MCID: CCK001
MIFTS: 57

Cockayne Syndrome malady

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

Aliases & Classifications for Cockayne Syndrome

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Sources:
10Disease Ontology, 68Wikipedia, 21GeneReviews, 45NIH Rare Diseases, 23Genetics Home Reference, 47Novoseek, 12DISEASES, 51Orphanet, 65UMLS, 36MeSH, 22GeneTests, 42NCIt, 59SNOMED-CT, 29ICD9CM, 66UMLS via Orphanet, 28ICD10 via Orphanet, 37MESH via Orphanet
See all sources

Aliases & Descriptions for Cockayne Syndrome:

Name: Cockayne Syndrome 10 68 21 45 23 47 12 51 65 36
Dwarfism-Retinal Atrophy-Deafness Syndrome 68 45 22 23
Progeria-Like Syndrome 68 45 23
Progeroid Nanism 68 45 23
 
Cockayne's Syndrome 45 22
Cs 68 23
Dwarfism with Retinal Atrohpy and Deafness 22
Neill-Dingwall Syndrome 68


Classifications:



Characteristics (Orphanet epidemiological data):

51
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
MeSH36 D003057
NCIt42 C9460
ICD9CM29 759.8
SNOMED-CT59 21086008, 205832003
Orphanet51 191
UMLS via Orphanet66 C0009207
ICD10 via Orphanet28 Q87.1
MESH via Orphanet37 D003057

Summaries for Cockayne Syndrome

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NIH Rare Diseases:45 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 dwarfism-retinal atrophy-deafness syndrome, is related to cockayne syndrome, type a and cockayne syndrome type ii, 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 Transcription_P53 signaling pathway and Platinum Pathway, Pharmacokinetics/Pharmacodynamics. Affiliated tissues include eye, brain and bone, and related mouse phenotypes are adipose tissue and liver/biliary system.

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.

GeneReviews summary for cockayne

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 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 242)
idRelated DiseaseScoreTop Affiliating Genes
1cockayne syndrome, type a31.4ERCC6, ERCC8
2cockayne syndrome type ii31.3ERCC4, ERCC6, ERCC8
3cockayne syndrome type iii31.3ERCC1, ERCC6, ERCC8
4cockayne syndrome, type b31.2ERCC6, ERCC8
5xeroderma pigmentosum, group a30.6ERCC4, XPA, XPC
6xeroderma pigmentosum, group b30.5DNAH8, ERCC2, ERCC3, HELLS
7cerebrooculofacioskeletal syndrome 130.4ERCC2, ERCC5, ERCC6
8trichothiodystrophy 1, photosensitive30.3ERCC2, ERCC3, XPC
9xeroderma pigmentosum, group c30.1ERCC2, ERCC3, ERCC5, ERCC8, POLR2L, XPA
10b cell deficiency29.9ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8
11cerebrooculofacioskeletal syndrome 229.7ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6
12xeroderma pigmentosum, variant type29.0DDB1, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5
13cockayne syndrome type i10.6
14xeroderma pigmentosum, group g10.5
15xeroderma pigmentosum, group f10.5
16xeroderma pigmentosum-cockayne syndrome complex10.5
17malaria10.4
18uv-sensitive syndrome10.4
19xeroderma pigmentosum, group d10.3
20neuropathy10.3
21ercc6-related cockayne syndrome10.3
22ercc8-related cockayne syndrome10.3
23parasitic protozoa infectious disease10.3
24coenzyme q cytochrome c reductase deficiency of10.3ERCC6, ERCC8
25child syndrome10.3
26progeria10.3
27neuronitis10.3
28secondary syphilis10.3
29bone development disease10.3
30congenital nervous system abnormality10.3
31nutritional deficiency disease10.3
32dwarfism10.3
33kid syndrome10.3
34marchiafava bignami disease10.3
35transient tyrosinemia of the newborn10.2ERCC3, ERCC5
36congestive heart failure10.2
37cushing's syndrome10.2
38plasmodium falciparum malaria10.2
39congenital heart disease10.2
40cerebrooculofacioskeletal syndrome 310.2
41epidermolysis bullosa simplex, weber-cockayne type10.2
42cerebritis10.2
43bone structure disease10.2
44ischemia10.2
45peripheral neuropathy10.2
46neurologic diseases10.2
47cerebro-oculo-facio-skeletal syndrome10.2
48ataxia10.2
49xfe progeroid syndrome10.2ERCC1, ERCC4
50calciphylaxis10.2

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:

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Mannitolapproved, investigationalPhase 1, Phase 222069-65-8453, 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 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

Animal Models for Cockayne Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Cockayne Syndrome:

38 (show all 11)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053759.7ERCC1, ERCC2, ERCC6, HELLS, XPA
2MP:00053709.0ERCC1, ERCC4, ERCC5, ERCC6, HPRT1, TCEA1
3MP:00053918.8DDB1, ERCC2, ERCC6, ERCC8, HPRT1, XPA
4MP:00020068.7ERCC1, ERCC2, ERCC3, ERCC6, ERCC8, HPRT1
5MP:00107718.3ERCC1, ERCC2, ERCC3, ERCC5, ERCC6, ERCC8
6MP:00053978.0ERCC1, ERCC2, ERCC5, ERCC6, ERCC8, HELLS
7MP:00053848.0DDB1, ERCC1, ERCC2, ERCC3, ERCC4, ERCC6
8MP:00053787.7ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6
9MP:00107686.7DDB1, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5

Publications for Cockayne Syndrome

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Articles related to Cockayne Syndrome:

(show top 50)    (show all 365)
idTitleAuthorsYear
1
The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care. (26204423)
2015
2
Teaching NeuroImages: Cockayne syndrome with extensive intracranial calcification. (25941205)
2015
3
Dental Management of a 14-Year-Old with Cockayne Syndrome under General Anesthesia. (25574402)
2014
4
Melatonin alterations and brain acetylcholine lesions in sleep disorders in Cockayne syndrome. (24503446)
2014
5
Cockayne syndrome protein A is a transcription factor of RNA polymerase I and stimulates ribosomal biogenesis and growth. (24781187)
2014
6
From laboratory tests to functional characterisation of Cockayne syndrome. (23567079)
2013
7
Tracking the Cognitive, Social, and Neuroanatomical Profile in Early Neurodegeneration: Type III Cockayne Syndrome. (24324434)
2013
8
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
9
Reciprocally regulated chromatin association of Cockayne syndrome protein B and p53 protein. (21852235)
2011
10
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
11
Testicular nuclear receptor 4 (TR4) regulates UV light-induced responses via Cockayne syndrome B protein-mediated transcription-coupled DNA repair. (21918225)
2011
12
Cockayne syndrome B protein (CSB): linking p53, HIF-1 and p300 to robustness, lifespan, cancer and cell fate decisions. (19221478)
2009
13
A novel DNA repair disorder with thrombocytopenia, nephrosis and features overlapping Cockayne syndrome. (19760648)
2009
14
Perioperative management of patients with Cockayne syndrome - recognition of accelerated aging with growth arrest. (18315666)
2008
15
Activation of RNA polymerase I transcription by cockayne syndrome group B protein and histone methyltransferase G9a. (17707230)
2007
16
The current evidence for defective repair of oxidatively damaged DNA in Cockayne syndrome. (17603927)
2007
17
A common mutational pattern in Cockayne syndrome patients from xeroderma pigmentosum group G: implications for a second XPG function. (17179216)
2006
18
Host cell reactivation of plasmids containing oxidative DNA lesions is defective in Cockayne syndrome but normal in UV-sensitive syndrome fibroblasts. (16129663)
2006
19
Cockayne syndrome in 2 siblings. (15951889)
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:

5 (show all 33)
id Gene Variation Type Significance SNP ID Assembly Location
1NM_000124.3(ERCC6): c.543+4delAdeletionPathogenicrs527236039GRCh37Chr 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, 50732504: 50732504
6ERCC6ERCC6, 4-BP INS, 1053TGTCinsertionPathogenic
7ERCC6ERCC6, 1-BP INS, 1034TinsertionPathogenic
8ERCC8ERCC8, 279-BP DEL, 81-BP DELdeletionPathogenic
9ERCC8NM_000082.3(ERCC8): c.966C> A (p.Tyr322Ter)single nucleotide variantPathogenicrs121434323GRCh37Chr 5, 60186791: 60186791
10ERCC8NM_000082.3(ERCC8): c.37G> T (p.Glu13Ter)single nucleotide variantPathogenicrs121434324GRCh37Chr 5, 60240799: 60240799
11NM_000124.3(ERCC6): c.1280dupT (p.Ser429Lysfs)duplicationPathogenicrs786205166GRCh38Chr 10, 49524150: 49524150
12ERCC6NM_000124.3(ERCC6): c.1526+1G> Tsingle nucleotide variantPathogenicrs371739894GRCh37Chr 10, 50713929: 50713929
13ERCC6NM_000124.3(ERCC6): c.1850dupG (p.Cys617Trpfs)duplicationPathogenicrs786205167GRCh38Chr 10, 49483488: 49483488
14ERCC6NM_000124.3(ERCC6): c.1518delG (p.Lys506Asnfs)deletionLikely pathogenicrs786205168GRCh37Chr 10, 50713938: 50713938
15ERCC6NM_000124.3(ERCC6): c.1684_1705deldeletionPathogenic
16ERCC6NM_000124.3(ERCC6): c.1954C> T (p.Arg652Ter)single nucleotide variantLikely pathogenicrs767247987GRCh37Chr 10, 50691430: 50691430
17ERCC6NM_000124.3(ERCC6): c.1999delA (p.Thr667Profs)deletionPathogenicrs786205169GRCh37Chr 10, 50690903: 50690903
18ERCC6NM_000124.3(ERCC6): c.2008C> T (p.Arg670Trp)single nucleotide variantPathogenicrs202080674GRCh37Chr 10, 50690894: 50690894
19ERCC6NM_000124.3(ERCC6): c.2096dupC (p.Leu700Valfs)duplicationLikely pathogenicrs774791374GRCh38Chr 10, 49482760: 49482760
20ERCC6NM_000124.3(ERCC6): c.2167C> T (p.Gln723Ter)single nucleotide variantPathogenicrs151242354GRCh37Chr 10, 50690735: 50690735
21ERCC6NM_000124.3(ERCC6): c.2599-26A> Gsingle nucleotide variantPathogenicrs4253196GRCh38Chr 10, 49473613: 49473613
22ERCC6NM_000124.3(ERCC6): c.2830-2A> Gsingle nucleotide variantPathogenicrs373227647GRCh37Chr 10, 50680518: 50680518
23ERCC6NM_000124.3(ERCC6): c.3412dupA (p.Thr1138Asnfs)duplicationPathogenicrs786205170GRCh37Chr 10, 50678594: 50678594
24ERCC6NM_000124.3(ERCC6): c.3536delA (p.Tyr1179Leufs)deletionPathogenicrs786205171GRCh38Chr 10, 49470424: 49470424
25ERCC6NM_000124.3(ERCC6)insertionPathogenicrs786205172GRCh37Chr 10, 50678398: 50678399
26ERCC6NM_000124.3(ERCC6): c.3612_3613insT (p.Lys1205Terfs)insertionLikely pathogenicrs786205173GRCh38Chr 10, 49470347: 49470348
27ERCC6NM_000124.3(ERCC6): c.3904C> T (p.Gln1302Ter)single nucleotide variantPathogenicrs786205174GRCh38Chr 10, 49461431: 49461431
28ERCC6NM_000124.3(ERCC6): c.3952_3953delAG (p.Arg1318Glyfs)deletionLikely pathogenicrs765825423GRCh37Chr 10, 50669428: 50669429
29ERCC6NM_000124.3(ERCC6): c.4007delA (p.Asn1336Ilefs)deletionPathogenicrs786205175GRCh37Chr 10, 50668474: 50668474
30ERCC8NM_000082.3(ERCC8): c.141delC (p.Asn47Lysfs)deletionPathogenicrs786205176GRCh38Chr 5, 60928896: 60928896
31ERCC6NM_000124.3(ERCC6): c.2551T> C (p.Trp851Arg)single nucleotide variantPathogenicrs368728467GRCh37Chr 10, 50682120: 50682120
32NM_000124.3(ERCC6): c.850_851insT (p.Glu284Valfs)insertionPathogenicrs797045562GRCh37Chr 10, 50732625: 50732626
33NM_000124.3(ERCC6): c.466C> T (p.Gln156Ter)single nucleotide variantLikely pathogenicrs751838040GRCh38Chr 10, 49530797: 49530797

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:

(show all 11)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.2ERCC2, ERCC3, GTF2H2, XPA, XPC
29.2ERCC1, ERCC2, ERCC3, ERCC4, ERCC6, XPA
3
Show member pathways
9.1ERCC2, ERCC3, ERCC6, GTF2H2, POLR2L
4
Show member pathways
8.9ERCC2, ERCC3, GTF2H2, POLR2L, TCEA1
5
Show member pathways
8.9ERCC2, ERCC3, GTF2H2, POLR2L, TCEA1
6
Show member pathways
8.8GTF2H2, POLR2L, TCEA1, TCEA3
78.7DDB1, ERCC1, ERCC2, ERCC3, ERCC4, XPA
8
Show member pathways
7.7DDB1, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5
9
Show member pathways
7.6ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6
10
Show member pathways
6.0DDB1, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5
11
Show member pathways
6.0DDB1, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5

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 11)
idNameGO IDScoreTop Affiliating Genes
1nucleotide-excision repair factor 1 complexGO:000011010.8ERCC1, ERCC4
2ERCC4-ERCC1 complexGO:007052210.8ERCC1, ERCC4
3transcription factor TFIID complexGO:000566910.7ERCC1, ERCC4
4nucleotide-excision repair complexGO:000010910.7ERCC1, ERCC4, ERCC8
5DNA replication factor A complexGO:000566210.6ERCC5, XPA
6core TFIIH complexGO:000043910.5ERCC2, ERCC3, GTF2H2
7holo TFIIH complexGO:000567510.2ERCC2, ERCC3, ERCC5, GTF2H2
8Cul4A-RING E3 ubiquitin ligase complexGO:003146410.2DDB1, ERCC8
9nuclear chromosome, telomeric regionGO:000078410.1DDB1, ERCC1, ERCC4
10nucleoplasmGO:00056545.9DDB1, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5
11nucleusGO:00056345.9DDB1, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5

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

(show all 35)
idNameGO IDScoreTop Affiliating Genes
1nucleotide-excision repair, DNA incision, 5-to lesionGO:000629610.8ERCC1, ERCC4
2hair cell differentiationGO:003531510.7ERCC2, ERCC3
3response to UV-BGO:001022410.7ERCC6, XPC
4negative regulation of telomere maintenanceGO:003220510.7ERCC1, ERCC4
5nucleotide-excision repair, DNA incision, 3-to lesionGO:000629510.6ERCC1, ERCC4, ERCC5
6lymphocyte proliferationGO:004665110.6HELLS, HPRT1
7response to auditory stimulusGO:001099610.6XPA, XPC
8response to X-rayGO:001016510.4ERCC1, ERCC6, ERCC8
9nucleotide-excision repair, DNA damage recognitionGO:000071510.1DDB1, XPC
10UV-damage excision repairGO:007091410.1DDB1, XPC
11UV protectionGO:000965010.1ERCC1, ERCC2, ERCC3, ERCC4, ERCC5
12regulation of DNA-templated transcription, elongationGO:003278410.0ERCC6, TCEA1, TCEA3
13regulation of mitotic cell cycle phase transitionGO:190199010.0DDB1, ERCC2, ERCC3, XPC
14transcription from RNA polymerase I promoterGO:00063609.9ERCC2, ERCC3, GTF2H2, POLR2L
15transcription initiation from RNA polymerase I promoterGO:00063619.9ERCC2, ERCC3, GTF2H2, POLR2L
16termination of RNA polymerase I transcriptionGO:00063639.9ERCC2, ERCC3, GTF2H2, POLR2L
177-methylguanosine mRNA cappingGO:00063709.8ERCC2, ERCC3, GTF2H2, POLR2L
18multicellular organism growthGO:00352649.8ERCC1, ERCC2, ERCC6, XPA
19transcription initiation from RNA polymerase II promoterGO:00063679.8ERCC2, ERCC3, GTF2H2, POLR2L
20cellular response to DNA damage stimulusGO:00069749.8ERCC1, ERCC6, ERCC8, XPC
21transcription elongation from RNA polymerase I promoterGO:00063629.7ERCC2, ERCC3, ERCC6, GTF2H2, POLR2L
22response to oxidative stressGO:00069799.4ERCC1, ERCC2, ERCC3, ERCC6, ERCC8, XPA
23transcription elongation from RNA polymerase II promoterGO:00063689.4ERCC2, ERCC3, GTF2H2, POLR2L, TCEA1
24positive regulation of viral transcriptionGO:00504349.4ERCC2, ERCC3, GTF2H2, POLR2L, TCEA1
25negative regulation of gene expression, epigeneticGO:00458149.2ERCC2, ERCC3, GTF2H2, POLR2L
26regulation of gene expression, epigeneticGO:00400299.0ERCC2, ERCC3, GTF2H2, POLR2L
27viral processGO:00160328.8DDB1, ERCC2, ERCC3, GTF2H2, POLR2L, TCEA1
28transcription from RNA polymerase II promoterGO:00063668.7ERCC2, ERCC3, ERCC6, GTF2H2, POLR2L, TCEA1
29nucleotide-excision repair, DNA incisionGO:00336838.7DDB1, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5
30nucleotide-excision repair, DNA damage removalGO:00007188.4DDB1, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5
31global genome nucleotide-excision repairGO:00709118.4DDB1, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5
32response to UVGO:00094118.4ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8
33transcription-coupled nucleotide-excision repairGO:00062836.7DDB1, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5
34nucleotide-excision repairGO:00062896.4DDB1, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5
35DNA repairGO:00062816.2DDB1, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5

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

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1TFIID-class transcription factor bindingGO:000109410.8ERCC1, ERCC4
2single-stranded DNA endodeoxyribonuclease activityGO:000001410.7ERCC1, ERCC4
3structure-specific DNA bindingGO:004356610.6ERCC1, ERCC4
4bubble DNA bindingGO:000040510.6ERCC5, XPC
5endonuclease activityGO:000451910.4ERCC1, ERCC4, ERCC5
6endodeoxyribonuclease activityGO:000452010.4ERCC4, ERCC5
7DNA helicase activityGO:000367810.3ERCC6, ERCC8
8RNA polymerase II carboxy-terminal domain kinase activityGO:000835310.1ERCC2, ERCC3, GTF2H2
9single-stranded DNA bindingGO:00036979.9ERCC1, ERCC4, ERCC5, XPC
10DNA-dependent ATPase activityGO:00080949.6ERCC2, ERCC3, ERCC6, ERCC8, GTF2H2
11protein N-terminus bindingGO:00474859.5ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, GTF2H2
12protein C-terminus bindingGO:00080229.4ERCC1, ERCC2, ERCC3, ERCC4, ERCC6
13damaged DNA bindingGO:00036849.1DDB1, ERCC1, ERCC3, ERCC4, XPA, XPC
14DNA bindingGO:00036777.0DDB1, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5

Sources for Cockayne Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet