MCID: CCK004
MIFTS: 30

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 20 58
Cockayne Syndrome Type 3 20 58
Cockayne Syndrome, Type Iii 70
Cockayne Syndrome Type C 20

Classifications:

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


Summaries for Cockayne Syndrome Type Iii

GARD : 20 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 eye, skeletal muscle and brain, and related phenotypes are astrocytosis and basal ganglia calcification

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

Human phenotypes related to Cockayne Syndrome Type Iii:

58 31 (show top 50) (show all 75)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 astrocytosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002446
2 basal ganglia calcification 58 31 hallmark (90%) Very frequent (99-80%) HP:0002135
3 subcortical white matter calcifications 58 31 hallmark (90%) Very frequent (99-80%) HP:0007346
4 dense calcifications in the cerebellar dentate nucleus 58 31 hallmark (90%) Very frequent (99-80%) HP:0002461
5 hyperreflexia 58 31 frequent (33%) Frequent (79-30%) HP:0001347
6 abnormality of peripheral nerve conduction 58 31 frequent (33%) Frequent (79-30%) HP:0003134
7 intellectual disability, mild 58 31 frequent (33%) Frequent (79-30%) HP:0001256
8 skeletal muscle atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0003202
9 areflexia 58 31 frequent (33%) Frequent (79-30%) HP:0001284
10 cutaneous photosensitivity 58 31 frequent (33%) Frequent (79-30%) HP:0000992
11 unsteady gait 58 31 frequent (33%) Frequent (79-30%) HP:0002317
12 demyelinating peripheral neuropathy 58 31 frequent (33%) Frequent (79-30%) HP:0007108
13 intention tremor 58 31 frequent (33%) Frequent (79-30%) HP:0002080
14 difficulty walking 58 31 frequent (33%) Frequent (79-30%) HP:0002355
15 brain atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0012444
16 adult onset sensorineural hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0008615
17 neurogenic bladder 58 31 frequent (33%) Frequent (79-30%) HP:0000011
18 peripheral axonal neuropathy 58 31 frequent (33%) Frequent (79-30%) HP:0003477
19 premature coronary artery atherosclerosis 58 31 frequent (33%) Frequent (79-30%) HP:0005181
20 cerebral white matter atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0012762
21 vascular calcification 58 31 frequent (33%) Frequent (79-30%) HP:0004934
22 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
23 nystagmus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000639
24 kyphosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002808
25 cataract 58 31 occasional (7.5%) Occasional (29-5%) HP:0000518
26 hepatomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0002240
27 macrotia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000400
28 carious teeth 58 31 occasional (7.5%) Occasional (29-5%) HP:0000670
29 abnormal facial shape 58 31 occasional (7.5%) Occasional (29-5%) HP:0001999
30 gastroesophageal reflux 58 31 occasional (7.5%) Occasional (29-5%) HP:0002020
31 photophobia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000613
32 renal insufficiency 58 31 occasional (7.5%) Occasional (29-5%) HP:0000083
33 strabismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000486
34 elevated hepatic transaminase 58 31 occasional (7.5%) Occasional (29-5%) HP:0002910
35 neurodevelopmental delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0012758
36 premature graying of hair 58 31 occasional (7.5%) Occasional (29-5%) HP:0002216
37 conductive hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000405
38 hydronephrosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000126
39 deeply set eye 58 31 occasional (7.5%) Occasional (29-5%) HP:0000490
40 hydroureter 58 31 occasional (7.5%) Occasional (29-5%) HP:0000072
41 feeding difficulties 58 31 occasional (7.5%) Occasional (29-5%) HP:0011968
42 progressive neurologic deterioration 58 31 occasional (7.5%) Occasional (29-5%) HP:0002344
43 urinary retention 58 31 occasional (7.5%) Occasional (29-5%) HP:0000016
44 hypermetropia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000540
45 hypoplasia of dental enamel 58 31 occasional (7.5%) Occasional (29-5%) HP:0006297
46 dry hair 58 31 occasional (7.5%) Occasional (29-5%) HP:0011359
47 short chin 58 31 occasional (7.5%) Occasional (29-5%) HP:0000331
48 progressive microcephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000253
49 narrow nose 58 31 occasional (7.5%) Occasional (29-5%) HP:0000460
50 mild postnatal growth retardation 58 31 occasional (7.5%) Occasional (29-5%) HP:0001530

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
Eye, Skeletal Muscle, Brain

Publications for Cockayne Syndrome Type Iii

Articles related to Cockayne Syndrome Type Iii:

# 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:

# 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:

# 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:

# 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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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