MCID: CCK001
MIFTS: 64

Cockayne Syndrome

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

Aliases & Classifications for Cockayne Syndrome

MalaCards integrated aliases for Cockayne Syndrome:

Name: Cockayne Syndrome 12 72 23 49 24 55 36 28 51 41 14 69
Cockayne's Syndrome 12 72 49
Dwarfism-Retinal Atrophy-Deafness Syndrome 49 24
Neill-Dingwall Syndrome 12
Progeria-Like Syndrome 49
Progeroid Nanism 49
Cs 24

Characteristics:

Orphanet epidemiological data:

55
cockayne syndrome
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: All ages; Age of death: any age;

Classifications:



Summaries for Cockayne Syndrome

NIH Rare Diseases : 49 Cockayne syndrome is a rare disease 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, very small head (microcephaly), and impaired nervous system development. Other symptoms may include hearing loss, tooth decay, vision problems, and bone abnormalities. There are three subtypes according to the severity of the disease and the onset of the symptoms:Cockayne syndrome type 1 (type A), sometimes called “classic” or "moderate" Cockayne syndrome, diagnosed during early childhood Cockayne syndrome type 2 (type B), sometimes referred to as the “severe” or "early-onset" type, presenting with growth and developmental abnormalities at birth Cockayne syndrome type 3 (type C), a milder form of the disorder  Cockayne syndrome is caused by mutations in either the ERCC8 (CSA) or ERCC6 (CSB) genes. Inheritance is  autosomal recessive. Type 2 is the most severe and affected people usually do not survive past childhood. Those with type 3 live into middle adulthood. There is no cure yet. Treatment is supportive and may include educational programs for developmental delay, physical therapy, gastrostomy tube placement as needed; medications for spasticity and tremor as needed; use of sunscreens and sunglasses; treatment of hearing loss and cataracts; and other forms of treatment, as needed. Last updated: 9/7/2017

MalaCards based summary : Cockayne Syndrome, also known as cockayne's syndrome, is related to cockayne syndrome type iii and cockayne syndrome type i, and has symptoms including cryptorchidism, nephrotic syndrome and abnormality of the palate. An important gene associated with Cockayne Syndrome is ERCC1 (ERCC Excision Repair 1, Endonuclease Non-Catalytic Subunit), and among its related pathways/superpathways are Nucleotide excision repair and DNA Double-Strand Break Repair. The drugs Mannitol and Everolimus have been mentioned in the context of this disorder. Affiliated tissues include brain, bone and skin, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Disease Ontology : 12 An autosomal recessive disease that has material basis in 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.

GeneReviews: NBK1342

Related Diseases for Cockayne Syndrome

Diseases in the Cockayne Syndrome family:

Cockayne Syndrome B Cockayne Syndrome a
Cockayne Syndrome Type I Cockayne Syndrome Type Ii
Cockayne Syndrome Type Iii

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

(show top 50) (show all 72)
# Related Disease Score Top Affiliating Genes
1 cockayne syndrome type iii 34.2 ERCC6 ERCC8
2 cockayne syndrome type i 34.2 ERCC4 ERCC6 ERCC8
3 cockayne syndrome type ii 34.1 ERCC1 ERCC6 ERCC8
4 cockayne syndrome b 33.9 ERCC2 ERCC6 ERCC8 XPA
5 cockayne syndrome a 33.8 ERCC2 ERCC4 ERCC5 ERCC6 ERCC8
6 xeroderma pigmentosum, complementation group b 32.5 ERCC1 ERCC2 ERCC3 XPA
7 xeroderma pigmentosum, complementation group g 32.3 DDB2 ERCC1 ERCC3 ERCC4 ERCC5 XPA
8 xeroderma pigmentosum, complementation group f 32.3 DDB2 ERCC1 ERCC2 ERCC4 ERCC5 XPA
9 cerebrooculofacioskeletal syndrome 1 32.2 ERCC2 ERCC5 ERCC6
10 xeroderma pigmentosum, complementation group d 32.1 ERCC1 ERCC2 ERCC3 XPA
11 cerebro-oculo-facio-skeletal syndrome 31.9 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6
12 xeroderma pigmentosum, complementation group c 29.7 DDB2 ERCC3 XPA XPC
13 trichothiodystrophy 1, photosensitive 29.6 ERCC1 ERCC2 ERCC3 ERCC5 ERCC6 HELLS
14 uv-sensitive syndrome 29.5 ERCC2 ERCC3 ERCC5 ERCC6 ERCC8 PGBD3
15 xeroderma pigmentosum group e 29.4 DDB1 DDB2 XPA XPC
16 fanconi anemia, complementation group a 29.1 ERCC1 ERCC2 ERCC4 HELLS HPRT1
17 xeroderma pigmentosum, variant type 28.5 DDB1 DDB2 ERCC1 ERCC2 ERCC3 ERCC4
18 cowden syndrome 1 11.6
19 progeroid short stature with pigmented nevi 11.5
20 cataract, microcephaly, failure to thrive, kyphoscoliosis syndrome 11.2
21 epidermolysis bullosa simplex, localized 11.0
22 cerebrooculofacioskeletal syndrome 3 11.0
23 congenital intrauterine infection-like syndrome 11.0
24 diabetes insipidus, nephrogenic, with mental retardation and intracerebral calcification 10.8
25 cerebrooculofacioskeletal syndrome 2 10.8
26 cerebrooculofacioskeletal syndrome 4 10.8
27 uv-sensitive syndrome 2 10.8
28 craniosynostosis 2 10.4
29 xfe progeroid syndrome 10.2 ERCC1 ERCC4
30 aging 10.2
31 autosomal genetic disease 10.1 ERCC1 ERCC2 XPA
32 mutagen sensitivity 10.1 ERCC2 XPA XPC
33 blood group, i system 10.0
34 neuronitis 10.0
35 allergic hypersensitivity disease 10.0
36 neuropathy 10.0
37 xeroderma pigmentosum, complementation group a 9.9
38 multiple mitochondrial dysfunctions syndrome 5 9.9
39 cerebritis 9.9
40 autosomal recessive disease 9.9 ERCC2 ERCC3 XPA
41 calciphylaxis 9.8
42 ataxia and polyneuropathy, adult-onset 9.8
43 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.8
44 nephrotic syndrome 9.8
45 ischemia 9.8
46 retinitis 9.8
47 xeroderma pigmentosum, complementation group e 9.8 DDB1 DDB2 ERCC5 XPA XPC
48 pfeiffer syndrome 9.7
49 tetralogy of fallot 9.7
50 down syndrome 9.7

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



Diseases related to Cockayne Syndrome

Symptoms & Phenotypes for Cockayne Syndrome

Human phenotypes related to Cockayne Syndrome:

55 31 (show top 50) (show all 63)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cryptorchidism 55 31 occasional (7.5%) Occasional (29-5%) HP:0000028
2 nephrotic syndrome 55 31 occasional (7.5%) Occasional (29-5%) HP:0000100
3 abnormality of the palate 55 31 occasional (7.5%) Occasional (29-5%) HP:0000174
4 oral cleft 55 31 occasional (7.5%) Occasional (29-5%) HP:0000202
5 microcephaly 55 31 hallmark (90%) Very frequent (99-80%) HP:0000252
6 macrotia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000400
7 sensorineural hearing impairment 55 31 hallmark (90%) Very frequent (99-80%) HP:0000407
8 strabismus 55 31 frequent (33%) Frequent (79-30%) HP:0000486
9 retinopathy 55 31 hallmark (90%) Very frequent (99-80%) HP:0000488
10 deeply set eye 55 31 hallmark (90%) Very frequent (99-80%) HP:0000490
11 cataract 55 31 occasional (7.5%) Occasional (29-5%) HP:0000518
12 microphthalmia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000568
13 optic atrophy 55 31 occasional (7.5%) Occasional (29-5%) HP:0000648
14 carious teeth 55 31 hallmark (90%) Very frequent (99-80%) HP:0000670
15 delayed eruption of teeth 55 31 occasional (7.5%) Occasional (29-5%) HP:0000684
16 decreased nerve conduction velocity 55 31 frequent (33%) Frequent (79-30%) HP:0000762
17 hypertension 55 31 frequent (33%) Frequent (79-30%) HP:0000822
18 platyspondyly 55 31 occasional (7.5%) Occasional (29-5%) HP:0000926
19 atypical scarring of skin 55 31 frequent (33%) Frequent (79-30%) HP:0000987
20 cutaneous photosensitivity 55 31 hallmark (90%) Very frequent (99-80%) HP:0000992
21 prominent superficial veins 55 31 frequent (33%) Frequent (79-30%) HP:0001015
22 large hands 55 31 frequent (33%) Frequent (79-30%) HP:0001176
23 intellectual disability 55 31 hallmark (90%) Very frequent (99-80%) HP:0001249
24 seizures 55 31 occasional (7.5%) Occasional (29-5%) HP:0001250
25 ataxia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001251
26 spasticity 55 31 hallmark (90%) Very frequent (99-80%) HP:0001257
27 mental deterioration 55 31 hallmark (90%) Very frequent (99-80%) HP:0001268
28 tremor 55 31 frequent (33%) Frequent (79-30%) HP:0001337
29 hyperreflexia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001347
30 joint stiffness 55 31 frequent (33%) Frequent (79-30%) HP:0001387
31 failure to thrive in infancy 55 31 hallmark (90%) Very frequent (99-80%) HP:0001531
32 hypertrophic cardiomyopathy 55 31 occasional (7.5%) Occasional (29-5%) HP:0001639
33 abnormality of the foot 55 31 frequent (33%) Frequent (79-30%) HP:0001760
34 cerebral cortical atrophy 55 31 frequent (33%) Frequent (79-30%) HP:0002120
35 fine hair 55 31 frequent (33%) Frequent (79-30%) HP:0002213
36 eeg abnormality 55 31 frequent (33%) Frequent (79-30%) HP:0002353
37 cerebral calcification 55 31 frequent (33%) Frequent (79-30%) HP:0002514
38 abnormality of pelvic girdle bone morphology 55 31 occasional (7.5%) Occasional (29-5%) HP:0002644
39 arthrogryposis multiplex congenita 55 31 occasional (7.5%) Occasional (29-5%) HP:0002804
40 kyphosis 55 31 frequent (33%) Frequent (79-30%) HP:0002808
41 short stature 55 31 hallmark (90%) Very frequent (99-80%) HP:0004322
42 abnormality of the sense of smell 55 31 hallmark (90%) Very frequent (99-80%) HP:0004408
43 generalized hyperpigmentation 55 31 frequent (33%) Frequent (79-30%) HP:0007440
44 prematurely aged appearance 55 31 hallmark (90%) Very frequent (99-80%) HP:0007495
45 abnormality of retinal pigmentation 55 31 occasional (7.5%) Occasional (29-5%) HP:0007703
46 aplasia/hypoplasia of the skin 55 31 frequent (33%) Frequent (79-30%) HP:0008065
47 abnormal blistering of the skin 55 31 hallmark (90%) Very frequent (99-80%) HP:0008066
48 sparse hair 55 31 frequent (33%) Frequent (79-30%) HP:0008070
49 peripheral neuropathy 55 31 hallmark (90%) Very frequent (99-80%) HP:0009830
50 erythema 55 31 frequent (33%) Frequent (79-30%) HP:0010783

GenomeRNAi Phenotypes related to Cockayne Syndrome according to GeneCards Suite gene sharing:

25 (show all 48)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-101 10.51 ERCC2
2 Increased shRNA abundance (Z-score > 2) GR00366-A-105 10.51 GTF2H2 ERCC1 ERCC8
3 Increased shRNA abundance (Z-score > 2) GR00366-A-107 10.51 DDB1 ERCC6
4 Increased shRNA abundance (Z-score > 2) GR00366-A-11 10.51 DDB1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-115 10.51 ERCC6 DDB1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-12 10.51 ERCC6
7 Increased shRNA abundance (Z-score > 2) GR00366-A-126 10.51 DDB1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-13 10.51 CD96
9 Increased shRNA abundance (Z-score > 2) GR00366-A-130 10.51 GTF2H2
10 Increased shRNA abundance (Z-score > 2) GR00366-A-132 10.51 TCEA1 GTF2H2 ERCC2 ERCC6
11 Increased shRNA abundance (Z-score > 2) GR00366-A-136 10.51 ERCC6
12 Increased shRNA abundance (Z-score > 2) GR00366-A-137 10.51 ERCC6
13 Increased shRNA abundance (Z-score > 2) GR00366-A-140 10.51 ERCC8
14 Increased shRNA abundance (Z-score > 2) GR00366-A-151 10.51 ERCC6
15 Increased shRNA abundance (Z-score > 2) GR00366-A-152 10.51 GTF2H2
16 Increased shRNA abundance (Z-score > 2) GR00366-A-159 10.51 ERCC2
17 Increased shRNA abundance (Z-score > 2) GR00366-A-16 10.51 TCEA1 ERCC6
18 Increased shRNA abundance (Z-score > 2) GR00366-A-161 10.51 ERCC1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-164 10.51 ERCC6
20 Increased shRNA abundance (Z-score > 2) GR00366-A-166 10.51 ERCC2
21 Increased shRNA abundance (Z-score > 2) GR00366-A-169 10.51 ERCC1
22 Increased shRNA abundance (Z-score > 2) GR00366-A-188 10.51 ERCC6
23 Increased shRNA abundance (Z-score > 2) GR00366-A-19 10.51 GTF2H2
24 Increased shRNA abundance (Z-score > 2) GR00366-A-199 10.51 ERCC8
25 Increased shRNA abundance (Z-score > 2) GR00366-A-2 10.51 ERCC6
26 Increased shRNA abundance (Z-score > 2) GR00366-A-201 10.51 ERCC2
27 Increased shRNA abundance (Z-score > 2) GR00366-A-207 10.51 TCEA1
28 Increased shRNA abundance (Z-score > 2) GR00366-A-208 10.51 ERCC6
29 Increased shRNA abundance (Z-score > 2) GR00366-A-214 10.51 TCEA1
30 Increased shRNA abundance (Z-score > 2) GR00366-A-23 10.51 ERCC6
31 Increased shRNA abundance (Z-score > 2) GR00366-A-25 10.51 GTF2H2 ERCC2
32 Increased shRNA abundance (Z-score > 2) GR00366-A-30 10.51 GTF2H2
33 Increased shRNA abundance (Z-score > 2) GR00366-A-31 10.51 GTF2H2
34 Increased shRNA abundance (Z-score > 2) GR00366-A-32 10.51 CD96
35 Increased shRNA abundance (Z-score > 2) GR00366-A-36 10.51 GTF2H2
36 Increased shRNA abundance (Z-score > 2) GR00366-A-37 10.51 ERCC8
37 Increased shRNA abundance (Z-score > 2) GR00366-A-4 10.51 ERCC2
38 Increased shRNA abundance (Z-score > 2) GR00366-A-42 10.51 TCEA1
39 Increased shRNA abundance (Z-score > 2) GR00366-A-43 10.51 TCEA1
40 Increased shRNA abundance (Z-score > 2) GR00366-A-44 10.51 ERCC6
41 Increased shRNA abundance (Z-score > 2) GR00366-A-52 10.51 TCEA1 ERCC8
42 Increased shRNA abundance (Z-score > 2) GR00366-A-54 10.51 TCEA1
43 Increased shRNA abundance (Z-score > 2) GR00366-A-57 10.51 TCEA1
44 Increased shRNA abundance (Z-score > 2) GR00366-A-63 10.51 GTF2H2 ERCC8 CD96 DDB1 ERCC1
45 Increased shRNA abundance (Z-score > 2) GR00366-A-74 10.51 TCEA1
46 Increased shRNA abundance (Z-score > 2) GR00366-A-80 10.51 ERCC2
47 Increased shRNA abundance (Z-score > 2) GR00366-A-85 10.51 ERCC1
48 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.36 XPA XPC ERCC8 ERCC2 GTF2H2 ERCC3

MGI Mouse Phenotypes related to Cockayne Syndrome:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.18 HPRT1 ERCC4 DDB1 DDB2 ERCC6 ERCC1
2 growth/size/body region MP:0005378 10.18 ERCC4 ERCC5 DDB2 ERCC6 ERCC1 ERCC8
3 integument MP:0010771 10.06 ERCC5 DDB2 ERCC6 ERCC1 ERCC8 ERCC2
4 mortality/aging MP:0010768 10 HPRT1 ERCC4 DDB1 ERCC5 DDB2 ERCC6
5 liver/biliary system MP:0005370 9.8 ERCC4 ERCC5 ERCC6 ERCC1 HPRT1 TCEA1
6 neoplasm MP:0002006 9.61 DDB2 ERCC6 ERCC1 ERCC8 ERCC2 ERCC3
7 vision/eye MP:0005391 9.23 DDB1 ERCC6 ERCC8 ERCC2 ERCC3 XPC

Drugs & Therapeutics for Cockayne Syndrome

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

(show all 10)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Mannitol Approved, Investigational Phase 1, Phase 2 69-65-8 6251 453
2
Everolimus Approved Phase 2 159351-69-6 6442177
3
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
4
Sirolimus Approved, Investigational Phase 2 53123-88-9 46835353 6436030 5284616
5 Pharmaceutical Solutions Phase 1, Phase 2
6 Anti-Bacterial Agents Phase 2
7 Antibiotics, Antitubercular Phase 2
8 Antifungal Agents Phase 2
9 Anti-Infective Agents Phase 2
10 Immunosuppressive Agents Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Pharmacokinetics and Safety Study of Single and Multiple Oral Doses Prodarsan™ in Patients With Cockayne Syndrome Completed NCT01142154 Phase 1, Phase 2 Prodarsan
2 Using Topical Sirolimus 2% for Patients With Epidermolysis Bullous Simplex (EBS) Study Recruiting NCT03016715 Phase 2 Sirolimus 2%;Vehicle
3 Using Topical Sirolimus 2% for Patients With Epidermolysis Bullous Simplex (EBS) Study Active, not recruiting NCT02960997 Phase 2 Sirolimus, 2%;Vehicle
4 Metabolic Study of Cockayne Syndrome Recruiting NCT03044210
5 Examination of Clinical and Laboratory Abnormalities in Patients With Defective DNA Repair: Xeroderma Pigmentosum, Cockayne Syndrome, or Trichothiodystrophy Recruiting NCT00001813
6 Observational Study to Assess Natural History in Cockayne Syndrome Patients Terminated NCT00985413

Search NIH Clinical Center for Cockayne Syndrome

Cochrane evidence based reviews: cockayne syndrome

Genetic Tests for Cockayne Syndrome

Genetic tests related to Cockayne Syndrome:

# Genetic test Affiliating Genes
1 Cockayne Syndrome 28

Anatomical Context for Cockayne Syndrome

MalaCards organs/tissues related to Cockayne Syndrome:

38
Brain, Bone, Skin, Eye, B Cells, Breast, Kidney

Publications for Cockayne Syndrome

Articles related to Cockayne Syndrome:

(show top 50) (show all 401)
# Title Authors Year
1
Cochlear implantation in pediatric patients with Cockayne Syndrome. ( 29447894 )
2018
2
Deep intronic variation in splicing regulatory element of the ERCC8 gene associated with severe but long-term survival Cockayne syndrome. ( 29422660 )
2018
3
A complex intragenic rearrangement of ERCC8 in Chinese siblings with Cockayne syndrome. ( 28333167 )
2017
4
Two novel mutations in ERCC6 cause Cockayne syndrome B in a Chinese family. ( 28440418 )
2017
5
Identification of one Novel complex delins mutation and one recurrent mutation of ERCC8 gene in a Chinese family with Cockayne Syndrome A. ( 28273366 )
2017
6
A Novel Mutation in ERCC8 Gene Causing Cockayne Syndrome. ( 28848724 )
2017
7
Cockayne syndrome B protein regulates recruitment of the Elongin A ubiquitin ligase to sites of DNA damage. ( 28292928 )
2017
8
Cockayne syndrome with intracranial calcification, hypomyelination, and cerebral atrophy. ( 28149095 )
2017
9
Xeroderma pigmentosum-Cockayne syndrome complex. ( 28376890 )
2017
10
Are parents of children with Cockayne syndrome manifesting features of the disorder?: Case reports. ( 29390291 )
2017
11
Renal Involvement in 2 Siblings With Cockayne Syndrome. ( 28575888 )
2017
12
Overexpression of parkin rescues the defective mitochondrial phenotype and the increased apoptosis of Cockayne Syndrome A cells. ( 29262528 )
2017
13
Molecular spectrum of excision repair cross-complementation group 8 gene defects in Chinese patients with Cockayne syndrome type A. ( 29057985 )
2017
14
Mutations in Cockayne Syndrome-Associated Genes (Csa and Csb) Predispose to Cisplatin-Induced Hearing Loss in Mice. ( 27122034 )
2016
15
PERIPHERAL RETINAL VASCULOPATHY IN COCKAYNE SYNDROME. ( 27124796 )
2016
16
Cockayne Syndrome: A Diffusion Tensor Imaging and Volumetric Study. ( 27643390 )
2016
17
Discrepancy between electroencephalography and hemodynamics in a patient with Cockayne syndrome during general anesthesia. ( 27871568 )
2016
18
Pharmacological Bypass of Cockayne Syndrome B Function in Neuronal Differentiation. ( 26972010 )
2016
19
Cockayne syndrome group A and B proteins converge on transcription-linked resolution of non-B DNA. ( 27791127 )
2016
20
Overexpression of parkin rescues the defective mitochondrial phenotype and the increased apoptosis of Cockayne Syndrome A cells. ( 27303919 )
2016
21
Cockayne syndrome type 3 (type C) - A disorder encountered rarely. ( 27727854 )
2016
22
Ocular findings in a patient with Cockayne syndrome with two mutations in the ERCC6 gene. ( 27186691 )
2016
23
A ubiquitylation site in Cockayne syndrome B required for repair of oxidative DNA damage, but not for transcription-coupled nucleotide excision repair. ( 27060134 )
2016
24
Elements That Regulate the DNA Damage Response of Proteins Defective in Cockayne Syndrome. ( 26616585 )
2016
25
UV-induced proteolysis of RNA polymerase II is mediated by VCP/p97 segregase and timely orchestration by Cockayne syndrome B protein. ( 28036256 )
2016
26
Cockayne syndrome: Clinical features, model systems and pathways. ( 27507608 )
2016
27
Valosin-containing Protein (VCP)/p97 Segregase Mediates Proteolytic Processing of Cockayne Syndrome Group B (CSB) in Damaged Chromatin. ( 26826127 )
2016
28
Absence of skin cancer in the DNA repair-deficient disease Cockayne Syndrome (CS): A survey study. ( 27185437 )
2016
29
Elevated Urinary Levels of 8-Hydroxy-2'-deoxyguanosine in a Japanese Child of Xeroderma Pigmentosum/Cockayne Syndrome Complex with Infantile Onset of Nephrotic Syndrome. ( 27396511 )
2016
30
The C-terminal Region and SUMOylation of Cockayne Syndrome Group B Protein Play Critical Roles in Transcription-coupled Nucleotide Excision Repair. ( 26620705 )
2016
31
Cockayne syndrome-derived neurons display reduced synapse density and altered neural network synchrony. ( 26755826 )
2016
32
Why Cockayne syndrome patients do not get cancer despite their DNA repair deficiency. ( 27543334 )
2016
33
Novel missense mutations in a conserved loop between ERCC6 (CSB) helicase motifs V and VI: Insights into Cockayne syndrome. ( 26749132 )
2016
34
DNA damage during the G0/G1 phase triggers RNA-templated, Cockayne syndrome B-dependent homologous recombination. ( 26100862 )
2015
35
Two Novel Heterozygous Mutations in ERCC8 Cause Cockayne Syndrome in a Chinese Patient. ( 26173784 )
2015
36
Teaching NeuroImages: Cockayne syndrome with extensive intracranial calcification. ( 25941205 )
2015
37
Reversal of mitochondrial defects with CSB-dependent serine protease inhibitors in patient cells of the progeroid Cockayne syndrome. ( 26038566 )
2015
38
Regulation of Transcription Elongation by the XPG-TFIIH Complex Is Implicated in Cockayne Syndrome. ( 26149386 )
2015
39
Pioglitazone improves fat tissue distribution and hyperglycemia in a case of cockayne syndrome with diabetes. ( 25908161 )
2015
40
Nationwide survey of Cockayne syndrome in Japan: its incidence, clinical course and prognosis. ( 25851792 )
2015
41
Metronidazole Toxicity in Cockayne Syndrome: A Case Series. ( 26304821 )
2015
42
Cockayne Syndrome due to a maternally-inherited whole gene deletion of ERCC8 and a paternally-inherited ERCC8 exon 4 deletion. ( 26210811 )
2015
43
Cockayne syndrome group B (csb) and group a (csa) deficiencies predispose to hearing loss and cochlear hair cell degeneration in mice. ( 25762674 )
2015
44
COCKAYNE SYNDROME: ROLE OF GENETIC COUNSELLING. ( 26721046 )
2015
45
Cockayne syndrome group B protein regulates DNA double-strand break repair and checkpoint activation. ( 25820262 )
2015
46
The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care. ( 26204423 )
2015
47
Identification of Novel Proteins Co-Purifying with Cockayne Syndrome Group B (CSB) Reveals Potential Roles for CSB in RNA Metabolism and Chromatin Dynamics. ( 26030138 )
2015
48
A unified model for the molecular basis of Xeroderma pigmentosum-Cockayne Syndrome. ( 26460500 )
2015
49
Cockayne syndrome protein A is a transcription factor of RNA polymerase I and stimulates ribosomal biogenesis and growth. ( 24781187 )
2014
50
Cockayne syndrome: varied requirement of transcription-coupled nucleotide excision repair for the removal of three structurally different adducts from transcribed DNA. ( 24713864 )
2014

Variations for Cockayne Syndrome

ClinVar genetic disease variations for Cockayne Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ERCC1 NM_202001.2(ERCC1): c.693C> G (p.Phe231Leu) single nucleotide variant Pathogenic rs121913028 GRCh37 Chromosome 19, 45918128: 45918128
2 CD96 CD96, EXONIC BREAKPOINT undetermined variant Pathogenic
3 CD96 NM_198196.2(CD96): c.839C> T (p.Thr280Met) single nucleotide variant Pathogenic rs119477056 GRCh37 Chromosome 3, 111304209: 111304209
4 ERCC1 NM_202001.2(ERCC1): c.676A> T (p.Lys226Ter) single nucleotide variant Pathogenic rs886039224 GRCh38 Chromosome 19, 45414887: 45414887
5 ERCC6 NM_000124.3(ERCC6): c.1589T> C (p.Leu530Pro) single nucleotide variant Likely pathogenic rs1057518910 GRCh37 Chromosome 10, 50708680: 50708680

Copy number variations for Cockayne Syndrome from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 42795 10 40200000 135534747 Copy number ERCC6 Cockayne syndrome

Expression for Cockayne Syndrome

Search GEO for disease gene expression data for Cockayne Syndrome.

Pathways for Cockayne Syndrome

Pathways related to Cockayne Syndrome according to KEGG:

36
# Name Kegg Source Accession
1 Nucleotide excision repair hsa03420

Pathways related to Cockayne Syndrome according to GeneCards Suite gene sharing:

(show all 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.03 DDB1 DDB2 ERCC1 ERCC2 ERCC3 ERCC4
2
Show member pathways
12.93 DDB2 ERCC2 ERCC3 GTF2H2 POLR2L TCEA1
3
Show member pathways
12.75 DDB2 ERCC2 ERCC3 GTF2H2 POLR2L TCEA1
4
Show member pathways
12.57 DDB1 DDB2 ERCC1 ERCC2 ERCC3 ERCC4
5
Show member pathways
12.56 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6
6 12.44 DDB1 DDB2 ERCC1 ERCC2 ERCC3 ERCC4
7
Show member pathways
12.16 ERCC2 ERCC3 GTF2H2 POLR2L
8 11.91 ERCC2 ERCC3 GTF2H2 XPA XPC
9
Show member pathways
11.85 ERCC2 ERCC3 ERCC6 GTF2H2 POLR2L
10 11.81 DDB2 ERCC5 XPC
11
Show member pathways
11.47 DDB1 DDB2 ERCC1 ERCC2 ERCC3 ERCC4
12 11.26 ERCC1 ERCC2 ERCC3 ERCC4 ERCC6 XPA

GO Terms for Cockayne Syndrome

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 9.86 DDB1 DDB2 ERCC1 ERCC2 ERCC3 ERCC4
2 nuclear chromosome, telomeric region GO:0000784 9.7 DDB1 ERCC1 ERCC4
3 Cul4-RING E3 ubiquitin ligase complex GO:0080008 9.61 DDB1 DDB2 ERCC8
4 core TFIIH complex GO:0000439 9.58 ERCC2 ERCC3 GTF2H2
5 transcription elongation factor complex GO:0008023 9.54 ERCC6 PGBD3
6 DNA replication factor A complex GO:0005662 9.51 ERCC5 XPA
7 nucleotide-excision repair complex GO:0000109 9.5 ERCC1 ERCC4 ERCC8
8 Cul4A-RING E3 ubiquitin ligase complex GO:0031464 9.49 DDB1 ERCC8
9 Cul4B-RING E3 ubiquitin ligase complex GO:0031465 9.48 DDB1 DDB2
10 ERCC4-ERCC1 complex GO:0070522 9.46 ERCC1 ERCC4
11 holo TFIIH complex GO:0005675 9.46 ERCC2 ERCC3 ERCC5 GTF2H2
12 nucleotide-excision repair factor 1 complex GO:0000110 9.43 ERCC1 ERCC4 XPA
13 transcription factor TFIID complex GO:0005669 9.1 ERCC1 ERCC2 ERCC3 ERCC4 GTF2H2 TCEA1
14 nucleus GO:0005634 10.32 DDB1 DDB2 ERCC1 ERCC2 ERCC3 ERCC4

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

(show all 46)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism growth GO:0035264 9.99 ERCC1 ERCC2 ERCC6 PGBD3 XPA
2 transcription initiation from RNA polymerase II promoter GO:0006367 9.98 ERCC2 ERCC3 GTF2H2 POLR2L
3 nucleotide-excision repair, DNA incision, 3-to lesion GO:0006295 9.97 DDB1 DDB2 ERCC1 ERCC2 ERCC3 ERCC4
4 UV-damage excision repair GO:0070914 9.95 DDB1 DDB2 ERCC1 XPA XPC
5 7-methylguanosine mRNA capping GO:0006370 9.92 ERCC2 ERCC3 GTF2H2 POLR2L
6 transcription initiation from RNA polymerase I promoter GO:0006361 9.91 ERCC2 ERCC3 GTF2H2 POLR2L
7 termination of RNA polymerase I transcription GO:0006363 9.91 ERCC2 ERCC3 GTF2H2 POLR2L
8 nucleotide-excision repair, preincision complex stabilization GO:0006293 9.91 DDB1 DDB2 ERCC1 ERCC2 ERCC3 ERCC4
9 response to X-ray GO:0010165 9.88 ERCC1 ERCC6 ERCC8 PGBD3
10 nucleotide-excision repair, DNA damage recognition GO:0000715 9.88 DDB1 DDB2 XPA XPC
11 response to toxic substance GO:0009636 9.87 ERCC6 PGBD3 XPA
12 regulation of mitotic cell cycle phase transition GO:1901990 9.87 DDB1 ERCC2 ERCC3 XPC
13 positive regulation of gene expression, epigenetic GO:0045815 9.86 ERCC6 PGBD3 POLR2L
14 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.85 ERCC6 PGBD3 XPA
15 base-excision repair GO:0006284 9.83 ERCC6 PGBD3 XPA
16 embryonic organ development GO:0048568 9.83 ERCC1 ERCC2 ERCC3
17 response to auditory stimulus GO:0010996 9.81 ERCC8 XPA XPC
18 nucleotide-excision repair, DNA incision, 5-to lesion GO:0006296 9.81 DDB1 DDB2 ERCC1 ERCC2 ERCC3 ERCC4
19 response to UV-B GO:0010224 9.8 ERCC6 PGBD3 XPC
20 pyrimidine dimer repair GO:0006290 9.77 DDB2 ERCC6 PGBD3
21 regulation of DNA-templated transcription, elongation GO:0032784 9.69 ERCC6 PGBD3
22 histone H2A monoubiquitination GO:0035518 9.69 DDB1 DDB2
23 positive regulation of DNA-templated transcription, elongation GO:0032786 9.69 ERCC6 PGBD3
24 activation of JNKK activity GO:0007256 9.68 ERCC6 PGBD3
25 response to superoxide GO:0000303 9.68 ERCC6 PGBD3
26 hair cell differentiation GO:0035315 9.67 ERCC2 ERCC3
27 lymphocyte proliferation GO:0046651 9.67 HELLS HPRT1
28 negative regulation of telomere maintenance GO:0032205 9.66 ERCC1 ERCC4
29 negative regulation of protection from non-homologous end joining at telomere GO:1905765 9.65 ERCC1 ERCC4
30 telomeric DNA-containing double minutes formation GO:0061819 9.65 ERCC1 ERCC4
31 nucleotide-excision repair involved in interstrand cross-link repair GO:1901255 9.64 ERCC4 XPA
32 nucleotide-excision repair, preincision complex assembly GO:0006294 9.56 DDB1 DDB2 ERCC2 ERCC3 ERCC5 GTF2H2
33 nucleotide-excision repair, DNA duplex unwinding GO:0000717 9.17 DDB1 DDB2 ERCC2 ERCC3 GTF2H2 XPA
34 DNA repair GO:0006281 10.36 DDB1 DDB2 ERCC1 ERCC2 ERCC3 ERCC4
35 transcription, DNA-templated GO:0006351 10.35 ERCC2 ERCC3 ERCC6 GTF2H2 HELLS PGBD3
36 cellular response to DNA damage stimulus GO:0006974 10.34 DDB1 DDB2 ERCC1 ERCC2 ERCC3 ERCC4
37 transcription-coupled nucleotide-excision repair GO:0006283 10.32 DDB1 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5
38 response to UV GO:0009411 10.2 DDB2 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6
39 transcription by RNA polymerase II GO:0006366 10.18 ERCC2 ERCC3 ERCC6 GTF2H2 PGBD3 POLR2L
40 nucleotide-excision repair GO:0006289 10.17 DDB1 DDB2 ERCC1 ERCC2 ERCC3 ERCC4
41 response to oxidative stress GO:0006979 10.1 ERCC1 ERCC2 ERCC3 ERCC6 ERCC8 PGBD3
42 global genome nucleotide-excision repair GO:0070911 10.06 DDB1 DDB2 ERCC1 ERCC2 ERCC3 ERCC4
43 transcription elongation from RNA polymerase II promoter GO:0006368 10.02 ERCC2 ERCC3 GTF2H2 POLR2L TCEA1
44 nucleotide-excision repair, DNA incision GO:0033683 10.02 DDB1 DDB2 ERCC1 ERCC2 ERCC3 ERCC4
45 transcription elongation from RNA polymerase I promoter GO:0006362 10.01 ERCC2 ERCC3 ERCC6 GTF2H2 PGBD3 POLR2L
46 UV protection GO:0009650 10 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 XPA

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 protein complex binding GO:0032403 9.85 DDB1 DDB2 ERCC6 ERCC8 PGBD3
2 protein C-terminus binding GO:0008022 9.8 ERCC1 ERCC2 ERCC3 ERCC4 ERCC6 PGBD3
3 helicase activity GO:0004386 9.77 ERCC2 ERCC3 ERCC6 HELLS PGBD3
4 nuclease activity GO:0004518 9.74 ERCC1 ERCC4 ERCC5
5 endonuclease activity GO:0004519 9.73 ERCC1 ERCC4 ERCC5
6 single-stranded DNA binding GO:0003697 9.73 ERCC1 ERCC4 ERCC5 XPC
7 protein N-terminus binding GO:0047485 9.7 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 GTF2H2
8 endodeoxyribonuclease activity GO:0004520 9.58 ERCC4 ERCC5
9 RNA polymerase II carboxy-terminal domain kinase activity GO:0008353 9.58 ERCC2 ERCC3 GTF2H2
10 protein tyrosine kinase activator activity GO:0030296 9.54 ERCC6 PGBD3
11 TFIID-class transcription factor binding GO:0001094 9.52 ERCC1 ERCC4
12 bubble DNA binding GO:0000405 9.51 ERCC5 XPC
13 3 overhang single-stranded DNA endodeoxyribonuclease activity GO:1990599 9.48 ERCC1 ERCC4
14 DNA-dependent ATPase activity GO:0008094 9.43 ERCC2 ERCC3 ERCC6 ERCC8 GTF2H2 PGBD3
15 damaged DNA binding GO:0003684 9.17 DDB1 DDB2 ERCC1 ERCC3 ERCC4 XPA
16 protein binding GO:0005515 10.45 DDB1 DDB2 ERCC1 ERCC2 ERCC3 ERCC4
17 hydrolase activity GO:0016787 10.15 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6
18 DNA binding GO:0003677 10.1 DDB1 DDB2 ERCC1 ERCC2 ERCC3 ERCC4

Sources for Cockayne Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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