MCID: CRB091
MIFTS: 38

Cerebro-Oculo-Facio-Skeletal Syndrome malady

Rare diseases, Bone diseases categories

Summaries for Cerebro-Oculo-Facio-Skeletal Syndrome

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NIH Rare Diseases:41 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 cofs syndrome, is related to cockayne syndrome and cerebrooculofacioskeletal syndrome 1. 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 Cell Cycle / Checkpoint Control. The compounds thymine glycol and ecteinascidin 743 have been mentioned in the context of this disorder. Affiliated tissues include eye, brain and spinal cord, and related mouse phenotypes are adipose tissue and tumorigenesis.

NINDS:42 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 mental retardation, 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.

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

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Sources:
41NIH Rare Diseases, 42NINDS, 43Novoseek, 22GTR, 60UMLS
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Cerebro-Oculo-Facio-Skeletal Syndrome, Aliases & Descriptions:

Name: Cerebro-Oculo-Facio-Skeletal Syndrome 41 42 22
Cofs Syndrome 41 43
Cerebrooculofacioskeletal Syndrome 41
 
Pena-Shokeir Syndrome Type 2 41
Pena Shokeir Syndrome Type 2 60


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases
Anatomical: Bone diseases


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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Drug clinical trials:

Search ClinicalTrials for Cerebro-Oculo-Facio-Skeletal Syndrome

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 Syndrome22

Anatomical Context for Cerebro-Oculo-Facio-Skeletal Syndrome

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

31
Eye, Brain, Spinal cord, Heart, Kidney

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:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053758.7ERCC2, ERCC1, ERCC6
2MP:00020068.6ERCC6, ERCC1, ERCC2
3MP:00053708.5ERCC5, ERCC1, ERCC6
4MP:00053908.5ERCC6, ERCC1, ERCC2
5MP:00107718.2ERCC6, ERCC1, ERCC2, ERCC5
6MP:00053978.2ERCC6, ERCC1, ERCC2, ERCC5
7MP:00053878.1ERCC6, ERCC1, ERCC2, ERCC5
8MP:00053788.1ERCC5, ERCC2, ERCC1, ERCC6
9MP:00053768.0ERCC5, ERCC2, ERCC1, ERCC6
10MP:00107687.7ERCC6, ERCC1, ERCC2, ERCC5

Publications for Cerebro-Oculo-Facio-Skeletal Syndrome

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

(show all 19)
idTitleAuthorsYear
1
Cerebro-oculo-facio-skeletal syndrome. (22980622)
2012
2
Cerebro-oculo-facio-skeletal syndrome. (20687508)
2010
3
CafAc au lait macules and cerebro-oculo-facio-skeletal syndrome: a novel association. (19250421)
2009
4
Cerebro-oculo-facio-skeletal syndrome: three additional cases with CSB mutations, new diagnostic criteria and an approach to investigation. (18628313)
2008
5
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
6
Cerebro-oculo-facio-skeletal syndrome complicated by congenital ichthyosis. (16317307)
2006
7
Muscle involvement in the cerebro-oculo-facio-skeletal syndrome. (14984906)
2004
8
Cerebro-oculo-facio-skeletal syndrome: report of two cases from Turkey with postmortem findings. (12405446)
2002
9
Cerebro-oculo-facio-skeletal syndrome in a neonate. (12196689)
2002
10
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
11
Cerebro-oculo-facio-skeletal syndrome as a human example for accelerated cochlear nerve degeneration. (11300264)
2001
12
Manitoba aboriginal kindred with original cerebro-oculo-facio- skeletal syndrome has a mutation in the Cockayne syndrome group B (CSB) gene. (10739753)
2000
13
A variant of the cerebro-oculo-facio-skeletal syndrome with congenital ectropion and a case of lamellar ichthyosis in the same family. (8026108)
1994
14
Cerebro-oculo-facio-skeletal syndrome: further delineation. (1951466)
1991
15
Cerebro-oculo-facio-skeletal syndrome. (3551738)
1987
16
The Neu-COFS (cerebro-oculo-facio-skeletal) syndrome: report of a case. (6705255)
1984
17
The cerebro-oculo-facio-skeletal syndrome. (7355980)
1980
18
The cerebro-oculo-facio-skeletal syndrome. (97035)
1978
19
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:

6
id Gene Variation Type Significance SNP ID Assembly Location
1ERCC2NM_000400.3(ERCC2): c.1846C> T (p.Arg616Trp)single nucleotide variantPathogenicrs121913024GRCh37Chr 19, 45856060: 45856060
2ERCC6NM_000124.3(ERCC6): c.2047C> T (p.Arg683Ter)single nucleotide variantPathogenicrs121917904GRCh37Chr 10, 50690855: 50690855
3ERCC6NM_000124.3(ERCC6): c.2960T> C (p.Leu987Pro)single nucleotide variantPathogenicrs121917905GRCh37Chr 10, 50679131: 50679131
4ERCC6NM_000124.3(ERCC6): c.3862C> T (p.Arg1288Ter)single nucleotide variantPathogenicrs185142838GRCh37Chr 10, 50669519: 50669519

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

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

(show all 20)
idCompoundScoreTop Affiliating Genes
1thymine glycol439.8ERCC6, ERCC5
2ecteinascidin 743439.7ERCC5, ERCC2
3platinum compounds499.3ERCC1, ERCC2
4vinorelbine43 49 1211.3ERCC2, ERCC1
5bcnu439.3ERCC1, ERCC2
6fluorouracil49 1210.3ERCC1, ERCC2
7leucovorin43 49 1211.3ERCC1, ERCC2
8oxaliplatin43 49 1211.3ERCC2, ERCC1
9melphalan43 49 1211.3ERCC1, ERCC2
10irinotecan43 49 1211.2ERCC1, ERCC2
11gemcitabine43 49 1211.2ERCC2, ERCC1
12thymidylate439.2ERCC1, ERCC2
13vincristine43 49 1211.1ERCC2, ERCC1
14docetaxel43 49 59 1212.1ERCC1, ERCC2
15cyclophosphamide43 49 1211.0ERCC1, ERCC2
16paclitaxel43 49 1211.0ERCC1, ERCC2
17methotrexate49 43 1210.9ERCC2, ERCC1
18platinum43 499.8ERCC1, ERCC2, ERCC5
19cisplatin43 49 59 1211.8ERCC5, ERCC2, ERCC1
205fluorouracil438.7ERCC1, ERCC2

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
1holo TFIIH complexGO:00056759.3ERCC2, ERCC5
2nucleolusGO:00057308.6ERCC6, ERCC1, ERCC5
3nucleoplasmGO:00056547.9ERCC6, ERCC1, ERCC2, ERCC5
4nucleusGO:00056347.7ERCC5, ERCC2, ERCC1, ERCC6

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

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1response to UVGO:00094119.3ERCC6, ERCC5
2nucleotide-excision repair, DNA incision, 3-to lesionGO:00062959.3ERCC1, ERCC5
3response to X-rayGO:00101659.2ERCC6, ERCC1
4DNA catabolic process, endonucleolyticGO:00007379.1ERCC5, ERCC1
5ATP catabolic processGO:00062009.0ERCC6, ERCC2
6cell proliferationGO:00082839.0ERCC1, ERCC2
7UV protectionGO:00096508.7ERCC5, ERCC2, ERCC1
8nucleotide-excision repair, DNA damage removalGO:00007188.7ERCC1, ERCC2, ERCC5
9multicellular organism growthGO:00352648.7ERCC2, ERCC1, ERCC6
10response to oxidative stressGO:00069798.6ERCC6, ERCC1, ERCC2
11transcription-coupled nucleotide-excision repairGO:00062838.3ERCC6, ERCC1, ERCC2, ERCC5
12nucleotide-excision repairGO:00062898.2ERCC6, ERCC1, ERCC2, ERCC5
13DNA repairGO:00062818.2ERCC6, ERCC1, ERCC2, ERCC5

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

idNameGO IDScoreTop Affiliating Genes
1DNA-dependent ATPase activityGO:00080949.2ERCC2, ERCC6
2protein N-terminus bindingGO:00474858.9ERCC6, ERCC2, ERCC5
3single-stranded DNA bindingGO:00036978.8ERCC1, ERCC5
4protein C-terminus bindingGO:00080228.5ERCC6, ERCC1, ERCC2
5protein bindingGO:00055158.0ERCC6, ERCC1, ERCC2, ERCC5

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

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Sources for Cerebro-Oculo-Facio-Skeletal Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet