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 52 27 12 68
Cerebro-Oculo-Facio-Skeletal Syndrome 3 70
 
Cofs3 70

Classifications:



External Ids:

OMIM52 616570
MedGen37 C1851443

Summaries for Cerebrooculofacioskeletal Syndrome 3

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OMIM:52 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:70 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 & Phenotypes 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:

 64 (show all 13)
id Description HPO Frequency HPO Source Accession
1 cleft palate64 rare (5%) HP:0000175
2 microphthalmia64 rare (5%) HP:0000568
3 microcephaly64 HP:0000252
4 micrognathia64 HP:0000347
5 low-set ears64 HP:0000369
6 edema64 HP:0000969
7 cutaneous photosensitivity64 HP:0000992
8 global developmental delay64 HP:0001263
9 intrauterine growth retardation64 HP:0001511
10 decreased fetal movement64 HP:0001558
11 talipes equinovarus64 HP:0001762
12 rocker bottom foot64 HP:0001838
13 arthrogryposis multiplex congenita64 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 327

Anatomical Context for Cerebrooculofacioskeletal Syndrome 3

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MalaCards organs/tissues related to Cerebrooculofacioskeletal Syndrome 3:

36
Skin

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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet