XP
MCID: XRD018
MIFTS: 61

Xeroderma Pigmentosum, Group a (XP) malady

Neuronal diseases, Skin diseases, Fetal diseases, Cancer diseases categories

Summaries for Xeroderma Pigmentosum, Group a

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46OMIM, 32MalaCards
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MalaCards: Xeroderma Pigmentosum, Group a, also known as xeroderma pigmentosum, is related to xeroderma pigmentosum and melanoma, and has symptoms including anomalies of eyelids, eyelashes and lacrimal system, small/atrophic/hypoplastic testes/monorchism/microorchidism/anorchia and conjunctival telangiectasia. An important gene associated with Xeroderma Pigmentosum, Group a is XPA (xeroderma pigmentosum, complementation group A), and among its related pathways are Assembly of the RAD51-ssDNA nucleoprotein complex and DNA damage DNA-damage-induced responses. The compounds cpds and glutamate have been mentioned in the context of this disorder. Affiliated tissues include skin, testes and eye, and related mouse phenotypes are pigmentation and endocrine/exocrine gland.

Description from OMIM:46 278700, 194400, 278720, 278730, 278740 278750, 278760, 278780, 610651 more

Aliases & Classifications for Xeroderma Pigmentosum, Group a

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48Orphanet, 46OMIM, 57SNOMED-CT via Orphanet, 26ICD10 via Orphanet, 35MESH via Orphanet, 61UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal diseases, Cancer diseases
Anatomical: Neuronal diseases, Skin diseases


Characteristics (Orphanet epidemiological data):

48
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 46
xeroderma pigmentosum 48 46
xeroderma pigmentosum complementation group a 48
xpa 48
xp 48


External Ids:

SNOMED-CT via Orphanet57 43477006, 44600005
ICD10 via Orphanet26 Q82.1
MESH via Orphanet35 D014983
UMLS via Orphanet61 C0043346

Related Diseases for Xeroderma Pigmentosum, Group a

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Sources:
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 178)
idRelated DiseaseScoreTop Affiliating Genes
1xeroderma pigmentosum31.7ERCC4, PTCH1, RPA2, RPA1, PSAP, XPA
2melanoma31.1XPC, TOP1, PRKDC, TPH1, PCNA, PTCH1
3cockayne syndrome30.7XPA, ERCC4, XPC
4fanconi's anemia30.7ERCC4, PTCH1, TOP1, PSAP, FANCC
5ovarian cancer30.6TOP1, CALB2, XPA, HMGA1, ATR
6breast cancer30.6CPOX, PTCH1, PCNA, HMGA1, TOP1
7prostate cancer30.6CPOX, PCNA, TOP1, HMGA1, XPC, PSAP
8adenocarcinoma30.5CALB2, XPA, XPC, PCNA, HMGA1, PTCH1
9bloom syndrome30.4RECQL4
10deficiency anemia30.4FANCC
11basal cell carcinoma30.4PTCH1
12nevoid basal cell carcinoma syndrome30.4PTCH1
13progeria30.4LMNA
14lung cancer30.4TOP1, LMNA, XPC, ERCC4, XPA, PCNA
15ataxia telangiectasia30.4ATR, TOP1, PRKDC, XPA, FANCC, RPA1
16squamous cell carcinoma30.4TOP1, XPA, ERCC4, PTCH1, PCNA, CALB2
17osteosarcoma30.2RECQL4, RPA1
18cataract30.2RECQL4
19astrocytoma30.2XPC, PCNA
20sarcoma30.2TOP1, CALB2
21leiomyoma30.2PCNA
22colorectal cancer30.2TOP1, PCNA, XPC
23hepatocellular carcinoma30.2PTCH1, HMGA1, PCNA, XPC
24werner syndrome30.1RPA1, TOP1, PRKDC, RECQL4, LMNA
25leukemia30.1FANCC, RPA1, TOP1, RECQL4, HMGA1, PSAP
26multiple sclerosis30.0RPA1
27myeloid leukemia30.0TOP1
28seminoma30.0TOP1, CALB2
29pancreatic cancer30.0TOP1, PCNA, HMGA1, PTCH1, FANCC
30epilepsy syndrome29.8TPH1, PVALB, CALB2, TOP1
31xeroderma pigmentosum, variant type10.7
32angiosarcoma10.6
33xeroderma pigmentosum, group b10.6
34xeroderma pigmentosum, group c10.6
35xeroderma pigmentosum, group d10.6
36xeroderma pigmentosum type 710.5
37xeroderma pigmentosum, group f10.5
38xeroderma pigmentosum, group e, ddb-negative subtype10.5
39xeroderma pigmentosum, group g10.5
40herpes simplex10.4
41prostatitis10.4
42chromosome xp deletion10.4
43skin squamous cell carcinoma10.4
44cockayne syndrome type i10.4
45xeroderma pigmentosum, type 910.4
46xeroderma pigmentosum, type 110.4
47xpc-related xeroderma pigmentosum10.4
48ercc1-related xeroderma pigmentosum10.4
49lung adenocarcinoma10.3
50pterygium10.3

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



Diseases related to xeroderma pigmentosum, group a

Clinical Features for Xeroderma Pigmentosum, Group a

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

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

Clinical synopsis from OMIM:

194400

Symptoms:

48 (show all 60)
  • anomalies of eyelids, eyelashes and lacrimal system
  • small/atrophic/hypoplastic testes/monorchism/microorchidism/anorchia
  • conjunctival telangiectasia
  • capillary hemangioma/nevus/naevus flammeus/port-wine stain
  • neoplasms/tumors
  • areflexia/hyporeflexia
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • irregular/patchy skin hypopigmentation
  • thick skin/pachydermia/orange skin
  • strabismus/squint
  • thin skin
  • peripheral neuropathy
  • cryptophthalmia/ankyloblepharon/synblepharon
  • skin hypoplasia/aplasia/atrophy
  • oral cavity/tongue neoplasm/tumor/carcinoma/cancer
  • telangiectasic erythema/poikiloderma
  • alopecia
  • 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
  • chronic uveitis/blepharitis/episcleritis/scleritis/conjonctivitis/keratitis
  • warts/papillomas
  • skin photosensitivity
  • telangiectasiae of the skin
  • 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
  • pigmented naevi/naevus pigmentosus/lentigo
  • 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
  • anomalies of teeth and dentition
  • optic nerve anomaly/optic atrophy/anomaly of the papilla
  • 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
  • short stature/dwarfism/nanism
  • sensorineural deafness/hearing loss
  • autosomal recessive inheritance

Drugs & Therapeutics for Xeroderma Pigmentosum, Group a

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Xeroderma Pigmentosum, Group a

Drug clinical trials:

Search ClinicalTrials for Xeroderma Pigmentosum, Group a

Search NIH Clinical Center for Xeroderma Pigmentosum, Group a

Search CenterWatch 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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32MalaCards
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MalaCards organs/tissues related to Xeroderma Pigmentosum, Group a:

32
Skin, Testes, Eye, Tongue, Bone

Animal Models for Xeroderma Pigmentosum, Group a or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Xeroderma Pigmentosum, Group a:

36 (show all 20)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000118610.4XPA, ATR
2MP:000537910.0HMGA1, PSAP, FANCC
3MP:00053759.8LMNA, TPH1, PRKDC
4MP:00020069.7RPA1, ATR, RECQL4, HMGA1, PTCH1
5MP:00053889.5ATR, TPH1, PSAP
6MP:00107719.2XPC, ATR, TPH1, PTCH1, RECQL4, PRKDC
7MP:00053899.2ATR, PSAP, FANCC, PCNA, PTCH1
8MP:00053829.0LMNA, RECQL4, PRKDC, XPA, ATR, PTCH1
9MP:00053818.9PSAP, ATR, PRKDC, LMNA, RECQL4, PTCH1
10MP:00053708.9ATR, PSAP, ERCC4, LMNA, PRKDC, XPA
11MP:00053918.9PTCH1, CPOX, LMNA, RECQL4, PRKDC, XPC
12MP:00053698.8PTCH1, PRKDC, PSAP, PVALB, LMNA, TPH1
13MP:00036318.7PTCH1, PVALB, CALB2, PSAP, PRKDC
14MP:00053908.6PRKDC, ATR, LMNA, PSAP, FANCC, XPA
15MP:00053977.9PSAP, RECQL4, PTCH1, FANCC, HMGA1, LMNA
16MP:00053867.9PVALB, ATR, XPA, PRKDC, LMNA, PTCH1
17MP:00053877.8ATR, PRKDC, RECQL4, PCNA, PTCH1, FANCC
18MP:00053787.7RECQL4, PTCH1, ERCC4, TPH1, HMGA1, LMNA
19MP:00053847.6ATR, RPA1, PVALB, XPC, RECQL4, ERCC4
20MP:00107687.5PTCH1, XPA, PCNA, ERCC4, LMNA, RECQL4

Publications for Xeroderma Pigmentosum, Group a

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Genetic Variations for Xeroderma Pigmentosum, Group a

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Sources:
62UniProtKB/Swiss-Prot
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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

Expression for genes affiliated with Xeroderma Pigmentosum, Group a

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1BioGPS, 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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Sources:
53Reactome, 12EMD Millipore, 37NCBI BioSystems Database, 51QIAGEN, 29KEGG, 4Cell Signaling Technology
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Pathways related to Xeroderma Pigmentosum, Group a according to GeneCards/GeneDecks:

(show all 19)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
10.1RPA2, RPA1
29.9ATR, PRKDC
3
Transcription P53 signaling pathway
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9.9XPA, XPC, ATR
4
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9.9ATR, RPA2, RPA1
5
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9.8PRKDC, RPA1, RPA2
6
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9.6PCNA, RPA1, RPA2
7
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9.6RPA2, RPA1, PCNA
8
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9.6RPA1, PCNA, RPA2
9
DNA damage Role of Brca1 and Brca2 in DNA repair
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9.5ATR, PCNA, XPC
10
Apoptosis and survival Caspase cascade
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9.5PRKDC, LMNA, TOP1
119.4RPA1, FANCC, ERCC4, RPA2, ATR
12
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9.3RPA2, XPC, PCNA, ERCC4
13
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9.1PRKDC, FANCC, PCNA, ATR
14
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9.0RPA2, RPA1, ATR, PCNA, LMNA
15
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9.0ATR, RPA1, LMNA, RPA2, PCNA
16
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9.0PCNA, RPA2, RPA1, LMNA, ATR
17
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8.4XPA, ERCC4, PCNA, PRKDC, ATR, XPC
18
Hide members
8.3RECQL4, PCNA, ATR, XPC, RPA1, RPA2
19
Hide members
8.2ERCC4, RPA2, RPA1, FANCC, XPA, XPC

Compounds for genes affiliated with Xeroderma Pigmentosum, Group a

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Sources:
44Novoseek, 11DrugBank, 49PharmGKB, 59Tocris Bioscience, 24HMDB, 28IUPHAR
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Compounds related to Xeroderma Pigmentosum, Group a according to GeneCards/GeneDecks:

(show all 31)
idCompoundScoreTop Affiliating Genes
1cpds4410.4RPA1, XPA
2glutamate4410.4XPA, TPH1
3dbds4410.3HMGA1, RPA1
4psoralen4410.3XPA, ERCC4
52-acetylaminofluorene4410.3XPC, XPA
67-hydroxystaurosporine44 1111.0TOP1, RPA2
7cyanine449.9CALB2, PVALB
8melphalan44 1110.9ERCC4, TOP1, FANCC
9methylmethanesulfonate449.9PCNA, ATR, RPA1
10rpa 2449.7PCNA, RPA2, RPA1, ATR
11aphidicolin449.6PCNA, ATR, RPA2, TOP1
12thymidylate449.5RPA1, TOP1, PCNA, ERCC4
13etoposide44 49 59 1112.3RPA1, RPA2, ATR, TOP1, PCNA
14mitomycin c449.3PCNA, ERCC4, FANCC, XPA, TOP1
15ethanol44 49 11 2412.3PVALB, TPH1, CPOX, CALB2
16choline44 11 2411.3PVALB, CPOX, TPH1, CALB2, PSAP
17cytarabine44 49 1111.3PCNA, ATR, TOP1
18wortmannin449.3PSAP, ATR, XPC, RPA2
19silver449.3PCNA, PVALB, CALB2
20oligonucleotide449.2RPA2, PSAP, RPA1, XPA, XPC, PCNA
21hydroxyurea44 49 1111.2PCNA, TOP1, RPA1, RPA2, RECQL4, ATR
22h2o2449.2PCNA, RECQL4, TPH1, TOP1, CPOX
23atp44 2810.1XPA, XPC, LMNA, PSAP, CPOX, RPA1
24camptothecin44 59 1111.1RPA2, PRKDC, TOP1, ATR, RPA1, PCNA
25arginine449.0PCNA, LMNA, PSAP, HMGA1, CPOX, TPH1
26cisplatin44 49 59 1112.0XPC, RPA1, XPA, ERCC4, PCNA, TOP1
27nitric oxide44 11 2411.0CPOX, TPH1, PRKDC, CALB2, PVALB, RPA1
28zinc44 249.9PTCH1, XPA, CALB2, LMNA, PVALB, RPA1
29serine448.5RPA2, PVALB, PSAP, ATR, PRKDC, LMNA
30calcium44 49 11 2411.2PVALB, LMNA, HMGA1, TPH1, CPOX, XPC
31tyrosine448.2RPA2, XPC, PSAP, CALB2, PVALB, RPA1

GO Terms for genes affiliated with Xeroderma Pigmentosum, Group a

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16Gene Ontology
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Cellular components related to Xeroderma Pigmentosum, Group a according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1PML bodyGO:0166059.9ATR, RPA1, RPA2
2DNA replication factor A complexGO:0056629.8RPA2, RPA1
3nucleoplasmGO:0056547.2ERCC4, RPA2, RPA1, FANCC, XPA, XPC

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

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1DNA-dependent DNA replicationGO:00626110.1RPA1, RPA2
2DNA recombinase assemblyGO:00073010.0RPA1, RPA2
3double-strand break repair via homologous recombinationGO:0007249.9RPA2, ERCC4, RPA1
4nucleotide-excision repair, DNA damage removalGO:0007189.8XPC, XPA, RPA1, RPA2, ERCC4
5telomere maintenance via semi-conservative replicationGO:0322019.8PCNA, RPA1, RPA2
6nucleotide-excision repair, DNA gap fillingGO:0062979.7RPA2, PCNA, RPA1
7telomere maintenance via recombinationGO:0007229.7RPA1, RPA2, PCNA
8DNA strand elongation involved in DNA replicationGO:0062719.6RPA2, PCNA, RPA1
9transcription-coupled nucleotide-excision repairGO:0062839.6PCNA, ERCC4, RPA1, RPA2
10double-strand break repairGO:0063029.5PRKDC, RPA1, RPA2
11telomere maintenanceGO:0007239.3PRKDC, ERCC4, PCNA, RPA1, RPA2
12DNA replicationGO:0062609.0RECQL4, RPA2, RPA1, TOP1, PCNA, ATR
13nucleotide-excision repairGO:0062899.0FANCC, XPA, PCNA, RPA1, RPA2, ERCC4
14DNA repairGO:0062818.3FANCC, RECQL4, PCNA, PRKDC, ATR, XPC

Molecular functions related to Xeroderma Pigmentosum, Group a according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1bubble DNA bindingGO:00040510.0RECQL4, XPC
2damaged DNA bindingGO:0036849.9ERCC4, XPC, XPA
3single-stranded DNA bindingGO:0036979.7ERCC4, RPA2, RPA1, XPC
4MutLalpha complex bindingGO:0324059.4PCNA, ATR
5protein bindingGO:0055157.0PTCH1, RPA2, RPA1, FANCC, XPA, XPC

Products for genes affiliated with Xeroderma Pigmentosum, Group a

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Xeroderma Pigmentosum, Group a

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet