MCID: CCK003
MIFTS: 29

Cockayne Syndrome Type Ii

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

Aliases & Classifications for Cockayne Syndrome Type Ii

MalaCards integrated aliases for Cockayne Syndrome Type Ii:

Name: Cockayne Syndrome Type Ii 53 54 59
Cockayne Syndrome Type 2 53 59
Cockayne Syndrome Type B 53

Characteristics:

Orphanet epidemiological data:

59
cockayne syndrome type 2
Inheritance: Autosomal recessive;

Classifications:



External Ids:

Orphanet 59 ORPHA90322
ICD10 via Orphanet 34 Q87.8
UMLS via Orphanet 74 C0751038

Summaries for Cockayne Syndrome Type Ii

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 Ii, also known as cockayne syndrome type 2, is related to cerebro-oculo-facio-skeletal syndrome and cockayne syndrome b. 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 eye, spinal cord and brain, and related phenotypes are Synthetic lethal with MLN4924 (a NAE inhibitor) and Synthetic lethal with MLN4924 (a NAE inhibitor)

NINDS : 54 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 cerebro-oculo-facio-skeletal syndrome 31.2 ERCC1 ERCC6
2 cockayne syndrome b 30.5 ERCC6 ERCC8
3 cockayne syndrome 28.2 ERCC1 ERCC6 ERCC8
4 cockayne syndrome type iii 9.5 ERCC6 ERCC8
5 trichothiodystrophy 1, photosensitive 9.5 ERCC1 ERCC6
6 cockayne syndrome type i 9.4 ERCC6 ERCC8
7 cockayne syndrome a 9.4 ERCC6 ERCC8
8 uv-sensitive syndrome 8.9 ERCC6 ERCC8
9 xeroderma pigmentosum, variant type 8.8 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:

26
# 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:

46
# 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:

41
Eye, Spinal Cord, Brain, Bone, 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 72)
# 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 ERCC6, 1-BP DEL, 1597G deletion Pathogenic
6 ERCC6 NM_000124.3(ERCC6): c.1357C> T (p.Arg453Ter) single nucleotide variant Pathogenic rs121917902 GRCh37 Chromosome 10, 50732119: 50732119
7 ERCC6 NM_000124.3(ERCC6): c.1357C> T (p.Arg453Ter) single nucleotide variant Pathogenic rs121917902 GRCh38 Chromosome 10, 49524073: 49524073
8 ERCC6 NM_000124.3(ERCC6): c.972dupA (p.Glu325Argfs) duplication Pathogenic rs387906262 GRCh37 Chromosome 10, 50732504: 50732504
9 ERCC6 NM_000124.3(ERCC6): c.972dupA (p.Glu325Argfs) duplication Pathogenic rs387906262 GRCh38 Chromosome 10, 49524458: 49524458
10 ERCC6 ERCC6, 4-BP INS, 1053TGTC insertion Pathogenic
11 ERCC6 NM_000124.3(ERCC6): c.229C> T (p.Arg77Ter) single nucleotide variant Pathogenic rs121917903 GRCh37 Chromosome 10, 50740782: 50740782
12 ERCC6 NM_000124.3(ERCC6): c.229C> T (p.Arg77Ter) single nucleotide variant Pathogenic rs121917903 GRCh38 Chromosome 10, 49532736: 49532736
13 ERCC6 ERCC6, 1-BP INS, 1034T insertion Pathogenic
14 ERCC6 NM_000124.3(ERCC6): c.543+4delA deletion Pathogenic rs527236039 GRCh37 Chromosome 10, 50738762: 50738762
15 ERCC6 NM_000124.3(ERCC6): c.543+4delA deletion Pathogenic rs527236039 GRCh38 Chromosome 10, 49530716: 49530716
16 ERCC6 NM_000124.3(ERCC6): c.4007delA (p.Asn1336Ilefs) deletion Pathogenic rs786205175 GRCh37 Chromosome 10, 50668474: 50668474
17 ERCC6 NM_000124.3(ERCC6): c.4007delA (p.Asn1336Ilefs) deletion Pathogenic rs786205175 GRCh38 Chromosome 10, 49460428: 49460428
18 ERCC6 NM_000124.3(ERCC6): c.3952_3953delAG (p.Arg1318Glyfs) deletion Likely pathogenic rs765825423 GRCh37 Chromosome 10, 50669428: 50669429
19 ERCC6 NM_000124.3(ERCC6): c.3952_3953delAG (p.Arg1318Glyfs) deletion Likely pathogenic rs765825423 GRCh38 Chromosome 10, 49461382: 49461383
20 ERCC6 NM_000124.3(ERCC6): c.3904C> T (p.Gln1302Ter) single nucleotide variant Pathogenic rs786205174 GRCh38 Chromosome 10, 49461431: 49461431
21 ERCC6 NM_000124.3(ERCC6): c.3904C> T (p.Gln1302Ter) single nucleotide variant Pathogenic rs786205174 GRCh37 Chromosome 10, 50669477: 50669477
22 ERCC6 NM_000124.3(ERCC6): c.3612_3613insT (p.Lys1205Terfs) insertion Likely pathogenic rs786205173 GRCh38 Chromosome 10, 49470347: 49470348
23 ERCC6 NM_000124.3(ERCC6): c.3612_3613insT (p.Lys1205Terfs) insertion Likely pathogenic rs786205173 GRCh37 Chromosome 10, 50678393: 50678394
24 ERCC6 NM_000124.3(ERCC6) insertion Pathogenic rs786205172 GRCh37 Chromosome 10, 50678398: 50678399
25 ERCC6 NM_000124.3(ERCC6) insertion Pathogenic rs786205172 GRCh38 Chromosome 10, 49470352: 49470353
26 ERCC6 NM_000124.3(ERCC6): c.3536delA (p.Tyr1179Leufs) deletion Pathogenic rs786205171 GRCh38 Chromosome 10, 49470424: 49470424
27 ERCC6 NM_000124.3(ERCC6): c.3536delA (p.Tyr1179Leufs) deletion Pathogenic rs786205171 GRCh37 Chromosome 10, 50678470: 50678470
28 ERCC6 NM_000124.3(ERCC6): c.3412dupA (p.Thr1138Asnfs) duplication Pathogenic rs786205170 GRCh37 Chromosome 10, 50678594: 50678594
29 ERCC6 NM_000124.3(ERCC6): c.3412dupA (p.Thr1138Asnfs) duplication Pathogenic rs786205170 GRCh38 Chromosome 10, 49470548: 49470548
30 ERCC6 NM_000124.3(ERCC6): c.3122A> C (p.Gln1041Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs139007661 GRCh38 Chromosome 10, 49470838: 49470838
31 ERCC6 NM_000124.3(ERCC6): c.3122A> C (p.Gln1041Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs139007661 GRCh37 Chromosome 10, 50678884: 50678884
32 ERCC6 NM_000124.3(ERCC6): c.2830-2A> G single nucleotide variant Pathogenic rs373227647 GRCh37 Chromosome 10, 50680518: 50680518
33 ERCC6 NM_000124.3(ERCC6): c.2830-2A> G single nucleotide variant Pathogenic rs373227647 GRCh38 Chromosome 10, 49472472: 49472472
34 ERCC6 NM_000124.3(ERCC6): c.2599-26A> G single nucleotide variant Pathogenic rs4253196 GRCh38 Chromosome 10, 49473613: 49473613
35 ERCC6 NM_000124.3(ERCC6): c.2599-26A> G single nucleotide variant Pathogenic rs4253196 GRCh37 Chromosome 10, 50681659: 50681659
36 ERCC6 NM_000124.3(ERCC6): c.2167C> T (p.Gln723Ter) single nucleotide variant Pathogenic rs151242354 GRCh37 Chromosome 10, 50690735: 50690735
37 ERCC6 NM_000124.3(ERCC6): c.2167C> T (p.Gln723Ter) single nucleotide variant Pathogenic rs151242354 GRCh38 Chromosome 10, 49482689: 49482689
38 ERCC6 NM_000124.3(ERCC6): c.2096dupC (p.Leu700Valfs) duplication Likely pathogenic rs774791374 GRCh38 Chromosome 10, 49482760: 49482760
39 ERCC6 NM_000124.3(ERCC6): c.2096dupC (p.Leu700Valfs) duplication Likely pathogenic rs774791374 GRCh37 Chromosome 10, 50690806: 50690806
40 ERCC6 NM_000124.3(ERCC6): c.2008C> T (p.Arg670Trp) single nucleotide variant Pathogenic rs202080674 GRCh37 Chromosome 10, 50690894: 50690894
41 ERCC6 NM_000124.3(ERCC6): c.2008C> T (p.Arg670Trp) single nucleotide variant Pathogenic rs202080674 GRCh38 Chromosome 10, 49482848: 49482848
42 ERCC6 NM_000124.3(ERCC6): c.1999delA (p.Thr667Profs) deletion Pathogenic rs786205169 GRCh37 Chromosome 10, 50690903: 50690903
43 ERCC6 NM_000124.3(ERCC6): c.1999delA (p.Thr667Profs) deletion Pathogenic rs786205169 GRCh38 Chromosome 10, 49482857: 49482857
44 ERCC6 NM_000124.3(ERCC6): c.1996C> T (p.Arg666Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs61760163 GRCh38 Chromosome 10, 49482860: 49482860
45 ERCC6 NM_000124.3(ERCC6): c.1996C> T (p.Arg666Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs61760163 GRCh37 Chromosome 10, 50690906: 50690906
46 ERCC6 NM_000124.3(ERCC6): c.1954C> T (p.Arg652Ter) single nucleotide variant Likely pathogenic rs767247987 GRCh37 Chromosome 10, 50691430: 50691430
47 ERCC6 NM_000124.3(ERCC6): c.1954C> T (p.Arg652Ter) single nucleotide variant Likely pathogenic rs767247987 GRCh38 Chromosome 10, 49483384: 49483384
48 ERCC6 NM_000124.3(ERCC6): c.1850dupG (p.Cys617Trpfs) duplication Pathogenic rs786205167 GRCh38 Chromosome 10, 49483488: 49483488
49 ERCC6 NM_000124.3(ERCC6): c.1850dupG (p.Cys617Trpfs) duplication Pathogenic rs786205167 GRCh37 Chromosome 10, 50691534: 50691534
50 ERCC6 NM_000124.3(ERCC6): c.1659G> T (p.Lys553Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs116373975 GRCh37 Chromosome 10, 50708610: 50708610

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 9.43 ERCC1 ERCC6
3 DNA repair GO:0006281 9.43 ERCC1 ERCC6 ERCC8
4 response to UV GO:0009411 9.4 ERCC6 ERCC8
5 nucleotide-excision repair GO:0006289 9.37 ERCC1 ERCC8
6 response to oxidative stress GO:0006979 9.33 ERCC1 ERCC6 ERCC8
7 transcription-coupled nucleotide-excision repair GO:0006283 9.13 ERCC1 ERCC6 ERCC8
8 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 C-terminus binding GO:0008022 9.26 ERCC1 ERCC6
2 protein-containing complex binding GO:0044877 9.16 ERCC6 ERCC8
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 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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