MCID: CCK004
MIFTS: 25

Cockayne Syndrome Type Iii

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 Iii

Summaries for Cockayne Syndrome Type Iii

NIH Rare Diseases : 54 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 Iii, also known as cockayne syndrome type 3, is related to cockayne syndrome type i and cockayne syndrome type ii. An important gene associated with Cockayne Syndrome Type Iii is ERCC8 (ERCC Excision Repair 8, CSA Ubiquitin Ligase Complex Subunit), and among its related pathways/superpathways are Transcription-Coupled Nucleotide Excision Repair (TC-NER) and Chks in Checkpoint Regulation. Affiliated tissues include bone, skin and eye, and related phenotypes are Increased viability with MLN4924 (a NAE inhibitor) and hearing/vestibular/ear

Related Diseases for Cockayne Syndrome Type Iii

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 Iii via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 cockayne syndrome type i 31.4 ERCC6 ERCC8
2 cockayne syndrome type ii 31.4 ERCC6 ERCC8
3 cockayne syndrome 29.7 ERCC6 ERCC8
4 cockayne syndrome a 9.7 ERCC6 ERCC8
5 cockayne syndrome b 9.7 ERCC6 ERCC8
6 uv-sensitive syndrome 9.6 ERCC6 ERCC8
7 xeroderma pigmentosum, variant type 9.5 ERCC6 ERCC8

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



Diseases related to Cockayne Syndrome Type Iii

Symptoms & Phenotypes for Cockayne Syndrome Type Iii

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

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 8.62 ERCC6 ERCC8

MGI Mouse Phenotypes related to Cockayne Syndrome Type Iii:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 8.62 ERCC6 ERCC8

Drugs & Therapeutics for Cockayne Syndrome Type Iii

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

Genetic Tests for Cockayne Syndrome Type Iii

Anatomical Context for Cockayne Syndrome Type Iii

MalaCards organs/tissues related to Cockayne Syndrome Type Iii:

42
Bone, Skin, Eye

Publications for Cockayne Syndrome Type Iii

Articles related to Cockayne Syndrome Type Iii:

# Title Authors Year
1
Cockayne syndrome type III with high intelligence. ( 8835332 )
1995

Variations for Cockayne Syndrome Type Iii

Expression for Cockayne Syndrome Type Iii

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

Pathways for Cockayne Syndrome Type Iii

GO Terms for Cockayne Syndrome Type Iii

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

# Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 9.4 ERCC6 ERCC8
2 DNA repair GO:0006281 9.37 ERCC6 ERCC8
3 response to oxidative stress GO:0006979 9.32 ERCC6 ERCC8
4 transcription-coupled nucleotide-excision repair GO:0006283 9.26 ERCC6 ERCC8
5 DNA duplex unwinding GO:0032508 9.16 ERCC6 ERCC8
6 response to UV GO:0009411 8.96 ERCC6 ERCC8
7 response to X-ray GO:0010165 8.62 ERCC6 ERCC8

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

# Name GO ID Score Top Affiliating Genes
1 protein-containing complex binding GO:0044877 9.16 ERCC6 ERCC8
2 DNA-dependent ATPase activity GO:0008094 8.96 ERCC6 ERCC8
3 DNA helicase activity GO:0003678 8.62 ERCC6 ERCC8

Sources for Cockayne Syndrome Type Iii

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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