MCID: CCK004
MIFTS: 21

Cockayne Syndrome Type Iii

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

Aliases & Classifications for Cockayne Syndrome Type Iii

MalaCards integrated aliases for Cockayne Syndrome Type Iii:

Name: Cockayne Syndrome Type Iii 52 58
Cockayne Syndrome Type 3 52 58
Cockayne Syndrome, Type Iii 71
Cockayne Syndrome Type C 52

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Rare otorhinolaryngological diseases
Rare skin diseases
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 Q87.8
UMLS via Orphanet 72 C0751037
Orphanet 58 ORPHA90324
UMLS 71 C0751037

Summaries for Cockayne Syndrome Type Iii

NIH Rare Diseases : 52 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 b and cockayne syndrome. An important gene associated with Cockayne Syndrome Type Iii is ERCC6 (ERCC Excision Repair 6, Chromatin Remodeling Factor), and among its related pathways/superpathways are Transcription-Coupled Nucleotide Excision Repair (TC-NER) and Chks in Checkpoint Regulation. Affiliated tissues include bone, eye and skin.

Related Diseases for Cockayne Syndrome Type Iii

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

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:

40
Bone, Eye, Skin

Publications for Cockayne Syndrome Type Iii

Articles related to Cockayne Syndrome Type Iii:

(showing 1, show less)
# Title Authors PMID Year
1
Cockayne syndrome type III with high intelligence. 61
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

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

(showing 3, show less)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.89 ERCC8 ERCC6
2
Show member pathways
11.56 ERCC8 ERCC6
3
Show member pathways
10.69 ERCC8 ERCC6

GO Terms for Cockayne Syndrome Type Iii

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

(showing 10, show less)
# Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 9.48 ERCC8 ERCC6
2 DNA repair GO:0006281 9.46 ERCC8 ERCC6
3 response to oxidative stress GO:0006979 9.43 ERCC8 ERCC6
4 DNA duplex unwinding GO:0032508 9.4 ERCC8 ERCC6
5 transcription-coupled nucleotide-excision repair GO:0006283 9.37 ERCC8 ERCC6
6 response to UV GO:0009411 9.32 ERCC8 ERCC6
7 positive regulation of DNA repair GO:0045739 9.26 ERCC8 ERCC6
8 response to X-ray GO:0010165 9.16 ERCC8 ERCC6
9 single strand break repair GO:0000012 8.96 ERCC8 ERCC6
10 double-strand break repair via classical nonhomologous end joining GO:0097680 8.62 ERCC8 ERCC6

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

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

Sources for Cockayne Syndrome Type Iii

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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