MCID: CCK001
MIFTS: 58

Cockayne Syndrome malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Ear diseases, Skin diseases, Fetal diseases

Aliases & Classifications for Cockayne Syndrome

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Sources:
11Disease Ontology, 69Wikipedia, 22GeneReviews, 46NIH Rare Diseases, 23GeneTests, 24Genetics Home Reference, 13DISEASES, 52Orphanet, 48Novoseek, 37MeSH, 66UMLS, 25GTR, 28ICD10, 43NCIt, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 60SNOMED-CT
See all MalaCards sources

Aliases & Descriptions for Cockayne Syndrome:

Name: Cockayne Syndrome 11 69 22 46 23 24 13 52 48 37 66
Cockayne's Syndrome 11 46 25
Dwarfism-Retinal Atrophy-Deafness Syndrome 46 24
Dwarfism with Retinal Atrohpy and Deafness 23
 
Deafness-Dwarfism-Retinal Atrophy 23
Progeria-Like Syndrome 46
Progeroid Nanism 46
Cs 24

Characteristics:

Orphanet epidemiological data:

52
cockayne syndrome:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: All ages; Age of death: any age

Classifications:



External Ids:

Disease Ontology11 DOID:2962
ICD1028 Q87.1
MeSH37 D003057
NCIt43 C9460
SNOMED-CT60 205832003, 21086008
Orphanet52 ORPHA191
ICD10 via Orphanet29 Q87.1
MESH via Orphanet38 D003057
UMLS via Orphanet67 C0009207

Summaries for Cockayne Syndrome

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NIH Rare Diseases:46 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 newborn, 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” or "moderate" cockayne syndrome and is diagnosed during early childhood. cockayne syndrome type 2 (type b) is sometimes referred to as the “severe” or "early-onset" type. this more severe form presents with growth and developmental abnormalities at birth. the third type, cockayne syndrome type 3 (type c) is a milder form of the disorder. cockayne syndrome is caused by mutations in either the ercc8 (csa) or ercc6 (csb) genes and is inherited in an autosomal recessive pattern. the typical lifespan for individuals with cockayne syndrome type 1 is ten to twenty years. individuals with type 2 usually do not survive past childhood. those with type 3 live into middle adulthood. last updated: 10/26/2015

MalaCards based summary: Cockayne Syndrome, also known as cockayne's syndrome, is related to cockayne syndrome type iii and xeroderma pigmentosum, group b, and has symptoms including microcephaly, abnormality of the nose and macrotia. An important gene associated with Cockayne Syndrome is ERCC8 (ERCC Excision Repair 8, CSA Ubiquitin Ligase Complex Subunit), and among its related pathways are Cyclophosphamide Pathway, Pharmacodynamics and RNA Polymerase I Promoter Escape. Affiliated tissues include eye, skin and brain, and related mouse phenotypes are liver/biliary system and vision/eye.

Disease Ontology:11 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:24 Cockayne syndrome is a rare disorder characterized by an abnormally small head size (microcephaly), a failure to gain weight and grow at the expected rate (failure to thrive) leading to very short stature, and delayed development. The signs and symptoms of this condition are usually apparent from infancy, and they worsen over time. Most affected individuals have an increased sensitivity to sunlight (photosensitivity), and in some cases even a small amount of sun exposure can cause a sunburn or blistering of the skin. Other signs and symptoms often include hearing loss, vision loss, severe tooth decay, bone abnormalities, hands and feet that are cold all the time, and changes in the brain that can be seen on brain scans.

Wikipedia:69 Cockayne syndrome (CS), also called Neill-Dingwall syndrome, is a rare fatal autosomal recessive... more...

GeneReviews summary for NBK1342

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 Ii Cockayne Syndrome Type I
Cockayne Syndrome Type Iii Ercc6-Related Cockayne Syndrome
Ercc8-Related Cockayne Syndrome

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

(show top 50)    (show all 77)
idRelated DiseaseScoreTop Affiliating Genes
1cockayne syndrome type iii33.9ERCC1, ERCC6, ERCC8
2xeroderma pigmentosum, group b32.3ERCC2, ERCC3
3uv-sensitive syndrome 230.6ERCC6, ERCC8
4cerebrooculofacioskeletal syndrome 130.5ERCC6, ERCC8
5cerebrooculofacioskeletal syndrome 230.1ERCC2, ERCC3, XPC
6xeroderma pigmentosum, group c29.8DDB2, ERCC5, XPC
7cockayne syndrome type ii12.2
8cockayne syndrome type i12.2
9cockayne syndrome, type a12.2
10cockayne syndrome, type b12.1
11xeroderma pigmentosum-cockayne syndrome complex12.0
12ercc6-related cockayne syndrome11.9
13ercc8-related cockayne syndrome11.9
14xeroderma pigmentosum, group g11.4
15xeroderma pigmentosum, group f11.4
16epidermolysis bullosa simplex, weber-cockayne type11.0
17progeroid short stature with pigmented nevi10.8
18cone-rod dystrophy x-linked 210.6ERCC6, ERCC8
19xeroderma pigmentosum, group d10.5
20may-thurner syndrome10.4ERCC4, ERCC6, ERCC8
21cerebro-oculo-facio-skeletal syndrome10.4
22de sanctis-cacchione syndrome10.4ERCC2, ERCC5, ERCC6
23acrodermatitis enteropathica10.2ERCC1, ERCC2, ERCC3
24asthenopia10.2ERCC2, XPA
253-methylglutaconic aciduria, type i10.1ERCC4, XPA, XPC
26combined hyperactive dysfunction syndrome of the cranial nerves10.1ERCC2, ERCC3, ERCC4, ERCC5
27uv-sensitive syndrome10.1
28neuronitis10.1
29myasthenia gravis, limb-girdle10.1ERCC2, XPA, XPC
30stroma-dominant and stroma-poor composite ganglioneuroblastoma10.0ERCC2, OGG1
31neuropathy10.0
32pancreatic cystadenoma10.0ERCC1, ERCC4, XPA
33autosomal genetic disease10.0ERCC2, ERCC3, XPA
34cerebrooculofacioskeletal syndrome 310.0
35fanconi anemia, complementation group q10.0ERCC1, ERCC4, OGG1
36gynecomastia10.0ERCC5, OGG1
37xeroderma pigmentosum, group a10.0
38progeria10.0
39lymphoplasmacytic lymphoma9.9ERCC2, ERCC3, ERCC5, XPA
40exostoses, multiple, type 29.9DDB1, DDB2, XPC
41nephrotic syndrome9.9
42ischemia9.9
43cerebritis9.9
44retinitis9.9
45ataxia9.9
46cerebrooculofacioskeletal syndrome 49.9
47cataract-microcephaly-failure to thrive-kyphoscoliosis9.9
48lung cancer9.7
49tetralogy of fallot9.7
50pfeiffer syndrome9.7

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:

 52 (show all 62)
  • cryptorchidism
  • abnormality of the kidney
  • nephrotic syndrome
  • abnormality of the palate
  • oral cleft
  • microcephaly
  • hearing impairment
  • abnormality of the nose
  • macrotia
  • sensorineural hearing impairment
  • strabismus
  • retinopathy
  • deeply set eye
  • cataract
  • chorioretinal abnormality
  • microphthalmos
  • optic atrophy
  • carious teeth
  • delayed eruption of teeth
  • decreased nerve conduction velocity
  • hypertension
  • platyspondyly
  • atypical scarring of skin
  • cutaneous photosensitivity
  • prominent superficial veins
  • large hands
  • intellectual disability
  • seizures
  • ataxia
  • spasticity
  • mental deterioration
  • tremor
  • hyperreflexia
  • joint stiffness
  • failure to thrive in infancy
  • abnormality of the hair
  • hypertrophic cardiomyopathy
  • abnormality of the foot
  • cerebral cortical atrophy
  • fine hair
  • eeg abnormality
  • cerebral calcification
  • abnormality of pelvic girdle bone morphology
  • arthrogryposis multiplex congenita
  • kyphosis
  • short stature
  • abnormality of the sense of smell
  • generalized hyperpigmentation
  • prematurely aged appearance
  • abnormal retinal pigmentation
  • aplasia/hypoplasia of the skin
  • abnormal blistering of the skin
  • sparse hair
  • peripheral neuropathy
  • erythema
  • open bite
  • feeding difficulties
  • fatigue
  • abnormality of movement
  • teleangiectasia of the skin
  • breast aplasia
  • glomerulopathy

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 abnormality of retinal pigmentation occasional (7.5%) HP:0007703
49 aplasia/hypoplasia affecting the eye occasional (7.5%) HP:0008056
50 telangiectasia of the skin occasional (7.5%) HP:0100585
51 breast aplasia occasional (7.5%) HP:0100783
52 glomerulopathy occasional (7.5%) HP:0100820

UMLS symptoms related to Cockayne Syndrome:


hyperexplexia

Drugs & Therapeutics for Cockayne Syndrome

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Drugs for Cockayne Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
MannitolPhase 1, Phase 225769-65-8453, 6251
Synonyms:
(2R,3R,4R,5R)-Hexane-1,2,3,4,5,6-hexaol
(2R,3R,4R,5R)-Hexane-1,2,3,4,5,6-hexol
(2R,3R,4R,5R)-hexane-1,2,3,4,5,6-hexol
(L)-Mannitol
1,2,3,4,5,6-Hexanehexol
123897-58-5
133-43-7
15719_ALDRICH
15719_RIEDEL
33440_RIEDEL
33440_SIGMA
36413-61-3
4-01-00-02841 (Beilstein Handbook Reference)
5149-40-6
63559_FLUKA
63559_SIGMA
63560_FLUKA
63565_FLUKA
63565_SIGMA
69-65-8
75398-80-0
85085-15-0
87-78-5
AB1002081
AC-12776
AC1L1M49
AC1Q28E5
AI3-19511
AR-1J3861
Ambap69-65-8
BRN 1721898
C00392
C6H14O6
CCRIS 369
CHEBI:16899
CHEMBL689
CID6251
Cordycepate
Cordycepic acid
D-(-)-Mannitol
D-Mannitol
D-Mannitol (JP15)
D-mannite
D-mannitol
D00062
D008353
DL-Mannitol
Diosmol
ED1D1E61-FEFB-430A-AFDC-D1F4A957FC3D
EINECS 200-711-8
EINECS 201-770-2
Fraxinine
HSDB 714
Hexahydroxyhexane
Hexanhexol
Invenex
Isotol
LS-1588
LS-89250
M0044
M1902_SIGMA
M4125_SIAL
M8429_SIAL
M9546_SIAL
M9647_SIAL
MANNITOL 10% W/ DEXTROSE 5% IN DISTILLED WATER
MANNITOL 15% W/ DEXTROSE 5% IN SODIUM CHLORIDE 0.45%
 
MANNITOL 25%
MANNITOL 5% W/ DEXTROSE 5% IN SODIUM CHLORIDE 0.12%
MLS001335977
MLS001335978
MTL
Manicol
Manitol
Maniton S
Maniton-S
Manna Sugar
Manna sugar
Mannazucker
Mannidex
Mannidex 16700
Mannigen
Mannistol
Mannit
Mannit p
Mannite
Mannitol
Mannitol (USP)
Mannitol (VAN)
Mannitol 10%
Mannitol 10% In Plastic Container
Mannitol 15%
Mannitol 15% In Plastic Container
Mannitol 20%
Mannitol 20% In Plastic Container
Mannitol 5%
Mannitol 5% In Plastic Container
Mannitol [USAN]
Mannitolum
Mannogem 2080
Marine Crystal
Marine crystal
MolPort-003-927-039
Mushroom sugar
NCGC00164246-01
NCI-C50362
NSC 407017
NSC 9256
OSMITROL 10% IN WATER IN PLASTIC CONTAINER
OSMITROL 15% IN WATER IN PLASTIC CONTAINER
OSMITROL 20% IN WATER IN PLASTIC CONTAINER
OSMITROL 5% IN WATER IN PLASTIC CONTAINER
Osmitrol
Osmitrol (TN)
Osmitrol 10% In Water
Osmitrol 15% In Water
Osmitrol 20% In Water
Osmitrol 5% In Water
Osmofundin
Osmosal
Resectisol
Resectisol In Plastic Container
SDM No. 35
SMR000857324
SORBITOL-MANNITOL IN PLASTIC CONTAINER
Sorbitol-Mannitol
TL806434
UNII-3OWL53L36A
ZINC02041302
bmse000099
cpd without stereochemical designation
e 421
e-421
e421
manita
mannitol

Interventional clinical trials:

idNameStatusNCT IDPhase
1Pharmacokinetics and Safety Study of Single and Multiple Oral Doses Prodarsan™ in Patients With Cockayne SyndromeCompletedNCT01142154Phase 1, Phase 2
2Examination of Clinical and Laboratory Abnormalities in Patients With Defective DNA Repair: Xeroderma Pigmentosum, Cockayne Syndrome, or TrichothiodystrophyRecruitingNCT00001813
3Observational Study to Assess Natural History in Cockayne Syndrome PatientsTerminatedNCT00985413

Search NIH Clinical Center for Cockayne Syndrome


Cochrane evidence based reviews: cockayne syndrome

Genetic Tests for Cockayne Syndrome

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Genetic tests related to Cockayne Syndrome:

id Genetic test Affiliating Genes
1 Cockayne Syndrome25 23 ERCC8

Anatomical Context for Cockayne Syndrome

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MalaCards organs/tissues related to Cockayne Syndrome:

34
Eye, Skin, Brain, Bone, B cells, Breast, Kidney

Animal Models for Cockayne Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Cockayne Syndrome:

39 (show all 11)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053709.0ERCC1, ERCC4, ERCC5, ERCC6, OGG1, XPA
2MP:00053918.3DDB1, ERCC2, ERCC6, ERCC8, XPA, XPC
3MP:00107718.2DDB2, ERCC1, ERCC2, ERCC3, ERCC5, ERCC6
4MP:00020067.7DDB2, ERCC1, ERCC2, ERCC3, ERCC6, ERCC8
5MP:00053787.5DDB2, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5
6MP:00053846.6DDB1, DDB2, ERCC1, ERCC2, ERCC3, ERCC4
7MP:00107685.7DDB1, DDB2, ERCC1, ERCC2, ERCC3, ERCC4

Publications for Cockayne Syndrome

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Articles related to Cockayne Syndrome:

(show top 50)    (show all 384)
idTitleAuthorsYear
1
Novel missense mutations in a conserved loop between ERCC6 (CSB) helicase motifs V and VI: Insights into Cockayne syndrome. (26749132)
2016
2
The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care. (26204423)
2015
3
Melatonin alterations and brain acetylcholine lesions in sleep disorders in Cockayne syndrome. (24503446)
2014
4
Cockayne syndrome protein A is a transcription factor of RNA polymerase I and stimulates ribosomal biogenesis and growth. (24781187)
2014
5
Cockayne syndrome: characteristic neuroimaging features. (25381627)
2014
6
The rem mutations in the ATP-binding groove of the Rad3/XPD helicase lead to Xeroderma pigmentosum-Cockayne syndrome-like phenotypes. (25500814)
2014
7
Dysregulation of gene expression as a cause of Cockayne syndrome neurological disease. (25249633)
2014
8
Cockayne syndrome b maintains neural precursor function. (23245699)
2013
9
Repair of oxidatively generated DNA damage in Cockayne syndrome. (23518175)
2013
10
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
11
Reciprocally regulated chromatin association of Cockayne syndrome protein B and p53 protein. (21852235)
2011
12
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
13
Cockayne syndrome B protects against methamphetamine-enhanced oxidative DNA damage in murine fetal brain and postnatal neurodevelopmental deficits. (20673160)
2011
14
Neuroimaging in Cockayne syndrome. (20522568)
2010
15
Cockayne syndrome B protein (CSB): linking p53, HIF-1 and p300 to robustness, lifespan, cancer and cell fate decisions. (19221478)
2009
16
A novel DNA repair disorder with thrombocytopenia, nephrosis and features overlapping Cockayne syndrome. (19760648)
2009
17
An abundant evolutionarily conserved CSB-PiggyBac fusion protein expressed in Cockayne syndrome. (18369450)
2008
18
Activation of RNA polymerase I transcription by cockayne syndrome group B protein and histone methyltransferase G9a. (17707230)
2007
19
The current evidence for defective repair of oxidatively damaged DNA in Cockayne syndrome. (17603927)
2007
20
Xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome: a complex genotype-phenotype relationship. (17276014)
2007
21
Complementation of the oxidatively damaged DNA repair defect in Cockayne syndrome A and B cells by Escherichia coli formamidopyrimidine DNA glycosylase. (17512460)
2007
22
A common mutational pattern in Cockayne syndrome patients from xeroderma pigmentosum group G: implications for a second XPG function. (17179216)
2006
23
Host cell reactivation of plasmids containing oxidative DNA lesions is defective in Cockayne syndrome but normal in UV-sensitive syndrome fibroblasts. (16129663)
2006
24
Cockayne syndrome in 2 siblings. (15951889)
2005
25
Characterisation of novel mutations in Cockayne syndrome type A and xeroderma pigmentosum group C subjects. (15744458)
2005
26
Primary fibroblasts of Cockayne syndrome patients are defective in cellular repair of 8-hydroxyguanine and 8-hydroxyadenine resulting from oxidative stress. (12665480)
2003
27
The gene expression and deficiency phenotypes of Cockayne syndrome B protein in Caenorhabditis elegans. (12095617)
2002
28
Phenotypic consequences of mutations in the conserved motifs of the putative helicase domain of the human Cockayne syndrome group B gene. (11867210)
2002
29
UVB radiation-induced cancer predisposition in Cockayne syndrome group A (Csa) mutant mice. (12509261)
2002
30
Functional crosstalk between hOgg1 and the helicase domain of Cockayne syndrome group B protein. (12531019)
2002
31
Xeroderma pigmentosum group G with severe neurological involvement and features of Cockayne syndrome in infancy. (11228268)
2001
32
Manitoba aboriginal kindred with original cerebro-oculo-facio- skeletal syndrome has a mutation in the Cockayne syndrome group B (CSB) gene. (10739753)
2000
33
Enhancement of XPG mRNA transcription by human interferon-beta in Cockayne syndrome cells with complementation group B. (9864391)
1999
34
Biochemical and biological characterization of wild-type and ATPase-deficient Cockayne syndrome B repair protein. (9565609)
1998
35
Reduced RNA polymerase II transcription in extracts of cockayne syndrome and xeroderma pigmentosum/Cockayne syndrome cells. (9278484)
1997
36
Cockayne syndrome: review of 25 cases. (8972530)
1996
37
RAD26, the functional S. cerevisiae homolog of the Cockayne syndrome B gene ERCC6. (7957102)
1994
38
Ocular findings in Cockayne syndrome. (1443019)
1992
39
Xeroderma pigmentosum and Cockayne syndrome: overlapping clinical and biochemical phenotypes. (1372469)
1992
40
Insusceptibility of Cockayne syndrome-derived lymphocytes to plasminogen activator-like protease induction by ultraviolet rays and its abolition by interferon. (1705660)
1991
41
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
42
Cockayne syndrome with delayed recovery of RNA synthesis after ultraviolet irradiation but normal ultraviolet survival. (2432457)
1987
43
Ultraviolet hypersensitivity of Cockayne syndrome lymphoblastoid lines--the effects of exogenous beta-nicotinamide adenine dinucleotide. (3562572)
1986
44
Peripheral neuropathy in Cockayne syndrome. (3019920)
1986
45
Establishment of Cockayne syndrome fibroblast cell line belonging to complementation group B by SV40 transformation. (2989592)
1985
46
Cockayne syndrome. (7174933)
1982
47
Cockayne syndrome: an atypical case. (7192807)
1980
48
Cockayne syndrome: report of two siblings and review of literature in Japan. (553450)
1979
49
Cockayne syndrome: unusual neuropathological findings and review of the literature. (400082)
1979
50
Xeroderma pigmentosum and Cockayne syndrome. (662506)
1978

Variations for Cockayne Syndrome

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Copy number variations for Cockayne Syndrome from CNVD:

6
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1427951040200000135534747Copy numberERCC6Cockayne syndrome

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 Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.9ERCC1, ERCC4
2
Show member pathways
9.7ERCC2, ERCC3, ERCC6
3
Show member pathways
9.4DDB2, ERCC5, XPC
49.2ERCC2, ERCC3, XPA, XPC
58.7ERCC1, ERCC2, ERCC3, ERCC4, ERCC6, XPA
67.3DDB1, DDB2, ERCC1, ERCC2, ERCC3, ERCC4
7
Show member pathways
6.8ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6
8
Show member pathways
6.6DDB1, DDB2, ERCC1, ERCC2, ERCC3, ERCC4
9
Show member pathways
5.6DDB1, DDB2, ERCC1, ERCC2, ERCC3, ERCC4
10
Show member pathways
5.1DDB1, DDB2, ERCC1, ERCC2, ERCC3, ERCC4

GO Terms for genes affiliated with Cockayne Syndrome

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Cellular components related to Cockayne Syndrome according to GeneCards Suite gene sharing:

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1core TFIIH complexGO:000043910.7ERCC2, ERCC3
2ERCC4-ERCC1 complexGO:007052210.7ERCC1, ERCC4
3transcription factor TFIID complexGO:000566910.6ERCC1, ERCC4
4DNA replication factor A complexGO:000566210.5ERCC5, XPA
5nucleotide-excision repair complexGO:000010910.4ERCC1, ERCC4, ERCC8
6holo TFIIH complexGO:000567510.3ERCC2, ERCC3, ERCC5
7nucleotide-excision repair factor 1 complexGO:000011010.2ERCC1, ERCC4, XPA
8Cul4A-RING E3 ubiquitin ligase complexGO:003146410.0DDB1, ERCC8
9Cul4B-RING E3 ubiquitin ligase complexGO:00314659.8DDB1, DDB2
10nuclear chromosome, telomeric regionGO:00007849.5DDB1, ERCC1, ERCC4
11nucleusGO:00056346.0DDB1, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5
12nucleoplasmGO:00056544.8DDB1, DDB2, ERCC1, ERCC2, ERCC3, ERCC4

Biological processes related to Cockayne Syndrome according to GeneCards Suite gene sharing:

