MCID: CRB099
MIFTS: 19

Cerebrooculofacioskeletal Syndrome 3 malady

Genetic diseases (common), Bone diseases categories

Aliases & Classifications for Cerebrooculofacioskeletal Syndrome 3

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Aliases & Descriptions for Cerebrooculofacioskeletal Syndrome 3:

Name: Cerebrooculofacioskeletal Syndrome 3 49 11
Cerebro-Oculo-Facio-Skeletal Syndrome 3 67
 
Cofs3 67


Classifications:



External Ids:

OMIM49 616570
MedGen34 C1851443

Summaries for Cerebrooculofacioskeletal Syndrome 3

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OMIM:49 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, microphthalmos and microcephaly. An important gene associated with Cerebrooculofacioskeletal Syndrome 3 is ERCC5 (Excision Repair Cross-Complementation Group 5). Affiliated tissues include skin and bone.

UniProtKB/Swiss-Prot:67 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:68 Xeroderma pigmentosum, or XP, is an 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 1 family:

cerebrooculofacioskeletal syndrome 3 Cerebrooculofacioskeletal Syndrome 4
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 110.1

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 microphthalmos 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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Anatomical Context for Cerebrooculofacioskeletal Syndrome 3

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MalaCards organs/tissues related to Cerebrooculofacioskeletal Syndrome 3:

33
Skin, Bone

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
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