MCID: CCK002
MIFTS: 30

Cockayne Syndrome Type I

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

Aliases & Classifications for Cockayne Syndrome Type I

MalaCards integrated aliases for Cockayne Syndrome Type I:

Name: Cockayne Syndrome Type I 53 59
Cockayne Syndrome Type a 53 29 6
Cockayne Syndrome Classic Form 53
Cockayne Syndrome Classical 53
Cockayne Syndrome Type 1 59

Classifications:



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Orphanet 59 ORPHA90321
UMLS via Orphanet 74 C0751039
ICD10 via Orphanet 34 Q87.8

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. 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

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 Type I via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 cockayne syndrome a 30.7 ERCC4 ERCC6 ERCC8
2 cockayne syndrome 27.9 ERCC4 ERCC6 ERCC8
3 uv-sensitive syndrome 2 10.9
4 type i 9.8
5 cockayne syndrome type iii 9.4 ERCC6 ERCC8
6 cockayne syndrome type ii 9.3 ERCC6 ERCC8
7 cockayne syndrome b 9.2 ERCC6 ERCC8
8 cerebro-oculo-facio-skeletal syndrome 9.2 ERCC4 ERCC6
9 uv-sensitive syndrome 8.9 ERCC6 ERCC8
10 xeroderma pigmentosum, variant type 8.7 ERCC4 ERCC6 ERCC8

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
Molecular spectrum of excision repair cross-complementation group 8 gene defects in Chinese patients with Cockayne syndrome type A. ( 29057985 )
2017
2
Prenatal diagnosis of Cockayne syndrome type A based on the identification of two novel mutations in the ERCC8 gene. ( 19309286 )
2009
3
Cockayne syndrome type A: novel mutations in eight typical patients. ( 16865293 )
2006
4
Characterisation of novel mutations in Cockayne syndrome type A and xeroderma pigmentosum group C subjects. ( 15744458 )
2005
5
CKN1 (MIM 216400): mutations in Cockayne syndrome type A and a new common polymorphism. ( 14661080 )
2004
6
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 all 19)
# Gene Variation Type Significance SNP ID Assembly Location
1 ERCC8 NM_000082.3(ERCC8): c.37G> T (p.Glu13Ter) single nucleotide variant Pathogenic rs121434324 GRCh38 Chromosome 5, 60944972: 60944972
2 ERCC8 ERCC8, 279-BP DEL, 81-BP DEL deletion Pathogenic
3 ERCC8 NM_000082.3(ERCC8): c.966C> A (p.Tyr322Ter) single nucleotide variant Pathogenic rs121434323 GRCh37 Chromosome 5, 60186791: 60186791
4 ERCC8 NM_000082.3(ERCC8): c.966C> A (p.Tyr322Ter) single nucleotide variant Pathogenic rs121434323 GRCh38 Chromosome 5, 60890964: 60890964
5 ERCC8 NM_000082.3(ERCC8): c.37G> T (p.Glu13Ter) single nucleotide variant Pathogenic rs121434324 GRCh37 Chromosome 5, 60240799: 60240799
6 ERCC8 NM_000082.3(ERCC8): c.479C> T (p.Ala160Val) single nucleotide variant Likely pathogenic rs121434325 GRCh37 Chromosome 5, 60200621: 60200621
7 ERCC8 NM_000082.3(ERCC8): c.479C> T (p.Ala160Val) single nucleotide variant Likely pathogenic rs121434325 GRCh38 Chromosome 5, 60904794: 60904794
8 ERCC8 NM_000082.3(ERCC8): c.613G> C (p.Ala205Pro) single nucleotide variant Pathogenic rs121434326 GRCh37 Chromosome 5, 60198273: 60198273
9 ERCC8 NM_000082.3(ERCC8): c.613G> C (p.Ala205Pro) single nucleotide variant Pathogenic rs121434326 GRCh38 Chromosome 5, 60902446: 60902446
10 ERCC8 NM_000082.3(ERCC8): c.141delC (p.Asn47Lysfs) deletion Pathogenic rs786205176 GRCh37 Chromosome 5, 60224723: 60224723
11 ERCC8 NM_000082.3(ERCC8): c.141delC (p.Asn47Lysfs) deletion Pathogenic rs786205176 GRCh38 Chromosome 5, 60928896: 60928896
12 ERCC8 NM_000082.3(ERCC8): c.300C> G (p.Tyr100Ter) single nucleotide variant Pathogenic/Likely pathogenic rs143367518 GRCh37 Chromosome 5, 60214191: 60214191
13 ERCC8 NM_000082.3(ERCC8): c.300C> G (p.Tyr100Ter) single nucleotide variant Pathogenic/Likely pathogenic rs143367518 GRCh38 Chromosome 5, 60918364: 60918364
14 ERCC8 NM_000082.3(ERCC8): c.173+1119G> C single nucleotide variant Pathogenic rs1043679457 GRCh37 Chromosome 5, 60223572: 60223572
15 ERCC8 NM_000082.3(ERCC8): c.173+1119G> C single nucleotide variant Pathogenic rs1043679457 GRCh38 Chromosome 5, 60927745: 60927745
16 ERCC8 NM_000082.3(ERCC8): c.173+1158A> G single nucleotide variant Benign rs4647068 GRCh37 Chromosome 5, 60223533: 60223533
17 ERCC8 NM_000082.3(ERCC8): c.173+1158A> G single nucleotide variant Benign rs4647068 GRCh38 Chromosome 5, 60927706: 60927706
18 ERCC8 NM_000082.3(ERCC8): c.299delAinsAA (p.Tyr100Terfs) indel Pathogenic GRCh37 Chromosome 5, 60214192: 60214192
19 ERCC8 NM_000082.3(ERCC8): c.299delAinsAA (p.Tyr100Terfs) indel Pathogenic GRCh38 Chromosome 5, 60918365: 60918365

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 DNA repair GO:0006281 9.43 ERCC4 ERCC6 ERCC8
3 response to oxidative stress GO:0006979 9.4 ERCC6 ERCC8
4 nucleotide-excision repair GO:0006289 9.37 ERCC4 ERCC8
5 response to X-ray GO:0010165 9.16 ERCC6 ERCC8
6 transcription-coupled nucleotide-excision repair GO:0006283 9.13 ERCC4 ERCC6 ERCC8
7 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 C-terminus binding GO:0008022 9.32 ERCC4 ERCC6
2 protein-containing complex binding GO:0044877 9.26 ERCC6 ERCC8
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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