MCID: CRB099
MIFTS: 17

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 51 26 12 67
Cerebro-Oculo-Facio-Skeletal Syndrome 3 69
 
Cofs3 69

Classifications:



External Ids:

OMIM51 616570
MedGen36 C1851443

Summaries for Cerebrooculofacioskeletal Syndrome 3

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OMIM:51 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:69 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.

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 110.9

Symptoms for Cerebrooculofacioskeletal Syndrome 3

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Symptoms by clinical synopsis from OMIM:

616570

Clinical features from OMIM:

616570

Human phenotypes related to Cerebrooculofacioskeletal Syndrome 3:

 63 (show all 13)
id Description HPO Frequency HPO Source Accession
1 cleft palate63 rare (5%) HP:0000175
2 microphthalmia63 rare (5%) HP:0000568
3 microcephaly63 HP:0000252
4 micrognathia63 HP:0000347
5 low-set ears63 HP:0000369
6 edema63 HP:0000969
7 cutaneous photosensitivity63 HP:0000992
8 global developmental delay63 HP:0001263
9 intrauterine growth retardation63 HP:0001511
10 decreased fetal movement63 HP:0001558
11 talipes equinovarus63 HP:0001762
12 rocker bottom foot63 HP:0001838
13 arthrogryposis multiplex congenita63 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 326

Anatomical Context for Cerebrooculofacioskeletal Syndrome 3

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MalaCards organs/tissues related to Cerebrooculofacioskeletal Syndrome 3:

35
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, 2972TdeletionPathogenicChr na, -1: -1
2ERCC5NM_000123.3(ERCC5): c.2766dupA (p.Leu923Thrfs)duplicationPathogenicrs886037752GRCh37Chr 13, 103524635: 103524635

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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet