MCID: CCK002
MIFTS: 31

Cockayne Syndrome Type I

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 Type I

Summaries for Cockayne Syndrome Type I

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 Type I, also known as cockayne syndrome type a, is related to cockayne syndrome a and cockayne syndrome type ii. An important gene associated with Cockayne Syndrome Type I is ERCC8 (ERCC Excision Repair 8, CSA Ubiquitin Ligase Complex Subunit), and among its related pathways/superpathways are DNA Double-Strand Break Repair and Transcription-Coupled Nucleotide Excision Repair (TC-NER). Affiliated tissues include bone, skin and eye, and related phenotypes are Synthetic lethal with MLN4924 (a NAE inhibitor) and Synthetic lethal with MLN4924 (a NAE inhibitor)

Related Diseases for Cockayne Syndrome Type I

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



Diseases related to Cockayne Syndrome Type I

Symptoms & Phenotypes for Cockayne Syndrome Type I

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.4 ERCC4 ERCC6 ERCC8
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.4 ERCC4 ERCC6 ERCC8
3 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.13 ERCC4 ERCC6 ERCC8

Drugs & Therapeutics for Cockayne Syndrome Type I

Search Clinical Trials , NIH Clinical Center for Cockayne Syndrome Type I

Genetic Tests for Cockayne Syndrome Type I

Genetic tests related to Cockayne Syndrome Type I:

# Genetic test Affiliating Genes
1 Cockayne Syndrome Type a 29 ERCC8

Anatomical Context for Cockayne Syndrome Type I

MalaCards organs/tissues related to Cockayne Syndrome Type I:

41
Bone, Skin, Eye

Publications for Cockayne Syndrome Type I

Articles related to Cockayne Syndrome Type I:

# Title Authors Year
1
Cockayne Syndrome Type A Protein Protects Primary Human Keratinocytes from Senescence. ( 30009828 )
2018
2
Molecular spectrum of excision repair cross-complementation group 8 gene defects in Chinese patients with Cockayne syndrome type A. ( 29057985 )
2017
3
Prenatal diagnosis of Cockayne syndrome type A based on the identification of two novel mutations in the ERCC8 gene. ( 19309286 )
2009
4
Cockayne syndrome type A: novel mutations in eight typical patients. ( 16865293 )
2006
5
Characterisation of novel mutations in Cockayne syndrome type A and xeroderma pigmentosum group C subjects. ( 15744458 )
2005
6
CKN1 (MIM 216400): mutations in Cockayne syndrome type A and a new common polymorphism. ( 14661080 )
2004
7
MRI in Cockayne syndrome type I. ( 2779780 )
1989

Variations for Cockayne Syndrome Type I

ClinVar genetic disease variations for Cockayne Syndrome Type I:

6 (show top 50) (show all 85)
# Gene Variation Type Significance SNP ID Assembly Location
1 ERCC8 ERCC8, 279-BP DEL, 81-BP DEL deletion Pathogenic
2 ERCC8 NM_000082.3(ERCC8): c.966C> A (p.Tyr322Ter) single nucleotide variant Pathogenic rs121434323 GRCh37 Chromosome 5, 60186791: 60186791
3 ERCC8 NM_000082.3(ERCC8): c.966C> A (p.Tyr322Ter) single nucleotide variant Pathogenic rs121434323 GRCh38 Chromosome 5, 60890964: 60890964
4 ERCC8 NM_000082.3(ERCC8): c.37G> T (p.Glu13Ter) single nucleotide variant Pathogenic rs121434324 GRCh37 Chromosome 5, 60240799: 60240799
5 ERCC8 NM_000082.3(ERCC8): c.37G> T (p.Glu13Ter) single nucleotide variant Pathogenic rs121434324 GRCh38 Chromosome 5, 60944972: 60944972
6 ERCC8 NM_000082.3(ERCC8): c.479C> T (p.Ala160Val) single nucleotide variant Conflicting interpretations of pathogenicity rs121434325 GRCh37 Chromosome 5, 60200621: 60200621
7 ERCC8 NM_000082.3(ERCC8): c.479C> T (p.Ala160Val) single nucleotide variant Conflicting interpretations of pathogenicity rs121434325 GRCh38 Chromosome 5, 60904794: 60904794
8 ERCC8 NM_000082.3(ERCC8): c.613G> C (p.Ala205Pro) single nucleotide variant Uncertain significance rs121434326 GRCh37 Chromosome 5, 60198273: 60198273
9 ERCC8 NM_000082.3(ERCC8): c.613G> C (p.Ala205Pro) single nucleotide variant Uncertain significance rs121434326 GRCh38 Chromosome 5, 60902446: 60902446
10 ERCC8 NM_000082.3(ERCC8): c.478G> A (p.Ala160Thr) single nucleotide variant Uncertain significance rs281875222 GRCh37 Chromosome 5, 60200622: 60200622
11 ERCC8 NM_000082.3(ERCC8): c.478G> A (p.Ala160Thr) single nucleotide variant Uncertain significance rs281875222 GRCh38 Chromosome 5, 60904795: 60904795
12 ERCC8 NM_000082.3(ERCC8): c.141delC (p.Asn47Lysfs) deletion Pathogenic rs786205176 GRCh38 Chromosome 5, 60928896: 60928896
13 ERCC8 NM_000082.3(ERCC8): c.141delC (p.Asn47Lysfs) deletion Pathogenic rs786205176 GRCh37 Chromosome 5, 60224723: 60224723
14 ERCC8; NDUFAF2 NM_174889.4(NDUFAF2): c.18T> G (p.Asp6Glu) single nucleotide variant Uncertain significance rs886060726 GRCh37 Chromosome 5, 60241100: 60241100
15 ERCC8; NDUFAF2 NM_174889.4(NDUFAF2): c.18T> G (p.Asp6Glu) single nucleotide variant Uncertain significance rs886060726 GRCh38 Chromosome 5, 60945273: 60945273
16 ERCC8 NM_000082.3(ERCC8): c.300C> G (p.Tyr100Ter) single nucleotide variant Pathogenic/Likely pathogenic rs143367518 GRCh37 Chromosome 5, 60214191: 60214191
17 ERCC8 NM_000082.3(ERCC8): c.300C> G (p.Tyr100Ter) single nucleotide variant Pathogenic/Likely pathogenic rs143367518 GRCh38 Chromosome 5, 60918364: 60918364
18 ERCC8 NM_000082.3(ERCC8): c.173+1119G> C single nucleotide variant Pathogenic rs1043679457 GRCh37 Chromosome 5, 60223572: 60223572
19 ERCC8 NM_000082.3(ERCC8): c.173+1119G> C single nucleotide variant Pathogenic rs1043679457 GRCh38 Chromosome 5, 60927745: 60927745
20 ERCC8 NM_000082.3(ERCC8): c.647_651dupTGAGA (p.Arg218Terfs) duplication Pathogenic/Likely pathogenic rs1064797032 GRCh38 Chromosome 5, 60899694: 60899698
21 ERCC8 NM_000082.3(ERCC8): c.647_651dupTGAGA (p.Arg218Terfs) duplication Pathogenic/Likely pathogenic rs1064797032 GRCh37 Chromosome 5, 60195521: 60195525
22 ERCC8; NDUFAF2 NM_174889.4(NDUFAF2): c.114C> G (p.Tyr38Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs199754807 GRCh38 Chromosome 5, 60945369: 60945369
23 ERCC8; NDUFAF2 NM_174889.4(NDUFAF2): c.114C> G (p.Tyr38Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs199754807 GRCh37 Chromosome 5, 60241196: 60241196
24 ERCC8 NM_000082.3(ERCC8): c.173+1158A> G single nucleotide variant Benign rs4647068 GRCh37 Chromosome 5, 60223533: 60223533
25 ERCC8 NM_000082.3(ERCC8): c.173+1158A> G single nucleotide variant Benign rs4647068 GRCh38 Chromosome 5, 60927706: 60927706
26 ERCC8 NM_000082.3(ERCC8): c.299delAinsAA (p.Tyr100Terfs) indel Pathogenic GRCh38 Chromosome 5, 60918365: 60918365
27 ERCC8 NM_000082.3(ERCC8): c.299delAinsAA (p.Tyr100Terfs) indel Pathogenic GRCh37 Chromosome 5, 60214192: 60214192
28 ERCC8 NM_000082.3(ERCC8): c.1122+1G> A single nucleotide variant Likely pathogenic GRCh37 Chromosome 5, 60183266: 60183266
29 ERCC8 NM_000082.3(ERCC8): c.1122+1G> A single nucleotide variant Likely pathogenic GRCh38 Chromosome 5, 60887439: 60887439
30 ERCC8 NM_000082.3(ERCC8): c.843+1G> T single nucleotide variant Likely pathogenic GRCh37 Chromosome 5, 60194102: 60194102
31 ERCC8 NM_000082.3(ERCC8): c.843+1G> T single nucleotide variant Likely pathogenic GRCh38 Chromosome 5, 60898275: 60898275
32 ERCC8 NM_000082.3(ERCC8): c.719-2A> T single nucleotide variant Likely pathogenic GRCh37 Chromosome 5, 60194229: 60194229
33 ERCC8 NM_000082.3(ERCC8): c.719-2A> T single nucleotide variant Likely pathogenic GRCh38 Chromosome 5, 60898402: 60898402
34 ERCC8 NM_000082.3(ERCC8): c.679delG (p.Asp227Ilefs) deletion Likely pathogenic GRCh37 Chromosome 5, 60195492: 60195493
35 ERCC8 NM_000082.3(ERCC8): c.679delG (p.Asp227Ilefs) deletion Likely pathogenic GRCh38 Chromosome 5, 60899666: 60899666
36 ERCC8 NM_000082.3(ERCC8): c.618-1G> A single nucleotide variant Pathogenic rs201464610 GRCh37 Chromosome 5, 60195555: 60195555
37 ERCC8 NM_000082.3(ERCC8): c.618-1G> A single nucleotide variant Pathogenic rs201464610 GRCh38 Chromosome 5, 60899728: 60899728
38 ERCC8 NM_000082.3(ERCC8): c.600dup (p.Ile201Tyrfs) duplication Likely pathogenic GRCh37 Chromosome 5, 60198285: 60198285
39 ERCC8 NM_000082.3(ERCC8): c.600dup (p.Ile201Tyrfs) duplication Likely pathogenic GRCh38 Chromosome 5, 60902459: 60902459
40 ERCC8 NM_000082.3(ERCC8): c.562_564delGAA (p.Glu188del) deletion Uncertain significance GRCh37 Chromosome 5, 60198321: 60198324
41 ERCC8 NM_000082.3(ERCC8): c.562_564delGAA (p.Glu188del) deletion Uncertain significance GRCh38 Chromosome 5, 60902495: 60902497
42 ERCC8 NM_000082.3(ERCC8): c.313_314delGT (p.Val105Thrfs) deletion Pathogenic GRCh37 Chromosome 5, 60214176: 60214178
43 ERCC8 NM_000082.3(ERCC8): c.313_314delGT (p.Val105Thrfs) deletion Pathogenic GRCh38 Chromosome 5, 60918350: 60918351
44 ERCC8 NM_000082.3(ERCC8): c.-356G> A single nucleotide variant Uncertain significance GRCh37 Chromosome 5, 60241191: 60241191
45 ERCC8 NM_000082.3(ERCC8): c.-356G> A single nucleotide variant Uncertain significance GRCh38 Chromosome 5, 60945364: 60945364
46 ERCC8 NM_000082.3(ERCC8): c.1006delA (p.Thr336Leufs) deletion Uncertain significance GRCh37 Chromosome 5, 60186750: 60186751
47 ERCC8 NM_000082.3(ERCC8): c.1006delA (p.Thr336Leufs) deletion Uncertain significance GRCh38 Chromosome 5, 60890924: 60890924
48 ERCC8 NM_000082.3(ERCC8): c.399+1G> A single nucleotide variant Likely pathogenic rs774047625 GRCh37 Chromosome 5, 60214091: 60214091
49 ERCC8 NM_000082.3(ERCC8): c.399+1G> A single nucleotide variant Likely pathogenic rs774047625 GRCh38 Chromosome 5, 60918264: 60918264
50 ERCC8 NM_000082.3(ERCC8): c.77+2T> G single nucleotide variant Likely pathogenic GRCh37 Chromosome 5, 60240757: 60240757

Expression for Cockayne Syndrome Type I

Search GEO for disease gene expression data for Cockayne Syndrome Type I.

Pathways for Cockayne Syndrome Type I

GO Terms for Cockayne Syndrome Type I

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

# Name GO ID Score Top Affiliating Genes
1 nucleotide-excision repair complex GO:0000109 8.62 ERCC4 ERCC8

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

# Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 9.5 ERCC4 ERCC6 ERCC8
2 response to oxidative stress GO:0006979 9.43 ERCC6 ERCC8
3 DNA repair GO:0006281 9.43 ERCC4 ERCC6 ERCC8
4 DNA duplex unwinding GO:0032508 9.4 ERCC6 ERCC8
5 nucleotide-excision repair GO:0006289 9.37 ERCC4 ERCC8
6 response to X-ray GO:0010165 9.16 ERCC6 ERCC8
7 transcription-coupled nucleotide-excision repair GO:0006283 9.13 ERCC4 ERCC6 ERCC8
8 response to UV GO:0009411 8.8 ERCC4 ERCC6 ERCC8

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

# Name GO ID Score Top Affiliating Genes
1 protein-containing complex binding GO:0044877 9.32 ERCC6 ERCC8
2 protein C-terminus binding GO:0008022 9.26 ERCC4 ERCC6
3 protein N-terminus binding GO:0047485 9.16 ERCC4 ERCC6
4 DNA-dependent ATPase activity GO:0008094 8.96 ERCC6 ERCC8
5 DNA helicase activity GO:0003678 8.62 ERCC6 ERCC8

Sources for Cockayne Syndrome Type I

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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