CS
MCID: CCK001
MIFTS: 65

Cockayne Syndrome (CS)

Categories: Bone diseases, Cancer diseases, Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Cockayne Syndrome

MalaCards integrated aliases for Cockayne Syndrome:

Name: Cockayne Syndrome 12 76 24 53 25 59 37 29 55 6 44 15 73
Cockayne's Syndrome 12 76 53
Dwarfism-Retinal Atrophy-Deafness Syndrome 53 25
Neill-Dingwall Syndrome 12
Progeria-Like Syndrome 53
Progeroid Nanism 53
Cs 25

Characteristics:

Orphanet epidemiological data:

59
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 : 53 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.

MalaCards based summary : Cockayne Syndrome, also known as cockayne's syndrome, is related to cockayne syndrome type i and cockayne syndrome type iii. 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 Abstral and Adcetris have been mentioned in the context of this disorder. Affiliated tissues include bone, brain and skin, and related phenotypes are hypertension and intellectual disability

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 : 25 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 : 76 Cockayne syndrome (CS), also called Neill-Dingwall syndrome, is a rare and fatal autosomal recessive... more...

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 172)
# Related Disease Score Top Affiliating Genes
1 cockayne syndrome type i 34.2 ERCC4 ERCC6 ERCC8
2 cockayne syndrome type iii 34.2 ERCC6 ERCC8
3 cockayne syndrome type ii 34.1 ERCC1 ERCC6 ERCC8
4 cockayne syndrome b 34.0 ERCC6 ERCC8
5 cockayne syndrome a 34.0 ERCC2 ERCC4 ERCC5 ERCC6 ERCC8
6 xeroderma pigmentosum, complementation group g 32.8 DDB2 ERCC1 ERCC3 ERCC4 ERCC5 XPA
7 xeroderma pigmentosum, complementation group f 32.7 DDB2 ERCC1 ERCC2 ERCC4 ERCC5 XPA
8 xeroderma pigmentosum, complementation group b 32.6 ERCC1 ERCC2 ERCC3 ERCC5 XPA
9 xeroderma pigmentosum, complementation group d 32.2 ERCC1 ERCC2 ERCC3 XPA
10 cerebrooculofacioskeletal syndrome 1 32.2 ERCC2 ERCC5 ERCC6
11 cerebro-oculo-facio-skeletal syndrome 32.1 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6
12 uv-sensitive syndrome 30.0 ERCC2 ERCC3 ERCC5 ERCC6 ERCC8 PGBD3
13 xeroderma pigmentosum, complementation group c 29.9 DDB2 ERCC3 XPA XPC
14 xeroderma pigmentosum group e 29.7 DDB1 DDB2 XPA XPC
15 xeroderma pigmentosum, variant type 29.7 DDB1 DDB2 ERCC1 ERCC2 ERCC3 ERCC4
16 fanconi anemia, complementation group a 29.6 ERCC1 ERCC2 ERCC4 HELLS HPRT1
17 crouzon syndrome 11.6
18 cowden disease 11.5
19 primary pigmented nodular adrenocortical disease 11.5
20 acth-independent macronodular adrenal hyperplasia 11.4
21 cowden syndrome 1 11.3
22 cataract, microcephaly, failure to thrive, kyphoscoliosis syndrome 11.3
23 diabetes mellitus, noninsulin-dependent 11.2
24 mitochondrial metabolism disease 11.2
25 mucopolysaccharidosis, type vii 11.2
26 body mass index quantitative trait locus 11 11.2
27 anemia, sideroblastic, and spinocerebellar ataxia 11.2
28 carnitine palmitoyltransferase ii deficiency, infantile 11.2
29 cerebral creatine deficiency syndrome 2 11.2
30 cerebral creatine deficiency syndrome 11.2
31 bartonellosis 11.2
32 cat-scratch disease 11.2
33 critical illness polyneuropathy 11.2
34 leber hereditary optic neuropathy 11.2
35 epidermolysis bullosa simplex, localized 11.1
36 cerebrooculofacioskeletal syndrome 3 11.1
37 congenital intrauterine infection-like syndrome 11.1
38 crisponi/cold-induced sweating syndrome 1 11.1
39 progeroid short stature with pigmented nevi 11.0
40 flynn-aird syndrome 11.0
41 diabetes insipidus, nephrogenic, with mental retardation and intracerebral calcification 11.0
42 cerebrooculofacioskeletal syndrome 2 11.0
43 cerebrooculofacioskeletal syndrome 4 11.0
44 uv-sensitive syndrome 2 11.0
45 central nervous system disease 11.0
46 foxp2-related speech and language disorders 11.0
47 retinoblastoma 10.8
48 hutchinson-gilford progeria syndrome 10.3
49 aging 10.3
50 rheumatoid arthritis 10.2

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:

59 32 (show top 50) (show all 64)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertension 59 32 frequent (33%) Frequent (79-30%) HP:0000822
2 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
3 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
4 ataxia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001251
5 spasticity 59 32 hallmark (90%) Very frequent (99-80%) HP:0001257
6 tremor 59 32 frequent (33%) Frequent (79-30%) HP:0001337
7 hyperreflexia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001347
8 eeg abnormality 59 32 frequent (33%) Frequent (79-30%) HP:0002353
9 cerebral calcification 59 32 frequent (33%) Frequent (79-30%) HP:0002514
10 kyphosis 59 32 frequent (33%) Frequent (79-30%) HP:0002808
11 macrotia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000400
12 cataract 59 32 occasional (7.5%) Occasional (29-5%) HP:0000518
13 open bite 59 32 frequent (33%) Frequent (79-30%) HP:0010807
14 carious teeth 59 32 hallmark (90%) Very frequent (99-80%) HP:0000670
15 joint stiffness 59 32 frequent (33%) Frequent (79-30%) HP:0001387
16 microcephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000252
17 sensorineural hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000407
18 optic atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0000648
19 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
20 abnormality of retinal pigmentation 59 32 occasional (7.5%) Occasional (29-5%) HP:0007703
21 retinopathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0000488
22 fatigue 59 32 occasional (7.5%) Occasional (29-5%) HP:0012378
23 hypertrophic cardiomyopathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0001639
24 abnormal blistering of the skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0008066
25 peripheral neuropathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0009830
26 feeding difficulties 59 32 hallmark (90%) Very frequent (99-80%) HP:0011968
27 strabismus 59 32 frequent (33%) Frequent (79-30%) HP:0000486
28 delayed eruption of teeth 59 32 occasional (7.5%) Occasional (29-5%) HP:0000684
29 platyspondyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000926
30 decreased nerve conduction velocity 59 32 frequent (33%) Frequent (79-30%) HP:0000762
31 cryptorchidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000028
32 failure to thrive in infancy 59 32 hallmark (90%) Very frequent (99-80%) HP:0001531
33 atypical scarring of skin 59 32 frequent (33%) Frequent (79-30%) HP:0000987
34 abnormality of the foot 59 32 frequent (33%) Frequent (79-30%) HP:0001760
35 nephrotic syndrome 59 32 occasional (7.5%) Occasional (29-5%) HP:0000100
36 cerebral cortical atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0002120
37 arthrogryposis multiplex congenita 59 32 occasional (7.5%) Occasional (29-5%) HP:0002804
38 glomerulopathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0100820
39 microphthalmia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000568
40 deeply set eye 59 32 hallmark (90%) Very frequent (99-80%) HP:0000490
41 telangiectasia of the skin 59 32 occasional (7.5%) Occasional (29-5%) HP:0100585
42 prematurely aged appearance 59 32 hallmark (90%) Very frequent (99-80%) HP:0007495
43 aplasia/hypoplasia of the skin 59 32 frequent (33%) Frequent (79-30%) HP:0008065
44 fine hair 59 32 frequent (33%) Frequent (79-30%) HP:0002213
45 erythema 59 32 frequent (33%) Frequent (79-30%) HP:0010783
46 abnormality of pelvic girdle bone morphology 59 32 occasional (7.5%) Occasional (29-5%) HP:0002644
47 mental deterioration 59 32 hallmark (90%) Very frequent (99-80%) HP:0001268
48 cutaneous photosensitivity 59 32 hallmark (90%) Very frequent (99-80%) HP:0000992
49 abnormality of the sense of smell 59 32 hallmark (90%) Very frequent (99-80%) HP:0004408
50 generalized hyperpigmentation 59 32 frequent (33%) Frequent (79-30%) HP:0007440

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

26 (show all 41)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-101 10.48 ERCC2
2 Increased shRNA abundance (Z-score > 2) GR00366-A-105 10.48 GTF2H2
3 Increased shRNA abundance (Z-score > 2) GR00366-A-107 10.48 ERCC6
4 Increased shRNA abundance (Z-score > 2) GR00366-A-115 10.48 ERCC6
5 Increased shRNA abundance (Z-score > 2) GR00366-A-12 10.48 ERCC6
6 Increased shRNA abundance (Z-score > 2) GR00366-A-130 10.48 GTF2H2
7 Increased shRNA abundance (Z-score > 2) GR00366-A-132 10.48 ERCC2 ERCC6 GTF2H2 TCEA1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-136 10.48 ERCC6
9 Increased shRNA abundance (Z-score > 2) GR00366-A-137 10.48 ERCC6
10 Increased shRNA abundance (Z-score > 2) GR00366-A-151 10.48 ERCC6
11 Increased shRNA abundance (Z-score > 2) GR00366-A-152 10.48 GTF2H2
12 Increased shRNA abundance (Z-score > 2) GR00366-A-159 10.48 ERCC2
13 Increased shRNA abundance (Z-score > 2) GR00366-A-16 10.48 ERCC6 TCEA1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-164 10.48 ERCC6
15 Increased shRNA abundance (Z-score > 2) GR00366-A-166 10.48 ERCC2
16 Increased shRNA abundance (Z-score > 2) GR00366-A-188 10.48 ERCC6
17 Increased shRNA abundance (Z-score > 2) GR00366-A-19 10.48 GTF2H2
18 Increased shRNA abundance (Z-score > 2) GR00366-A-2 10.48 ERCC6
19 Increased shRNA abundance (Z-score > 2) GR00366-A-201 10.48 ERCC2
20 Increased shRNA abundance (Z-score > 2) GR00366-A-207 10.48 TCEA1
21 Increased shRNA abundance (Z-score > 2) GR00366-A-208 10.48 ERCC6
22 Increased shRNA abundance (Z-score > 2) GR00366-A-214 10.48 TCEA1
23 Increased shRNA abundance (Z-score > 2) GR00366-A-23 10.48 ERCC6
24 Increased shRNA abundance (Z-score > 2) GR00366-A-25 10.48 ERCC2 GTF2H2
25 Increased shRNA abundance (Z-score > 2) GR00366-A-30 10.48 GTF2H2
26 Increased shRNA abundance (Z-score > 2) GR00366-A-31 10.48 GTF2H2
27 Increased shRNA abundance (Z-score > 2) GR00366-A-36 10.48 GTF2H2
28 Increased shRNA abundance (Z-score > 2) GR00366-A-4 10.48 ERCC2
29 Increased shRNA abundance (Z-score > 2) GR00366-A-42 10.48 TCEA1
30 Increased shRNA abundance (Z-score > 2) GR00366-A-43 10.48 TCEA1
31 Increased shRNA abundance (Z-score > 2) GR00366-A-44 10.48 ERCC6
32 Increased shRNA abundance (Z-score > 2) GR00366-A-52 10.48 TCEA1
33 Increased shRNA abundance (Z-score > 2) GR00366-A-54 10.48 TCEA1
34 Increased shRNA abundance (Z-score > 2) GR00366-A-57 10.48 TCEA1
35 Increased shRNA abundance (Z-score > 2) GR00366-A-63 10.48 GTF2H2
36 Increased shRNA abundance (Z-score > 2) GR00366-A-74 10.48 TCEA1
37 Increased shRNA abundance (Z-score > 2) GR00366-A-80 10.48 ERCC2
38 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.77 DDB1 DDB2 ERCC1 ERCC2 ERCC3 ERCC4
39 Decreased HIV-1 infection GR00226-A 9.56 ERCC1 ERCC5 GTF2H2 XAB2
40 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.44 DDB2 ERCC1 ERCC4 ERCC5 ERCC6 ERCC8
41 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.44 DDB2 ERCC1 ERCC4 ERCC5 ERCC6 ERCC8

MGI Mouse Phenotypes related to Cockayne Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.18 DDB1 DDB2 ERCC1 ERCC2 ERCC3 ERCC4
2 growth/size/body region MP:0005378 10.18 DDB2 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5
3 integument MP:0010771 10.06 DDB2 ERCC1 ERCC2 ERCC3 ERCC5 ERCC6
4 mortality/aging MP:0010768 10.03 DDB1 DDB2 ERCC1 ERCC2 ERCC3 ERCC4
5 liver/biliary system MP:0005370 9.8 ERCC1 ERCC4 ERCC5 ERCC6 HPRT1 TCEA1
6 neoplasm MP:0002006 9.61 DDB2 ERCC1 ERCC2 ERCC3 ERCC6 ERCC8
7 vision/eye MP:0005391 9.23 DDB1 ERCC2 ERCC3 ERCC6 ERCC8 HPRT1

Drugs & Therapeutics for Cockayne Syndrome

FDA approved drugs:

(show top 50) (show all 104)
# Drug Name Active Ingredient(s) 18 Company Approval Date
1
Abstral 18 FENTANYL (citrate) ProStrakan January 2011
2
Adcetris 18 49 BRENTUXIMAB VEDOTIN Seattle Genetics August 2011
3
Aloxi 18 49 PALONOSETRON (hydrochloride) MGI Pharma, Helsinn Healthcare August 2003
4
Anexsia 18 ACETAMINOPHEN; HYDROCODONE BITARTRATE Mallinckrodt Group August 1996
5
Aredia 18 49 PAMIDRONATE DISODIUM Chiron August 1996
6
Bosulif 18 49 BOSUTINIB MONOHYDRATE Pfizer September 2012
7
Bromfenac 18 BROMFENAC SODIUM Duract, Wyeth-Ayerst Laboratories July 1997
8
CEA-Scan 18 Immunomedics April 1996
9
Clolar 18 49 CLOFARABINE Genzyme December, 2004
10
Degarelix 18 49 degarelix Ferring Pharmaceuticals December of 2008
11
Elitek 18 49 RASBURICASE sanofi-aventis October 2009
12
Feridex I.V. 18 FERUMOXIDES Advanced Magnetics February 1996
13
Folotyn 18 49 PRALATREXATE Allos Therapeutics September 2009
14
Gardasil 18 49 quadrivalent human papillomavirus (types 6, 11, 16, 18) recombinant vaccine Merck June 2006
15
GastroMARK 18 FERUMOXSIL Advanced Magnetics May 1996
16
Halaven 18 49 ERIBULIN MESYLATE Eisai November 2010
17
Imbruvica 18 49 IBRUTINIB Pharmacyclics November of 2013/February 2014
18
Intron A 18 49 INTERFERON ALFA-2B Schering-Plough December 1997/ December 1995/ March 1997
19
Iressa 18 49 GEFITINIB AstraZeneca May 2003
20
Istodax 18 49 ROMIDEPSIN Gloucester Pharmaceuticals November 2009
21
Ixempra 18 49 IXABEPILONE Bristol-Myers Squibb October 2007
22
Kadian 18 MORPHINE SULFATE Purepac Pharmaceutical July 1996
23
Marqibo 18 49 VINCRISTINE SULFATE Talon Therapeutics August 2012
24
Mozobil 18 49 PLERIXAFOR Genzyme December 2008
25
Neumega 18 OPRELVEKIN Genetics Institute November 1997
26
Nexavar 18 49 SORAFENIB TOSYLATE Bayer/Onyx December 2005
27
Onsolis 18 FENTANYL CITRATE BioDelivery Sciences July 2009
28
Photofrin 18 PORFIMER SODIUM QLT January 1998
29
Sancuso 18 GRANISETRON ProStrakan September 2008
30
Sprycel 18 49 DASATINIB Bristol-Myers Squibb June 2006
31
Subsys 18 FENTANYL Insys Therapeutics January of 2012
32
Sutent 18 49 SUNITINIB MALATE Pfizer May 2011/ January 2006
33
Synercid I.V. 18 DALFOPRISTIN; QUINUPRISTIN QUINUPRISTIN; DALFOPRISTIN Rhone Poulenc Rorer September 1999
34
Tasigna 18 49 NILOTINIB HYDROCHLORIDE MONOHYDRATE Novartis October 2007
35
Torisel 18 49 TEMSIROLIMUS Wyeth May 2007
36
Trelstar Depot/ Trelstar LA 18 TRIPTORELIN PAMOATE Debio Rechereche Pharmaceutique, Target Research Associates/ Debiopharm June 2000/ June 2001
37
Trisenox 18 49 ARSENIC TRIOXIDE Cell Therapeutics September 2000
38
Tykerb 18 49 LAPATINIB DITOSYLATE GlaxoSmithKline March 2007
39
Unituxin 18 49 DINUTUXIMAB United Therapeutics March 2015
40
UroXatral 18 ALFUZOSIN HYDROCHLORIDE Sanofi-aventis June 2003
41
Valchlor 18 MECHLORETHAMINE HYDROCHLORIDE Ceptaris Therapeutics August 2013
42
Vectibix 18 49 PANITUMUMAB Amgen September 2006
43
Xofigo 18 49 RADIUM RA-223 DICHLORIDE Bayer Healthcare Pharmaceuticals May 2013
44
Zuplenz 18 ONDANSETRON Strativa Pharmaceuticals July 2010
45
Advair 18 FLUTICASONE PROPIONATE; SALMETEROL XINAFOATE GlaxoSmithKline August 2000
46
Aldurazyme 18 LARONIDASE Genzyme May 2003
47
Alvesco 18 CICLESONIDE Nycomed January 2008
48
Anoro Ellipta 18 UMECLIDINIUM BROMIDE; VILANTEROL TRIFENATATE GlaxoSmithKline December of 2013
49
Arnuity Ellipta 18 FLUTICASONE FUROATE GlaxoSmithKline August 2014
50
Augmentin 18 AMOXICILLIN; CLAVULANATE POTASSIUM SmithKline Beecham February 1996

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

(show all 11)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Mannitol Approved, Investigational Phase 1, Phase 2 69-65-8 453 6251
2
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
3
Everolimus Approved Phase 2 159351-69-6 6442177
4
Sirolimus Approved, Investigational Phase 2 53123-88-9 46835353 6436030 5284616
5 Pharmaceutical Solutions Phase 1, Phase 2
6 Anti-Infective Agents Phase 2
7 Immunosuppressive Agents Phase 2
8 Immunologic Factors Phase 2
9 Antibiotics, Antitubercular Phase 2
10 Anti-Bacterial Agents Phase 2
11 Antifungal 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 Not Applicable
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 29

Anatomical Context for Cockayne Syndrome

MalaCards organs/tissues related to Cockayne Syndrome:

41
Bone, Brain, Skin, Eye, B Cells, Breast, Lung

Publications for Cockayne Syndrome

Articles related to Cockayne Syndrome:

(show top 50) (show all 500)
# Title Authors Year
1
Cochlear implantation in pediatric patients with Cockayne Syndrome. ( 29447894 )
2018
2
TRiC controls transcription resumption after UV damage by regulating Cockayne syndrome protein A. ( 29531219 )
2018
3
Deep intronic variation in splicing regulatory element of the ERCC8 gene associated with severe but long-term survival Cockayne syndrome. ( 29422660 )
2018
4
Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndrome. ( 29572252 )
2018
5
Generation of splice switching oligonucleotides targeting the Cockayne syndrome group B gene product in order to change the diseased cell state. ( 29625109 )
2018
6
Temporal Bone Histopathology in Cockayne Syndrome. ( 29649050 )
2018
7
Phenotypic variability in xeroderma pigmentosum group G: An uncommon case with severe prenatal-onset Cockayne syndrome features. ( 29749609 )
2018
8
Two Cockayne Syndrome Patients with a Novel Splice Site Mutation - Clinical and Metabolic Analyses. ( 29944916 )
2018
9
Cockayne Syndrome Misdiagnosed as Cerebral Palsy. ( 30279719 )
2018
10
Loss of Proteostasis Is a Pathomechanism in Cockayne Syndrome. ( 29742419 )
2018
11
Cockayne Syndrome Type A Protein Protects Primary Human Keratinocytes from Senescence. ( 30009828 )
2018
12
Mechanistic insights into the regulation of transcription and transcription-coupled DNA repair by Cockayne syndrome protein B. ( 30032309 )
2018
13
Exome sequencing revealed a novel deletion in the ERCC8 gene in an Iranian family with Cockayne syndrome. ( 30039856 )
2018
14
Cockayne Syndrome Complicated by Moyamoya Vasculopathy and Stroke. ( 30089552 )
2018
15
Novel frame shift mutation in ERCC6 leads to a severe form of Cockayne syndrome with postnatal growth failure and early death: A case report and brief literature review. ( 30113454 )
2018
16
HDAC inhibition improves autophagic and lysosomal function to prevent loss of subcutaneous fat in a mouse model of Cockayne syndrome. ( 30158153 )
2018
17
Repair protein persistence at DNA lesions characterizes XPF defect with Cockayne syndrome features. ( 30165384 )
2018
18
First molecular study in Lebanese patients with Cockayne syndrome and report of a novel mutation in ERCC8 gene. ( 30200888 )
2018
19
Cockayne syndrome in siblings. ( 30233029 )
2018
20
Poly(ADP-ribose) polymerase 1 (PARP1) promotes oxidative stress-induced association of Cockayne syndrome group B protein with chromatin. ( 30266807 )
2018
21
Xeroderma Pigmentosum - Cockayne Syndrome Complex (XP-CS) - Another case. ( 30317357 )
2018
22
The Cockayne syndrome protein B is involved in the repair of 5-AZA-2'-deoxycytidine-induced DNA lesions. ( 30416680 )
2018
23
Regulation of the Intranuclear Distribution of the Cockayne Syndrome Proteins. ( 30504782 )
2018
24
Two novel mutations in ERCC6 cause Cockayne syndrome B in a Chinese family. ( 28440418 )
2017
25
Identification of one Novel complex delins mutation and one recurrent mutation of ERCC8 gene in a Chinese family with Cockayne Syndrome A. ( 28273366 )
2017
26
Cockayne syndrome with intracranial calcification, hypomyelination, and cerebral atrophy. ( 28149095 )
2017
27
Are parents of children with Cockayne syndrome manifesting features of the disorder?: Case reports. ( 29390291 )
2017
28
Overexpression of parkin rescues the defective mitochondrial phenotype and the increased apoptosis of Cockayne Syndrome A cells. ( 29262528 )
2017
29
Renal Involvement in 2 Siblings With Cockayne Syndrome. ( 28575888 )
2017
30
Molecular spectrum of excision repair cross-complementation group 8 gene defects in Chinese patients with Cockayne syndrome type A. ( 29057985 )
2017
31
A Novel Mutation in ERCC8 Gene Causing Cockayne Syndrome. ( 28848724 )
2017
32
A complex intragenic rearrangement of ERCC8 in Chinese siblings with Cockayne syndrome. ( 28333167 )
2017
33
Cockayne syndrome B protein regulates recruitment of the Elongin A ubiquitin ligase to sites of DNA damage. ( 28292928 )
2017
34
Xeroderma pigmentosum-Cockayne syndrome complex. ( 28376890 )
2017
35
Cockayne's Syndrome A and B Proteins Regulate Transcription Arrest after Genotoxic Stress by Promoting ATF3 Degradation. ( 29225035 )
2017
36
Mutations in Cockayne Syndrome-Associated Genes (Csa and Csb) Predispose to Cisplatin-Induced Hearing Loss in Mice. ( 27122034 )
2016
37
Cockayne syndrome group A and B proteins converge on transcription-linked resolution of non-B DNA. ( 27791127 )
2016
38
Elements That Regulate the DNA Damage Response of Proteins Defective in Cockayne Syndrome. ( 26616585 )
2016
39
A ubiquitylation site in Cockayne syndrome B required for repair of oxidative DNA damage, but not for transcription-coupled nucleotide excision repair. ( 27060134 )
2016
40
Ocular findings in a patient with Cockayne syndrome with two mutations in the ERCC6 gene. ( 27186691 )
2016
41
Cockayne syndrome type 3 (type C) - A disorder encountered rarely. ( 27727854 )
2016
42
The C-terminal Region and SUMOylation of Cockayne Syndrome Group B Protein Play Critical Roles in Transcription-coupled Nucleotide Excision Repair. ( 26620705 )
2016
43
Overexpression of parkin rescues the defective mitochondrial phenotype and the increased apoptosis of Cockayne Syndrome A cells. ( 27303919 )
2016
44
Novel missense mutations in a conserved loop between ERCC6 (CSB) helicase motifs V and VI: Insights into Cockayne syndrome. ( 26749132 )
2016
45
Discrepancy between electroencephalography and hemodynamics in a patient with Cockayne syndrome during general anesthesia. ( 27871568 )
2016
46
PERIPHERAL RETINAL VASCULOPATHY IN COCKAYNE SYNDROME. ( 27124796 )
2016
47
Cockayne syndrome-derived neurons display reduced synapse density and altered neural network synchrony. ( 26755826 )
2016
48
Pharmacological Bypass of Cockayne Syndrome B Function in Neuronal Differentiation. ( 26972010 )
2016
49
Cockayne Syndrome: A Diffusion Tensor Imaging and Volumetric Study. ( 27643390 )
2016
50
Cockayne syndrome: Clinical features, model systems and pathways. ( 27507608 )
2016

Variations for Cockayne Syndrome

ClinVar genetic disease variations for Cockayne Syndrome:

6 (show top 50) (show all 450)
# Gene Variation Type Significance SNP ID Assembly Location
1 ERCC6 NM_000124.3(ERCC6): c.3284C> G (p.Pro1095Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs4253208 GRCh37 Chromosome 10, 50678722: 50678722
2 ERCC6 NM_000124.3(ERCC6): c.3284C> G (p.Pro1095Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs4253208 GRCh38 Chromosome 10, 49470676: 49470676
3 ERCC4 NM_005236.2(ERCC4): c.2395C> T (p.Arg799Trp) single nucleotide variant Uncertain significance rs121913049 GRCh37 Chromosome 16, 14041848: 14041848
4 ERCC4 NM_005236.2(ERCC4): c.2395C> T (p.Arg799Trp) single nucleotide variant Uncertain significance rs121913049 GRCh38 Chromosome 16, 13947991: 13947991
5 ERCC1 NM_202001.2(ERCC1): c.693C> G (p.Phe231Leu) single nucleotide variant Pathogenic rs121913028 GRCh37 Chromosome 19, 45918128: 45918128
6 ERCC1 NM_202001.2(ERCC1): c.693C> G (p.Phe231Leu) single nucleotide variant Pathogenic rs121913028 GRCh38 Chromosome 19, 45414870: 45414870
7 ERCC4 NM_005236.2(ERCC4): c.1765C> T (p.Arg589Trp) single nucleotide variant Likely pathogenic rs147105770 GRCh37 Chromosome 16, 14029554: 14029554
8 ERCC4 NM_005236.2(ERCC4): c.1765C> T (p.Arg589Trp) single nucleotide variant Likely pathogenic rs147105770 GRCh38 Chromosome 16, 13935697: 13935697
9 ERCC4 NM_005236.2(ERCC4): c.2624A> G (p.Glu875Gly) single nucleotide variant Benign/Likely benign rs1800124 GRCh37 Chromosome 16, 14042077: 14042077
10 ERCC4 NM_005236.2(ERCC4): c.2624A> G (p.Glu875Gly) single nucleotide variant Benign/Likely benign rs1800124 GRCh38 Chromosome 16, 13948220: 13948220
11 ERCC6 NM_000124.3(ERCC6): c.1196G> A (p.Gly399Asp) single nucleotide variant Benign rs2228528 GRCh37 Chromosome 10, 50732280: 50732280
12 ERCC6 NM_000124.3(ERCC6): c.1196G> A (p.Gly399Asp) single nucleotide variant Benign rs2228528 GRCh38 Chromosome 10, 49524234: 49524234
13 ERCC6 NM_000124.3(ERCC6): c.135C> G (p.Leu45=) single nucleotide variant Benign rs2228524 GRCh37 Chromosome 10, 50740876: 50740876
14 ERCC6 NM_000124.3(ERCC6): c.135C> G (p.Leu45=) single nucleotide variant Benign rs2228524 GRCh38 Chromosome 10, 49532830: 49532830
15 ERCC6 NM_000124.3(ERCC6): c.2751C> T (p.Gly917=) single nucleotide variant Benign rs2229760 GRCh37 Chromosome 10, 50681033: 50681033
16 ERCC6 NM_000124.3(ERCC6): c.2751C> T (p.Gly917=) single nucleotide variant Benign rs2229760 GRCh38 Chromosome 10, 49472987: 49472987
17 ERCC6 NM_000124.3(ERCC6): c.3289A> G (p.Met1097Val) single nucleotide variant Benign rs2228526 GRCh37 Chromosome 10, 50678717: 50678717
18 ERCC6 NM_000124.3(ERCC6): c.3289A> G (p.Met1097Val) single nucleotide variant Benign rs2228526 GRCh38 Chromosome 10, 49470671: 49470671
19 ERCC6 NM_000124.3(ERCC6): c.3637A> G (p.Arg1213Gly) single nucleotide variant Benign rs2228527 GRCh37 Chromosome 10, 50678369: 50678369
20 ERCC6 NM_000124.3(ERCC6): c.3637A> G (p.Arg1213Gly) single nucleotide variant Benign rs2228527 GRCh38 Chromosome 10, 49470323: 49470323
21 ERCC6 NM_000124.3(ERCC6): c.3689G> C (p.Arg1230Pro) single nucleotide variant Benign rs4253211 GRCh37 Chromosome 10, 50678317: 50678317
22 ERCC6 NM_000124.3(ERCC6): c.3689G> C (p.Arg1230Pro) single nucleotide variant Benign rs4253211 GRCh38 Chromosome 10, 49470271: 49470271
23 ERCC6 NM_000124.3(ERCC6): c.411G> A (p.Leu137=) single nucleotide variant Benign rs4253013 GRCh37 Chromosome 10, 50740600: 50740600
24 ERCC6 NM_000124.3(ERCC6): c.411G> A (p.Leu137=) single nucleotide variant Benign rs4253013 GRCh38 Chromosome 10, 49532554: 49532554
25 ERCC6 NM_000124.3(ERCC6): c.4238A> G (p.Gln1413Arg) single nucleotide variant Benign rs2228529 GRCh37 Chromosome 10, 50667105: 50667105
26 ERCC6 NM_000124.3(ERCC6): c.4238A> G (p.Gln1413Arg) single nucleotide variant Benign rs2228529 GRCh38 Chromosome 10, 49459059: 49459059
27 ERCC8; NDUFAF2 NM_174889.4(NDUFAF2): c.60G> A (p.Lys20=) single nucleotide variant Benign rs158921 GRCh37 Chromosome 5, 60241142: 60241142
28 ERCC8; NDUFAF2 NM_174889.4(NDUFAF2): c.60G> A (p.Lys20=) single nucleotide variant Benign rs158921 GRCh38 Chromosome 5, 60945315: 60945315
29 ERCC4 NM_005236.2(ERCC4): c.16C> T (p.Pro6Ser) single nucleotide variant Uncertain significance rs61760160 GRCh37 Chromosome 16, 14014038: 14014038
30 ERCC4 NM_005236.2(ERCC4): c.16C> T (p.Pro6Ser) single nucleotide variant Uncertain significance rs61760160 GRCh38 Chromosome 16, 13920181: 13920181
31 ERCC4 NM_005236.2(ERCC4): c.1984T> C (p.Ser662Pro) single nucleotide variant Benign/Likely benign rs2020955 GRCh37 Chromosome 16, 14038659: 14038659
32 ERCC4 NM_005236.2(ERCC4): c.1984T> C (p.Ser662Pro) single nucleotide variant Benign/Likely benign rs2020955 GRCh38 Chromosome 16, 13944802: 13944802
33 ERCC4 NM_005236.2(ERCC4): c.2617A> G (p.Ile873Val) single nucleotide variant Benign/Likely benign rs2020957 GRCh37 Chromosome 16, 14042070: 14042070
34 ERCC4 NM_005236.2(ERCC4): c.2617A> G (p.Ile873Val) single nucleotide variant Benign/Likely benign rs2020957 GRCh38 Chromosome 16, 13948213: 13948213
35 ERCC4 NM_005236.2(ERCC4): c.2545C> G (p.Gln849Glu) single nucleotide variant Likely benign rs374186605 GRCh37 Chromosome 16, 14041998: 14041998
36 ERCC4 NM_005236.2(ERCC4): c.2545C> G (p.Gln849Glu) single nucleotide variant Likely benign rs374186605 GRCh38 Chromosome 16, 13948141: 13948141
37 ERCC4 NM_005236.2(ERCC4): c.2579C> A (p.Ala860Asp) single nucleotide variant Likely benign rs4986933 GRCh37 Chromosome 16, 14042032: 14042032
38 ERCC4 NM_005236.2(ERCC4): c.2579C> A (p.Ala860Asp) single nucleotide variant Likely benign rs4986933 GRCh38 Chromosome 16, 13948175: 13948175
39 ERCC4 NM_005236.2(ERCC4): c.2734G> A (p.Gly912Arg) single nucleotide variant Likely benign rs150077735 GRCh37 Chromosome 16, 14042187: 14042187
40 ERCC4 NM_005236.2(ERCC4): c.2734G> A (p.Gly912Arg) single nucleotide variant Likely benign rs150077735 GRCh38 Chromosome 16, 13948330: 13948330
41 ERCC4 NM_005236.2(ERCC4): c.2117T> C (p.Ile706Thr) single nucleotide variant Uncertain significance rs1800069 GRCh37 Chromosome 16, 14041570: 14041570
42 ERCC4 NM_005236.2(ERCC4): c.2117T> C (p.Ile706Thr) single nucleotide variant Uncertain significance rs1800069 GRCh38 Chromosome 16, 13947713: 13947713
43 ERCC4 NM_005236.2(ERCC4): c.217A> G (p.Ile73Val) single nucleotide variant Uncertain significance rs141591400 GRCh37 Chromosome 16, 14015897: 14015897
44 ERCC4 NM_005236.2(ERCC4): c.217A> G (p.Ile73Val) single nucleotide variant Uncertain significance rs141591400 GRCh38 Chromosome 16, 13922040: 13922040
45 ERCC4 NM_005236.2(ERCC4): c.241G> T (p.Val81Phe) single nucleotide variant Likely benign rs55761944 GRCh37 Chromosome 16, 14015921: 14015921
46 ERCC4 NM_005236.2(ERCC4): c.241G> T (p.Val81Phe) single nucleotide variant Likely benign rs55761944 GRCh38 Chromosome 16, 13922064: 13922064
47 ERCC4 NM_005236.2(ERCC4): c.1135C> T (p.Pro379Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs1799802 GRCh37 Chromosome 16, 14028081: 14028081
48 ERCC4 NM_005236.2(ERCC4): c.1135C> T (p.Pro379Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs1799802 GRCh38 Chromosome 16, 13934224: 13934224
49 ERCC4 NM_005236.2(ERCC4): c.1488A> T (p.Gln496His) single nucleotide variant Likely benign rs146601373 GRCh37 Chromosome 16, 14029277: 14029277
50 ERCC4 NM_005236.2(ERCC4): c.1488A> T (p.Gln496His) single nucleotide variant Likely benign rs146601373 GRCh38 Chromosome 16, 13935420: 13935420

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:

37
# 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
13.06 DDB1 DDB2 ERCC1 ERCC2 ERCC3 ERCC4
2
Show member pathways
12.83 ERCC2 ERCC3 GTF2H2 POLR2L TCEA1 TCEA3
3
Show member pathways
12.77 DDB2 ERCC2 ERCC3 GTF2H2 POLR2L TCEA1
4
Show member pathways
12.6 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6
5
Show member pathways
12.59 DDB1 DDB2 ERCC1 ERCC2 ERCC3 ERCC4
6 12.44 DDB1 DDB2 ERCC1 ERCC2 ERCC3 ERCC4
7 11.94 ERCC2 ERCC3 GTF2H2 XPA XPC
8
Show member pathways
11.85 ERCC2 ERCC3 ERCC6 GTF2H2 POLR2L
9 11.82 DDB1 DDB2 ERCC8
10 11.56 ERCC2 ERCC3 GTF2H2 XPA 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 13)
# Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 9.89 DDB1 DDB2 ERCC1 ERCC2 ERCC3 ERCC4
2 nuclear chromosome, telomeric region GO:0000784 9.7 DDB1 ERCC1 ERCC4
3 transcription factor TFIID complex GO:0005669 9.63 ERCC1 ERCC2 ERCC3 ERCC4 GTF2H2 TCEA1
4 Cul4-RING E3 ubiquitin ligase complex GO:0080008 9.61 DDB1 DDB2 ERCC8
5 transcription factor TFIIH holo complex GO:0005675 9.58 ERCC2 ERCC3 GTF2H2
6 transcription factor TFIIH core complex GO:0000439 9.54 ERCC2 ERCC3 GTF2H2
7 DNA replication factor A complex GO:0005662 9.51 ERCC5 XPA
8 nucleotide-excision repair factor 1 complex GO:0000110 9.5 ERCC1 ERCC4 XPA
9 Cul4A-RING E3 ubiquitin ligase complex GO:0031464 9.49 DDB1 ERCC8
10 Cul4B-RING E3 ubiquitin ligase complex GO:0031465 9.48 DDB1 DDB2
11 ERCC4-ERCC1 complex GO:0070522 9.46 ERCC1 ERCC4
12 nucleotide-excision repair complex GO:0000109 9.02 ERCC1 ERCC4 ERCC5 ERCC8 XPC
13 nucleus GO:0005634 10.23 DDB1 DDB2 ERCC1 ERCC2 ERCC3 ERCC4

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

(show all 48)
# Name GO ID Score Top Affiliating Genes
1 transcription initiation from RNA polymerase II promoter GO:0006367 9.99 ERCC2 ERCC3 GTF2H2 POLR2L
2 transcription elongation from RNA polymerase II promoter GO:0006368 9.97 ERCC2 ERCC3 GTF2H2 POLR2L TCEA1
3 UV protection GO:0009650 9.97 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 XPA
4 global genome nucleotide-excision repair GO:0070911 9.97 DDB1 DDB2 ERCC1 ERCC2 ERCC3 ERCC4
5 DNA duplex unwinding GO:0032508 9.96 ERCC2 ERCC3 ERCC6 ERCC8 PGBD3
6 7-methylguanosine mRNA capping GO:0006370 9.92 ERCC2 ERCC3 GTF2H2 POLR2L
7 transcription initiation from RNA polymerase I promoter GO:0006361 9.91 ERCC2 ERCC3 GTF2H2 POLR2L
8 termination of RNA polymerase I transcription GO:0006363 9.91 ERCC2 ERCC3 GTF2H2 POLR2L
9 UV-damage excision repair GO:0070914 9.91 DDB1 DDB2 ERCC1 XPA XPC
10 nucleotide-excision repair, DNA incision GO:0033683 9.91 DDB1 DDB2 ERCC1 ERCC2 ERCC3 ERCC4
11 response to toxic substance GO:0009636 9.88 ERCC6 PGBD3 XPA
12 nucleotide-excision repair, DNA damage recognition GO:0000715 9.88 DDB1 DDB2 XPA XPC
13 response to X-ray GO:0010165 9.87 ERCC1 ERCC6 ERCC8 PGBD3
14 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.86 ERCC6 PGBD3 XPA
15 base-excision repair GO:0006284 9.85 ERCC6 PGBD3 XPA
16 response to UV-B GO:0010224 9.85 DDB2 ERCC6 PGBD3 XPC
17 regulation of mitotic cell cycle phase transition GO:1901990 9.84 DDB1 ERCC2 ERCC3 XPC
18 embryonic organ development GO:0048568 9.83 ERCC1 ERCC2 ERCC3
19 positive regulation of gene expression, epigenetic GO:0045815 9.83 ERCC6 PGBD3 POLR2L
20 nucleotide-excision repair, DNA incision, 5'-to lesion GO:0006296 9.81 DDB1 DDB2 ERCC1 ERCC2 ERCC3 ERCC4
21 response to auditory stimulus GO:0010996 9.8 ERCC8 XPA XPC
22 pyrimidine dimer repair GO:0006290 9.8 DDB2 ERCC6 PGBD3
23 nucleotide-excision repair, DNA incision, 3'-to lesion GO:0006295 9.77 ERCC1 ERCC4 ERCC5
24 positive regulation of DNA-templated transcription, elongation GO:0032786 9.7 ERCC6 PGBD3
25 activation of JNKK activity GO:0007256 9.7 ERCC6 PGBD3
26 histone H2A monoubiquitination GO:0035518 9.7 DDB1 DDB2
27 regulation of DNA-templated transcription, elongation GO:0032784 9.69 ERCC6 PGBD3
28 hair cell differentiation GO:0035315 9.69 ERCC2 ERCC3
29 response to superoxide GO:0000303 9.69 ERCC6 PGBD3
30 lymphocyte proliferation GO:0046651 9.68 HELLS HPRT1
31 negative regulation of telomere maintenance GO:0032205 9.68 ERCC1 ERCC4
32 regulation of mitotic recombination GO:0000019 9.67 ERCC2 ERCC3
33 negative regulation of protection from non-homologous end joining at telomere GO:1905765 9.67 ERCC1 ERCC4
34 telomeric DNA-containing double minutes formation GO:0061819 9.66 ERCC1 ERCC4
35 transcription elongation from RNA polymerase I promoter GO:0006362 9.66 ERCC6 PGBD3
36 nucleotide-excision repair involved in interstrand cross-link repair GO:1901255 9.65 ERCC4 XPA
37 nucleotide-excision repair, DNA duplex unwinding GO:0000717 9.64 ERCC2 ERCC3
38 nucleotide-excision repair, preincision complex stabilization GO:0006293 9.61 DDB1 DDB2 ERCC1 ERCC2 ERCC3 ERCC4
39 nucleotide-excision repair, preincision complex assembly GO:0006294 9.23 DDB1 DDB2 ERCC2 ERCC3 ERCC5 GTF2H2
40 cellular response to DNA damage stimulus GO:0006974 10.35 DDB1 DDB2 ERCC1 ERCC2 ERCC3 ERCC4
41 DNA repair GO:0006281 10.33 DDB1 DDB2 ERCC1 ERCC2 ERCC3 ERCC4
42 transcription-coupled nucleotide-excision repair GO:0006283 10.31 DDB1 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5
43 transcription by RNA polymerase II GO:0006366 10.18 ERCC2 ERCC3 ERCC6 GTF2H2 PGBD3 POLR2L
44 nucleotide-excision repair GO:0006289 10.14 DDB1 DDB2 ERCC1 ERCC2 ERCC3 ERCC4
45 response to UV GO:0009411 10.11 DDB2 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6
46 response to oxidative stress GO:0006979 10.07 ERCC1 ERCC2 ERCC3 ERCC6 ERCC8 PGBD3
47 transcription, DNA-templated GO:0006351 10.04 GTF2H2 POLR2L TCEA1 TCEA3 XAB2
48 multicellular organism growth GO:0035264 10 ERCC1 ERCC2 ERCC6 PGBD3 XPA

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 protein-containing complex binding GO:0044877 9.87 DDB1 DDB2 ERCC5 ERCC6 ERCC8 PGBD3
2 protein C-terminus binding GO:0008022 9.85 ERCC1 ERCC2 ERCC3 ERCC4 ERCC6 PGBD3
3 helicase activity GO:0004386 9.8 ERCC2 ERCC3 ERCC6 HELLS PGBD3
4 single-stranded DNA binding GO:0003697 9.78 ERCC1 ERCC4 ERCC5 XPC
5 nuclease activity GO:0004518 9.76 ERCC1 ERCC4 ERCC5
6 endonuclease activity GO:0004519 9.74 ERCC1 ERCC4 ERCC5
7 protein N-terminus binding GO:0047485 9.7 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 GTF2H2
8 RNA polymerase II CTD heptapeptide repeat kinase activity GO:0008353 9.63 ERCC2 ERCC3 GTF2H2
9 DNA helicase activity GO:0003678 9.59 ERCC6 ERCC8
10 endodeoxyribonuclease activity GO:0004520 9.58 ERCC4 ERCC5
11 protein tyrosine kinase activator activity GO:0030296 9.56 ERCC6 PGBD3
12 TFIID-class transcription factor complex binding GO:0001094 9.55 ERCC1 ERCC4
13 single-stranded DNA endodeoxyribonuclease activity GO:0000014 9.54 ERCC1 ERCC4
14 bubble DNA binding GO:0000405 9.51 ERCC5 XPC
15 3' overhang single-stranded DNA endodeoxyribonuclease activity GO:1990599 9.49 ERCC1 ERCC4
16 DNA-dependent ATPase activity GO:0008094 9.43 ERCC2 ERCC3 ERCC6 ERCC8 GTF2H2 PGBD3
17 damaged DNA binding GO:0003684 9.23 DDB1 DDB2 ERCC1 ERCC2 ERCC3 ERCC4
18 protein binding GO:0005515 10.41 DDB1 DDB2 ERCC1 ERCC2 ERCC3 ERCC4
19 hydrolase activity GO:0016787 10.13 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6
20 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
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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