(show all 32)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of telomere maintenanceGO:003220510.5ERCC1, ERCC4
2transcription initiation from RNA polymerase I promoterGO:000636110.5ERCC2, ERCC3
3termination of RNA polymerase I transcriptionGO:000636310.5ERCC2, ERCC3
4response to UV-BGO:001022410.5ERCC6, XPC
57-methylguanosine mRNA cappingGO:000637010.4ERCC2, ERCC3
6nucleotide-excision repair involved in interstrand cross-link repairGO:190125510.4ERCC4, XPA
7hair cell differentiationGO:003531510.3ERCC2, ERCC3
8embryonic organ developmentGO:004856810.3ERCC1, ERCC3
9transcription elongation from RNA polymerase I promoterGO:000636210.2ERCC2, ERCC3, ERCC6
10response to auditory stimulusGO:001099610.2XPA, XPC
11response to X-rayGO:001016510.2ERCC1, ERCC6, ERCC8
12pyrimidine dimer repairGO:000629010.0DDB2, ERCC6
13UV protectionGO:00096509.6ERCC1, ERCC2, ERCC3, ERCC4, ERCC5
14multicellular organism growthGO:00352649.6ERCC1, ERCC2, ERCC6, XPA
15histone H2A monoubiquitinationGO:00355189.4DDB1, DDB2
16base-excision repairGO:00062849.3ERCC6, OGG1, XPA
17regulation of mitotic cell cycle phase transitionGO:19019909.2DDB1, ERCC2, ERCC3, XPC
18UV-damage excision repairGO:00709148.8DDB1, DDB2, XPA, XPC
19nucleotide-excision repair, DNA damage recognitionGO:00007158.8DDB1, DDB2, XPA, XPC
20cellular response to DNA damage stimulusGO:00069748.5ERCC1, ERCC6, ERCC8, OGG1, XPC
21response to oxidative stressGO:00069798.2ERCC1, ERCC2, ERCC3, ERCC6, ERCC8, OGG1
22nucleotide-excision repair, DNA duplex unwindingGO:00007178.0DDB1, DDB2, ERCC2, ERCC3, XPA, XPC
23nucleotide-excision repair, preincision complex assemblyGO:00062948.0DDB1, DDB2, ERCC2, ERCC3, ERCC5, XPA
24response to UVGO:00094117.7DDB2, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6
25nucleotide-excision repair, DNA incision, 3-to lesionGO:00062957.7DDB1, DDB2, ERCC1, ERCC2, ERCC3, ERCC4
26nucleotide-excision repair, DNA incision, 5-to lesionGO:00062967.6DDB1, DDB2, ERCC1, ERCC2, ERCC3, ERCC4
27global genome nucleotide-excision repairGO:00709117.6DDB1, DDB2, ERCC1, ERCC2, ERCC3, ERCC4
28nucleotide-excision repair, preincision complex stabilizationGO:00062937.5DDB1, DDB2, ERCC1, ERCC2, ERCC3, ERCC4
29nucleotide-excision repairGO:00062897.4DDB1, DDB2, ERCC1, ERCC2, ERCC3, ERCC4
30nucleotide-excision repair, DNA incisionGO:00336837.1DDB1, DDB2, ERCC1, ERCC2, ERCC3, ERCC4
31transcription-coupled nucleotide-excision repairGO:00062836.8DDB1, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5
32DNA repairGO:00062816.4DDB1, DDB2, ERCC1, ERCC2, ERCC3, ERCC4

Molecular functions related to Cockayne Syndrome according to GeneCards Suite gene sharing:

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1structure-specific DNA bindingGO:004356610.6ERCC1, ERCC4
2RNA polymerase II carboxy-terminal domain kinase activityGO:000835310.6ERCC2, ERCC3
3bubble DNA bindingGO:000040510.6ERCC5, XPC
4TFIID-class transcription factor bindingGO:000109410.6ERCC1, ERCC4
5DNA helicase activityGO:000367810.5ERCC6, ERCC8
6ATP-dependent DNA helicase activityGO:000400310.5ERCC2, ERCC3
7single-stranded DNA endodeoxyribonuclease activityGO:000001410.4ERCC1, ERCC4
8endodeoxyribonuclease activityGO:000452010.3ERCC4, ERCC5
9DNA-dependent ATPase activityGO:000809410.0ERCC2, ERCC3, ERCC6, ERCC8
10single-stranded DNA bindingGO:00036979.8ERCC1, ERCC4, ERCC5, XPC
11protein N-terminus bindingGO:00474859.7ERCC2, ERCC3, ERCC4, ERCC5, ERCC6
12protein C-terminus bindingGO:00080229.6ERCC1, ERCC2, ERCC3, ERCC4, ERCC6
13damaged DNA bindingGO:00036847.6DDB1, DDB2, ERCC1, ERCC3, ERCC4, OGG1
14protein bindingGO:00055155.1DDB1, DDB2, ERCC1, ERCC2, ERCC3, ERCC4

Sources for Cockayne Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet