CS
MCID: CCK001
MIFTS: 64

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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NIH Rare Diseases:42 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 based summary: Cockayne Syndrome, also known as dwarfism-retinal atrophy-deafness syndrome, is related to xeroderma pigmentosum, group d and photosensitive trichothiodystrophy. 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, brain and skin, 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...

Descriptions from OMIM:46 133540,216400

GeneReviews summary for cockayne

Aliases & Classifications for Cockayne Syndrome

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Cockayne Syndrome, Aliases & Descriptions:

Name: Cockayne Syndrome 8 65 19 42 21 10 44 62
Dwarfism-Retinal Atrophy-Deafness Syndrome 65 42 21 62
Progeroid Nanism 65 42 21 62
Progeria-Like Syndrome 65 42 21
Opitz Trigonocephaly Syndrome 42 62
Neill-Dingwall Syndrome 65 62
 
Cockayne's Syndrome 42 20
Cs 65 21
Trigonocephaly C Syndrome 42
Trigonocephaly Syndrome 42
Trigonocephaly 44
C Syndrome 42


Classifications:



External Ids:

Disease Ontology8 DOID:2962
NCIt39 C9460
SNOMED-CT57 21086008, 205832003
MeSH34 D003057

Related Diseases for Cockayne Syndrome

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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 167)
idRelated DiseaseScoreTop Affiliating Genes
1xeroderma pigmentosum, group d30.7ERCC3, ERCC2
2photosensitive trichothiodystrophy30.3ERCC2, ERCC3
3fanconi's anemia30.2ERCC4, ERCC2
4lung cancer30.0OGG1, ERCC1, ERCC2
5testicular cancer29.8ERCC1, ERCC2
6xeroderma pigmentosum29.2OGG1, ERCC6, ERCC3, ERCC1, ERCC8, ERCC4
7cockayne syndrome type i10.7
8cockayne syndrome type ii10.7
9cockayne syndrome type iii10.6
10uv-sensitive syndrome 110.4ERCC6
11xeroderma pigmentosum, group g10.4
12uv sensitive syndrome10.4
13trigonocephaly 110.4
14trigonocephaly 210.3
15cerebro-oculo-facio-skeletal syndrome10.3
16synostosis10.3
17say meyer syndrome10.3
18trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feet10.3
19progeria10.3
20neuropathy10.3
21xeroderma pigmentosum, group a10.3
22xeroderma pigmentosum, group g/cockayne syndrome10.3
23cushing's syndrome10.2
24endocarditis10.2
25baraitser-winter syndrome10.2
26polysyndactyly trigonocephaly agenesis of corpus callosum10.2
27trigonocephaly - broad thumbs10.2
28malaria10.2
29insulin resistance10.2
30hypertension10.2
31neuronitis10.2
32cerebritis10.2
33ischemia10.2
34peripheral neuropathy10.2
35neurologic diseases10.2
36epidermolysis bullosa simplex, localized10.2
37ercc8-related cockayne syndrome10.2
38ercc6-related cockayne syndrome10.2
39ataxia10.2
40xeroderma pigmentosum, group c10.2
41xeroderma pigmentosum, group f10.2
42xeroderma pigmentosum, type f/cockayne syndrome10.2
43cerebrooculofacioskeletal syndrome 410.2
44cerebrooculofacioskeletal syndrome 210.2
45calciphylaxis10.2
46bladder carcinoma in situ10.1ERCC2, XPC
47cat eye syndrome10.1
48coloboma10.1
49partial agenesis of corpus callosum10.1
50plagiocephaly10.1

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



Diseases related to cockayne syndrome

Symptoms for Cockayne Syndrome

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Clinical features from OMIM:

133540,216400

Drugs & Therapeutics for Cockayne Syndrome

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Drug clinical trials:

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Genetic Tests for Cockayne Syndrome

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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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MalaCards organs/tissues related to Cockayne Syndrome:

32
Eye, Brain, Skin, Bone, B cells, Lung, Testes, T cells, Fetal brain

Animal Models for Cockayne Syndrome or affiliated genes

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Publications for Cockayne Syndrome

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Articles related to Cockayne Syndrome:

(show top 50)    (show all 342)
idTitleAuthorsYear
1
Melatonin alterations and brain acetylcholine lesions in sleep disorders in Cockayne syndrome. (24503446)
2014
2
Cockayne syndrome protein A is a transcription factor of RNA polymerase I and stimulates ribosomal biogenesis and growth. (24781187)
2014
3
From laboratory tests to functional characterisation of Cockayne syndrome. (23567079)
2013
4
Cockayne syndrome b maintains neural precursor function. (23245699)
2013
5
Tracking the Cognitive, Social, and Neuroanatomical Profile in Early Neurodegeneration: Type III Cockayne Syndrome. (24324434)
2013
6
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
7
Reciprocally regulated chromatin association of Cockayne syndrome protein B and p53 protein. (21852235)
2011
8
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
9
Testicular nuclear receptor 4 (TR4) regulates UV light-induced responses via Cockayne syndrome B protein-mediated transcription-coupled DNA repair. (21918225)
2011
10
Cockayne syndrome B protein (CSB): linking p53, HIF-1 and p300 to robustness, lifespan, cancer and cell fate decisions. (19221478)
2009
11
A novel DNA repair disorder with thrombocytopenia, nephrosis and features overlapping Cockayne syndrome. (19760648)
2009
12
Perioperative management of patients with Cockayne syndrome - recognition of accelerated aging with growth arrest. (18315666)
2008
13
Activation of RNA polymerase I transcription by cockayne syndrome group B protein and histone methyltransferase G9a. (17707230)
2007
14
The current evidence for defective repair of oxidatively damaged DNA in Cockayne syndrome. (17603927)
2007
15
Xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome: a complex genotype-phenotype relationship. (17276014)
2007
16
A common mutational pattern in Cockayne syndrome patients from xeroderma pigmentosum group G: implications for a second XPG function. (17179216)
2006
17
Host cell reactivation of plasmids containing oxidative DNA lesions is defective in Cockayne syndrome but normal in UV-sensitive syndrome fibroblasts. (16129663)
2006
18
Cockayne syndrome in 2 siblings. (15951889)
2005
19
Characterisation of novel mutations in Cockayne syndrome type A and xeroderma pigmentosum group C subjects. (15744458)
2005
20
The gene expression and deficiency phenotypes of Cockayne syndrome B protein in Caenorhabditis elegans. (12095617)
2002
21
Phenotypic consequences of mutations in the conserved motifs of the putative helicase domain of the human Cockayne syndrome group B gene. (11867210)
2002
22
UVB radiation-induced cancer predisposition in Cockayne syndrome group A (Csa) mutant mice. (12509261)
2002
23
Early postnatal ataxia and abnormal cerebellar development in mice lacking Xeroderma pigmentosum Group A and Cockayne syndrome Group B DNA repair genes. (11687625)
2001
24
Manitoba aboriginal kindred with original cerebro-oculo-facio- skeletal syndrome has a mutation in the Cockayne syndrome group B (CSB) gene. (10739753)
2000
25
Cockayne syndrome and xeroderma pigmentosum. (11185579)
2000
26
Cockayne syndrome. (11310397)
2000
27
The relationship between benzo[a]pyrene-induced mutagenesis and carcinogenesis in repair-deficient Cockayne syndrome group B mice. (11059760)
2000
28
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
29
Biochemical and biological characterization of wild-type and ATPase-deficient Cockayne syndrome B repair protein. (9565609)
1998
30
Defective transcription-coupled repair in Cockayne syndrome B mice is associated with skin cancer predisposition. (9150142)
1997
31
Rodent complementation group 8 (ERCC8) corresponds to Cockayne syndrome complementation group A. (8596535)
1996
32
Cockayne syndrome: review of 25 cases. (8972530)
1996
33
Impaired jun-NH2-terminal kinase activation by ultraviolet irradiation in fibroblasts of patients with Cockayne syndrome complementation group B. (8780897)
1996
34
Somatic cell mutation frequency at the HPRT, T-cell antigen receptor and glycophorin A loci in Cockayne syndrome. (7596357)
1995
35
Cockayne syndrome: a case report. (7810287)
1994
36
Cockayne syndrome: a case with hyperinsulinemia and growth hormone deficiency. (8068222)
1994
37
Essential role of polyamines in restoration of DNA synthesis after UV radiation and expression of UV resistance in Cockayne syndrome cells. (7802627)
1994
38
Ultraviolet-induced mutations in Cockayne syndrome cells are primarily caused by cyclobutane dimer photoproducts while repair of other photoproducts is normal. (8346243)
1993
39
Cockayne Syndrome (20301516)
1993
40
Ocular findings in Cockayne syndrome. (1443019)
1992
41
MRI in Cockayne syndrome type I. (2779780)
1989
42
Cockayne syndrome: MRI correlates of hypomyelination. (3242508)
1988
43
Cockayne syndrome: magnetic resonance images of the brain in a severe form with early onset. (3128691)
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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Expression for genes affiliated with Cockayne Syndrome

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Expression patterns in normal tissues for genes affiliated with Cockayne Syndrome

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Pathways for genes affiliated with Cockayne Syndrome

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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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Compounds related to Cockayne Syndrome according to GeneCards/GeneDecks:

(show all 29)
idCompoundScoreTop Affiliating Genes
1ecteinascidin 7434410.0ERCC2, ERCC5
28-hydroxyadenine4410.0ERCC6, OGG1
38-hydroxyguanine4410.0OGG1, ERCC6
48-oxoguanine449.9ERCC6, OGG1
5cotinine44 2410.8OGG1, ERCC2
6platinum compounds509.7ERCC1, ERCC2
7thymine glycol449.7ERCC5, ERCC6, OGG1
8vinorelbine44 50 1111.6ERCC2, ERCC1
9thymine44 2410.6XPC, OGG1
10bcnu449.6ERCC1, ERCC2
112-acetylaminofluorene449.5XPA, XPC
12platinum44 5010.5ERCC1, ERCC2, ERCC5
13fluorouracil50 1110.5ERCC2, ERCC1
14phosphodiester449.5OGG1, ERCC3, ERCC5
15cpds449.4ERCC3, XPA
16leucovorin44 50 1111.4ERCC1, ERCC2
17thymidylate449.3ERCC2, ERCC4, ERCC1
18cyclophosphamide44 50 1111.3ERCC1, ERCC4, ERCC2
195fluorouracil449.2ERCC1, ERCC4, ERCC2
20cadmium44 2410.1OGG1, XPA
21oxaliplatin44 50 1111.0ERCC1, ERCC2, XPA
22benzo(a)pyrene449.0ERCC1, XPA, XPC
23psoralen449.0XPA, ERCC4, ERCC1
24mitomycin c448.9XPA, ERCC4, ERCC1
25melphalan44 50 1110.9ERCC2, ERCC4, ERCC1, ERCC3
26thymidine44 249.6OGG1, ERCC1, ERCC4
27oligonucleotide448.1XPC, XPA, ERCC5, ERCC1, OGG1
28atp44 288.9XPC, XPA, ERCC5, ERCC3, ERCC6, OGG1
29cisplatin44 50 61 1110.3ERCC3, XPC, XPA, ERCC5, ERCC2, ERCC4

GO Terms for genes affiliated with Cockayne Syndrome

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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:0056759.3ERCC5, ERCC2, ERCC3
4nucleotide-excision repair complexGO:0001099.2ERCC4, ERCC8, ERCC1
5nuclear chromosome, telomeric regionGO:0007849.1ERCC1, ERCC4
6nucleolusGO:0057306.9XPC, XPA, ERCC5, ERCC1, ERCC3, ERCC6
7nucleoplasmGO:0056546.0OGG1, XPC, XPA, ERCC5, ERCC2, ERCC4
8nucleusGO:0056345.9XPC, XPA, ERCC5, ERCC2, ERCC4, ERCC8

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

(show all 28)
idNameGO IDScoreTop Affiliating Genes
1response to UV-BGO:01022410.0ERCC6, XPC
2hair cell differentiationGO:0353159.9ERCC2, ERCC3
3transcription elongation from RNA polymerase I promoterGO:0063629.8ERCC3, ERCC2
4termination of RNA polymerase I transcriptionGO:0063639.8ERCC3, ERCC2
5transcription initiation from RNA polymerase I promoterGO:0063619.8ERCC2, ERCC3
6transcription from RNA polymerase I promoterGO:0063609.8ERCC3, ERCC2
7base-excision repairGO:0062849.7ERCC6, OGG1
87-methylguanosine mRNA cappingGO:0063709.7ERCC3, ERCC2
9nucleotide-excision repair, DNA incision, 5-to lesionGO:0062969.7ERCC1, ERCC4
10negative regulation of telomere maintenanceGO:0322059.7ERCC1, ERCC4
11positive regulation of viral transcriptionGO:0504349.6ERCC3, ERCC2
12response to X-rayGO:0101659.5ERCC8, ERCC1, ERCC6
13regulation of mitotic cell cycle phase transitionGO:19019909.5XPC, ERCC2, ERCC3
14nucleotide-excision repair, DNA incisionGO:0336839.4ERCC2, ERCC4, ERCC3
15nucleotide-excision repair, DNA incision, 3-to lesionGO:0062959.4ERCC1, ERCC4, ERCC5
16intrinsic apoptotic signaling pathway in response to DNA damageGO:0086309.3ERCC6, XPA
17response to toxic substanceGO:0096369.3ERCC6, XPA
18transcription elongation from RNA polymerase II promoterGO:0063689.3ERCC3, ERCC2
19transcription from RNA polymerase II promoterGO:0063669.2ERCC2, ERCC3, ERCC6
20DNA catabolic process, endonucleolyticGO:0007378.9ERCC5, ERCC4, ERCC1, OGG1
21multicellular organism growthGO:0352648.6ERCC6, ERCC1, ERCC2, XPA
22UV protectionGO:0096508.5ERCC5, ERCC2, ERCC4, ERCC1, ERCC3
23response to UVGO:0094118.1XPA, ERCC5, ERCC4, ERCC8, ERCC3, ERCC6
24transcription-coupled nucleotide-excision repairGO:0062837.9ERCC1, ERCC3, ERCC6, ERCC8, ERCC4, ERCC5
25response to oxidative stressGO:0069797.4XPA, ERCC2, ERCC8, ERCC1, ERCC3, ERCC6
26nucleotide-excision repair, DNA damage removalGO:0007187.3XPC, XPA, ERCC5, ERCC2, ERCC4, ERCC1
27nucleotide-excision repairGO:0062896.1XPC, OGG1, XPA, ERCC5, ERCC2, ERCC4
28DNA repairGO:0062816.1ERCC5, ERCC2, ERCC4, ERCC8, ERCC1, ERCC3

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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3CDC
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25ICD10
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