MCID: CRB091
MIFTS: 37

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 ERCC6 (ERCC Excision Repair 6, Chromatin Remodeling Factor), and among its related pathways are Cyclophosphamide Pathway, Pharmacodynamics and Fanconi anemia pathway. Affiliated tissues include eye, spinal cord and brain, 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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Diseases related to Cerebro-Oculo-Facio-Skeletal Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 27)
idRelated DiseaseScoreTop Affiliating Genes
1cerebrooculofacioskeletal syndrome 232.6ERCC1, ERCC2, ERCC3
2cerebrooculofacioskeletal syndrome 112.1
3cerebrooculofacioskeletal syndrome 312.0
4cerebrooculofacioskeletal syndrome 412.0
5cockayne syndrome type ii11.4
6ichthyosis10.4
7ectropion10.2
8cockayne syndrome10.2
9collagenopathy type 2 alpha 110.0ERCC4, ERCC6
10collagenous gastritis10.0ERCC1, ERCC6
11myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay10.0ERCC1, ERCC4
12bone marrow failure syndrome 210.0ERCC1, ERCC4
13macular degeneration, age-related 59.9ERCC2, ERCC5, ERCC6
14trichothiodystrophy 2, photosensitive9.7ERCC1, ERCC2, ERCC3
15myoclonic-atonic epilepsy9.7ERCC2, ERCC3
16lymphedema-distichiasis syndrome9.7ERCC1, ERCC2, ERCC4
17autoimmune disease 39.7ERCC1, ERCC2, ERCC3
18qazi markouizos syndrome9.7ERCC1, ERCC2, ERCC3
19fanconi anemia, complementation group q9.6ERCC1, ERCC2, ERCC4, ERCC5
20specific language impairment9.6ERCC2, ERCC3, ERCC5, ERCC6
21confetti-like macular atrophy9.5ERCC2, ERCC3, ERCC4, ERCC5
22t-cell large granular lymphocyte leukemia9.5ERCC1, ERCC2, ERCC3, ERCC5
23bile acid malabsorption, primary9.5ERCC1, ERCC3, ERCC4, ERCC5
24charcot-marie-tooth disease type 2a9.2ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6
253-methylglutaconic aciduria, type iii9.2ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6
26renal artery obstruction9.2ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6
27retinitis pigmentosa 7 and digenic9.2ERCC1, 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

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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
Eye, Spinal cord, Brain, Kidney, Heart

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 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

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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:007052210.2ERCC1, ERCC4
2core TFIIH complexGO:000043910.0ERCC2, ERCC3
3nucleotide-excision repair complexGO:00001099.9ERCC1, ERCC4
4nucleotide-excision repair factor 1 complexGO:00001109.8ERCC1, ERCC4
5holo TFIIH complexGO:00056759.3ERCC2, ERCC3, ERCC5
6transcription factor TFIID complexGO:00056698.2ERCC1, ERCC2, ERCC3, ERCC4
7nucleoplasmGO:00056547.6ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6

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

(show all 30)
idNameGO IDScoreTop Affiliating Genes
1response to X-rayGO:001016510.2ERCC1, ERCC6
2double-strand break repair via nonhomologous end joiningGO:000630310.2ERCC1, ERCC4
3interstrand cross-link repairGO:003629710.2ERCC1, ERCC4
4negative regulation of protection from non-homologous end joining at telomereGO:190576510.1ERCC1, ERCC4
5negative regulation of telomere maintenanceGO:003220510.1ERCC1, ERCC4
6telomeric DNA-containing double minutes formationGO:006181910.1ERCC1, ERCC4
77-methylguanosine mRNA cappingGO:00063709.9ERCC2, ERCC3
8hair cell differentiationGO:00353159.9ERCC2, ERCC3
9nucleotide-excision repair, DNA duplex unwindingGO:00007179.9ERCC2, ERCC3
10regulation of mitotic cell cycle phase transitionGO:19019909.9ERCC2, ERCC3
11termination of RNA polymerase I transcriptionGO:00063639.9ERCC2, ERCC3
12transcription elongation from RNA polymerase II promoterGO:00063689.9ERCC2, ERCC3
13multicellular organism growthGO:00352649.8ERCC1, ERCC2, ERCC6
14transcription initiation from RNA polymerase I promoterGO:00063619.7ERCC2, ERCC3
15transcription elongation from RNA polymerase I promoterGO:00063629.5ERCC2, ERCC3, ERCC6
16embryonic organ developmentGO:00485689.4ERCC1, ERCC2, ERCC3
17transcription from RNA polymerase II promoterGO:00063669.3ERCC2, ERCC3, ERCC6
18nucleotide-excision repair, preincision complex assemblyGO:00062949.3ERCC2, ERCC3, ERCC5
19response to oxidative stressGO:00069799.0ERCC1, ERCC2, ERCC3, ERCC6
20global genome nucleotide-excision repairGO:00709118.9ERCC1, ERCC2, ERCC3, ERCC4
21response to UVGO:00094118.3ERCC2, ERCC3, ERCC4, ERCC5, ERCC6
22nucleotide-excision repairGO:00062898.2ERCC1, ERCC2, ERCC3, ERCC4, ERCC5
23nucleotide-excision repair, DNA incisionGO:00336838.2ERCC1, ERCC2, ERCC3, ERCC4, ERCC5
24nucleotide-excision repair, DNA incision, 3-to lesionGO:00062958.2ERCC1, ERCC2, ERCC3, ERCC4, ERCC5
25nucleotide-excision repair, DNA incision, 5-to lesionGO:00062968.2ERCC1, ERCC2, ERCC3, ERCC4, ERCC5
26nucleotide-excision repair, preincision complex stabilizationGO:00062938.2ERCC1, ERCC2, ERCC3, ERCC4, ERCC5
27cellular response to DNA damage stimulusGO:00069747.9ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6
28DNA repairGO:00062817.8ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6
29UV protectionGO:00096507.5ERCC1, ERCC2, ERCC3, ERCC4, ERCC5
30transcription-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 16)
idNameGO IDScoreTop Affiliating Genes
13 overhang single-stranded DNA endodeoxyribonuclease activityGO:199059910.2ERCC1, ERCC4
2endodeoxyribonuclease activityGO:000452010.1ERCC4, ERCC5
3ATP-dependent DNA helicase activityGO:000400310.0ERCC2, ERCC3
4RNA polymerase II carboxy-terminal domain kinase activityGO:00083539.7ERCC2, ERCC3
5single-stranded DNA endodeoxyribonuclease activityGO:00000149.6ERCC1, ERCC4
6endonuclease activityGO:00045199.6ERCC1, ERCC4, ERCC5
7DNA-dependent ATPase activityGO:00080949.5ERCC2, ERCC3, ERCC6
8helicase activityGO:00043869.5ERCC2, ERCC3, ERCC6
9nuclease activityGO:00045189.5ERCC1, ERCC4, ERCC5
10TFIID-class transcription factor bindingGO:00010949.4ERCC1, ERCC4
11damaged DNA bindingGO:00036849.4ERCC1, ERCC3, ERCC4
12single-stranded DNA bindingGO:00036979.1ERCC1, ERCC4, ERCC5
13protein C-terminus bindingGO:00080228.3ERCC1, ERCC2, ERCC3, ERCC4, ERCC6
14protein N-terminus bindingGO:00474858.2ERCC2, ERCC3, ERCC4, ERCC5, ERCC6
15DNA bindingGO:00036777.9ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6
16hydrolase activityGO:00167877.8ERCC1, ERCC2, 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