MCID: CCK001
MIFTS: 59

Cockayne Syndrome malady

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

Aliases & Classifications for Cockayne Syndrome

About this section
Sources:
11Disease Ontology, 13DISEASES, 23GeneReviews, 24GeneTests, 25Genetics Home Reference, 27GTR, 30ICD10, 31ICD10 via Orphanet, 39MeSH, 40MESH via Orphanet, 45NCIt, 48NIH Rare Diseases, 50Novoseek, 54Orphanet, 62SNOMED-CT, 68UMLS, 69UMLS via Orphanet, 71Wikipedia
See all MalaCards sources

Aliases & Descriptions for Cockayne Syndrome:

Name: Cockayne Syndrome 11 71 23 48 24 25 54 50 39 13 68
Cockayne's Syndrome 11 48 27
Dwarfism-Retinal Atrophy-Deafness Syndrome 48 25
Dwarfism with Retinal Atrohpy and Deafness 24
Deafness-Dwarfism-Retinal Atrophy 24
 
Neill-Dingwall Syndrome 11
Progeria-Like Syndrome 48
Progeroid Nanism 48
Cs 25

Characteristics:

Orphanet epidemiological data:

54
cockayne syndrome:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: All ages; Age of death: any age

Classifications:



External Ids:

Disease Ontology11 DOID:2962
ICD1030 Q87.1
MeSH39 D003057
NCIt45 C9460
SNOMED-CT62 205832003, 21086008
Orphanet54 ORPHA191
MESH via Orphanet40 D003057
UMLS via Orphanet69 C0009207
ICD10 via Orphanet31 Q87.1

Summaries for Cockayne Syndrome

About this section
NIH Rare Diseases:48 Cockayne syndrome is a rare condition which causes short stature, premature aging (progeria), severe photosensitivity, and moderate to severe learning delay. This syndrome also includes failure to thrive in the newborn, microcephaly, and impaired nervous system development. Other symptoms may include hearing loss, tooth decay, and eye and bone abnormalities.  Cockayne syndrome type 1 (type A) is sometimes called “classic” or moderate Cockayne syndrome and is diagnosed during early childhood. Cockayne syndrome type 2 (type B) is sometimes referred to as the “severe” or early-onset type. This more severe form presents with growth and developmental abnormalities at birth. The third type, Cockayne syndrome type 3 (type C) is a milder form of the disorder. Cockayne syndrome is caused by mutations in either the ERCC8 (CSA) or ERCC6 (CSB) genes and is inherited in an autosomal recessive pattern. The typical lifespan for individuals with Cockayne syndrome type 1 is ten to twenty years. Individuals with type 2 usually do not survive past childhood. Those with type 3 live into middle adulthood. Last updated: 10/26/2015

MalaCards based summary: Cockayne Syndrome, also known as cockayne's syndrome, is related to cockayne syndrome type iii and xeroderma pigmentosum, group b, and has symptoms including microcephaly, abnormality of the nose and macrotia. An important gene associated with Cockayne Syndrome is ERCC1 (ERCC Excision Repair 1, Endonuclease Non-Catalytic Subunit), and among its related pathways are p53 Pathway (RnD) and Transcription_P53 signaling pathway. Affiliated tissues include skin, brain and eye, and related mouse phenotypes are Increased viability with MLN4924 (a NAE inhibitor) and Increased shRNA abundance (Z-score > 2).

Disease Ontology:11 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:71 Cockayne syndrome (CS), also called Neill-Dingwall syndrome, is a rare and fatal autosomal recessive... more...

GeneReviews for NBK1342

Related Diseases for Cockayne Syndrome

About this section

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 70)
idRelated DiseaseScoreTop Affiliating Genes
1cockayne syndrome type iii33.8ERCC1, ERCC6, ERCC8
2xeroderma pigmentosum, group b32.8ERCC2, ERCC3, HELLS
3uv-sensitive syndrome 231.8ERCC6, ERCC8
4cerebrooculofacioskeletal syndrome 231.8ERCC2, ERCC3, XPC
5cerebrooculofacioskeletal syndrome 131.7ERCC6, ERCC8
6xeroderma pigmentosum, group c30.1DDB2, ERCC5, XPC
7cockayne syndrome, type a12.3
8cockayne syndrome, type b12.2
9cockayne syndrome type ii12.0
10cockayne syndrome type i12.0
11xeroderma pigmentosum-cockayne syndrome complex11.9
12ercc6-related cockayne syndrome11.8
13ercc8-related cockayne syndrome11.8
14xeroderma pigmentosum, group g11.7
15xeroderma pigmentosum, group f11.7
16xeroderma pigmentosum, group d11.2
17cerebrooculofacioskeletal syndrome 310.9
18epidermolysis bullosa simplex, weber-cockayne type10.9
19cerebrooculofacioskeletal syndrome 410.8
20cataract-microcephaly-failure to thrive-kyphoscoliosis10.8
21progeroid short stature with pigmented nevi10.7
22cone-rod dystrophy x-linked 210.6ERCC6, ERCC8
23may-thurner syndrome10.6ERCC4, ERCC6, ERCC8
24de sanctis-cacchione syndrome10.5ERCC2, ERCC5, ERCC6
253-methylglutaconic aciduria, type i10.4ERCC4, XPA, XPC
26combined hyperactive dysfunction syndrome of the cranial nerves10.4ERCC2, ERCC3, ERCC4, ERCC5
27acrodermatitis enteropathica10.3ERCC1, ERCC2, ERCC3
28myasthenia gravis, limb-girdle10.3ERCC2, XPA, XPC
29exostoses, multiple, type 210.3DDB1, DDB2, XPC
30pancreatic cystadenoma10.3ERCC1, ERCC4, XPA
31autosomal genetic disease10.2ERCC2, ERCC3, XPA
32fanconi anemia, complementation group q10.1ERCC1, ERCC4
33cerebrospinal fluid leak10.1ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6
343-methylglutaconic aciduria, type iii10.1ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, XPA
35lymphedema-distichiasis syndrome10.0ERCC1, ERCC2, ERCC4, HELLS, HPRT1
36uv-sensitive syndrome10.0
37neuronitis10.0
38neuropathy9.9
39xeroderma pigmentosum, group a9.9
40calciphylaxis9.8
41stuttering9.8ERCC2, ERCC3, ERCC5, ERCC6, ERCC8, PGBD3
42ischemia9.8
43cerebritis9.8
44retinitis9.8
45ataxia9.8
46lung cancer9.6
47tetralogy of fallot9.6
48pfeiffer syndrome9.6
49ataxia-telangiectasia9.6
50cataract9.6

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



Diseases related to cockayne syndrome

Symptoms & Phenotypes for Cockayne Syndrome

About this section

Human phenotypes related to Cockayne Syndrome:

 64 54 (show all 71)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 microcephaly64 54 hallmark (90%) Very frequent (99-80%) HP:0000252
2 abnormality of the nose64 54 hallmark (90%) Very frequent (99-80%) HP:0000366
3 macrotia64 54 hallmark (90%) Very frequent (99-80%) HP:0000400
4 sensorineural hearing impairment64 54 hallmark (90%) Very frequent (99-80%) HP:0000407
5 retinopathy64 54 hallmark (90%) Very frequent (99-80%) HP:0000488
6 deeply set eye64 54 hallmark (90%) Very frequent (99-80%) HP:0000490
7 carious teeth64 54 hallmark (90%) Very frequent (99-80%) HP:0000670
8 cutaneous photosensitivity64 54 hallmark (90%) Very frequent (99-80%) HP:0000992
9 hypertonia64 hallmark (90%) HP:0001276
10 hyperreflexia64 54 hallmark (90%) Very frequent (99-80%) HP:0001347
11 incoordination64 hallmark (90%) HP:0002311
12 short stature64 54 hallmark (90%) Very frequent (99-80%) HP:0004322
13 prematurely aged appearance64 54 hallmark (90%) Very frequent (99-80%) HP:0007495
14 abnormal blistering of the skin64 54 hallmark (90%) Very frequent (99-80%) HP:0008066
15 peripheral neuropathy64 54 hallmark (90%) Very frequent (99-80%) HP:0009830
16 cognitive impairment64 hallmark (90%) HP:0100543
17 strabismus64 54 typical (50%) Frequent (79-30%) HP:0000486
18 chorioretinal abnormality64 54 typical (50%) Frequent (79-30%) HP:0000532
19 dental malocclusion64 typical (50%) HP:0000689
20 decreased nerve conduction velocity64 54 typical (50%) Frequent (79-30%) HP:0000762
21 hypertension64 54 typical (50%) Frequent (79-30%) HP:0000822
22 atypical scarring of skin64 54 typical (50%) Frequent (79-30%) HP:0000987
23 large hands64 54 typical (50%) Frequent (79-30%) HP:0001176
24 tremor64 54 typical (50%) Frequent (79-30%) HP:0001337
25 limitation of joint mobility64 typical (50%) HP:0001376
26 disproportionate tall stature64 typical (50%) HP:0001519
27 abnormality of the foot64 54 typical (50%) Frequent (79-30%) HP:0001760
28 cerebral cortical atrophy64 54 typical (50%) Frequent (79-30%) HP:0002120
29 fine hair64 54 typical (50%) Frequent (79-30%) HP:0002213
30 eeg abnormality64 54 typical (50%) Frequent (79-30%) HP:0002353
31 cerebral calcification64 54 typical (50%) Frequent (79-30%) HP:0002514
32 kyphosis64 54 typical (50%) Frequent (79-30%) HP:0002808
33 generalized hyperpigmentation64 54 typical (50%) Frequent (79-30%) HP:0007440
34 aplasia/hypoplasia of the skin64 54 typical (50%) Frequent (79-30%) HP:0008065
35 abnormal hair quantity64 typical (50%) HP:0011362
36 cryptorchidism64 54 occasional (7.5%) Occasional (29-5%) HP:0000028
37 nephrotic syndrome64 54 occasional (7.5%) Occasional (29-5%) HP:0000100
38 abnormality of the palate64 54 occasional (7.5%) Occasional (29-5%) HP:0000174
39 oral cleft64 54 occasional (7.5%) Occasional (29-5%) HP:0000202
40 cataract64 54 occasional (7.5%) Occasional (29-5%) HP:0000518
41 optic atrophy64 54 occasional (7.5%) Occasional (29-5%) HP:0000648
42 delayed eruption of teeth64 54 occasional (7.5%) Occasional (29-5%) HP:0000684
43 platyspondyly64 54 occasional (7.5%) Occasional (29-5%) HP:0000926
44 seizures64 54 occasional (7.5%) Occasional (29-5%) HP:0001250
45 hypertrophic cardiomyopathy64 54 occasional (7.5%) Occasional (29-5%) HP:0001639
46 abnormality of pelvic girdle bone morphology64 54 occasional (7.5%) Occasional (29-5%) HP:0002644
47 arthrogryposis multiplex congenita64 54 occasional (7.5%) Occasional (29-5%) HP:0002804
48 abnormality of retinal pigmentation64 54 occasional (7.5%) Occasional (29-5%) HP:0007703
49 aplasia/hypoplasia affecting the eye64 occasional (7.5%) HP:0008056
50 telangiectasia of the skin64 occasional (7.5%) HP:0100585
51 breast aplasia64 54 occasional (7.5%) Occasional (29-5%) HP:0100783
52 glomerulopathy64 54 occasional (7.5%) Occasional (29-5%) HP:0100820
53 abnormality of the kidney54 Frequent (79-30%)
54 hearing impairment54 Frequent (79-30%)
55 microphthalmia54 Occasional (29-5%)
56 prominent superficial veins54 Frequent (79-30%)
57 intellectual disability54 Very frequent (99-80%)
58 ataxia54 Very frequent (99-80%)
59 spasticity54 Very frequent (99-80%)
60 mental deterioration54 Very frequent (99-80%)
61 joint stiffness54 Frequent (79-30%)
62 failure to thrive in infancy54 Very frequent (99-80%)
63 abnormality of the hair54 Occasional (29-5%)
64 abnormality of the sense of smell54 Very frequent (99-80%)
65 sparse hair54 Frequent (79-30%)
66 erythema54 Frequent (79-30%)
67 open bite54 Frequent (79-30%)
68 feeding difficulties54 Very frequent (99-80%)
69 fatigue54 Occasional (29-5%)
70 abnormality of movement54 Frequent (79-30%)
71 teleangiectasia of the skin54 Occasional (29-5%)

UMLS symptoms related to Cockayne Syndrome:


hyperexplexia

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

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00250-A-38.5DDB1, DDB2, ERCC1, ERCC2, ERCC3, ERCC4
2GR00366-A-358.5CD96, DDB1, ERCC1, ERCC8, GTF2H2, ERCC2

MGI Mouse Phenotypes related to Cockayne Syndrome according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053709.5ERCC1, ERCC4, ERCC5, ERCC6, HPRT1, TCEA1
2MP:00053919.3DDB1, ERCC2, ERCC6, ERCC8, HPRT1, XPA
3MP:00020069.1DDB2, ERCC1, ERCC2, ERCC3, ERCC6, ERCC8
4MP:00107718.7DDB2, ERCC1, ERCC2, ERCC3, ERCC5, ERCC6
5MP:00053848.3DDB1, DDB2, ERCC1, ERCC2, ERCC3, ERCC4
6MP:00053788.1DDB2, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5
7MP:00107687.5DDB1, DDB2, ERCC1, ERCC2, ERCC3, ERCC4

Drugs & Therapeutics for Cockayne Syndrome

About this section

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

(show all 10)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Mannitolapproved, investigationalPhase 1, Phase 226869-65-8453, 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
2
Miconazoleapproved, investigational, vet_approvedPhase 2362422916-47-84189
Synonyms:
(+-)-1-(2,4-Dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl)imidazole
1-(2,4-Dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl)imidazole
1-(2,4-dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl) imidazole
1-[2,4-Dichloro- beta-([2,4-dichloro- benzyl]oxy)phenethyl]imidazole
1-[2-(2,4-Dichloro-benzyloxy)-2-(2,4-dichloro-phenyl)-ethyl]-1H-imidazole
1-[2-(2,4-Dichlorophenyl)-2-[(2,4-dichlorophenyl)methoxy]ethyl]-1H-imidazole
1-[2-(2,4-dichlorobenzyloxy)-2-(2,4-dichlorophenyl)ethyl]-1H-imidazole
1-[2-(2,4-dichlorophenyl)-2-[(2,4-dichlorophenyl)methoxy]ethyl]imidazole
1-[2-(2,4-dichlorophenyl)-2-{[(2,4-dichlorophenyl)methyl]oxy}ethyl]-1H-imidazole
1-{2-[(2,4-dichlorobenzyl)oxy]-2-(2,4-dichlorophenyl)ethyl}-1H-imidazole
22832-87-7 (NITRATE)
22916-47-8
75319-47-0
AB00053500
AC1L1HM1
AKOS001574474
Aflorix(nitrate)
Albistat(nitrate)
Andergin(nitrate)
BPBio1_000279
BRD-A82396632-001-03-0
BRD-A82396632-008-02-7
BRN 0965511
BSPBio_000253
BSPBio_002033
CCRIS 7924
CHEBI:6923
CHEMBL91
CID4189
CPD-4501
Conofite(nitrate)
D00416
DB01110
Dactarin
Daktarin IV
Daktarin iv
DivK1c_000156
EINECS 245-324-5
Epi-Monistat(nitrate)
Femizol-M
Florid(nitrate)
Gyno-Daktar(nitrate)
HMS1568M15
HMS2090B21
I14-14342
IDI1_000156
Imidazole, 1-(2-(2,4-dichlorophenyl)-2-((2,4-dichlorophenyl)methoxy)ethyl)- (9CI)
KBio1_000156
KBio2_001445
KBio2_004013
KBio2_006581
KBio3_001533
KBioGR_000581
KBioSS_001445
LS-78378
Lotrimin AF(nitrate)
MCZ
MJR 1762
MLS002222203
Micantin (nitrate)
Miconasil Nitrate
 
Miconazol
Miconazol [INN-Spanish]
Miconazole
Miconazole (JP15/USP/INN)
Miconazole 3
Miconazole 3 Combination Pack
Miconazole 7 Combination Pack
Miconazole [USAN:BAN:INN:JAN]
Miconazole nitrate salt
Miconazole-7
Miconazolo
Miconazolo [DCIT]
Miconazolum
Miconazolum [INN-Latin]
Micozole
Minostate
MolPort-002-557-553
Monazole 7
Monista (nitrate)
Monistat
Monistat (TN)
Monistat 1 Combination Pack
Monistat 3 Dual-Pak
Monistat 3 Vaginal Ovules
Monistat 5 Tampon
Monistat 7 Dual-Pak
Monistat 7 Vaginal Suppositories
Monistat Dual- PAK
Monistat IV
Monistat iv (TN)
Monistat iv (tn)
Monistat-Derm
NCI60_001353
NCI60_001380
NINDS_000156
NSC 170986
NSC169434
NSC170986
Novo-Miconazole Vaginal Ovules
Oprea1_091955
Prestwick0_000067
Prestwick1_000067
Prestwick2_000067
Prestwick3_000067
Prestwick_335
R 18134
R-14,889
SMR001307249
SPBio_000976
SPBio_002174
STK834405
STOCK1S-93556
Spectrum2_001048
Spectrum3_000507
Spectrum4_000061
Spectrum5_001297
Spectrum_000965
UNII-7NNO0D7S5M
Vusion
Zimycan
imidazole, 1-(2-(2,4-dichlorophenyl)-2-((2,4-dichlorophenyl) methoxy)ethyl)- (9CI)
miconazole
3
Sirolimusapproved, investigationalPhase 2189653123-88-95284616, 6436030, 46835353
Synonyms:
(-)-Rapamycin
(-)-rapamycin
1fkb
1pbk
23,27-Epoxy-3H-pyrido(2,1-c)(1,4)oxaazacyclohentriacontine
23,27-Epoxy-3H-pyrido[2,1-c][1,4]oxaazacyclohentriacontine
23,27-epoxy-3H-pyrido[2,1-c][1,4]oxaazacyclohentriacontine-1,5,11,28,29
3H-pyrido(2,1-c)(1,4)oxaazacyclohentriacontine-1,5,11,28,29(4H,6H,31H)-pentone
53123-88-9
A422989, NSC226080
AC-722
AC1L1JH9
AC1L7MJ9
AC1L9ZMV
AY 22989
AY-22989
AY22989
Ambotz53123-88-9
Antibiotic AY 22989
BIDD:PXR0165
Bio1_000293
Bio1_000782
Bio1_001271
Bio2_000375
Bio2_000855
BiomolKI2_000084
C07909
C51H79NO13
CBiol_002007
CCRIS 9024
CHEBI:100923
CHEBI:9168
CHEMBL413
CID10213190
CID10795871
CID11949238
CID11959112
CID313006
CID478951
CID5040
CID5284616
CID5358081
CID5374464
CID5460439
CID5497196
CID5924240
CID6436030
CID6610270
CID6610346
CID6711160
CID6713081
CID9833581
CID9854379
CID9854380
CID9962926
CID9962928
D00753
DB00877
DE-109
DivK1c_006936
 
FT-0082351
HMS2089A21
HSDB 7284
KBio1_001880
KBio2_000410
KBio2_002978
KBio2_005546
KBio3_000779
KBio3_000780
KBioGR_000410
KBioSS_000410
LCP-Siro
LMPK06000003
LS-143290
MLS000028373
MS-R001
MolMap_000043
MolPort-003-959-433
NCGC00021305-05
NCI60_001851
NCIMech_000355
NSC 226080
NSC226080
Perceiva
QTL1_000069
R0395_SIAL
R0395_SIGMA
RAP
RAPA
RPM
Rapammune
Rapamune
Rapamune (TN)
Rapamycin
Rapamycin (TN)
Rapamycin C-7, analog 4
Rapamycin Immunosuppressant Drug
Rapamycin from Streptomyces hygroscopicus
S1039_Selleck
SIIA 9268A
SILA 9268A
SILA9268A
SMP1_000255
SMR000058564
Sirolimus
Sirolimus (RAPAMUNE)
Sirolimus (USAN/INN)
Sirolimus [USAN:BAN:INN]
Sirolimus, Rapamune,Rapamycin
SpecPlus_000840
UNII-W36ZG6FT64
UNM-0000358684
WY-090217
Wy 090217
heptadecahydro-9,27-dihydroxy-3-[(1R)-2-[(1S,3R,4R)-4-hydroxy
nchembio.100-comp4
nchembio.2007.42-comp2
nchembio.79-comp1
nchembio762-comp1
nchembio883-comp3
rapamycin
sirolimus
4
EverolimusapprovedPhase 21896159351-69-66442177
Synonyms:
(1R,9S,12S,15R,16E,18R,19R,21R,23S,24E,26E,28E,30S,32S,35R)-1,18-Dihydroxy-12-((1R)-2-((1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl)-1-methylethyl)-19,30-dimethoxy-15,17,21,23,29,35-hexamethyl-11,36-dioxa-4-azatricyclo(30.3.1.0(sup 4,9))hexatriaconta-16,24,26,28-tetraene-2,3,10,14,20-pentaone
(1R,9S,12S,15R,16E,18R,19R,21R,23S,24E,26E,28E,30S,32S,35R)-1,18-Dihydroxy-12-((1R)-2-((1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl)-1-methylethyl)-19,30-dimethoxy-15,17,21,23,29,35-hexamethyl-11,36-dioxa-4-azatricyclo(30.3.1.04,9)hexatriaconta-16,24,26,28-tetraene-2,3,10,14,20-pentaone
(1R,9S,12S,15R,16E,23S,18R,19R,21R,23S,24E,26E,28E,30S,32S,35R)-1,18-dihydroxy-12-((1R)-2-((1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl)-1-methylethyl)-19,30-dimethoxy-15,17,21,23,29,35-hexamethyl-11,36-dioxa-4-azatricyclo(30.3.1.0(sup 4,9))hexatriacont
(3S,6R,7E,9R,10R,12R,14S,15E,17E,19E,21S,23S,26R,27R,34aS)-9,10,12,13,14,21,22,23,24,25,26,27,32,33,34,34a-Hexadecahydro-9,27-dihydroxy-3-((1R)-2-((1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl)-1-methylethyl)-10,21-dimethoxy-6,8,12,14,20,26-hexamethyl-23,27-epoxy-3H-pyrido(2,1-c)(1,4)oxaazacyclohentriacontine-1,5,11,28,29(4H,6H,31H)-pentone
(3S,6R,7E,9R,10R,12R,14S,15E,17E,19E,21S,23S,26R,27R,34aS)-9,27-dihydroxy-3-{(2R)-1-[(1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl]propan-2-yl}-10,21-dimethoxy-6,8,12,14,20,26-hexamethyl-9,10,12,13,14,21,22,23,24,25,26,27,32,33,34,34a-hexadecahydro-3H-23,27-epoxypyrido[2,1-c][1,4]oxazacyclohentriacontine-1,5,11,28,29(4H,6H,31H)-pentone
(3S,6R,7E,9R,10R,12R,14S,15E,17E,19E,21S,23S,26R,27R,34as)-9,10,12,13,14,21,22,23,24,25,26,27,32,33,34,34a-hexadecahydro-9,27-dihydroxy-3-((1R)-2-((1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl)-1-methylethyl)-10,21-dimethoxy-6,8,12,14,20,26-hexamethy
07741_FLUKA
159351-69-6
40-O-(2-hydroxyethyl)-rapamycin
42-O-(2-Hydroxyethyl)rapamycin
Afinitor
CERTICAN(R)
CHEMBL1201755
Certican
D02714
DB01590
 
Everolimus
Everolimus (JAN/USAN/INN)
Everolimus [USAN]
LS-143292
MolPort-003-847-342
MolPort-003-925-588
NCGC00167512-01
NVP-RAD-001
RAD 001
RAD-001
RAD-001C
RAD001
RAD001, SDZ-RAD, Certican, Zortress, Afinitor, Everolimus
S1120_Selleck
SDZ-RAD
UNII-9HW64Q8G6G
Zortress
everolimus
5Pharmaceutical SolutionsPhase 1, Phase 27793
6Immunosuppressive AgentsPhase 212770
7Antifungal AgentsPhase 23615
8Anti-Bacterial AgentsPhase 210884
9Antibiotics, AntitubercularPhase 26972
10Anti-Infective AgentsPhase 221402

Interventional clinical trials:

idNameStatusNCT IDPhase
1Pharmacokinetics and Safety Study of Single and Multiple Oral Doses Prodarsan™ in Patients With Cockayne SyndromeCompletedNCT01142154Phase 1, Phase 2
2Using Topical Sirolimus 2% for Patients With Epidermolysis Bullous Simplex (EBS) StudyRecruitingNCT03016715Phase 2
3Using Topical Sirolimus 2% for Patients With Epidermolysis Bullous Simplex (EBS) StudyRecruitingNCT02960997Phase 2
4Examination of Clinical and Laboratory Abnormalities in Patients With Defective DNA Repair: Xeroderma Pigmentosum, Cockayne Syndrome, or TrichothiodystrophyRecruitingNCT00001813
5Observational 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

About this section

Genetic tests related to Cockayne Syndrome:

id Genetic test Affiliating Genes
1 Cockayne Syndrome27 24 ERCC8

Anatomical Context for Cockayne Syndrome

About this section

MalaCards organs/tissues related to Cockayne Syndrome:

36
Skin, Brain, Eye, Bone, B cells, Breast, Kidney

Publications for Cockayne Syndrome

About this section

Articles related to Cockayne Syndrome:

(show top 50)    (show all 388)
idTitleAuthorsYear
1
Novel missense mutations in a conserved loop between ERCC6 (CSB) helicase motifs V and VI: Insights into Cockayne syndrome. (26749132)
2016
2
Discrepancy between electroencephalography and hemodynamics in a patient with Cockayne syndrome during general anesthesia. (27871568)
2016
3
The C-terminal Region and SUMOylation of Cockayne Syndrome Group B Protein Play Critical Roles in Transcription-coupled Nucleotide Excision Repair. (26620705)
2016
4
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
5
Absence of skin cancer in the DNA repair-deficient disease Cockayne Syndrome (CS): A survey study. (27185437)
2016
6
Cockayne Syndrome: A Diffusion Tensor Imaging and Volumetric Study. (27643390)
2016
7
Why Cockayne syndrome patients do not get cancer despite their DNA repair deficiency. (27543334)
2016
8
Ocular findings in a patient with Cockayne syndrome with two mutations in the ERCC6 gene. (27186691)
2016
9
Elements That Regulate the DNA Damage Response of Proteins Defective in Cockayne Syndrome. (26616585)
2016
10
Cockayne syndrome-derived neurons display reduced synapse density and altered neural network synchrony. (26755826)
2016
11
Valosin-containing Protein (VCP)/p97 Segregase Mediates Proteolytic Processing of Cockayne Syndrome Group B (CSB) in Damaged Chromatin. (26826127)
2016
12
Mutations in Cockayne Syndrome-Associated Genes (Csa and Csb) Predispose to Cisplatin-Induced Hearing Loss in Mice. (27122034)
2016
13
Cockayne syndrome: Clinical features, model systems and pathways. (27507608)
2016
14
Cockayne syndrome group A and B proteins converge on transcription-linked resolution of non-B DNA. (27791127)
2016
15
Pharmacological Bypass of Cockayne Syndrome B Function in Neuronal Differentiation. (26972010)
2016
16
UV-induced proteolysis of RNA polymerase II is mediated by VCP/p97 segregase and timely orchestration by Cockayne syndrome B protein. (28036256)
2016
17
A ubiquitylation site in Cockayne syndrome B required for repair of oxidative DNA damage, but not for transcription-coupled nucleotide excision repair. (27060134)
2016
18
PERIPHERAL RETINAL VASCULOPATHY IN COCKAYNE SYNDROME. (27124796)
2016
19
Cockayne syndrome type 3 (type C) - A disorder encountered rarely. (27727854)
2016
20
Overexpression of parkin rescues the defective mitochondrial phenotype and the increased apoptosis of Cockayne Syndrome A cells. (27303919)
2016
21
The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care. (26204423)
2015
22
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
23
Cockayne syndrome group B protein regulates DNA double-strand break repair and checkpoint activation. (25820262)
2015
24
Reversal of mitochondrial defects with CSB-dependent serine protease inhibitors in patient cells of the progeroid Cockayne syndrome. (26038566)
2015
25
Metronidazole Toxicity in Cockayne Syndrome: A Case Series. (26304821)
2015
26
Pioglitazone improves fat tissue distribution and hyperglycemia in a case of cockayne syndrome with diabetes. (25908161)
2015
27
DNA damage during the G0/G1 phase triggers RNA-templated, Cockayne syndrome B-dependent homologous recombination. (26100862)
2015
28
Two Novel Heterozygous Mutations in ERCC8 Cause Cockayne Syndrome in a Chinese Patient. (26173784)
2015
29
Teaching NeuroImages: Cockayne syndrome with extensive intracranial calcification. (25941205)
2015
30
Cockayne syndrome group B (csb) and group a (csa) deficiencies predispose to hearing loss and cochlear hair cell degeneration in mice. (25762674)
2015
31
Regulation of Transcription Elongation by the XPG-TFIIH Complex Is Implicated in Cockayne Syndrome. (26149386)
2015
32
COCKAYNE SYNDROME: ROLE OF GENETIC COUNSELLING. (26721046)
2015
33
A unified model for the molecular basis of Xeroderma pigmentosum-Cockayne Syndrome. (26460500)
2015
34
Nationwide survey of Cockayne syndrome in Japan: its incidence, clinical course and prognosis. (25851792)
2015
35
Cockayne Syndrome due to a maternally-inherited whole gene deletion of ERCC8 and a paternally-inherited ERCC8 exon 4 deletion. (26210811)
2015
36
Melatonin alterations and brain acetylcholine lesions in sleep disorders in Cockayne syndrome. (24503446)
2014
37
Cockayne syndrome protein A is a transcription factor of RNA polymerase I and stimulates ribosomal biogenesis and growth. (24781187)
2014
38
Cockayne syndrome: characteristic neuroimaging features. (25381627)
2014
39
The rem mutations in the ATP-binding groove of the Rad3/XPD helicase lead to Xeroderma pigmentosum-Cockayne syndrome-like phenotypes. (25500814)
2014
40
Dysregulation of gene expression as a cause of Cockayne syndrome neurological disease. (25249633)
2014
41
Identification of two missense mutations of ERCC6 in three Chinese sisters with Cockayne syndrome by whole exome sequencing. (25463447)
2014
42
WITHDRAWN: Two Novel Heterozygous Mutations of CSA Cause Cockayne Syndrome in a Chinese Family. (25824604)
2014
43
The sequence-specific transcription factor c-Jun targets Cockayne syndrome protein B to regulate transcription and chromatin structure. (24743307)
2014
44
Progressive demyelinating neuropathy correlates with clinical severity in Cockayne syndrome. (25453614)
2014
45
A Novel ERCC6 Splicing Variant Associated with a Mild Cockayne Syndrome Phenotype. (25376329)
2014
46
A high-fat diet and NAD(+) activate Sirt1 to rescue premature aging in cockayne syndrome. (25440059)
2014
47
A new mutation in the CSB gene in a Chinese patient with mild Cockayne syndrome. (25356239)
2014
48
Dental Management of a 14-Year-Old with Cockayne Syndrome under General Anesthesia. (25574402)
2014
49
Overexpression of p53 but not Rb in the cytoplasm of neurons and small vessels in an autopsy of a patient with Cockayne syndrome. (25495205)
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

About this section

Clinvar genetic disease variations for Cockayne Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1ERCC1NM_202001.2(ERCC1): c.693C> G (p.Phe231Leu)SNVPathogenicrs121913028GRCh37Chr 19, 45918128: 45918128
2ERCC1NM_202001.2(ERCC1): c.676A> T (p.Lys226Ter)SNVPathogenicrs886039224GRCh38Chr 19, 45414887: 45414887
3CD96CD96, EXONIC BREAKPOINTundetermined variantPathogenicChr na, -1: -1
4CD96NM_198196.2(CD96): c.839C> T (p.Thr280Met)SNVPathogenicrs119477056GRCh37Chr 3, 111304209: 111304209

Copy number variations for Cockayne Syndrome from CNVD:

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

Expression for genes affiliated with Cockayne Syndrome

About this section
Search GEO for disease gene expression data for Cockayne Syndrome.

Pathways for genes affiliated with Cockayne Syndrome

About this section

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

(show all 11)
idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.8DDB2, ERCC5, XPC
29.4ERCC2, ERCC3, GTF2H2, XPA, XPC
39.4ERCC1, ERCC2, ERCC3, ERCC4, ERCC6, XPA
4
Show member pathways
9.4ERCC2, ERCC3, ERCC6, GTF2H2, POLR2L
5
Show member pathways
9.3ERCC2, ERCC3, GTF2H2, POLR2L, TCEA1
6
Show member pathways
9.0DDB2, ERCC2, ERCC3, GTF2H2, POLR2L, TCEA1
78.8DDB1, DDB2, ERCC1, ERCC2, ERCC3, ERCC4
8
Show member pathways
8.6ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6
9
Show member pathways
8.0DDB1, DDB2, ERCC1, ERCC2, ERCC3, ERCC4
10
Show member pathways
7.2DDB1, DDB2, ERCC1, ERCC2, ERCC3, ERCC4
11
Show member pathways
7.2DDB1, DDB2, ERCC1, ERCC2, ERCC3, ERCC4

GO Terms for genes affiliated with Cockayne Syndrome

About this section

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

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1ERCC4-ERCC1 complexGO:007052211.0ERCC1, ERCC4
2DNA replication factor A complexGO:000566210.9ERCC5, XPA
3Cul4A-RING E3 ubiquitin ligase complexGO:003146410.8DDB1, ERCC8
4nucleotide-excision repair complexGO:000010910.8ERCC1, ERCC4, ERCC8
5nucleotide-excision repair factor 1 complexGO:000011010.7ERCC1, ERCC4, XPA
6Cul4B-RING E3 ubiquitin ligase complexGO:003146510.7DDB1, DDB2
7core TFIIH complexGO:000043910.6ERCC2, ERCC3, GTF2H2
8nuclear chromosome, telomeric regionGO:000078410.6DDB1, ERCC1, ERCC4
9holo TFIIH complexGO:000567510.5ERCC2, ERCC3, ERCC5, GTF2H2
10transcription factor TFIID complexGO:000566910.1ERCC1, ERCC4
11nucleoplasmGO:00056548.0DDB1, DDB2, ERCC1, ERCC2, ERCC3, ERCC4
12nucleusGO:00056347.8DDB1, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5

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

(show all 35)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of telomere maintenanceGO:003220510.9ERCC1, ERCC4
2hair cell differentiationGO:003531510.8ERCC2, ERCC3
3response to UV-BGO:001022410.8ERCC6, XPC
4nucleotide-excision repair involved in interstrand cross-link repairGO:190125510.8ERCC4, XPA
5response to auditory stimulusGO:001099610.8XPA, XPC
6pyrimidine dimer repairGO:000629010.8DDB2, ERCC6
7lymphocyte proliferationGO:004665110.8HELLS, HPRT1
8response to X-rayGO:001016510.7ERCC1, ERCC6, ERCC8
9histone H2A monoubiquitinationGO:003551810.6DDB1, DDB2
10cellular response to DNA damage stimulusGO:000697410.5ERCC1, ERCC6, ERCC8, XPC
11multicellular organism growthGO:003526410.5ERCC1, ERCC2, ERCC6, XPA
12regulation of DNA-templated transcription, elongationGO:003278410.4ERCC6, TCEA1, TCEA3
137-methylguanosine mRNA cappingGO:000637010.3ERCC2, ERCC3, GTF2H2, POLR2L
14regulation of mitotic cell cycle phase transitionGO:190199010.3DDB1, ERCC2, ERCC3, XPC
15termination of RNA polymerase I transcriptionGO:000636310.2ERCC2, ERCC3, GTF2H2, POLR2L
16nucleotide-excision repair, DNA damage recognitionGO:000071510.2DDB1, DDB2, XPA, XPC
17transcription initiation from RNA polymerase I promoterGO:000636110.1ERCC2, ERCC3, GTF2H2, POLR2L
18response to oxidative stressGO:000697910.1ERCC1, ERCC2, ERCC3, ERCC6, ERCC8, XPA
19transcription elongation from RNA polymerase I promoterGO:000636210.1ERCC2, ERCC3, ERCC6, GTF2H2, POLR2L
20transcription initiation from RNA polymerase II promoterGO:000636710.0ERCC2, ERCC3, GTF2H2, POLR2L
21transcription elongation from RNA polymerase II promoterGO:00063689.9ERCC2, ERCC3, GTF2H2, POLR2L, TCEA1
22UV protectionGO:00096509.8ERCC1, ERCC2, ERCC3, ERCC4, ERCC5
23transcription from RNA polymerase II promoterGO:00063669.7ERCC2, ERCC3, ERCC6, GTF2H2, POLR2L, TCEA1
24nucleotide-excision repair, DNA duplex unwindingGO:00007179.5DDB1, DDB2, ERCC2, ERCC3, GTF2H2, XPA
25UV-damage excision repairGO:00709149.5DDB1, DDB2, XPA, XPC
26nucleotide-excision repair, preincision complex assemblyGO:00062949.4DDB1, DDB2, ERCC2, ERCC3, ERCC5, GTF2H2
27DNA repairGO:00062819.3DDB1, DDB2, ERCC1, ERCC2, ERCC3, ERCC4
28nucleotide-excision repairGO:00062899.3DDB1, DDB2, ERCC1, ERCC2, ERCC3, ERCC4
29nucleotide-excision repair, DNA incisionGO:00336839.2DDB1, DDB2, ERCC1, ERCC2, ERCC3, ERCC4
30nucleotide-excision repair, DNA incision, 3-to lesionGO:00062959.2DDB1, DDB2, ERCC1, ERCC2, ERCC3, ERCC4
31nucleotide-excision repair, DNA incision, 5-to lesionGO:00062969.2DDB1, DDB2, ERCC1, ERCC2, ERCC3, ERCC4
32nucleotide-excision repair, preincision complex stabilizationGO:00062939.2DDB1, DDB2, ERCC1, ERCC2, ERCC3, ERCC4
33global genome nucleotide-excision repairGO:00709119.2DDB1, DDB2, ERCC1, ERCC2, ERCC3, ERCC4
34response to UVGO:00094119.1DDB2, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6
35transcription-coupled nucleotide-excision repairGO:00062838.0DDB1, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5

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

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1DNA helicase activityGO:000367811.0ERCC6, ERCC8
2bubble DNA bindingGO:000040510.9ERCC5, XPC
3endodeoxyribonuclease activityGO:000452010.9ERCC4, ERCC5
4single-stranded DNA endodeoxyribonuclease activityGO:000001410.4ERCC1, ERCC4
5RNA polymerase II carboxy-terminal domain kinase activityGO:000835310.4ERCC2, ERCC3, GTF2H2
6DNA-dependent ATPase activityGO:000809410.3ERCC2, ERCC3, ERCC6, ERCC8, GTF2H2
7structure-specific DNA bindingGO:004356610.3ERCC1, ERCC4
8protein C-terminus bindingGO:000802210.2ERCC1, ERCC2, ERCC3, ERCC4, ERCC6
9TFIID-class transcription factor bindingGO:000109410.1ERCC1, ERCC4
10single-stranded DNA bindingGO:000369710.1ERCC1, ERCC4, ERCC5, XPC
11protein N-terminus bindingGO:00474859.8ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, GTF2H2
12damaged DNA bindingGO:00036849.8DDB1, DDB2, ERCC1, ERCC3, ERCC4, XPA
13DNA bindingGO:00036779.2DDB1, DDB2, ERCC2, ERCC3, ERCC6, POLR2L
14protein bindingGO:00055157.2CD96, DDB1, DDB2, ERCC1, ERCC2, ERCC3

Sources for Cockayne Syndrome

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet