MCID: CRB091
MIFTS: 35

Cerebro-Oculo-Facio-Skeletal Syndrome malady

Bone diseases category

Summaries for Cerebro-Oculo-Facio-Skeletal Syndrome

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42NIH Rare Diseases, 43NINDS, 63Wikipedia, 32MalaCards
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NIH Rare Diseases:42 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: Cerebro-Oculo-Facio-Skeletal Syndrome, also known as cofs syndrome, is related to cockayne syndrome and ectropion. An important gene associated with Cerebro-Oculo-Facio-Skeletal Syndrome is ERCC6 (excision repair cross-complementing rodent repair deficiency, complementation group 6), and among its related pathways are Nucleotide Excision Repair and Formation of RNA Pol II elongation complex . 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 liver/biliary system and adipose tissue.

NINDS:43 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.

Wikipedia:63 Cockayne syndrome (also called Weber-Cockayne syndrome, or Neill-Dingwall syndrome) is a rare autosomal... more...

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

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42NIH Rare Diseases, 22GTR, 43NINDS, 44Novoseek
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Classifications:

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


Aliases & Descriptions:

cerebro-oculo-facio-skeletal syndrome 42 22 43
cofs syndrome 42 44


Related Diseases for Cerebro-Oculo-Facio-Skeletal Syndrome

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17GeneCards, 18GeneDecks
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Diseases related to Cerebro-Oculo-Facio-Skeletal Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 18)
idRelated DiseaseScoreTop Affiliating Genes
1cockayne syndrome30.6ERCC2, ERCC5, ERCC1, ERCC6
2ectropion10.4
3cockayne syndrome type ii10.4
4micro syndrome10.1
5mental retardation10.0ERCC2
6neutropenia10.0ERCC2
7photosensitive trichothiodystrophy10.0ERCC2, ERCC5
8leukemia10.0ERCC2
9adenoma10.0ERCC1, ERCC2
10ovarian cancer10.0ERCC1, ERCC2
11colorectal cancer10.0ERCC2, ERCC1
12adenocarcinoma10.0ERCC1, ERCC2
13basal cell carcinoma10.0ERCC1, ERCC2
14testicular cancer10.0ERCC1, ERCC2
15melanoma10.0ERCC5, ERCC1, ERCC2
16lung cancer10.0ERCC1, ERCC6, ERCC2
17prostate cancer10.0ERCC1, ERCC5, ERCC2
18xeroderma pigmentosum10.0ERCC2, ERCC5, ERCC1, ERCC6

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



Diseases related to cerebro-oculo-facio-skeletal syndrome

Clinical Features for Cerebro-Oculo-Facio-Skeletal Syndrome

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

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Cerebro-Oculo-Facio-Skeletal Syndrome

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22GTR
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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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32MalaCards
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MalaCards organs/tissues related to Cerebro-Oculo-Facio-Skeletal Syndrome:

32
Eye, Brain, Spinal cord, Heart, Kidney

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

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36MGI
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MGI Mouse Phenotypes related to Cerebro-Oculo-Facio-Skeletal Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053709.7ERCC5
2MP:00053758.6ERCC6, ERCC2, ERCC1
3MP:00107718.1ERCC2, ERCC5, ERCC1, ERCC6
4MP:00053978.1ERCC6, ERCC1, ERCC5, ERCC2
5MP:00053878.0ERCC1, ERCC5, ERCC2, ERCC6
6MP:00053768.0ERCC6, ERCC1, ERCC5, ERCC2
7MP:00053787.9ERCC2, ERCC6, ERCC1, ERCC5

Publications for Cerebro-Oculo-Facio-Skeletal Syndrome

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Genetic 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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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Cerebro-Oculo-Facio-Skeletal Syndrome

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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53Reactome, 37NCBI BioSystems Database, 51QIAGEN, 29KEGG
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Pathways related to Cerebro-Oculo-Facio-Skeletal Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
8.0ERCC6, ERCC1, ERCC5, ERCC2
2
Hide members
8.0ERCC6, ERCC1, ERCC5, ERCC2
3
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8.0ERCC2, ERCC5, ERCC1, ERCC6
4
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8.0ERCC2, ERCC5, ERCC1, ERCC6

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

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44Novoseek, 49PharmGKB, 11DrugBank, 59Tocris Bioscience
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Compounds related to Cerebro-Oculo-Facio-Skeletal Syndrome according to GeneCards/GeneDecks:

(show all 16)
idCompoundScoreTop Affiliating Genes
1thymine glycol449.7ERCC5, ERCC6
2ecteinascidin 743449.6ERCC2, ERCC5
3platinum compounds499.3ERCC2, ERCC1
4vinorelbine44 1110.3ERCC2, ERCC1
5bcnu449.3ERCC1, ERCC2
6platinum44 4910.3ERCC2, ERCC1
7oxaliplatin44 49 1111.2ERCC1, ERCC2
8melphalan44 1110.2ERCC2, ERCC1
9irinotecan44 49 1111.2ERCC2, ERCC1
10gemcitabine44 49 1111.1ERCC2, ERCC1
11vincristine44 49 1111.1ERCC1, ERCC2
12thymidylate449.0ERCC2, ERCC1
13methotrexate44 49 1111.0ERCC2, ERCC1
14docetaxel44 49 59 1111.9ERCC2, ERCC1
15cyclophosphamide44 49 1110.7ERCC2, ERCC1
16cisplatin44 49 59 1111.7ERCC2, ERCC5, ERCC1

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

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16Gene Ontology
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Cellular components related to Cerebro-Oculo-Facio-Skeletal Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1holo TFIIH complexGO:0056759.0ERCC2, ERCC5
2nucleoplasmGO:0056548.0ERCC2, ERCC5, ERCC1, ERCC6

Biological processes related to Cerebro-Oculo-Facio-Skeletal Syndrome according to GeneCards/GeneDecks:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1nucleotide-excision repair, DNA incision, 3-to lesionGO:0062959.2ERCC5, ERCC1
2response to UVGO:0094119.1ERCC6, ERCC5
3response to X-rayGO:0101659.0ERCC1, ERCC6
4UV protectionGO:0096508.7ERCC1, ERCC5, ERCC2
5nucleotide-excision repair, DNA damage removalGO:0007188.7ERCC2, ERCC5, ERCC1
6multicellular organism growthGO:0352648.6ERCC6, ERCC2, ERCC1
7response to oxidative stressGO:0069798.5ERCC2, ERCC6, ERCC1
8negative regulation of apoptotic processGO:0430668.5ERCC2, ERCC5, ERCC1
9transcription-coupled nucleotide-excision repairGO:0062838.2ERCC6, ERCC5, ERCC2, ERCC1
10nucleotide-excision repairGO:0062898.2ERCC1, ERCC6, ERCC2, ERCC5
11DNA repairGO:0062818.1ERCC6, ERCC2, ERCC5, ERCC1

Molecular functions related to Cerebro-Oculo-Facio-Skeletal Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1single-stranded DNA bindingGO:0036979.1ERCC5, ERCC1
2DNA-dependent ATPase activityGO:0080949.0ERCC2, ERCC6
3protein N-terminus bindingGO:0474858.8ERCC2, ERCC5, ERCC6
4protein C-terminus bindingGO:0080228.4ERCC6, ERCC1, ERCC2

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
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet