MCID: CCK003
MIFTS: 34

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 : 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 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 eye, brain and bone, 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

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, Brain, Bone, Spinal Cord, Skin

Publications for Cockayne Syndrome Type Ii

Articles related to Cockayne Syndrome Type Ii:

# Title Authors PMID Year
1
Cockayne syndrome type II in a Druze isolate in Northern Israel in association with an insertion mutation in ERCC6. 38
18446857 2008
2
Nephrotic syndrome, hypertension, and adrenal failure in atypical Cockayne syndrome. 38
8897565 1996
3
A clinical and radiological study of two brothers affected by Cockayne syndrome type II. 38
3444914 1987

Variations for Cockayne Syndrome Type Ii

ClinVar genetic disease variations for Cockayne Syndrome Type Ii:

6 (show top 50) (show all 114)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 ERCC6 NM_000124.4(ERCC6): c.2923C> T (p.Arg975Ter) single nucleotide variant Pathogenic rs772801089 10:50680423-50680423 10:49472377-49472377
2 ERCC6 NM_000124.4(ERCC6): c.2058G> A (p.Trp686Ter) single nucleotide variant Pathogenic rs751292948 10:50690844-50690844 10:49482798-49482798
3 ERCC6 NM_000124.4(ERCC6): c.2551T> A (p.Trp851Arg) single nucleotide variant Pathogenic rs368728467 10:50682120-50682120 10:49474074-49474074
4 ERCC6 NM_000124.4(ERCC6): c.2560C> T (p.Gln854Ter) single nucleotide variant Pathogenic rs1554787509 10:50682111-50682111 10:49474065-49474065
5 ERCC6 NM_000124.4(ERCC6): c.2569C> T (p.Arg857Ter) single nucleotide variant Pathogenic rs751448793 10:50682102-50682102 10:49474056-49474056
6 ERCC6 NM_000124.4(ERCC6): c.1550G> A (p.Trp517Ter) single nucleotide variant Pathogenic rs121917900 10:50708719-50708719 10:49500673-49500673
7 ERCC6 NM_000124.4(ERCC6): c.2203C> T (p.Arg735Ter) single nucleotide variant Pathogenic rs121917901 10:50686483-50686483 10:49478437-49478437
8 ERCC6 NM_000124.4(ERCC6): c.1357C> T (p.Arg453Ter) single nucleotide variant Pathogenic rs121917902 10:50732119-50732119 10:49524073-49524073
9 ERCC6 NM_000124.4(ERCC6): c.972dup (p.Glu325fs) duplication Pathogenic rs387906262 10:50732504-50732504 10:49524458-49524458
10 ERCC6 ERCC6, 4-BP INS, 1053TGTC insertion Pathogenic
11 ERCC6 NM_000124.4(ERCC6): c.229C> T (p.Arg77Ter) single nucleotide variant Pathogenic rs121917903 10:50740782-50740782 10:49532736-49532736
12 ERCC6 ERCC6, 1-BP INS, 1034T insertion Pathogenic
13 ERCC6 NM_000124.4(ERCC6): c.3862C> T (p.Arg1288Ter) single nucleotide variant Pathogenic rs185142838 10:50669519-50669519 10:49461473-49461473
14 ERCC6 NM_000124.4(ERCC6): c.543+4del deletion Pathogenic rs527236039 10:50738762-50738762 10:49530716-49530716
15 ERCC6 NM_000124.4(ERCC6): c.4007del (p.Asn1336fs) deletion Pathogenic rs786205175 10:50668474-50668474 10:49460428-49460428
16 ERCC6 NM_000124.4(ERCC6): c.3904C> T (p.Gln1302Ter) single nucleotide variant Pathogenic rs786205174 10:50669477-50669477 10:49461431-49461431
17 ERCC6 NM_000124.4(ERCC6) insertion Pathogenic rs786205172 10:50678398-50678399 10:49470352-49470353
18 ERCC6 NM_000124.4(ERCC6): c.2830-2A> G single nucleotide variant Pathogenic rs373227647 10:50680518-50680518 10:49472472-49472472
19 ERCC6 NM_000124.4(ERCC6): c.2008C> T (p.Arg670Trp) single nucleotide variant Pathogenic rs202080674 10:50690894-50690894 10:49482848-49482848
20 ERCC6 NM_000124.4(ERCC6): c.1999del (p.Thr667fs) deletion Pathogenic rs786205169 10:50690903-50690903 10:49482857-49482857
21 ERCC6 NM_000124.4(ERCC6): c.1850dup (p.Cys617fs) duplication Pathogenic rs786205167 10:50691534-50691534 10:49483488-49483488
22 ERCC6 NM_000124.4(ERCC6): c.1280dup (p.Ser429fs) duplication Pathogenic rs786205166 10:50732196-50732196 10:49524150-49524150
23 ERCC6 NM_000124.3(ERCC6): c.1684_1705del deletion Pathogenic
24 ERCC6 NM_000124.4(ERCC6): c.850_851insT (p.Glu284fs) insertion Pathogenic rs797045562 10:50732625-50732626 10:49524579-49524580
25 ERCC6 NM_000124.4(ERCC6): c.3942G> A (p.Trp1314Ter) single nucleotide variant Pathogenic 10:50669439-50669439 10:49461393-49461393
26 ERCC6 NM_000124.4(ERCC6): c.466C> T (p.Gln156Ter) single nucleotide variant Pathogenic/Likely pathogenic rs751838040 10:50738843-50738843 10:49530797-49530797
27 ERCC6 NM_000124.4(ERCC6): c.1526+1G> T single nucleotide variant Pathogenic/Likely pathogenic rs371739894 10:50713929-50713929 10:49505883-49505883
28 ERCC6 NM_000124.4(ERCC6): c.1518del (p.Lys506fs) deletion Pathogenic/Likely pathogenic rs786205168 10:50713938-50713938 10:49505892-49505892
29 ERCC6 NM_000124.4(ERCC6): c.2167C> T (p.Gln723Ter) single nucleotide variant Pathogenic/Likely pathogenic rs151242354 10:50690735-50690735 10:49482689-49482689
30 ERCC6 NM_000124.4(ERCC6): c.3536del (p.Tyr1179fs) deletion Pathogenic/Likely pathogenic rs786205171 10:50678470-50678470 10:49470424-49470424
31 ERCC6 NM_000124.4(ERCC6): c.3412dup (p.Thr1138fs) duplication Pathogenic/Likely pathogenic rs786205170 10:50678594-50678594 10:49470548-49470548
32 ERCC6 NM_000124.4(ERCC6): c.2047C> T (p.Arg683Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121917904 10:50690855-50690855 10:49482809-49482809
33 ERCC6 NM_000124.4(ERCC6): c.1009A> T (p.Lys337Ter) single nucleotide variant Pathogenic/Likely pathogenic rs1198241866 10:50732467-50732467 10:49524421-49524421
34 ERCC6 NM_000124.4(ERCC6): c.1834C> T (p.Arg612Ter) single nucleotide variant Pathogenic/Likely pathogenic rs376526037 10:50691550-50691550 10:49483504-49483504
35 ERCC6 NM_000124.4(ERCC6): c.2839C> T (p.Arg947Ter) single nucleotide variant Pathogenic/Likely pathogenic rs906755254 10:50680507-50680507 10:49472461-49472461
36 ERCC6 NM_000124.4(ERCC6): c.4062+2T> A single nucleotide variant Likely pathogenic rs1554873950 10:50668417-50668417 10:49460371-49460371
37 ERCC6 NM_000124.4(ERCC6): c.3871dup (p.Gln1291fs) duplication Likely pathogenic rs1386369933 10:50669509-50669509 10:49461464-49461464
38 ERCC6 NM_000124.4(ERCC6): c.3778+1G> C single nucleotide variant Likely pathogenic rs1554875114 10:50678227-50678227 10:49470181-49470181
39 ERCC6 NM_000124.4(ERCC6): c.2829+1G> A single nucleotide variant Likely pathogenic rs1554875522 10:50680954-50680954 10:49472908-49472908
40 ERCC6 NM_000124.4(ERCC6): c.2383-1G> A single nucleotide variant Likely pathogenic rs1554787554 10:50682289-50682289 10:49474243-49474243
41 ERCC6 NM_000124.4(ERCC6): c.422+1G> A single nucleotide variant Likely pathogenic rs1198472093 10:50740588-50740588 10:49532542-49532542
42 ERCC6 NM_000124.4(ERCC6): c.257_258GC[1] (p.Ala87fs) short repeat Likely pathogenic rs1554794620 10:50740750-50740752 10:49532705-49532706
43 ERCC6 NM_000124.4(ERCC6): c.4063-1G> C single nucleotide variant Likely pathogenic rs766980240 10:50667281-50667281 10:49459235-49459235
44 ERCC6 NM_000124.4(ERCC6): c.3627dup (p.Lys1210Ter) duplication Likely pathogenic rs1554875154 10:50678378-50678378 10:49470333-49470333
45 ERCC6 NM_000124.4(ERCC6): c.1527-2A> G single nucleotide variant Likely pathogenic rs768608345 10:50708744-50708744 10:49500698-49500698
46 ERCC6 NM_000124.4(ERCC6): c.2287-2A> G single nucleotide variant Likely pathogenic rs754978734 10:50684358-50684358 10:49476312-49476312
47 ERCC6 NM_000124.4(ERCC6): c.2286+1G> A single nucleotide variant Likely pathogenic rs1362935450 10:50686399-50686399 10:49478353-49478353
48 ERCC6 NM_000124.4(ERCC6): c.1398-2A> G single nucleotide variant Likely pathogenic rs1317145066 10:50714060-50714060 10:49506014-49506014
49 ERCC6 NM_000124.4(ERCC6): c.3589_3590GA[3] (p.Lys1198fs) short repeat Likely pathogenic rs1287286877 10:50678413-50678413 10:49470368-49470369
50 ERCC6 NM_000124.4(ERCC6): c.526C> T (p.Arg176Ter) single nucleotide variant Likely pathogenic rs771781694 10:50738783-50738783 10:49530737-49530737

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 ERCC8 ERCC1

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 ERCC8 ERCC6 ERCC1
2 multicellular organism growth GO:0035264 9.46 ERCC6 ERCC1
3 DNA duplex unwinding GO:0032508 9.43 ERCC8 ERCC6
4 DNA repair GO:0006281 9.43 ERCC8 ERCC6 ERCC1
5 response to UV GO:0009411 9.4 ERCC8 ERCC6
6 nucleotide-excision repair GO:0006289 9.37 ERCC8 ERCC1
7 response to oxidative stress GO:0006979 9.33 ERCC8 ERCC6 ERCC1
8 transcription-coupled nucleotide-excision repair GO:0006283 9.13 ERCC8 ERCC6 ERCC1
9 response to X-ray GO:0010165 8.8 ERCC8 ERCC6 ERCC1

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 ERCC8 ERCC6
2 protein C-terminus binding GO:0008022 9.16 ERCC6 ERCC1
3 DNA-dependent ATPase activity GO:0008094 8.96 ERCC8 ERCC6
4 DNA helicase activity GO:0003678 8.62 ERCC8 ERCC6

Sources for Cockayne Syndrome Type Ii

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....