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, 26GTR, 29ICD10, 30ICD10 via Orphanet, 38MeSH, 39MESH via Orphanet, 44NCIt, 47NIH Rare Diseases, 49Novoseek, 53Orphanet, 61SNOMED-CT, 67UMLS, 68UMLS via Orphanet, 70Wikipedia
See all MalaCards sources

Aliases & Descriptions for Cockayne Syndrome:

Name: Cockayne Syndrome 11 70 23 47 24 25 53 49 38 13 67
Cockayne's Syndrome 11 47 26
Dwarfism-Retinal Atrophy-Deafness Syndrome 47 25
Dwarfism with Retinal Atrohpy and Deafness 24
Deafness-Dwarfism-Retinal Atrophy 24
 
Neill-Dingwall Syndrome 11
Progeria-Like Syndrome 47
Progeroid Nanism 47
Cs 25

Characteristics:

Orphanet epidemiological data:

53
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
ICD1029 Q87.1
MeSH38 D003057
NCIt44 C9460
SNOMED-CT61 205832003, 21086008
Orphanet53 ORPHA191
MESH via Orphanet39 D003057
UMLS via Orphanet68 C0009207
ICD10 via Orphanet30 Q87.1

Summaries for Cockayne Syndrome

About this section
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.

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 liver/biliary system and vision/eye.

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.

Wikipedia:70 Cockayne syndrome (CS), also called Neill-Dingwall syndrome, is a rare and fatal autosomal recessive... more...

GeneReviews for NBK1342

Related Diseases for Cockayne Syndrome

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Diseases in the Cockayne Syndrome family:

Cockayne Syndrome, Type a Cockayne Syndrome, Type B
Cockayne Syndrome Type 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 for Cockayne Syndrome

About this section

Human phenotypes related to Cockayne Syndrome:

 63 53 (show all 71)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 microcephaly63 53 hallmark (90%) Very frequent (99-80%) HP:0000252
2 abnormality of the nose63 53 hallmark (90%) Very frequent (99-80%) HP:0000366
3 macrotia63 53 hallmark (90%) Very frequent (99-80%) HP:0000400
4 sensorineural hearing impairment63 53 hallmark (90%) Very frequent (99-80%) HP:0000407
5 retinopathy63 53 hallmark (90%) Very frequent (99-80%) HP:0000488
6 deeply set eye63 53 hallmark (90%) Very frequent (99-80%) HP:0000490
7 carious teeth63 53 hallmark (90%) Very frequent (99-80%) HP:0000670
8 cutaneous photosensitivity63 53 hallmark (90%) Very frequent (99-80%) HP:0000992
9 hypertonia63 hallmark (90%) HP:0001276
10 hyperreflexia63 53 hallmark (90%) Very frequent (99-80%) HP:0001347
11 incoordination63 hallmark (90%) HP:0002311
12 short stature63 53 hallmark (90%) Very frequent (99-80%) HP:0004322
13 prematurely aged appearance63 53 hallmark (90%) Very frequent (99-80%) HP:0007495
14 abnormal blistering of the skin63 53 hallmark (90%) Very frequent (99-80%) HP:0008066
15 peripheral neuropathy63 53 hallmark (90%) Very frequent (99-80%) HP:0009830
16 cognitive impairment63 hallmark (90%) HP:0100543
17 strabismus63 53 typical (50%) Frequent (79-30%) HP:0000486
18 chorioretinal abnormality63 53 typical (50%) Frequent (79-30%) HP:0000532
19 dental malocclusion63 typical (50%) HP:0000689
20 decreased nerve conduction velocity63 53 typical (50%) Frequent (79-30%) HP:0000762
21 hypertension63 53 typical (50%) Frequent (79-30%) HP:0000822
22 atypical scarring of skin63 53 typical (50%) Frequent (79-30%) HP:0000987
23 large hands63 53 typical (50%) Frequent (79-30%) HP:0001176
24 tremor63 53 typical (50%) Frequent (79-30%) HP:0001337
25 limitation of joint mobility63 typical (50%) HP:0001376
26 disproportionate tall stature63 typical (50%) HP:0001519
27 abnormality of the foot63 53 typical (50%) Frequent (79-30%) HP:0001760
28 cerebral cortical atrophy63 53 typical (50%) Frequent (79-30%) HP:0002120
29 fine hair63 53 typical (50%) Frequent (79-30%) HP:0002213
30 eeg abnormality63 53 typical (50%) Frequent (79-30%) HP:0002353
31 cerebral calcification63 53 typical (50%) Frequent (79-30%) HP:0002514
32 kyphosis63 53 typical (50%) Frequent (79-30%) HP:0002808
33 generalized hyperpigmentation63 53 typical (50%) Frequent (79-30%) HP:0007440
34 aplasia/hypoplasia of the skin63 53 typical (50%) Frequent (79-30%) HP:0008065
35 abnormal hair quantity63 typical (50%) HP:0011362
36 cryptorchidism63 53 occasional (7.5%) Occasional (29-5%) HP:0000028
37 nephrotic syndrome63 53 occasional (7.5%) Occasional (29-5%) HP:0000100
38 abnormality of the palate63 53 occasional (7.5%) Occasional (29-5%) HP:0000174
39 oral cleft63 53 occasional (7.5%) Occasional (29-5%) HP:0000202
40 cataract63 53 occasional (7.5%) Occasional (29-5%) HP:0000518
41 optic atrophy63 53 occasional (7.5%) Occasional (29-5%) HP:0000648
42 delayed eruption of teeth63 53 occasional (7.5%) Occasional (29-5%) HP:0000684
43 platyspondyly63 53 occasional (7.5%) Occasional (29-5%) HP:0000926
44 seizures63 53 occasional (7.5%) Occasional (29-5%) HP:0001250
45 hypertrophic cardiomyopathy63 53 occasional (7.5%) Occasional (29-5%) HP:0001639
46 abnormality of pelvic girdle bone morphology63 53 occasional (7.5%) Occasional (29-5%) HP:0002644
47 arthrogryposis multiplex congenita63 53 occasional (7.5%) Occasional (29-5%) HP:0002804
48 abnormality of retinal pigmentation63 53 occasional (7.5%) Occasional (29-5%) HP:0007703
49 aplasia/hypoplasia affecting the eye63 occasional (7.5%) HP:0008056
50 telangiectasia of the skin63 occasional (7.5%) HP:0100585
51 breast aplasia63 53 occasional (7.5%) Occasional (29-5%) HP:0100783
52 glomerulopathy63 53 occasional (7.5%) Occasional (29-5%) HP:0100820
53 abnormality of the kidney53 Frequent (79-30%)
54 hearing impairment53 Frequent (79-30%)
55 microphthalmia53 Occasional (29-5%)
56 prominent superficial veins53 Frequent (79-30%)
57 intellectual disability53 Very frequent (99-80%)
58 ataxia53 Very frequent (99-80%)
59 spasticity53 Very frequent (99-80%)
60 mental deterioration53 Very frequent (99-80%)
61 joint stiffness53 Frequent (79-30%)
62 failure to thrive in infancy53 Very frequent (99-80%)
63 abnormality of the hair53 Occasional (29-5%)
64 abnormality of the sense of smell53 Very frequent (99-80%)
65 sparse hair53 Frequent (79-30%)
66 erythema53 Frequent (79-30%)
67 open bite53 Frequent (79-30%)
68 feeding difficulties53 Very frequent (99-80%)
69 fatigue53 Occasional (29-5%)
70 abnormality of movement53 Frequent (79-30%)
71 teleangiectasia of the skin53 Occasional (29-5%)

UMLS symptoms related to Cockayne Syndrome:


hyperexplexia

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

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Genetic tests related to Cockayne Syndrome:

id Genetic test Affiliating Genes
1 Cockayne Syndrome26 24 ERCC8

Anatomical Context for Cockayne Syndrome

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MalaCards organs/tissues related to Cockayne Syndrome:

35
Skin, Brain, Eye, Bone, B cells, Breast, Kidney

Animal Models for Cockayne Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Cockayne Syndrome:

40
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

Publications for Cockayne Syndrome

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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
The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care. (26204423)
2015
3
Melatonin alterations and brain acetylcholine lesions in sleep disorders in Cockayne syndrome. (24503446)
2014
4
Cockayne syndrome protein A is a transcription factor of RNA polymerase I and stimulates ribosomal biogenesis and growth. (24781187)
2014
5
Cockayne syndrome: characteristic neuroimaging features. (25381627)
2014
6
The rem mutations in the ATP-binding groove of the Rad3/XPD helicase lead to Xeroderma pigmentosum-Cockayne syndrome-like phenotypes. (25500814)
2014
7
Dysregulation of gene expression as a cause of Cockayne syndrome neurological disease. (25249633)
2014
8
Cockayne syndrome b maintains neural precursor function. (23245699)
2013
9
Repair of oxidatively generated DNA damage in Cockayne syndrome. (23518175)
2013
10
The conserved Cockayne syndrome B-piggyBac fusion protein (CSB-PGBD3) affects DNA repair and induces both interferon-like and innate antiviral responses in CSB-null cells. (22483866)
2012
11
Reciprocally regulated chromatin association of Cockayne syndrome protein B and p53 protein. (21852235)
2011
12
Downregulation of Cockayne syndrome B protein reduces human 8-oxoguanine DNA glycosylase-1 expression and repair of UV radiation-induced 8-oxo-7,8-dihydro-2'-deoxyguanine. (21668583)
2011
13
Cockayne syndrome B protects against methamphetamine-enhanced oxidative DNA damage in murine fetal brain and postnatal neurodevelopmental deficits. (20673160)
2011
14
Neuroimaging in Cockayne syndrome. (20522568)
2010
15
Cockayne syndrome B protein (CSB): linking p53, HIF-1 and p300 to robustness, lifespan, cancer and cell fate decisions. (19221478)
2009
16
A novel DNA repair disorder with thrombocytopenia, nephrosis and features overlapping Cockayne syndrome. (19760648)
2009
17
An abundant evolutionarily conserved CSB-PiggyBac fusion protein expressed in Cockayne syndrome. (18369450)
2008
18
Activation of RNA polymerase I transcription by cockayne syndrome group B protein and histone methyltransferase G9a. (17707230)
2007
19
The current evidence for defective repair of oxidatively damaged DNA in Cockayne syndrome. (17603927)
2007
20
Xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome: a complex genotype-phenotype relationship. (17276014)
2007
21
Complementation of the oxidatively damaged DNA repair defect in Cockayne syndrome A and B cells by Escherichia coli formamidopyrimidine DNA glycosylase. (17512460)
2007
22
A common mutational pattern in Cockayne syndrome patients from xeroderma pigmentosum group G: implications for a second XPG function. (17179216)
2006
23
Host cell reactivation of plasmids containing oxidative DNA lesions is defective in Cockayne syndrome but normal in UV-sensitive syndrome fibroblasts. (16129663)
2006
24
Cockayne syndrome in 2 siblings. (15951889)
2005
25
Characterisation of novel mutations in Cockayne syndrome type A and xeroderma pigmentosum group C subjects. (15744458)
2005
26
Primary fibroblasts of Cockayne syndrome patients are defective in cellular repair of 8-hydroxyguanine and 8-hydroxyadenine resulting from oxidative stress. (12665480)
2003
27
The gene expression and deficiency phenotypes of Cockayne syndrome B protein in Caenorhabditis elegans. (12095617)
2002
28
Phenotypic consequences of mutations in the conserved motifs of the putative helicase domain of the human Cockayne syndrome group B gene. (11867210)
2002
29
UVB radiation-induced cancer predisposition in Cockayne syndrome group A (Csa) mutant mice. (12509261)
2002
30
Functional crosstalk between hOgg1 and the helicase domain of Cockayne syndrome group B protein. (12531019)
2002
31
Xeroderma pigmentosum group G with severe neurological involvement and features of Cockayne syndrome in infancy. (11228268)
2001
32
Manitoba aboriginal kindred with original cerebro-oculo-facio- skeletal syndrome has a mutation in the Cockayne syndrome group B (CSB) gene. (10739753)
2000
33
Enhancement of XPG mRNA transcription by human interferon-beta in Cockayne syndrome cells with complementation group B. (9864391)
1999
34
Biochemical and biological characterization of wild-type and ATPase-deficient Cockayne syndrome B repair protein. (9565609)
1998
35
Reduced RNA polymerase II transcription in extracts of cockayne syndrome and xeroderma pigmentosum/Cockayne syndrome cells. (9278484)
1997
36
Cockayne syndrome: review of 25 cases. (8972530)
1996
37
RAD26, the functional S. cerevisiae homolog of the Cockayne syndrome B gene ERCC6. (7957102)
1994
38
Ocular findings in Cockayne syndrome. (1443019)
1992
39
Xeroderma pigmentosum and Cockayne syndrome: overlapping clinical and biochemical phenotypes. (1372469)
1992
40
Insusceptibility of Cockayne syndrome-derived lymphocytes to plasminogen activator-like protease induction by ultraviolet rays and its abolition by interferon. (1705660)
1991
41
Ultraviolet light-induced chromosomal aberrations in cultured cells from Cockayne syndrome and complementation group C xeroderma pigmentosum patients: lack of correlation with cancer susceptibility. (3348214)
1988
42
Cockayne syndrome with delayed recovery of RNA synthesis after ultraviolet irradiation but normal ultraviolet survival. (2432457)
1987
43
Ultraviolet hypersensitivity of Cockayne syndrome lymphoblastoid lines--the effects of exogenous beta-nicotinamide adenine dinucleotide. (3562572)
1986
44
Peripheral neuropathy in Cockayne syndrome. (3019920)
1986
45
Establishment of Cockayne syndrome fibroblast cell line belonging to complementation group B by SV40 transformation. (2989592)
1985
46
Cockayne syndrome. (7174933)
1982
47
Cockayne syndrome: an atypical case. (7192807)
1980
48
Cockayne syndrome: report of two siblings and review of literature in Japan. (553450)
1979
49
Cockayne syndrome: unusual neuropathological findings and review of the literature. (400082)
1979
50
Xeroderma pigmentosum and Cockayne syndrome. (662506)
1978

Variations for Cockayne Syndrome

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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

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Search GEO for disease gene expression data for Cockayne Syndrome.

Pathways for genes affiliated with Cockayne Syndrome

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

(show all 11)
idSuper 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

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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
2transcription factor TFIID complexGO:000566910.9ERCC1, ERCC4
3DNA replication factor A complexGO:000566210.8ERCC5, XPA
4nucleotide-excision repair complexGO:000010910.8ERCC1, ERCC4, ERCC8
5nucleotide-excision repair factor 1 complexGO:000011010.7ERCC1, ERCC4, XPA
6core TFIIH complexGO:000043910.6ERCC2, ERCC3, GTF2H2
7Cul4A-RING E3 ubiquitin ligase complexGO:003146410.6DDB1, ERCC8
8Cul4B-RING E3 ubiquitin ligase complexGO:003146510.5DDB1, DDB2
9nuclear chromosome, telomeric regionGO:000078410.3DDB1, ERCC1, ERCC4
10holo TFIIH complexGO:000567510.3ERCC2, ERCC3, ERCC5, GTF2H2
11nucleusGO:00056347.3DDB1, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5
12nucleoplasmGO:00056546.9DDB1, DDB2, ERCC1, ERCC2, ERCC3, ERCC4

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

(show all 35)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of telomere maintenanceGO:003220510.8ERCC1, ERCC4
2lymphocyte proliferationGO:004665110.7HELLS, HPRT1
3response to UV-BGO:001022410.7ERCC6, XPC
4nucleotide-excision repair involved in interstrand cross-link repairGO:190125510.7ERCC4, XPA
5response to X-rayGO:001016510.6ERCC1, ERCC6, ERCC8
6response to auditory stimulusGO:001099610.6XPA, XPC
7hair cell differentiationGO:003531510.6ERCC2, ERCC3
8pyrimidine dimer repairGO:000629010.4DDB2, ERCC6
9regulation of DNA-templated transcription, elongationGO:003278410.3ERCC6, TCEA1, TCEA3
10histone H2A monoubiquitinationGO:003551810.2DDB1, DDB2
11UV protectionGO:000965010.2ERCC1, ERCC2, ERCC3, ERCC4, ERCC5
12transcription initiation from RNA polymerase I promoterGO:000636110.1ERCC2, ERCC3, GTF2H2, POLR2L
13termination of RNA polymerase I transcriptionGO:000636310.1ERCC2, ERCC3, GTF2H2, POLR2L
147-methylguanosine mRNA cappingGO:000637010.1ERCC2, ERCC3, GTF2H2, POLR2L
15transcription initiation from RNA polymerase II promoterGO:000636710.0ERCC2, ERCC3, GTF2H2, POLR2L
16regulation of mitotic cell cycle phase transitionGO:190199010.0DDB1, ERCC2, ERCC3, XPC
17multicellular organism growthGO:003526410.0ERCC1, ERCC2, ERCC6, XPA
18cellular response to DNA damage stimulusGO:00069749.9ERCC1, ERCC6, ERCC8, XPC
19transcription elongation from RNA polymerase I promoterGO:00063629.9ERCC2, ERCC3, ERCC6, GTF2H2, POLR2L
20UV-damage excision repairGO:00709149.8DDB1, DDB2, XPA, XPC
21nucleotide-excision repair, DNA damage recognitionGO:00007159.8DDB1, DDB2, XPA, XPC
22transcription elongation from RNA polymerase II promoterGO:00063689.8ERCC2, ERCC3, GTF2H2, POLR2L, TCEA1
23response to oxidative stressGO:00069799.7ERCC1, ERCC2, ERCC3, ERCC6, ERCC8, XPA
24nucleotide-excision repair, DNA duplex unwindingGO:00007179.1DDB1, DDB2, ERCC2, ERCC3, GTF2H2, XPA
25transcription from RNA polymerase II promoterGO:00063669.1ERCC2, ERCC3, ERCC6, GTF2H2, POLR2L, TCEA1
26nucleotide-excision repair, preincision complex assemblyGO:00062949.0DDB1, DDB2, ERCC2, ERCC3, ERCC5, GTF2H2
27nucleotide-excision repairGO:00062899.0DDB1, DDB2, ERCC1, ERCC2, ERCC3, ERCC4
28nucleotide-excision repair, DNA incision, 5-to lesionGO:00062968.9DDB1, DDB2, ERCC1, ERCC2, ERCC3, ERCC4
29nucleotide-excision repair, DNA incision, 3-to lesionGO:00062958.9DDB1, DDB2, ERCC1, ERCC2, ERCC3, ERCC4
30nucleotide-excision repair, DNA incisionGO:00336838.8DDB1, DDB2, ERCC1, ERCC2, ERCC3, ERCC4
31nucleotide-excision repair, preincision complex stabilizationGO:00062938.8DDB1, DDB2, ERCC1, ERCC2, ERCC3, ERCC4
32global genome nucleotide-excision repairGO:00709118.8DDB1, DDB2, ERCC1, ERCC2, ERCC3, ERCC4
33response to UVGO:00094118.7DDB2, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6
34DNA repairGO:00062818.6DDB1, DDB2, ERCC1, ERCC2, ERCC3, ERCC4
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
1structure-specific DNA bindingGO:004356610.9ERCC1, ERCC4
2TFIID-class transcription factor bindingGO:000109410.9ERCC1, ERCC4
3bubble DNA bindingGO:000040510.8ERCC5, XPC
4single-stranded DNA endodeoxyribonuclease activityGO:000001410.8ERCC1, ERCC4
5DNA helicase activityGO:000367810.7ERCC6, ERCC8
6endodeoxyribonuclease activityGO:000452010.6ERCC4, ERCC5
7RNA polymerase II carboxy-terminal domain kinase activityGO:000835310.5ERCC2, ERCC3, GTF2H2
8single-stranded DNA bindingGO:000369710.3ERCC1, ERCC4, ERCC5, XPC
9protein C-terminus bindingGO:000802210.0ERCC1, ERCC2, ERCC3, ERCC4, ERCC6
10DNA-dependent ATPase activityGO:000809410.0ERCC2, ERCC3, ERCC6, ERCC8, GTF2H2
11protein N-terminus bindingGO:00474859.9ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, GTF2H2
12damaged DNA bindingGO:00036849.5DDB1, DDB2, ERCC1, ERCC3, ERCC4, XPA
13DNA bindingGO:00036778.4DDB1, DDB2, ERCC2, ERCC3, ERCC6, POLR2L
14protein bindingGO:00055156.6CD96, DDB1, DDB2, ERCC1, ERCC2, ERCC3

Sources for Cockayne Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet