MCID: CCK003
MIFTS: 29

Cockayne Syndrome Type Ii

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 Ii

Summaries for Cockayne Syndrome Type Ii

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 Ii, also known as cockayne syndrome type 2, is related to cockayne syndrome b and cockayne syndrome type i. An important gene associated with Cockayne Syndrome Type Ii is ERCC6 (ERCC Excision Repair 6, Chromatin Remodeling Factor), and among its related pathways/superpathways are DNA Double-Strand Break Repair and Transcription-Coupled Nucleotide Excision Repair (TC-NER). Affiliated tissues include bone, eye and brain, and related phenotypes are Synthetic lethal with MLN4924 (a NAE inhibitor) and Synthetic lethal with MLN4924 (a NAE inhibitor)

NINDS : 55 Cerebro-oculo-facio-skeletal syndrome (COFS) is a pediatric, genetic, degenerative disorder that involves the brain and the spinal cord. It is characterized by craniofacial and skeletal abnormalities, severely reduced muscle tone, and impairment of reflexes. Symptoms may include large, low-set ears, small eyes, microcephaly (abnormal smallness of the head), micrognathia (abnormal smallness of the jaws), clenched fists, wide-set nipples, vision impairments, involuntary eye movements, and impaired cognitive development, which can be moderate or severe. Respiratory infections are frequent. COFS is diagnosed at birth. Ultrasound technology can detect fetuses with COFS at an early stage of pregnancy, as the fetus moves very little, and some of the abnormalities result, in part, from lack of movement. A small number of individuals with COFS have a mutation in the "ERCC6" gene and are more appropriately diagnosed as having Cockayne Syndrome Type II. Other individuals with COFS may have defects in the xeroderma pigmentosumgenes "XPG" or "XPD." Still others who are diagnosed with COFS have no identifiable genetic defect and are presumably affected because of mutations in a distinct, as-yet-unknown gene. NOTE: This disorder is not the same as Cohen's syndrome (cerebral obesity ocular skeletal syndrome).

Related Diseases for Cockayne Syndrome Type Ii

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

# Related Disease Score Top Affiliating Genes
1 cockayne syndrome b 32.1 ERCC6 ERCC8
2 cockayne syndrome type i 31.6 ERCC6 ERCC8
3 cockayne syndrome type iii 31.6 ERCC6 ERCC8
4 cockayne syndrome a 31.5 ERCC6 ERCC8
5 cerebro-oculo-facio-skeletal syndrome 31.5 ERCC1 ERCC6
6 cockayne syndrome 29.3 ERCC1 ERCC6 ERCC8
7 uv-sensitive syndrome 9.6 ERCC6 ERCC8
8 trichothiodystrophy 1, photosensitive 9.6 ERCC1 ERCC6
9 xeroderma pigmentosum, variant type 9.4 ERCC1 ERCC6 ERCC8

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



Diseases related to Cockayne Syndrome Type Ii

Symptoms & Phenotypes for Cockayne Syndrome Type Ii

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

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.4 ERCC1 ERCC6 ERCC8
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.4 ERCC1 ERCC6 ERCC8
3 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.13 ERCC1 ERCC6 ERCC8

MGI Mouse Phenotypes related to Cockayne Syndrome Type Ii:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 9.13 ERCC1 ERCC6 ERCC8
2 neoplasm MP:0002006 8.8 ERCC1 ERCC6 ERCC8

Drugs & Therapeutics for Cockayne Syndrome Type Ii

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

Genetic Tests for Cockayne Syndrome Type Ii

Anatomical Context for Cockayne Syndrome Type Ii

MalaCards organs/tissues related to Cockayne Syndrome Type Ii:

42
Bone, Eye, Brain, Spinal Cord, Skin

Publications for Cockayne Syndrome Type Ii

Articles related to Cockayne Syndrome Type Ii:

# Title Authors Year
1
Cockayne syndrome type II in a Druze isolate in Northern Israel in association with an insertion mutation in ERCC6. ( 18446857 )
2008
2
A clinical and radiological study of two brothers affected by Cockayne syndrome type II. ( 3444914 )
1987

Variations for Cockayne Syndrome Type Ii

ClinVar genetic disease variations for Cockayne Syndrome Type Ii:

6 (show top 50) (show all 226)
# Gene Variation Type Significance SNP ID Assembly Location
1 ERCC6 NM_000124.3(ERCC6): c.1550G> A (p.Trp517Ter) single nucleotide variant Pathogenic rs121917900 GRCh37 Chromosome 10, 50708719: 50708719
2 ERCC6 NM_000124.3(ERCC6): c.1550G> A (p.Trp517Ter) single nucleotide variant Pathogenic rs121917900 GRCh38 Chromosome 10, 49500673: 49500673
3 ERCC6 NM_000124.3(ERCC6): c.2203C> T (p.Arg735Ter) single nucleotide variant Pathogenic rs121917901 GRCh37 Chromosome 10, 50686483: 50686483
4 ERCC6 NM_000124.3(ERCC6): c.2203C> T (p.Arg735Ter) single nucleotide variant Pathogenic rs121917901 GRCh38 Chromosome 10, 49478437: 49478437
5 ERCC6 NM_000124.3(ERCC6): c.1357C> T (p.Arg453Ter) single nucleotide variant Pathogenic rs121917902 GRCh37 Chromosome 10, 50732119: 50732119
6 ERCC6 NM_000124.3(ERCC6): c.1357C> T (p.Arg453Ter) single nucleotide variant Pathogenic rs121917902 GRCh38 Chromosome 10, 49524073: 49524073
7 ERCC6 NM_000124.3(ERCC6): c.972dup (p.Glu325Argfs) duplication Pathogenic rs387906262 GRCh37 Chromosome 10, 50732504: 50732504
8 ERCC6 NM_000124.3(ERCC6): c.972dup (p.Glu325Argfs) duplication Pathogenic rs387906262 GRCh38 Chromosome 10, 49524458: 49524458
9 ERCC6 ERCC6, 4-BP INS, 1053TGTC insertion Pathogenic
10 ERCC6 NM_000124.3(ERCC6): c.3284C> G (p.Pro1095Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs4253208 GRCh37 Chromosome 10, 50678722: 50678722
11 ERCC6 NM_000124.3(ERCC6): c.3284C> G (p.Pro1095Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs4253208 GRCh38 Chromosome 10, 49470676: 49470676
12 ERCC6 NM_000124.3(ERCC6): c.229C> T (p.Arg77Ter) single nucleotide variant Pathogenic rs121917903 GRCh37 Chromosome 10, 50740782: 50740782
13 ERCC6 NM_000124.3(ERCC6): c.229C> T (p.Arg77Ter) single nucleotide variant Pathogenic rs121917903 GRCh38 Chromosome 10, 49532736: 49532736
14 ERCC6 ERCC6, 1-BP INS, 1034T insertion Pathogenic
15 ERCC6 NM_000124.3(ERCC6): c.2047C> T (p.Arg683Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs121917904 GRCh37 Chromosome 10, 50690855: 50690855
16 ERCC6 NM_000124.3(ERCC6): c.2047C> T (p.Arg683Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs121917904 GRCh38 Chromosome 10, 49482809: 49482809
17 ERCC6 NM_000124.3(ERCC6): c.3862C> T (p.Arg1288Ter) single nucleotide variant Pathogenic rs185142838 GRCh37 Chromosome 10, 50669519: 50669519
18 ERCC6 NM_000124.3(ERCC6): c.3862C> T (p.Arg1288Ter) single nucleotide variant Pathogenic rs185142838 GRCh38 Chromosome 10, 49461473: 49461473
19 ERCC6 NM_000124.3(ERCC6): c.1281C> T (p.Phe427=) single nucleotide variant Likely benign rs267602508 GRCh37 Chromosome 10, 50732195: 50732195
20 ERCC6 NM_000124.3(ERCC6): c.1281C> T (p.Phe427=) single nucleotide variant Likely benign rs267602508 GRCh38 Chromosome 10, 49524149: 49524149
21 ERCC6 NM_000124.3(ERCC6): c.1281C> T (p.Phe427=) single nucleotide variant Likely benign rs267602508 NCBI36 Chromosome 10, 50402201: 50402201
22 ERCC6 NM_000124.3(ERCC6): c.543+4delA deletion Pathogenic rs527236039 GRCh37 Chromosome 10, 50738762: 50738762
23 ERCC6 NM_000124.3(ERCC6): c.543+4delA deletion Pathogenic rs527236039 GRCh38 Chromosome 10, 49530716: 49530716
24 ERCC6 NM_000124.3(ERCC6): c.1684_1705del deletion Pathogenic
25 ERCC6 NM_000124.3(ERCC6): c.4186A> G (p.Arg1396Gly) single nucleotide variant Uncertain significance rs745352643 GRCh38 Chromosome 10, 49459111: 49459111
26 ERCC6 NM_000124.3(ERCC6): c.4186A> G (p.Arg1396Gly) single nucleotide variant Uncertain significance rs745352643 GRCh37 Chromosome 10, 50667157: 50667157
27 ERCC6 NM_000124.3(ERCC6): c.4007delA (p.Asn1336Ilefs) deletion Pathogenic rs786205175 GRCh37 Chromosome 10, 50668474: 50668474
28 ERCC6 NM_000124.3(ERCC6): c.4007delA (p.Asn1336Ilefs) deletion Pathogenic rs786205175 GRCh38 Chromosome 10, 49460428: 49460428
29 ERCC6 NM_000124.3(ERCC6): c.3952_3953delAG (p.Arg1318Glyfs) deletion Likely pathogenic rs765825423 GRCh37 Chromosome 10, 50669428: 50669429
30 ERCC6 NM_000124.3(ERCC6): c.3952_3953delAG (p.Arg1318Glyfs) deletion Likely pathogenic rs765825423 GRCh38 Chromosome 10, 49461382: 49461383
31 ERCC6 NM_000124.3(ERCC6): c.3904C> T (p.Gln1302Ter) single nucleotide variant Pathogenic rs786205174 GRCh38 Chromosome 10, 49461431: 49461431
32 ERCC6 NM_000124.3(ERCC6): c.3904C> T (p.Gln1302Ter) single nucleotide variant Pathogenic rs786205174 GRCh37 Chromosome 10, 50669477: 50669477
33 ERCC6 NM_000124.3(ERCC6): c.3612_3613insT (p.Lys1205Terfs) insertion Likely pathogenic rs786205173 GRCh38 Chromosome 10, 49470347: 49470348
34 ERCC6 NM_000124.3(ERCC6): c.3612_3613insT (p.Lys1205Terfs) insertion Likely pathogenic rs786205173 GRCh37 Chromosome 10, 50678393: 50678394
35 ERCC6 NM_000124.3(ERCC6) insertion Pathogenic rs786205172 GRCh37 Chromosome 10, 50678398: 50678399
36 ERCC6 NM_000124.3(ERCC6) insertion Pathogenic rs786205172 GRCh38 Chromosome 10, 49470352: 49470353
37 ERCC6 NM_000124.3(ERCC6): c.3536delA (p.Tyr1179Leufs) deletion Pathogenic/Likely pathogenic rs786205171 GRCh38 Chromosome 10, 49470424: 49470424
38 ERCC6 NM_000124.3(ERCC6): c.3536delA (p.Tyr1179Leufs) deletion Pathogenic/Likely pathogenic rs786205171 GRCh37 Chromosome 10, 50678470: 50678470
39 ERCC6 NM_000124.3(ERCC6): c.3412dupA (p.Thr1138Asnfs) duplication Pathogenic/Likely pathogenic rs786205170 GRCh37 Chromosome 10, 50678594: 50678594
40 ERCC6 NM_000124.3(ERCC6): c.3412dupA (p.Thr1138Asnfs) duplication Pathogenic/Likely pathogenic rs786205170 GRCh38 Chromosome 10, 49470548: 49470548
41 ERCC6 NM_000124.3(ERCC6): c.3122A> C (p.Gln1041Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs139007661 GRCh38 Chromosome 10, 49470838: 49470838
42 ERCC6 NM_000124.3(ERCC6): c.3122A> C (p.Gln1041Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs139007661 GRCh37 Chromosome 10, 50678884: 50678884
43 ERCC6 NM_000124.3(ERCC6): c.2830-2A> G single nucleotide variant Pathogenic rs373227647 GRCh37 Chromosome 10, 50680518: 50680518
44 ERCC6 NM_000124.3(ERCC6): c.2830-2A> G single nucleotide variant Pathogenic rs373227647 GRCh38 Chromosome 10, 49472472: 49472472
45 ERCC6 NM_000124.3(ERCC6): c.2599-26A> G single nucleotide variant Conflicting interpretations of pathogenicity rs4253196 GRCh38 Chromosome 10, 49473613: 49473613
46 ERCC6 NM_000124.3(ERCC6): c.2599-26A> G single nucleotide variant Conflicting interpretations of pathogenicity rs4253196 GRCh37 Chromosome 10, 50681659: 50681659
47 ERCC6 NM_000124.3(ERCC6): c.2167C> T (p.Gln723Ter) single nucleotide variant Pathogenic/Likely pathogenic rs151242354 GRCh37 Chromosome 10, 50690735: 50690735
48 ERCC6 NM_000124.3(ERCC6): c.2167C> T (p.Gln723Ter) single nucleotide variant Pathogenic/Likely pathogenic rs151242354 GRCh38 Chromosome 10, 49482689: 49482689
49 ERCC6 NM_000124.3(ERCC6): c.2096dupC (p.Leu700Valfs) duplication Likely pathogenic rs774791374 GRCh38 Chromosome 10, 49482760: 49482760
50 ERCC6 NM_000124.3(ERCC6): c.2096dupC (p.Leu700Valfs) duplication Likely pathogenic rs774791374 GRCh37 Chromosome 10, 50690806: 50690806

Expression for Cockayne Syndrome Type Ii

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

Pathways for Cockayne Syndrome Type Ii

GO Terms for Cockayne Syndrome Type Ii

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

# Name GO ID Score Top Affiliating Genes
1 nucleotide-excision repair complex GO:0000109 8.62 ERCC1 ERCC8

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

# Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 9.5 ERCC1 ERCC6 ERCC8
2 multicellular organism growth GO:0035264 9.46 ERCC1 ERCC6
3 DNA duplex unwinding GO:0032508 9.43 ERCC6 ERCC8
4 DNA repair GO:0006281 9.43 ERCC1 ERCC6 ERCC8
5 response to UV GO:0009411 9.4 ERCC6 ERCC8
6 nucleotide-excision repair GO:0006289 9.37 ERCC1 ERCC8
7 response to oxidative stress GO:0006979 9.33 ERCC1 ERCC6 ERCC8
8 transcription-coupled nucleotide-excision repair GO:0006283 9.13 ERCC1 ERCC6 ERCC8
9 response to X-ray GO:0010165 8.8 ERCC1 ERCC6 ERCC8

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

# Name GO ID Score Top Affiliating Genes
1 protein-containing complex binding GO:0044877 9.26 ERCC6 ERCC8
2 protein C-terminus binding GO:0008022 9.16 ERCC1 ERCC6
3 DNA-dependent ATPase activity GO:0008094 8.96 ERCC6 ERCC8
4 DNA helicase activity GO:0003678 8.62 ERCC6 ERCC8

Sources for Cockayne Syndrome Type Ii

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
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37 IUPHAR
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45 MeSH
46 MESH via Orphanet
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50 NCI
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52 NDF-RT
55 NINDS
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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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