CS
MCID: CCK001
MIFTS: 62

Cockayne Syndrome (CS) malady

Genetic diseases, Rare diseases, Ear diseases, Neuronal diseases, Eye diseases, Skin diseases, Fetal diseases, Cancer diseases, Bone diseases categories
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Summaries for Cockayne Syndrome

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8Disease Ontology, 21Genetics Home Reference, 43NIH Rare Diseases, 65Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 C syndrome, also known as opitz trigonocephaly syndrome, is characterized by trigonocephaly, severe intellectual disability, hypotonia, variable cardiac defects, redundant (extra folds of) skin, joint and limb abnormalities, and unusual facial features such as upslanted palpebral fissures (upward pointing outside corners of the eyes), epicanthal folds, depressed nasal bridge, and low-set, posteriorly rotated ears. this condition is genetically heterogeneous, meaning that there is evidence of more than one type of inheritance. while many cases are sporadic, autosomal recessive, autosomal dominant, and germline mosaicism have all been suggested. at least some cases of c syndrome have been caused by dysfunction of the cd96 gene.   last updated: 6/19/2014

MalaCards: Cockayne Syndrome, also known as dwarfism-retinal atrophy-deafness syndrome, is related to xeroderma pigmentosum and xeroderma pigmentosum, group d. An important gene associated with Cockayne Syndrome is ERCC8 (excision repair cross-complementation group 8), and among its related pathways are Cyclophosphamide Pathway, Pharmacodynamics and Fanconi anemia pathway. The compounds ecteinascidin 743 and 8-hydroxyadenine have been mentioned in the context of this disorder. Affiliated tissues include eye, skin and b cells, and related mouse phenotypes are adipose tissue and vision/eye.

Disease Ontology:8 An autosomal recessive disease that is caused by rare mutations in two dna excision repair proteins, ercc-8 and ercc-6, and characterized by growth failure, impaired development of the nervous system, abnormal sensitivity to sunlight (photosensitivity), and premature aging.

Genetics Home Reference:21 Cockayne syndrome is a rare disorder characterized by short stature and an appearance of premature aging. Features of this disorder include a failure to gain weight and grow at the expected rate (failure to thrive), abnormally small head size (microcephaly), and impaired development of the nervous system. Affected individuals have an extreme sensitivity to sunlight (photosensitivity), and even a small amount of sun exposure can cause a sunburn. Other possible signs and symptoms include hearing loss, eye abnormalities, severe tooth decay, bone abnormalities, and changes in the brain that can be seen on brain scans.

Wikipedia:65 Cockayne syndrome (also called Weber-Cockayne syndrome, or Neill-Dingwall syndrome) is a rare autosomal... more...

Description from OMIM:47 133540,216400

GeneReviews summary for cockayne

Aliases & Classifications for Cockayne Syndrome

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8Disease Ontology, 65Wikipedia, 19GeneReviews, 43NIH Rare Diseases, 21Genetics Home Reference, 10DISEASES, 45Novoseek, 62UMLS, 20GeneTests, 40NCIt, 47OMIM, 35MeSH, 58SNOMED-CT
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Classifications:



Aliases & Descriptions:

cockayne syndrome 8 65 19 43 21 10 45 62
dwarfism-retinal atrophy-deafness syndrome 65 43 21
progeria-like syndrome 65 43 21
progeroid nanism 65 43 21
opitz trigonocephaly syndrome 43 62
cockayne's syndrome 43 20
cs 65 21
trigonocephaly c syndrome 43
neill-dingwall syndrome 65
trigonocephaly syndrome 43
trigonocephaly 45
c syndrome 43


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Disease Ontology8 DOID:2962
NCIt40 C9460
SNOMED-CT58 205832003, 21086008
MeSH35 D003057

Related Diseases for Cockayne Syndrome

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17GeneCards, 18GeneDecks
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Diseases in the Cockayne Syndrome Type Ii family:

cockayne syndrome Cockayne Syndrome Type I
Cockayne Syndrome Type Iii Ercc8-Related Cockayne Syndrome
Ercc6-Related Cockayne Syndrome

Diseases related to Cockayne Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 162)
idRelated DiseaseScoreTop Affiliating Genes
1xeroderma pigmentosum30.8ERCC1, OGG1, ERCC8, ERCC3, ERCC6, XPC
2xeroderma pigmentosum, group d30.4ERCC2, ERCC3
3fanconi's anemia30.1ERCC2, ERCC4
4lung cancer30.0ERCC2, ERCC1, OGG1
5testicular cancer29.9ERCC2, ERCC1
6cockayne syndrome type i10.7
7cockayne syndrome type ii10.7
8cockayne syndrome type iii10.6
9xeroderma pigmentosum, group g10.4
10uv sensitive syndrome10.4
11trigonocephaly 110.4
12cerebro-oculo-facio-skeletal syndrome10.3
13synostosis10.3
14say meyer syndrome10.3
15trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feet10.3
16trigonocephaly 210.3
17progeria10.3
18neuropathy10.3
19xeroderma pigmentosum, group a10.3
20xeroderma pigmentosum, group g/cockayne syndrome10.3
21cushing's syndrome10.2
22endocarditis10.2
23baraitser-winter syndrome10.2
24polysyndactyly trigonocephaly agenesis of corpus callosum10.2
25trigonocephaly - broad thumbs10.2
26malaria10.2
27insulin resistance10.2
28cerebritis10.2
29hypertension10.2
30ischemia10.2
31peripheral neuropathy10.2
32epidermolysis bullosa simplex, localized10.2
33ercc8-related cockayne syndrome10.2
34ercc6-related cockayne syndrome10.2
35ataxia10.2
36xeroderma pigmentosum, group c10.2
37xeroderma pigmentosum, group f10.2
38xeroderma pigmentosum, type f/cockayne syndrome10.2
39cerebrooculofacioskeletal syndrome 410.2
40cerebrooculofacioskeletal syndrome 210.2
41calciphylaxis10.1
42uv-sensitive syndrome 110.1ERCC6
43coloboma10.1
44partial agenesis of corpus callosum10.1
45plagiocephaly10.1
46trigonocephaly, nonsyndromic10.1
47wolff-parkinson-white syndrome10.1
48kennedy's disease10.1
49cowden disease10.1
50leber hereditary optic neuropathy10.1

Graphical network of the top 20 diseases related to Cockayne Syndrome:



Diseases related to cockayne syndrome

Symptoms for Cockayne Syndrome

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47OMIM
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Clinical features from OMIM:

133540,216400

Drugs & Therapeutics for Cockayne Syndrome

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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Cockayne Syndrome

Search NIH Clinical Center for Cockayne Syndrome

Genetic Tests for Cockayne Syndrome

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20GeneTests
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Genetic tests related to Cockayne Syndrome:

id Genetic test Affiliating Genes
1 Cockayne Syndrome20 ERCC8

Anatomical Context for Cockayne Syndrome

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33MalaCards
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MalaCards organs/tissues related to Cockayne Syndrome:

33
Eye, Skin, B cells, Brain, Lung, Testes, T cells, Fetal brain

Animal Models for Cockayne Syndrome or affiliated genes

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37MGI
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Publications for Cockayne Syndrome

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52PubMed
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Articles related to Cockayne Syndrome:

(show top 50)    (show all 327)
idTitleAuthorsYear
1
From laboratory tests to functional characterisation of Cockayne syndrome. (23567079)
2013
2
Cockayne syndrome b maintains neural precursor function. (23245699)
2013
3
Tracking the Cognitive, Social, and Neuroanatomical Profile in Early Neurodegeneration: Type III Cockayne Syndrome. (24324434)
2013
4
The conserved Cockayne syndrome B-piggyBac fusion protein (CSB-PGBD3) affects DNA repair and induces both interferon-like and innate antiviral responses in CSB-null cells. (22483866)
2012
5
Reciprocally regulated chromatin association of Cockayne syndrome protein B and p53 protein. (21852235)
2011
6
Downregulation of Cockayne syndrome B protein reduces human 8-oxoguanine DNA glycosylase-1 expression and repair of UV radiation-induced 8-oxo-7,8-dihydro-2'-deoxyguanine. (21668583)
2011
7
Testicular nuclear receptor 4 (TR4) regulates UV light-induced responses via Cockayne syndrome B protein-mediated transcription-coupled DNA repair. (21918225)
2011
8
Cockayne syndrome B protein (CSB): linking p53, HIF-1 and p300 to robustness, lifespan, cancer and cell fate decisions. (19221478)
2009
9
A novel DNA repair disorder with thrombocytopenia, nephrosis and features overlapping Cockayne syndrome. (19760648)
2009
10
Perioperative management of patients with Cockayne syndrome - recognition of accelerated aging with growth arrest. (18315666)
2008
11
The role of Cockayne Syndrome group B (CSB) protein in base excision repair and aging. (18541289)
2008
12
Activation of RNA polymerase I transcription by cockayne syndrome group B protein and histone methyltransferase G9a. (17707230)
2007
13
The current evidence for defective repair of oxidatively damaged DNA in Cockayne syndrome. (17603927)
2007
14
Xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome: a complex genotype-phenotype relationship. (17276014)
2007
15
A common mutational pattern in Cockayne syndrome patients from xeroderma pigmentosum group G: implications for a second XPG function. (17179216)
2006
16
Host cell reactivation of plasmids containing oxidative DNA lesions is defective in Cockayne syndrome but normal in UV-sensitive syndrome fibroblasts. (16129663)
2006
17
Cockayne syndrome in 2 siblings. (15951889)
2005
18
Characterisation of novel mutations in Cockayne syndrome type A and xeroderma pigmentosum group C subjects. (15744458)
2005
19
The gene expression and deficiency phenotypes of Cockayne syndrome B protein in Caenorhabditis elegans. (12095617)
2002
20
UVB radiation-induced cancer predisposition in Cockayne syndrome group A (Csa) mutant mice. (12509261)
2002
21
Early postnatal ataxia and abnormal cerebellar development in mice lacking Xeroderma pigmentosum Group A and Cockayne syndrome Group B DNA repair genes. (11687625)
2001
22
Manitoba aboriginal kindred with original cerebro-oculo-facio- skeletal syndrome has a mutation in the Cockayne syndrome group B (CSB) gene. (10739753)
2000
23
Cockayne syndrome and xeroderma pigmentosum. (11185579)
2000
24
Cockayne syndrome. (11310397)
2000
25
The relationship between benzo[a]pyrene-induced mutagenesis and carcinogenesis in repair-deficient Cockayne syndrome group B mice. (11059760)
2000
26
Detection of UV-induced K-ras codon 12 mutation by PCR and differential dot-blot hybridization in cells from Down syndrome and Cockayne syndrome. (9864418)
1999
27
Biochemical and biological characterization of wild-type and ATPase-deficient Cockayne syndrome B repair protein. (9565609)
1998
28
Defective transcription-coupled repair in Cockayne syndrome B mice is associated with skin cancer predisposition. (9150142)
1997
29
Rodent complementation group 8 (ERCC8) corresponds to Cockayne syndrome complementation group A. (8596535)
1996
30
Cockayne syndrome: review of 25 cases. (8972530)
1996
31
Impaired jun-NH2-terminal kinase activation by ultraviolet irradiation in fibroblasts of patients with Cockayne syndrome complementation group B. (8780897)
1996
32
Somatic cell mutation frequency at the HPRT, T-cell antigen receptor and glycophorin A loci in Cockayne syndrome. (7596357)
1995
33
Cockayne syndrome: a case report. (7810287)
1994
34
Cockayne syndrome: a case with hyperinsulinemia and growth hormone deficiency. (8068222)
1994
35
Essential role of polyamines in restoration of DNA synthesis after UV radiation and expression of UV resistance in Cockayne syndrome cells. (7802627)
1994
36
Ultraviolet-induced mutations in Cockayne syndrome cells are primarily caused by cyclobutane dimer photoproducts while repair of other photoproducts is normal. (8346243)
1993
37
Cockayne Syndrome (20301516)
1993
38
Ocular findings in Cockayne syndrome. (1443019)
1992
39
MRI in Cockayne syndrome type I. (2779780)
1989
40
Clinical and biochemical studies in three patients with severe early infantile Cockayne syndrome. (2478446)
1989
41
Cockayne syndrome: MRI correlates of hypomyelination. (3242508)
1988
42
Cockayne syndrome: magnetic resonance images of the brain in a severe form with early onset. (3128691)
1988
43
Ultraviolet light-induced chromosomal aberrations in cultured cells from Cockayne syndrome and complementation group C xeroderma pigmentosum patients: lack of correlation with cancer susceptibility. (3348214)
1988
44
Ultraviolet hypersensitivity of Cockayne syndrome lymphoblastoid lines--the effects of exogenous beta-nicotinamide adenine dinucleotide. (3562572)
1986
45
Establishment of Cockayne syndrome fibroblast cell line belonging to complementation group B by SV40 transformation. (2989592)
1985
46
The neuropathy of Cockayne syndrome. (6314729)
1983
47
Cockayne syndrome: an atypical case. (7192807)
1980
48
Cockayne syndrome: report of two siblings and review of literature in Japan. (553450)
1979
49
Xeroderma pigmentosum and Cockayne syndrome. (662506)
1978
50
Cockayne syndrome: clinical study of two patients and neuropathologic findings in one. (837626)
1977

Variations for Cockayne Syndrome

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Cockayne Syndrome:

1
id Gene Name Type Significance SNP ID Assembly Location
1CD96NM_198196.2(CD96): c.839C> T (p.Thr280Met)single nucleotide variantPathogenicrs119477056GRCh37Chr 3, 111304209: 111304209

Expression for genes affiliated with Cockayne Syndrome

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Cockayne Syndrome

Search GEO for disease gene expression data for Cockayne Syndrome.

Pathways for genes affiliated with Cockayne Syndrome

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50PathCards, 51PharmGKB, 30KEGG, 55Reactome, 53QIAGEN, 5Cell Signaling Technology, 60Thomson Reuters
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Pathways related to Cockayne Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.4ERCC1, ERCC4
29.4ERCC1, ERCC4
3
Show member pathways
9.3ERCC6, ERCC3, ERCC2
4
Show member pathways
9.3ERCC6, ERCC3, ERCC2
5
Show member pathways
8.5XPC, ERCC2, ERCC1, ERCC3
68.3XPC, XPA, ERCC2, ERCC3
7
Show member pathways
7.6ERCC2, ERCC5, ERCC4, ERCC1, ERCC3, OGG1
8
Show member pathways
6.3XPC, ERCC6, ERCC3, ERCC1, ERCC8, ERCC4
9
Show member pathways
5.8OGG1, ERCC6, ERCC3, ERCC1, ERCC8, ERCC4

Compounds for genes affiliated with Cockayne Syndrome

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45Novoseek, 24HMDB, 51PharmGKB, 11DrugBank, 29IUPHAR, 61Tocris Bioscience
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Compounds related to Cockayne Syndrome according to GeneCards/GeneDecks:

(show all 29)
idCompoundScoreTop Affiliating Genes
1ecteinascidin 7434510.0ERCC2, ERCC5
28-hydroxyadenine4510.0ERCC6, OGG1
38-hydroxyguanine4510.0OGG1, ERCC6
48-oxoguanine459.9ERCC6, OGG1
5cotinine45 2410.8OGG1, ERCC2
6platinum compounds519.7ERCC1, ERCC2
7thymine glycol459.7ERCC5, ERCC6, OGG1
8vinorelbine45 51 1111.6ERCC2, ERCC1
9thymine45 2410.6XPC, OGG1
10bcnu459.6ERCC1, ERCC2
112-acetylaminofluorene459.5XPA, XPC
12platinum45 5110.5ERCC1, ERCC2, ERCC5
13fluorouracil51 1110.5ERCC2, ERCC1
14phosphodiester459.5OGG1, ERCC3, ERCC5
15cpds459.4ERCC3, XPA
16leucovorin45 51 1111.4ERCC1, ERCC2
17thymidylate459.3ERCC2, ERCC4, ERCC1
18cyclophosphamide45 51 1111.3ERCC1, ERCC4, ERCC2
195fluorouracil459.2ERCC1, ERCC4, ERCC2
20cadmium45 2410.1OGG1, XPA
21oxaliplatin45 51 1111.0ERCC1, ERCC2, XPA
22benzo(a)pyrene459.0ERCC1, XPA, XPC
23psoralen459.0XPA, ERCC4, ERCC1
24mitomycin c458.9XPA, ERCC4, ERCC1
25melphalan45 51 1110.9ERCC2, ERCC4, ERCC1, ERCC3
26thymidine45 249.6OGG1, ERCC1, ERCC4
27oligonucleotide458.1XPC, XPA, ERCC5, ERCC1, OGG1
28atp45 298.9XPC, XPA, ERCC5, ERCC3, ERCC6, OGG1
29cisplatin45 51 61 1110.3ERCC3, XPC, XPA, ERCC5, ERCC2, ERCC4

GO Terms for genes affiliated with Cockayne Syndrome

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16Gene Ontology
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Cellular components related to Cockayne Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1SSL2-core TFIIH complexGO:0004419.5ERCC3, ERCC2
2transcription factor TFIID complexGO:0056699.4ERCC1, ERCC4
3holo TFIIH complexGO:0056759.3ERCC2, ERCC3, ERCC5
4nucleotide-excision repair complexGO:0001099.2ERCC1, ERCC4, ERCC8
5nuclear chromosome, telomeric regionGO:0007849.1ERCC1, ERCC4
6nucleolusGO:0057306.9ERCC3, ERCC6, OGG1, ERCC1, ERCC5, XPA
7nucleoplasmGO:0056546.0ERCC3, ERCC6, ERCC1, ERCC8, ERCC4, ERCC2
8nucleusGO:0056345.9ERCC8, OGG1, ERCC6, ERCC3, ERCC1, XPC

Biological processes related to Cockayne Syndrome according to GeneCards/GeneDecks:

(show all 28)
idNameGO IDScoreTop Affiliating Genes
1response to UV-BGO:01022410.0XPC, ERCC6
2hair cell differentiationGO:0353159.9ERCC3, ERCC2
3transcription elongation from RNA polymerase I promoterGO:0063629.8ERCC2, ERCC3
4termination of RNA polymerase I transcriptionGO:0063639.8ERCC2, ERCC3
5transcription initiation from RNA polymerase I promoterGO:0063619.8ERCC3, ERCC2
67-methylguanosine mRNA cappingGO:0063709.8ERCC3, ERCC2
7base-excision repairGO:0062849.7OGG1, ERCC6
8transcription from RNA polymerase I promoterGO:0063609.7ERCC2, ERCC3
9nucleotide-excision repair, DNA incision, 5-to lesionGO:0062969.7ERCC1, ERCC4
10negative regulation of telomere maintenanceGO:0322059.7ERCC1, ERCC4
11positive regulation of viral transcriptionGO:0504349.6ERCC2, ERCC3
12response to X-rayGO:0101659.5ERCC6, ERCC8, ERCC1
13regulation of mitotic cell cycle phase transitionGO:19019909.5ERCC2, ERCC3, XPC
14nucleotide-excision repair, DNA incisionGO:0336839.4ERCC2, ERCC3, ERCC4
15nucleotide-excision repair, DNA incision, 3-to lesionGO:0062959.4ERCC4, ERCC5, ERCC1
16intrinsic apoptotic signaling pathway in response to DNA damageGO:0086309.3XPA, ERCC6
17response to toxic substanceGO:0096369.3XPA, ERCC6
18transcription elongation from RNA polymerase II promoterGO:0063689.3ERCC3, ERCC2
19transcription from RNA polymerase II promoterGO:0063669.2ERCC3, ERCC2, ERCC6
20DNA catabolic process, endonucleolyticGO:0007378.9ERCC1, ERCC4, OGG1, ERCC5
21multicellular organism growthGO:0352648.6ERCC2, ERCC1, XPA, ERCC6
22UV protectionGO:0096508.5ERCC5, ERCC3, ERCC1, ERCC2, ERCC4
23response to UVGO:0094118.1ERCC3, ERCC6, ERCC8, ERCC4, ERCC5, XPA
24transcription-coupled nucleotide-excision repairGO:0062837.9ERCC5, ERCC2, ERCC4, ERCC8, ERCC1, ERCC3
25response to oxidative stressGO:0069797.4XPA, ERCC2, ERCC8, ERCC3, ERCC6, OGG1
26nucleotide-excision repair, DNA damage removalGO:0007187.3ERCC2, XPA, ERCC5, ERCC4, ERCC1, ERCC3
27nucleotide-excision repairGO:0062896.2ERCC8, ERCC1, ERCC3, ERCC6, OGG1, ERCC4
28DNA repairGO:0062816.1OGG1, ERCC6, ERCC1, ERCC8, XPC, XPA

Molecular functions related to Cockayne Syndrome according to GeneCards/GeneDecks:

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1bubble DNA bindingGO:0004059.9ERCC5, XPC
2DNA helicase activityGO:0036789.8ERCC8, ERCC6
3endodeoxyribonuclease activityGO:0045209.7ERCC5, ERCC4
4endonuclease activityGO:0045199.6OGG1, ERCC5
5TFIID-class transcription factor bindingGO:0010949.6ERCC4, ERCC1
6RNA polymerase II carboxy-terminal domain kinase activityGO:0083539.6ERCC3, ERCC2
7single-stranded DNA endodeoxyribonuclease activityGO:0000149.6ERCC1, ERCC4
8structure-specific DNA bindingGO:0435669.5ERCC4, ERCC1
9ATP-dependent DNA helicase activityGO:0040039.3ERCC3, ERCC2
10DNA-dependent ATPase activityGO:0080949.2ERCC2, ERCC8, ERCC3, ERCC6
11single-stranded DNA bindingGO:0036978.9XPC, ERCC5, ERCC4, ERCC1
12protein N-terminus bindingGO:0474858.7ERCC5, ERCC2, ERCC4, ERCC3, ERCC6
13protein C-terminus bindingGO:0080228.4ERCC6, ERCC3, ERCC1, ERCC4, ERCC2
14damaged DNA bindingGO:0036847.4OGG1, ERCC3, ERCC1, ERCC4, XPA, XPC
15protein bindingGO:0055156.0XPC, XPA, ERCC5, ERCC2, ERCC4, ERCC8

Products for genes affiliated with Cockayne Syndrome

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Sources for Cockayne Syndrome

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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