MCID: CRB091
MIFTS: 37

Cerebro-Oculo-Facio-Skeletal Syndrome malady

Categories: Rare diseases, Bone diseases

Aliases & Classifications for Cerebro-Oculo-Facio-Skeletal Syndrome

Aliases & Descriptions for Cerebro-Oculo-Facio-Skeletal Syndrome:

Name: Cerebro-Oculo-Facio-Skeletal Syndrome 50 51 29
Pena-Shokeir Syndrome Type 2 50
Pena Shokeir Syndrome Type 2 69
Cofs Syndrome 50

Classifications:



Summaries for Cerebro-Oculo-Facio-Skeletal Syndrome

NIH Rare Diseases : 50 cerebro-oculo-facio-skeletal (cofs) syndrome is a degenerative disorder that primarily involves the brain, eyes, and spinal cord. affected individuals have mild to severe intellectual disability, severely reduced muscle tone (hypotonia), impaired reflexes, vision impairment, and involuntary eye movements. children with cofs syndrome have distinctive facial features, including low-set ears, small eyes, small head size (microcephaly), and a small jaw (micrognathia). they may also have abnormalities of the skull, limbs, heart, and kidneys. individuals with cofs syndrome are often diagnosed at birth. in many cases, the cause of the disorder is unknown. some children with this condition have mutations in the ercc1, ercc2, ercc5, or ercc6 gene. when an individual has the features of cofs syndrome and a mutation in the ercc6 gene, they are said to have cockayne syndrome type ii. cofs syndrome is inherited in an autosomal recessive manner. most children with this condition do not live past age 5 years of age. treatment involves supportive care and is based on an individual's symptoms. last updated: 10/14/2016

MalaCards based summary : Cerebro-Oculo-Facio-Skeletal Syndrome, also known as pena-shokeir syndrome type 2, is related to cerebrooculofacioskeletal syndrome 2 and cerebrooculofacioskeletal syndrome 1. An important gene associated with Cerebro-Oculo-Facio-Skeletal Syndrome 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 spinal cord, and related phenotypes are Increased viability with MLN4924 (a NAE inhibitor) and growth/size/body region

NINDS : 51 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.

Related Diseases for Cerebro-Oculo-Facio-Skeletal Syndrome

Diseases related to Cerebro-Oculo-Facio-Skeletal Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 27)
id Related Disease Score Top Affiliating Genes
1 cerebrooculofacioskeletal syndrome 2 32.6 ERCC1 ERCC2 ERCC3
2 cerebrooculofacioskeletal syndrome 1 12.1
3 cerebrooculofacioskeletal syndrome 3 12.0
4 cerebrooculofacioskeletal syndrome 4 12.0
5 cockayne syndrome type ii 11.4
6 ichthyosis 10.4
7 ectropion 10.2
8 cockayne syndrome 10.2
9 collagenopathy type 2 alpha 1 10.0 ERCC4 ERCC6
10 collagenous gastritis 10.0 ERCC1 ERCC6
11 myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay 10.0 ERCC1 ERCC4
12 bone marrow failure syndrome 2 10.0 ERCC1 ERCC4
13 macular degeneration, age-related 5 9.9 ERCC2 ERCC5 ERCC6
14 trichothiodystrophy 2, photosensitive 9.7 ERCC1 ERCC2 ERCC3
15 myoclonic-atonic epilepsy 9.7 ERCC2 ERCC3
16 lymphedema-distichiasis syndrome 9.7 ERCC1 ERCC2 ERCC4
17 autoimmune disease 3 9.7 ERCC1 ERCC2 ERCC3
18 qazi markouizos syndrome 9.7 ERCC1 ERCC2 ERCC3
19 fanconi anemia, complementation group q 9.6 ERCC1 ERCC2 ERCC4 ERCC5
20 specific language impairment 9.6 ERCC2 ERCC3 ERCC5 ERCC6
21 confetti-like macular atrophy 9.5 ERCC2 ERCC3 ERCC4 ERCC5
22 t-cell large granular lymphocyte leukemia 9.5 ERCC1 ERCC2 ERCC3 ERCC5
23 bile acid malabsorption, primary 9.5 ERCC1 ERCC3 ERCC4 ERCC5
24 charcot-marie-tooth disease type 2a 9.2 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6
25 3-methylglutaconic aciduria, type iii 9.2 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6
26 renal artery obstruction 9.2 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6
27 retinitis pigmentosa 7 and digenic 9.2 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6

Graphical network of the top 20 diseases related to Cerebro-Oculo-Facio-Skeletal Syndrome:



Diseases related to Cerebro-Oculo-Facio-Skeletal Syndrome

Symptoms & Phenotypes for Cerebro-Oculo-Facio-Skeletal Syndrome

GenomeRNAi Phenotypes related to Cerebro-Oculo-Facio-Skeletal Syndrome according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.02 ERCC1 ERCC2 ERCC3 ERCC4 ERCC6

MGI Mouse Phenotypes related to Cerebro-Oculo-Facio-Skeletal Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.8 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6
2 cellular MP:0005384 9.77 ERCC1 ERCC2 ERCC3 ERCC4 ERCC6
3 integument MP:0010771 9.65 ERCC1 ERCC2 ERCC3 ERCC5 ERCC6
4 liver/biliary system MP:0005370 9.46 ERCC1 ERCC4 ERCC5 ERCC6
5 mortality/aging MP:0010768 9.43 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6
6 neoplasm MP:0002006 8.92 ERCC6 ERCC1 ERCC2 ERCC3

Drugs & Therapeutics for Cerebro-Oculo-Facio-Skeletal Syndrome

Interventional clinical trials:


id Name Status NCT ID Phase
1 Acute Effects of Coffee Beverage on Postprandial Inflammation and Oxidative Stress - A Pilot Study Active, not recruiting NCT02174640

Search NIH Clinical Center for Cerebro-Oculo-Facio-Skeletal Syndrome

Genetic Tests for Cerebro-Oculo-Facio-Skeletal Syndrome

Genetic tests related to Cerebro-Oculo-Facio-Skeletal Syndrome:

id Genetic test Affiliating Genes
1 Cerebro-Oculo-Facio-Skeletal Syndrome 29

Anatomical Context for Cerebro-Oculo-Facio-Skeletal Syndrome

MalaCards organs/tissues related to Cerebro-Oculo-Facio-Skeletal Syndrome:

39
Eye, Brain, Spinal Cord, Heart, Kidney

Publications for Cerebro-Oculo-Facio-Skeletal Syndrome

Articles related to Cerebro-Oculo-Facio-Skeletal Syndrome:

(show all 20)
id Title Authors Year
1
The Cerebro-oculo-facio-skeletal Syndrome Point Mutation F231L in the ERCC1 DNA Repair Protein Causes Dissociation of the ERCC1-XPF Complex. ( 26085086 )
2015
2
Cerebro-oculo-facio-skeletal syndrome. ( 22980622 )
2012
3
Cerebro-oculo-facio-skeletal syndrome. ( 20687508 )
2010
4
CafAc au lait macules and cerebro-oculo-facio-skeletal syndrome: a novel association. ( 19250421 )
2009
5
Cerebro-oculo-facio-skeletal syndrome: three additional cases with CSB mutations, new diagnostic criteria and an approach to investigation. ( 18628313 )
2008
6
First reported patient with human ERCC1 deficiency has cerebro-oculo- facio-skeletal syndrome with a mild defect in nucleotide excision repair and severe developmental failure. ( 17273966 )
2007
7
Cerebro-oculo-facio-skeletal syndrome complicated by congenital ichthyosis. ( 16317307 )
2006
8
Muscle involvement in the cerebro-oculo-facio-skeletal syndrome. ( 14984906 )
2004
9
Cerebro-oculo-facio-skeletal syndrome in a neonate. ( 12196689 )
2002
10
Cerebro-oculo-facio-skeletal syndrome: report of two cases from Turkey with postmortem findings. ( 12405446 )
2002
11
Cerebro-oculo-facio-skeletal syndrome with a nucleotide excision- repair defect and a mutated XPD gene, with prenatal diagnosis in a triplet pregnancy. ( 11443545 )
2001
12
Cerebro-oculo-facio-skeletal syndrome as a human example for accelerated cochlear nerve degeneration. ( 11300264 )
2001
13
Manitoba aboriginal kindred with original cerebro-oculo-facio- skeletal syndrome has a mutation in the Cockayne syndrome group B (CSB) gene. ( 10739753 )
2000
14
A variant of the cerebro-oculo-facio-skeletal syndrome with congenital ectropion and a case of lamellar ichthyosis in the same family. ( 8026108 )
1994
15
Cerebro-oculo-facio-skeletal syndrome: further delineation. ( 1951466 )
1991
16
Cerebro-oculo-facio-skeletal syndrome. ( 3551738 )
1987
17
The Neu-COFS (cerebro-oculo-facio-skeletal) syndrome: report of a case. ( 6705255 )
1984
18
The cerebro-oculo-facio-skeletal syndrome. ( 7355980 )
1980
19
The cerebro-oculo-facio-skeletal syndrome. ( 97035 )
1978
20
The cerebro-oculo-facio-skeletal syndrome. ( 4212394 )
1974

Variations for Cerebro-Oculo-Facio-Skeletal Syndrome

ClinVar genetic disease variations for Cerebro-Oculo-Facio-Skeletal Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 ERCC6 ERCC6, 2-BP DEL, 3794AA deletion Pathogenic
2 ERCC6 NM_000124.3(ERCC6): c.2960T> C (p.Leu987Pro) single nucleotide variant Pathogenic rs121917905 GRCh37 Chromosome 10, 50679131: 50679131
3 ERCC6 ERCC6, 2254A-G single nucleotide variant Pathogenic
4 ERCC2 NM_000400.3(ERCC2): c.1846C> T (p.Arg616Trp) single nucleotide variant Pathogenic rs121913024 GRCh37 Chromosome 19, 45856060: 45856060
5 ERCC6 NM_000124.3(ERCC6): c.3862C> T (p.Arg1288Ter) single nucleotide variant Pathogenic rs185142838 GRCh37 Chromosome 10, 50669519: 50669519

Expression for Cerebro-Oculo-Facio-Skeletal Syndrome

Search GEO for disease gene expression data for Cerebro-Oculo-Facio-Skeletal Syndrome.

Pathways for Cerebro-Oculo-Facio-Skeletal Syndrome

Pathways related to Cerebro-Oculo-Facio-Skeletal Syndrome according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.8 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6
2
Show member pathways
12.47 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6
3
Show member pathways
12.24 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6
4 12.13 ERCC1 ERCC2 ERCC3 ERCC4
5
Show member pathways
11.63 ERCC2 ERCC3 ERCC6
6 11.43 ERCC1 ERCC4
7
Show member pathways
11.16 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6
8
Show member pathways
10.92 ERCC1 ERCC4
9 10.82 ERCC1 ERCC2 ERCC3 ERCC4 ERCC6

GO Terms for Cerebro-Oculo-Facio-Skeletal Syndrome

Cellular components related to Cerebro-Oculo-Facio-Skeletal Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 9.88 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6
2 core TFIIH complex GO:0000439 9.37 ERCC2 ERCC3
3 nucleotide-excision repair complex GO:0000109 9.32 ERCC1 ERCC4
4 ERCC4-ERCC1 complex GO:0070522 9.26 ERCC1 ERCC4
5 nucleotide-excision repair factor 1 complex GO:0000110 9.16 ERCC1 ERCC4
6 holo TFIIH complex GO:0005675 9.13 ERCC2 ERCC3 ERCC5
7 transcription factor TFIID complex GO:0005669 8.92 ERCC1 ERCC2 ERCC3 ERCC4

Biological processes related to Cerebro-Oculo-Facio-Skeletal Syndrome according to GeneCards Suite gene sharing:

(show all 30)
id Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 9.97 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6
2 DNA repair GO:0006281 9.93 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6
3 response to UV GO:0009411 9.83 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6
4 transcription from RNA polymerase II promoter GO:0006366 9.82 ERCC2 ERCC3 ERCC6
5 response to oxidative stress GO:0006979 9.81 ERCC1 ERCC2 ERCC3 ERCC6
6 nucleotide-excision repair GO:0006289 9.8 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5
7 global genome nucleotide-excision repair GO:0070911 9.78 ERCC1 ERCC2 ERCC3 ERCC4
8 nucleotide-excision repair, DNA incision GO:0033683 9.77 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5
9 multicellular organism growth GO:0035264 9.76 ERCC1 ERCC2 ERCC6
10 embryonic organ development GO:0048568 9.72 ERCC1 ERCC2 ERCC3
11 nucleotide-excision repair, DNA incision, 5-to lesion GO:0006296 9.72 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5
12 transcription elongation from RNA polymerase I promoter GO:0006362 9.71 ERCC2 ERCC3 ERCC6
13 nucleotide-excision repair, preincision complex assembly GO:0006294 9.7 ERCC2 ERCC3 ERCC5
14 nucleotide-excision repair, DNA incision, 3-to lesion GO:0006295 9.65 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5
15 transcription elongation from RNA polymerase II promoter GO:0006368 9.64 ERCC2 ERCC3
16 double-strand break repair via nonhomologous end joining GO:0006303 9.64 ERCC1 ERCC4
17 interstrand cross-link repair GO:0036297 9.63 ERCC1 ERCC4
18 7-methylguanosine mRNA capping GO:0006370 9.63 ERCC2 ERCC3
19 transcription initiation from RNA polymerase I promoter GO:0006361 9.62 ERCC2 ERCC3
20 termination of RNA polymerase I transcription GO:0006363 9.62 ERCC2 ERCC3
21 response to X-ray GO:0010165 9.61 ERCC1 ERCC6
22 nucleotide-excision repair, DNA duplex unwinding GO:0000717 9.61 ERCC2 ERCC3
23 regulation of mitotic cell cycle phase transition GO:1901990 9.6 ERCC2 ERCC3
24 hair cell differentiation GO:0035315 9.59 ERCC2 ERCC3
25 negative regulation of telomere maintenance GO:0032205 9.58 ERCC1 ERCC4
26 telomeric DNA-containing double minutes formation GO:0061819 9.57 ERCC1 ERCC4
27 negative regulation of protection from non-homologous end joining at telomere GO:1905765 9.56 ERCC1 ERCC4
28 nucleotide-excision repair, preincision complex stabilization GO:0006293 9.55 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5
29 transcription-coupled nucleotide-excision repair GO:0006283 9.43 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6
30 UV protection GO:0009650 9.02 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5

Molecular functions related to Cerebro-Oculo-Facio-Skeletal Syndrome according to GeneCards Suite gene sharing:

(show all 16)
id Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.88 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6
2 hydrolase activity GO:0016787 9.73 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6
3 helicase activity GO:0004386 9.7 ERCC2 ERCC3 ERCC6
4 nuclease activity GO:0004518 9.69 ERCC1 ERCC4 ERCC5
5 single-stranded DNA binding GO:0003697 9.63 ERCC1 ERCC4 ERCC5
6 endonuclease activity GO:0004519 9.61 ERCC1 ERCC4 ERCC5
7 ATP-dependent DNA helicase activity GO:0004003 9.56 ERCC2 ERCC3
8 endodeoxyribonuclease activity GO:0004520 9.55 ERCC4 ERCC5
9 RNA polymerase II carboxy-terminal domain kinase activity GO:0008353 9.54 ERCC2 ERCC3
10 damaged DNA binding GO:0003684 9.54 ERCC1 ERCC3 ERCC4
11 TFIID-class transcription factor binding GO:0001094 9.49 ERCC1 ERCC4
12 single-stranded DNA endodeoxyribonuclease activity GO:0000014 9.48 ERCC1 ERCC4
13 protein C-terminus binding GO:0008022 9.35 ERCC1 ERCC2 ERCC3 ERCC4 ERCC6
14 DNA-dependent ATPase activity GO:0008094 9.33 ERCC2 ERCC3 ERCC6
15 3 overhang single-stranded DNA endodeoxyribonuclease activity GO:1990599 9.32 ERCC1 ERCC4
16 protein N-terminus binding GO:0047485 9.02 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6

Sources for Cerebro-Oculo-Facio-Skeletal Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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