MCID: CCK001
MIFTS: 72

Cockayne Syndrome malady

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

Summaries for Cockayne Syndrome

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NIH Rare Diseases:43 Cockayne syndrome is a rare condition which causes short stature, premature aging (progeria), severe photosensitivity, and moderate to severe learning delay. this syndrome also includes failure to thrive in the neonate, microcephaly, and impaired nervous system development. other symptoms may include hearing loss, tooth decay, and eye and bone abnormalities.  cockayne syndrome type 1 (type a) is sometimes called “classic” cockayne syndrome and is diagnosed during early childhood. cockayne syndrome type 2 (type b) is sometimes referred to as the “connatal” type. this type is a more severe form in which growth and developmental abnormalities are present at birth. the third type, cockayne syndrome type 3 (type c) is a milder form of the disorder. cockayne syndrome is caused by mutations ineither the ercc8 (csa) or ercc6 (csb) genes and is inherited in an autosomal recessive pattern. individuals with type 1 or 2 usually do not survive past childhood, whereas those with type 3 live into adulthood. last updated: 5/31/2011

MalaCards based summary: Cockayne Syndrome, also known as dwarfism-retinal atrophy-deafness syndrome, is related to trichothiodystrophy and xeroderma pigmentosum, group d, and has symptoms including microcephaly, abnormality of the nose and macrotia. 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 Cell Cycle / Checkpoint Control. The compounds ecteinascidin 743 and 8-hydroxyadenine have been mentioned in the context of this disorder. Affiliated tissues include eye, brain and bone, and related mouse phenotypes are adipose tissue and vision/eye.

Disease Ontology:10 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:23 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 (CS) (also called Weber-Cockayne syndrome, or Neill-Dingwall syndrome) is a rare... more...

GeneReviews summary for cockayne

Aliases & Classifications for Cockayne Syndrome

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Sources:
10Disease Ontology, 65Wikipedia, 21GeneReviews, 43NIH Rare Diseases, 23Genetics Home Reference, 12DISEASES, 45Novoseek, 49Orphanet, 62UMLS, 22GeneTests, 57SNOMED-CT, 35MeSH, 40NCIt, 29ICD9CM, 28ICD10 via Orphanet, 63UMLS via Orphanet, 36MESH via Orphanet
See all sources

Cockayne Syndrome, Aliases & Descriptions:

Name: Cockayne Syndrome 10 65 21 43 23 12 45 49 62
Dwarfism-Retinal Atrophy-Deafness Syndrome 65 43 23 62
Progeroid Nanism 65 43 23 62
Progeria-Like Syndrome 65 43 23
 
Neill-Dingwall Syndrome 65 62
Cockayne's Syndrome 43 22
Cs 65 23
Opitz Trigonocephaly Syndrome 62


Classifications:



Characteristics (Orphanet epidemiological data):

49
cockayne syndrome:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: All ages; Age of death: any age


External Ids:

Disease Ontology10 DOID:2962
MeSH35 D003057
NCIt40 C9460
ICD9CM29 759.8
SNOMED-CT57 21086008, 205832003
Orphanet49 191
ICD10 via Orphanet28 Q87.1
UMLS via Orphanet63 C0009207
MESH via Orphanet36 D003057

Related Diseases for Cockayne Syndrome

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Diseases in the Cockayne Syndrome family:

Cockayne Syndrome, Type a Cockayne Syndrome, Type B
Cockayne Syndrome Type I Cockayne Syndrome Type Ii
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 120)
idRelated DiseaseScoreTop Affiliating Genes
1trichothiodystrophy30.7ERCC3, ERCC2
2xeroderma pigmentosum, group d30.3ERCC3, ERCC2
3lung cancer30.0ERCC1, OGG1, ERCC2, XPC
4testicular cancer29.9ERCC1, ERCC2
5leukemia29.8DNASE1, HPRT1, NR1H2, ERCC2, ERCC3, OGG1
6cockayne syndrome type ii10.6
7cockayne syndrome type i10.6
8cockayne syndrome, type a10.6
9cockayne syndrome type iii10.6
10xeroderma pigmentosum, group g10.5
11xeroderma pigmentosum-cockayne syndrome complex10.4
12cockayne syndrome, type b10.4
13uv-sensitive syndrome10.4
14neuropathy10.3
15xeroderma pigmentosum, group a10.3
16xeroderma pigmentosum, group f10.3
17neuronitis10.3
18progeria10.3
19cushing's syndrome10.3
20endocarditis10.3
21malaria10.2
22xeroderma pigmentosum, group c10.2
23cerebritis10.2
24ischemia10.2
25peripheral neuropathy10.2
26neurologic diseases10.2
27cerebro-oculo-facio-skeletal syndrome10.2
28ercc8-related cockayne syndrome10.2
29ercc6-related cockayne syndrome10.2
30ataxia10.2
31calciphylaxis10.2
32wolff-parkinson-white syndrome10.1
33cowden syndrome 110.1
34amyotrophic lateral sclerosis 110.1
35dilated cardiomyopathy10.1
36cowden disease10.1
37leber hereditary optic neuropathy10.1
38critical illness polyneuropathy10.1
39poliomyelitis10.1
40mitochondrial cardiomyopathy10.1
41uv-sensitive syndrome 110.1ERCC6
42uv-sensitive syndrome 210.0
43tetralogy of fallot10.0
44pfeiffer syndrome10.0
45ataxia-telangiectasia10.0
46xeroderma pigmentosum, group b10.0
47epidermolysis bullosa simplex, weber-cockayne type10.0
48cataract10.0
49thrombocytopenia10.0
50generalized dystonia10.0

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



Diseases related to cockayne syndrome

Symptoms for Cockayne Syndrome

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Symptoms:

 49 (show all 61)
  • microcephaly
  • deepset eyes/enophthalmos
  • retinopathy
  • anomalies of nose and olfaction
  • multiple caries
  • long/large ear
  • sensorineural deafness/hearing loss
  • skin photosensitivity
  • vesicles/bullous/exsudative lesions/bullous/cutaneous/mucosal detachment
  • peripheral neuropathy
  • ataxia/incoordination/trouble of the equilibrium
  • hypertonia/spasticity/rigidity/stiffness
  • hypereflexia
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • autosomal recessive inheritance
  • short stature/dwarfism/nanism
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • premature ageing
  • dental malocclusion
  • retinal/chorioretinal dysplasia/dystrophy
  • strabismus/squint
  • hearing loss/hypoacusia/deafness
  • kyphosis
  • long limbs/dolichostenomelia
  • large hand
  • foot anomalies
  • skin hypoplasia/aplasia/atrophy
  • abnormal scarring/cheloids/hypertrophic scars
  • erythema/erythematous lesions/erythroderma/polymorphous erythema
  • diffuse/generalised skin hyperpigmentation/melanoderma
  • hypotrichosis/atrichia/atrichiasis/scalp hairlessness
  • fine hair
  • chronic arterial hypertension
  • renal/kidney anomalies
  • cortical atrophy without hydrocephaly/cerebral hemiatrophy/subcortical atrophy
  • intracranial/cerebral calcifications
  • nerve conduction abnormality
  • eeg anomalies
  • movement disorder
  • tremor
  • restricted joint mobility/joint stiffness/ankylosis
  • early death/lethality
  • anophthalmos/anophthalmia/microphthalmos/microphthalmia
  • cataract/lens opacification
  • retinitis pigmentosa/retinal pigmentary changes
  • optic nerve anomaly/optic atrophy/anomaly of the papilla
  • cleft lip and palate
  • high vaulted/narrow palate
  • delayed dentition/eruption of teeth/lack of eruption of teeth
  • breast tissue/mammary gland absence/aplasia
  • platyspondyly
  • pelvis anomaly/narrow/broad iliac wings/pubis abnormality
  • arthrogryposis
  • telangiectasiae of the skin
  • hair and scalp anomalies
  • cardiomyopathy/hypertrophic/dilated
  • renal glomerular defect/glomerulopathy
  • nephrotic syndrome
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • seizures/epilepsy/absences/spasms/status epilepticus
  • asthenia/fatigue/weakness

HPO human phenotypes related to Cockayne Syndrome:

(show all 52)
id Description Frequency HPO Source Accession
1 microcephaly hallmark (90%) HP:0000252
2 abnormality of the nose hallmark (90%) HP:0000366
3 macrotia hallmark (90%) HP:0000400
4 sensorineural hearing impairment hallmark (90%) HP:0000407
5 retinopathy hallmark (90%) HP:0000488
6 deeply set eye hallmark (90%) HP:0000490
7 carious teeth hallmark (90%) HP:0000670
8 cutaneous photosensitivity hallmark (90%) HP:0000992
9 hypertonia hallmark (90%) HP:0001276
10 hyperreflexia hallmark (90%) HP:0001347
11 incoordination hallmark (90%) HP:0002311
12 short stature hallmark (90%) HP:0004322
13 prematurely aged appearance hallmark (90%) HP:0007495
14 abnormal blistering of the skin hallmark (90%) HP:0008066
15 peripheral neuropathy hallmark (90%) HP:0009830
16 cognitive impairment hallmark (90%) HP:0100543
17 strabismus typical (50%) HP:0000486
18 chorioretinal abnormality typical (50%) HP:0000532
19 dental malocclusion typical (50%) HP:0000689
20 decreased nerve conduction velocity typical (50%) HP:0000762
21 hypertension typical (50%) HP:0000822
22 atypical scarring of skin typical (50%) HP:0000987
23 large hands typical (50%) HP:0001176
24 tremor typical (50%) HP:0001337
25 limitation of joint mobility typical (50%) HP:0001376
26 disproportionate tall stature typical (50%) HP:0001519
27 abnormality of the foot typical (50%) HP:0001760
28 cerebral cortical atrophy typical (50%) HP:0002120
29 fine hair typical (50%) HP:0002213
30 eeg abnormality typical (50%) HP:0002353
31 cerebral calcification typical (50%) HP:0002514
32 kyphosis typical (50%) HP:0002808
33 generalized hyperpigmentation typical (50%) HP:0007440
34 aplasia/hypoplasia of the skin typical (50%) HP:0008065
35 abnormal hair quantity typical (50%) HP:0011362
36 cryptorchidism occasional (7.5%) HP:0000028
37 nephrotic syndrome occasional (7.5%) HP:0000100
38 abnormality of the palate occasional (7.5%) HP:0000174
39 oral cleft occasional (7.5%) HP:0000202
40 cataract occasional (7.5%) HP:0000518
41 optic atrophy occasional (7.5%) HP:0000648
42 delayed eruption of teeth occasional (7.5%) HP:0000684
43 platyspondyly occasional (7.5%) HP:0000926
44 seizures occasional (7.5%) HP:0001250
45 hypertrophic cardiomyopathy occasional (7.5%) HP:0001639
46 abnormality of pelvic girdle bone morphology occasional (7.5%) HP:0002644
47 arthrogryposis multiplex congenita occasional (7.5%) HP:0002804
48 abnormal retinal pigmentation occasional (7.5%) HP:0007703
49 aplasia/hypoplasia affecting the eye occasional (7.5%) HP:0008056
50 teleangiectasia of the skin occasional (7.5%) HP:0100585
51 breast aplasia occasional (7.5%) HP:0100783
52 glomerulopathy occasional (7.5%) HP:0100820

Drugs & Therapeutics for Cockayne Syndrome

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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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Genetic tests related to Cockayne Syndrome:

id Genetic test Affiliating Genes
1 Cockayne Syndrome22 ERCC8

Anatomical Context for Cockayne Syndrome

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MalaCards organs/tissues related to Cockayne Syndrome:

33
Eye, Brain, Bone, Skin, Testes, Breast, B cells, Kidney, Lung, 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 352)
idTitleAuthorsYear
1
Dental Management of a 14-Year-Old with Cockayne Syndrome under General Anesthesia. (25574402)
2014
2
Melatonin alterations and brain acetylcholine lesions in sleep disorders in Cockayne syndrome. (24503446)
2014
3
Cockayne syndrome protein A is a transcription factor of RNA polymerase I and stimulates ribosomal biogenesis and growth. (24781187)
2014
4
From laboratory tests to functional characterisation of Cockayne syndrome. (23567079)
2013
5
Cockayne syndrome b maintains neural precursor function. (23245699)
2013
6
Tracking the Cognitive, Social, and Neuroanatomical Profile in Early Neurodegeneration: Type III Cockayne Syndrome. (24324434)
2013
7
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
8
Reciprocally regulated chromatin association of Cockayne syndrome protein B and p53 protein. (21852235)
2011
9
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
10
Testicular nuclear receptor 4 (TR4) regulates UV light-induced responses via Cockayne syndrome B protein-mediated transcription-coupled DNA repair. (21918225)
2011
11
Cockayne syndrome B protein (CSB): linking p53, HIF-1 and p300 to robustness, lifespan, cancer and cell fate decisions. (19221478)
2009
12
A novel DNA repair disorder with thrombocytopenia, nephrosis and features overlapping Cockayne syndrome. (19760648)
2009
13
Perioperative management of patients with Cockayne syndrome - recognition of accelerated aging with growth arrest. (18315666)
2008
14
Activation of RNA polymerase I transcription by cockayne syndrome group B protein and histone methyltransferase G9a. (17707230)
2007
15
The current evidence for defective repair of oxidatively damaged DNA in Cockayne syndrome. (17603927)
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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Clinvar genetic disease variations for Cockayne Syndrome:

7 (show all 13)
id Gene Variation Type Significance SNP ID Assembly Location
1NM_000124.3(ERCC6): c.543+4delAdeletionPathogenicGRCh37Chr 10, 50738762: 50738762
2ERCC6NM_000124.3(ERCC6): c.1550G> A (p.Trp517Ter)single nucleotide variantPathogenicrs121917900GRCh37Chr 10, 50708719: 50708719
3ERCC6ERCC6, 1-BP DEL, 1597GdeletionPathogenic
4NM_000124.3(ERCC6): c.1357C> T (p.Arg453Ter)single nucleotide variantPathogenicrs121917902GRCh37Chr 10, 50732119: 50732119
5NM_000124.3(ERCC6): c.972dupA (p.Glu325Argfs)duplicationPathogenicrs387906262GRCh37Chr 10, 50732503: 50732504
6ERCC6ERCC6, 4-BP INS, 1053TGTCinsertionPathogenic
7ERCC6NM_000124.3(ERCC6): c.3284C> G (p.Pro1095Arg)single nucleotide variantPathogenicrs4253208GRCh37Chr 10, 50678722: 50678722
8ERCC6ERCC6, 1-BP INS, 1034TinsertionPathogenic
9ERCC8ERCC8, 279-BP DEL, 81-BP DELdeletionPathogenic
10ERCC8NM_000082.3(ERCC8): c.966C> A (p.Tyr322Ter)single nucleotide variantPathogenicrs121434323GRCh37Chr 5, 60186791: 60186791
11ERCC8NM_000082.3(ERCC8): c.37G> T (p.Glu13Ter)single nucleotide variantPathogenicrs121434324GRCh37Chr 5, 60240799: 60240799
12ERCC8NM_000082.3(ERCC8): c.479C> T (p.Ala160Val)single nucleotide variantPathogenicrs121434325GRCh37Chr 5, 60200621: 60200621
13ERCC8NM_000082.3(ERCC8): c.613G> C (p.Ala205Pro)single nucleotide variantPathogenicrs121434326GRCh37Chr 5, 60198273: 60198273

Expression for genes affiliated with Cockayne Syndrome

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Search GEO for disease gene expression data for Cockayne Syndrome.

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
9.8ERCC1, ERCC4
2
Show member pathways
9.2ERCC2, ERCC1, ERCC3, XPC
39.1XPC, ERCC2, ERCC3, XPA
4
Show member pathways
9.1POLR1C, ERCC6, ERCC3, ERCC2
5
Show member pathways
9.1ERCC6, ERCC3, ERCC2, POLR1C
6
Show member pathways
8.5ERCC2, ERCC6, ERCC3, NR1H2, POLR1C
7
Show member pathways
7.9POLR1C, ERCC5, ERCC2, ERCC4, ERCC1, ERCC3
8
Show member pathways
7.7ERCC3, ERCC1, ERCC8, ERCC4, ERCC2, XPA
9
Show member pathways
7.2XPA, XPC, OGG1, ERCC6, ERCC3, ERCC1

Compounds for genes affiliated with Cockayne Syndrome

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Compounds related to Cockayne Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 55)
idCompoundScoreTop Affiliating Genes
1ecteinascidin 7434510.3ERCC5, ERCC2
28-hydroxyadenine4510.2ERCC6, OGG1
3platinum compounds5110.1ERCC1, ERCC2
48-hydroxyguanine4510.1OGG1, ERCC6
52-acetylaminofluorene4510.1XPC, XPA
6cpds4510.1XPA, ERCC3
7platinum45 5111.0ERCC1, ERCC2, ERCC5
8thymine glycol459.9OGG1, ERCC6, ERCC5
9cotinine45 2610.9OGG1, ERCC2
10vinorelbine45 51 1311.9ERCC2, ERCC1
11n-acetoxy-2-acetylaminofluorene459.9ERCC1, HPRT1
12ethylene oxide459.8HPRT1, OGG1
13irinotecan45 51 1311.7ERCC1, ERCC2, NR1H2
14deoxyguanosine45 2610.7OGG1, HPRT1
15melphalan45 51 1311.6ERCC2, ERCC4, ERCC1, ERCC3
166 mercaptopurine459.6NR1H2, HPRT1
178-oxoguanine459.6HPRT1, ERCC6, OGG1
18bcnu459.5ERCC1, ERCC2
19purine nucleoside459.4HPRT1, OGG1
205fluorouracil459.4ERCC1, ERCC4, ERCC2
21dimethyl sulfate459.4DNASE1, HPRT1
22hpaii459.3DNASE1, HPRT1
23iodoacetate459.3DNASE1, HPRT1
24thymidylate459.3ERCC1, ERCC4, ERCC2, HPRT1
25cyclophosphamide45 51 1311.3HPRT1, ERCC2, ERCC4, ERCC1
26glycerol45 26 1311.3ERCC1, NR1H2, POLR1C
27oxaliplatin45 51 1311.2ERCC1, ERCC2, XPA, HPRT1
28benzo(a)pyrene459.2HPRT1, XPC, XPA, ERCC1
29methotrexate51 45 1311.1HPRT1, NR1H2, ERCC2, ERCC1
30aphidicolin459.0DNASE1, HPRT1
31folate459.0HPRT1, NR1H2, ERCC2, OGG1
32hypoxanthine45 26 1311.0OGG1, DNASE1, HPRT1
33purine45 269.9OGG1, DNASE1, HPRT1
34adenine45 26 1310.9HPRT1, DNASE1, OGG1
35formaldehyde45 269.8NR1H2, DNASE1, HPRT1
365-aza-2deoxycytidine458.8HPRT1, DNASE1, NR1H2
37dmso458.8HPRT1, DNASE1, OGG1
38thymine45 269.7HPRT1, DNASE1, XPC, OGG1
39guanine45 26 1310.7OGG1, DNASE1, HPRT1
40phosphodiester458.5OGG1, ERCC3, ERCC5, DNASE1, POLR1C
41h2o2458.5HPRT1, DNASE1, ERCC6, OGG1
42psoralen458.4HPRT1, DNASE1, XPA, ERCC4, ERCC1
43mitomycin c458.4HPRT1, DNASE1, XPA, ERCC4, ERCC1
44atp45 309.4POLR1C, XPC, XPA, ERCC5, ERCC3, ERCC6
45magnesium45 26 1310.3POLR1C, HPRT1, DNASE1, ERCC2, ERCC4
46thymidine45 269.3HPRT1, DNASE1, ERCC4, ERCC1, OGG1
47oligonucleotide458.3DNASE1, XPC, XPA, ERCC5, ERCC1, OGG1
48zinc45 269.1POLR1C, DNASE1, NR1H2, XPA, OGG1
49glutamate457.8OGG1, ERCC6, XPA, NR1H2, DNASE1, HPRT1
50cisplatin45 51 61 139.7ERCC3, POLR1C, HPRT1, DNASE1, XPC, XPA

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:00004419.8ERCC2, ERCC3
2transcription factor TFIID complexGO:00056699.8ERCC1, ERCC4
3holo TFIIH complexGO:00056759.7ERCC5, ERCC2, ERCC3
4nucleotide-excision repair complexGO:00001099.7ERCC1, ERCC8, ERCC4
5nuclear chromosome, telomeric regionGO:00007849.5ERCC1, ERCC4
6nucleolusGO:00057308.0XPC, XPA, ERCC5, ERCC1, ERCC3, ERCC6
7nucleusGO:00056346.8NR1H2, XPC, XPA, ERCC5, ERCC2, ERCC4
8nucleoplasmGO:00056546.4OGG1, POLR1C, NR1H2, XPC, XPA, ERCC5

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

(show all 26)
idNameGO IDScoreTop Affiliating Genes
1response to UV-BGO:001022410.0ERCC6, XPC
2hair cell differentiationGO:003531510.0ERCC3, ERCC2
3nucleotide-excision repair, DNA incision, 5-to lesionGO:000629610.0ERCC1, ERCC4
4negative regulation of telomere maintenanceGO:003220510.0ERCC4, ERCC1
5response to X-rayGO:00101659.9ERCC6, ERCC1, ERCC8
6regulation of mitotic cell cycle phase transitionGO:019019909.9XPC, ERCC2, ERCC3
77-methylguanosine mRNA cappingGO:00063709.8ERCC3, ERCC2
8positive regulation of viral transcriptionGO:00504349.8ERCC3, ERCC2
9nucleotide-excision repair, DNA incision, 3-to lesionGO:00062959.8ERCC5, ERCC4, ERCC1
10nucleotide-excision repair, DNA incisionGO:00336839.8ERCC2, ERCC4, ERCC3
11transcription elongation from RNA polymerase I promoterGO:00063629.6POLR1C, ERCC2, ERCC3
12termination of RNA polymerase I transcriptionGO:00063639.6ERCC3, ERCC2, POLR1C
13transcription initiation from RNA polymerase I promoterGO:00063619.6POLR1C, ERCC2, ERCC3
14transcription from RNA polymerase I promoterGO:00063609.5ERCC3, ERCC2, POLR1C
15base-excision repairGO:00062849.5OGG1, ERCC6
16multicellular organism growthGO:00352649.4XPA, ERCC2, ERCC1, ERCC6
17transcription initiation from RNA polymerase II promoterGO:00063679.4NR1H2, ERCC2, ERCC3
18DNA catabolic process, endonucleolyticGO:00007379.4OGG1, ERCC1, ERCC4, ERCC5
19UV protectionGO:00096509.2ERCC3, ERCC1, ERCC4, ERCC2, ERCC5
20response to UVGO:00094119.0XPA, ERCC5, ERCC4, ERCC8, ERCC3, ERCC6
21transcription-coupled nucleotide-excision repairGO:00062838.8ERCC5, ERCC6, ERCC3, ERCC1, ERCC8, ERCC4
22gene expressionGO:00104678.7POLR1C, NR1H2, ERCC2, ERCC3
23nucleotide-excision repair, DNA damage removalGO:00007188.5ERCC3, ERCC1, ERCC4, ERCC2, ERCC5, XPA
24response to oxidative stressGO:00069798.5XPA, ERCC2, ERCC8, ERCC1, ERCC3, ERCC6
25nucleotide-excision repairGO:00062897.6XPA, XPC, ERCC5, ERCC2, ERCC4, ERCC8
26DNA repairGO:00062817.6OGG1, ERCC6, ERCC3, ERCC1, ERCC8, ERCC4

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

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1bubble DNA bindingGO:000040510.1ERCC5, XPC
2TFIID-class transcription factor bindingGO:000109410.0ERCC4, ERCC1
3endodeoxyribonuclease activityGO:000452010.0ERCC5, ERCC4
4single-stranded DNA endodeoxyribonuclease activityGO:000001410.0ERCC1, ERCC4
5DNA helicase activityGO:000367810.0ERCC6, ERCC8
6structure-specific DNA bindingGO:00435669.9ERCC4, ERCC1
7RNA polymerase II carboxy-terminal domain kinase activityGO:00083539.9ERCC3, ERCC2
8ATP-dependent DNA helicase activityGO:00040039.7ERCC2, ERCC3
9DNA-dependent ATPase activityGO:00080949.6ERCC2, ERCC8, ERCC3, ERCC6
10endonuclease activityGO:00045199.5OGG1, ERCC5
11single-stranded DNA bindingGO:00036979.5ERCC1, ERCC4, ERCC5, XPC
12protein N-terminus bindingGO:00474859.3ERCC5, ERCC2, ERCC4, ERCC3, ERCC6
13protein C-terminus bindingGO:00080229.2ERCC2, ERCC4, ERCC1, ERCC3, ERCC6
14damaged DNA bindingGO:00036848.6OGG1, ERCC3, ERCC1, ERCC4, XPA, XPC
15DNA bindingGO:00036778.5ERCC6, ERCC3, ERCC2, NR1H2, POLR1C
16protein bindingGO:00055155.5HPRT1, DNASE1, NR1H2, XPC, XPA, ERCC5

Products for genes affiliated with Cockayne Syndrome

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  • Antibodies
  • Proteins
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Sources for Cockayne Syndrome

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet