MCID: CRB091
MIFTS: 35

Cerebro-Oculo-Facio-Skeletal Syndrome malady

Categories: Rare diseases, Bone diseases

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

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

Name: Cerebro-Oculo-Facio-Skeletal Syndrome 48 49 27
Pena Shokeir Syndrome Type 2 68
 
Pena-Shokeir Syndrome Type 2 48
Cofs Syndrome 48

Classifications:



Summaries for Cerebro-Oculo-Facio-Skeletal Syndrome

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NIH Rare Diseases:48 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 ERCC2 (ERCC Excision Repair 2, TFIIH Core Complex Helicase Subunit), and among its related pathways are Cyclophosphamide Pathway, Pharmacodynamics and Fanconi anemia pathway. Affiliated tissues include spinal cord, brain and eye, and related mouse phenotypes are Increased viability with MLN4924 (a NAE inhibitor) and liver/biliary system.

NINDS:49 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

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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

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

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00250-A-38.6ERCC1, ERCC2, ERCC3, ERCC4, ERCC6

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

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053709.2ERCC1, ERCC4, ERCC5, ERCC6
2MP:00053848.6ERCC1, ERCC2, ERCC3, ERCC4, ERCC6
3MP:00107718.5ERCC1, ERCC2, ERCC3, ERCC5, ERCC6
4MP:00020068.3ERCC1, ERCC2, ERCC3, ERCC6
5MP:00053787.9ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6
6MP:00107687.8ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6

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

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Acute Effects of Coffee Beverage on Postprandial Inflammation and Oxidative Stress - A Pilot StudyActive, not recruitingNCT02174640

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

Genetic Tests for Cerebro-Oculo-Facio-Skeletal Syndrome

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

id Genetic test Affiliating Genes
1 Cerebro-Oculo-Facio-Skeletal Syndrome27

Anatomical Context for Cerebro-Oculo-Facio-Skeletal Syndrome

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

36
Spinal cord, Brain, Eye

Publications for Cerebro-Oculo-Facio-Skeletal Syndrome

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

(show all 20)
idTitleAuthorsYear
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: report of two cases from Turkey with postmortem findings. (12405446)
2002
10
Cerebro-oculo-facio-skeletal syndrome in a neonate. (12196689)
2002
11
Cerebro-oculo-facio-skeletal syndrome as a human example for accelerated cochlear nerve degeneration. (11300264)
2001
12
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
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

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

5
id Gene Variation Type Significance SNP ID Assembly Location
1ERCC2NM_000400.3(ERCC2): c.1846C> T (p.Arg616Trp)SNVPathogenicrs121913024GRCh37Chr 19, 45856060: 45856060

Expression for genes affiliated with Cerebro-Oculo-Facio-Skeletal Syndrome

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

Pathways for genes affiliated with Cerebro-Oculo-Facio-Skeletal Syndrome

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

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.4ERCC1, ERCC4
2
Show member pathways
9.4ERCC1, ERCC4
3
Show member pathways
8.8ERCC2, ERCC3, ERCC6
48.2ERCC1, ERCC2, ERCC3, ERCC4
57.7ERCC1, ERCC2, ERCC3, ERCC4, ERCC6
6
Show member pathways
7.1ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6
7
Show member pathways
7.1ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6
8
Show member pathways
7.1ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6
9
Show member pathways
7.1ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6

GO Terms for genes affiliated with Cerebro-Oculo-Facio-Skeletal Syndrome

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

idNameGO IDScoreTop Affiliating Genes
1ERCC4-ERCC1 complexGO:007052210.3ERCC1, ERCC4
2nucleotide-excision repair complexGO:000010910.2ERCC1, ERCC4
3nucleotide-excision repair factor 1 complexGO:000011010.2ERCC1, ERCC4
4core TFIIH complexGO:000043910.1ERCC2, ERCC3
5holo TFIIH complexGO:00056759.4ERCC2, ERCC3, ERCC5
6transcription factor TFIID complexGO:00056699.4ERCC1, ERCC4
7nucleoplasmGO:00056547.9ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6
8nucleusGO:00056347.5ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6

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

(show all 26)
idNameGO IDScoreTop Affiliating Genes
1response to X-rayGO:001016510.2ERCC1, ERCC6
2interstrand cross-link repairGO:003629710.1ERCC1, ERCC4
3negative regulation of telomere maintenanceGO:003220510.1ERCC1, ERCC4
47-methylguanosine mRNA cappingGO:000637010.0ERCC2, ERCC3
5hair cell differentiationGO:003531510.0ERCC2, ERCC3
6nucleotide-excision repair, DNA duplex unwindingGO:000071710.0ERCC2, ERCC3
7regulation of mitotic cell cycle phase transitionGO:19019909.9ERCC2, ERCC3
8termination of RNA polymerase I transcriptionGO:00063639.9ERCC2, ERCC3
9transcription elongation from RNA polymerase II promoterGO:00063689.9ERCC2, ERCC3
10embryonic organ developmentGO:00485689.9ERCC1, ERCC3
11multicellular organism growthGO:00352649.8ERCC1, ERCC2, ERCC6
12transcription initiation from RNA polymerase I promoterGO:00063619.8ERCC2, ERCC3
13transcription elongation from RNA polymerase I promoterGO:00063629.5ERCC2, ERCC3, ERCC6
14transcription from RNA polymerase II promoterGO:00063669.3ERCC2, ERCC3, ERCC6
15nucleotide-excision repair, preincision complex assemblyGO:00062949.3ERCC2, ERCC3, ERCC5
16response to oxidative stressGO:00069799.0ERCC1, ERCC2, ERCC3, ERCC6
17global genome nucleotide-excision repairGO:00709118.9ERCC1, ERCC2, ERCC3, ERCC4
18nucleotide-excision repairGO:00062898.9ERCC1, ERCC2, ERCC3, ERCC4
19DNA repairGO:00062818.5ERCC1, ERCC2, ERCC3, ERCC4, ERCC6
20response to UVGO:00094118.3ERCC2, ERCC3, ERCC4, ERCC5, ERCC6
21nucleotide-excision repair, DNA incisionGO:00336838.3ERCC1, ERCC2, ERCC3, ERCC4, ERCC5
22nucleotide-excision repair, DNA incision, 3-to lesionGO:00062958.3ERCC1, ERCC2, ERCC3, ERCC4, ERCC5
23nucleotide-excision repair, DNA incision, 5-to lesionGO:00062968.3ERCC1, ERCC2, ERCC3, ERCC4, ERCC5
24nucleotide-excision repair, preincision complex stabilizationGO:00062938.3ERCC1, ERCC2, ERCC3, ERCC4, ERCC5
25UV protectionGO:00096507.6ERCC1, ERCC2, ERCC3, ERCC4, ERCC5
26transcription-coupled nucleotide-excision repairGO:00062837.4ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6

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

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1endodeoxyribonuclease activityGO:000452010.0ERCC4, ERCC5
2ATP-dependent DNA helicase activityGO:00040039.9ERCC2, ERCC3
3RNA polymerase II carboxy-terminal domain kinase activityGO:00083539.8ERCC2, ERCC3
4single-stranded DNA endodeoxyribonuclease activityGO:00000149.7ERCC1, ERCC4
5structure-specific DNA bindingGO:00435669.6ERCC1, ERCC4
6TFIID-class transcription factor bindingGO:00010949.4ERCC1, ERCC4
7DNA-dependent ATPase activityGO:00080949.4ERCC2, ERCC3, ERCC6
8damaged DNA bindingGO:00036849.3ERCC1, ERCC3, ERCC4
9single-stranded DNA bindingGO:00036979.2ERCC1, ERCC4, ERCC5
10protein C-terminus bindingGO:00080228.3ERCC1, ERCC2, ERCC3, ERCC4, ERCC6
11protein N-terminus bindingGO:00474858.2ERCC2, ERCC3, ERCC4, ERCC5, ERCC6

Sources for Cerebro-Oculo-Facio-Skeletal Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet