MCID: CRB091
MIFTS: 34

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 45 46 24
Pena Shokeir Syndrome Type 2 65
 
Pena-Shokeir Syndrome Type 2 45
Cofs Syndrome 45

Classifications:



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UMLS65 C2931277

Summaries for Cerebro-Oculo-Facio-Skeletal Syndrome

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NIH Rare Diseases:45 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. treatment involves supportive care and is based on an individual's symptoms. last updated: 7/14/2009

MalaCards based summary: Cerebro-Oculo-Facio-Skeletal Syndrome, also known as pena shokeir syndrome type 2, is related to cockayne syndrome type ii and cerebrooculofacioskeletal syndrome 2. An important gene associated with Cerebro-Oculo-Facio-Skeletal Syndrome is ERCC6 (Excision Repair Cross-Complementation Group 6), and among its related pathways are RNA Polymerase I Promoter Escape and Fanconi anemia pathway. Affiliated tissues include spinal cord, eye and brain, and related mouse phenotypes are tumorigenesis and adipose tissue.

NINDS:46 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 diseases related to Cerebro-Oculo-Facio-Skeletal Syndrome:



Diseases related to cerebro-oculo-facio-skeletal syndrome

Symptoms for Cerebro-Oculo-Facio-Skeletal Syndrome

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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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Anatomical Context for Cerebro-Oculo-Facio-Skeletal Syndrome

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

33
Spinal cord, Eye, Brain, Heart, Kidney, Liver, Temporal lobe

Animal Models for Cerebro-Oculo-Facio-Skeletal Syndrome or affiliated genes

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

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020069.1ERCC1, ERCC2, ERCC6
2MP:00053758.9ERCC1, ERCC2, ERCC6
3MP:00107718.6ERCC1, ERCC2, ERCC5, ERCC6
4MP:00053708.4ERCC1, ERCC4, ERCC5, ERCC6
5MP:00053787.5ERCC1, ERCC2, ERCC4, ERCC5, ERCC6
6MP:00107687.2ERCC1, ERCC2, ERCC4, ERCC5, ERCC6

Publications for Cerebro-Oculo-Facio-Skeletal Syndrome

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

(show all 21)
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 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
21

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
9.5ERCC2, ERCC6
2
Show member pathways
9.0ERCC1, ERCC4
3
Show member pathways
9.0ERCC1, ERCC4
48.1ERCC1, ERCC2, ERCC4, ERCC6
5
Show member pathways
7.5ERCC1, ERCC2, ERCC4, ERCC5, ERCC6
6
Show member pathways
7.5ERCC1, ERCC2, ERCC4, ERCC5, ERCC6
7
Show member pathways
7.5ERCC1, ERCC2, ERCC4, ERCC5, ERCC6
8
Show member pathways
7.5ERCC1, ERCC2, ERCC4, ERCC5, ERCC6

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

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

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1response to UVGO:00094119.9ERCC2, ERCC6
2nucleotide-excision repair, DNA incision, 5-to lesionGO:00062969.6ERCC4, ERCC5
3cellular response to DNA damage stimulusGO:00069749.5ERCC1, ERCC6
4global genome nucleotide-excision repairGO:00709119.5ERCC1, ERCC2
5cell proliferationGO:00082839.3ERCC1, ERCC2
6nucleic acid phosphodiester bond hydrolysisGO:00903059.3ERCC1, ERCC5
7nucleotide-excision repairGO:00062899.3ERCC1, ERCC4
8nucleotide-excision repair, DNA incision, 3-to lesionGO:00062959.2ERCC1, ERCC4
9multicellular organism growthGO:00352649.2ERCC1, ERCC2, ERCC6
10response to oxidative stressGO:00069799.1ERCC1, ERCC2, ERCC6
11UV protectionGO:00096508.6ERCC1, ERCC2, ERCC4, ERCC5
12nucleotide-excision repair, preincision complex stabilizationGO:00062938.4ERCC1, ERCC2, ERCC4, ERCC5
13transcription-coupled nucleotide-excision repairGO:00062838.4ERCC1, ERCC2, ERCC4, ERCC6
14DNA repairGO:00062818.1ERCC2, ERCC4, ERCC5, ERCC6
15nucleotide-excision repair, DNA incisionGO:00336838.1ERCC1, ERCC2, ERCC4, ERCC5

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

idNameGO IDScoreTop Affiliating Genes
1protein C-terminus bindingGO:00080229.0ERCC1, ERCC4
2nuclease activityGO:00045189.0ERCC4, ERCC5
3single-stranded DNA bindingGO:00036978.5ERCC1, ERCC4, ERCC5

Sources for Cerebro-Oculo-Facio-Skeletal Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet