MCID: CRB099
MIFTS: 18

Cerebrooculofacioskeletal Syndrome 3 malady

Categories: Genetic diseases (common), Bone diseases

Aliases & Classifications for Cerebrooculofacioskeletal Syndrome 3

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Aliases & Descriptions for Cerebrooculofacioskeletal Syndrome 3:

Name: Cerebrooculofacioskeletal Syndrome 3 50 25 12 66
Cerebro-Oculo-Facio-Skeletal Syndrome 3 68
 
Cofs3 68

Classifications:



External Ids:

OMIM50 616570
MedGen35 C1851443

Summaries for Cerebrooculofacioskeletal Syndrome 3

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OMIM:50 Cerebrooculofacioskeletal syndrome is a severe, progressive neurologic disorder characterized by prenatal onset of... (616570) more...

MalaCards based summary: Cerebrooculofacioskeletal Syndrome 3, also known as cerebro-oculo-facio-skeletal syndrome 3, is related to cerebrooculofacioskeletal syndrome 1, and has symptoms including cleft palate, microphthalmia and microcephaly. An important gene associated with Cerebrooculofacioskeletal Syndrome 3 is ERCC5 (ERCC Excision Repair 5, Endonuclease). Affiliated tissues include skin.

UniProtKB/Swiss-Prot:68 Cerebro-oculo-facio-skeletal syndrome 3: A disorder of prenatal onset characterized by microcephaly, congenital cataracts, facial dysmorphism, neurogenic arthrogryposis, growth failure and severe psychomotor retardation. COFS is considered to be part of the nucleotide-excision repair disorders spectrum that include also xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome.

Wikipedia:69 Xeroderma pigmentosum (XP) is a rare autosomal recessive genetic disorder of DNA repair in which the... more...

Related Diseases for Cerebrooculofacioskeletal Syndrome 3

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Diseases in the Cerebrooculofacioskeletal Syndrome 4 family:

Cerebrooculofacioskeletal Syndrome 1 cerebrooculofacioskeletal syndrome 3
Cerebrooculofacioskeletal Syndrome 2

Diseases related to Cerebrooculofacioskeletal Syndrome 3 via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1cerebrooculofacioskeletal syndrome 110.0

Symptoms for Cerebrooculofacioskeletal Syndrome 3

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Symptoms by clinical synopsis from OMIM:

616570

Clinical features from OMIM:

616570

HPO human phenotypes related to Cerebrooculofacioskeletal Syndrome 3:

(show all 13)
id Description Frequency HPO Source Accession
1 cleft palate rare (5%) HP:0000175
2 microphthalmia rare (5%) HP:0000568
3 microcephaly HP:0000252
4 micrognathia HP:0000347
5 low-set ears HP:0000369
6 edema HP:0000969
7 cutaneous photosensitivity HP:0000992
8 global developmental delay HP:0001263
9 intrauterine growth retardation HP:0001511
10 decreased fetal movement HP:0001558
11 talipes equinovarus HP:0001762
12 rocker bottom foot HP:0001838
13 arthrogryposis multiplex congenita HP:0002804

Drugs & Therapeutics for Cerebrooculofacioskeletal Syndrome 3

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Cerebrooculofacioskeletal Syndrome 3

Genetic Tests for Cerebrooculofacioskeletal Syndrome 3

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Genetic tests related to Cerebrooculofacioskeletal Syndrome 3:

id Genetic test Affiliating Genes
1 Cerebrooculofacioskeletal Syndrome 325

Anatomical Context for Cerebrooculofacioskeletal Syndrome 3

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MalaCards organs/tissues related to Cerebrooculofacioskeletal Syndrome 3:

34
Skin

Animal Models for Cerebrooculofacioskeletal Syndrome 3 or affiliated genes

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Publications for Cerebrooculofacioskeletal Syndrome 3

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Variations for Cerebrooculofacioskeletal Syndrome 3

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Clinvar genetic disease variations for Cerebrooculofacioskeletal Syndrome 3:

5
id Gene Variation Type Significance SNP ID Assembly Location
1ERCC5ERCC5, 1-BP DEL, 2972TdeletionPathogenic
2ERCC5ERCC5, 1-BP DUP, 2766AduplicationPathogenic

Expression for genes affiliated with Cerebrooculofacioskeletal Syndrome 3

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Search GEO for disease gene expression data for Cerebrooculofacioskeletal Syndrome 3.

Pathways for genes affiliated with Cerebrooculofacioskeletal Syndrome 3

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GO Terms for genes affiliated with Cerebrooculofacioskeletal Syndrome 3

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Sources for Cerebrooculofacioskeletal Syndrome 3

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet