatogenesis and elevated spontaneous tumorigenesis in xeroderma pigmentosum group A gene (Xpa)-deficient mice. (18790090)
2008
10
Involvement of xeroderma pigmentosum group A (XPA) in progeria arising from defective maturation of prelamin A. (17848622)
2008
11
Oxidative damage induced genotoxic effects in human fibroblasts from Xeroderma Pigmentosum group A patients. (18585952)
2008
12
RecQ4 facilitates UV light-induced DNA damage repair through interaction with nucleotide excision repair factor xeroderma pigmentosum group A (XPA). (18693251)
2008
13
Mouse models for xeroderma pigmentosum group A and group C show divergent cancer phenotypes. (18316597)
2008
14
High-mobility group A1 proteins inhibit expression of nucleotide excision repair factor xeroderma pigmentosum group A. (17616660)
2007
15
Recognition of helical kinks by xeroderma pigmentosum group A protein triggers DNA excision repair. (16491090)
2006
16
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
17
A novel XPA gene mutation and its functional analysis in a Japanese patient with xeroderma pigmentosum group A. (16098033)
2005
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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64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Xeroderma Pigmentosum, Group a:

64
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:

1
id Gene Name 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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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Xeroderma Pigmentosum, Group a

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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50PathCards, 53QIAGEN, 55Reactome, 30KEGG, 5Cell Signaling Technology
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Compounds for genes affiliated with Xeroderma Pigmentosum, Group a

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45Novoseek, 51PharmGKB, 11DrugBank, 24HMDB
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Compounds related to Xeroderma Pigmentosum, Group a according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1hydroxyurea45 51 1111.3RPA2, RECQL4
2peroxynitrite459.2CPOX, TPH1
3ethanol45 51 24 1112.1CPOX, TPH1
4choline45 24 1110.8CPOX, TPH1
5h2o2458.7RECQL4, CPOX, TPH1
6glutamate458.6TPH1, CPOX, XPA

GO Terms for genes affiliated with Xeroderma Pigmentosum, Group a

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16Gene Ontology
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Biological processes related to Xeroderma Pigmentosum, Group a according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1nucleotide-excision repair, DNA damage removalGO:0007189.4XPA, RPA2
2DNA replicationGO:0062609.3RPA2, RECQL4
3nucleotide-excision repairGO:0062899.1XPA, RPA2
4DNA repairGO:0062818.8XPA, 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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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet