COFS3
MCID: CRB099
MIFTS: 18

Cerebrooculofacioskeletal Syndrome 3 (COFS3) malady

Categories: Genetic diseases, Bone diseases

Aliases & Classifications for Cerebrooculofacioskeletal Syndrome 3

Aliases & Descriptions for Cerebrooculofacioskeletal Syndrome 3:

Name: Cerebrooculofacioskeletal Syndrome 3 54 29 13 69
Cerebro-Oculo-Facio-Skeletal Syndrome 3 66
Cofs3 66

Characteristics:

HPO:

32
cerebrooculofacioskeletal syndrome 3:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 616570
MedGen 40 C1851443

Summaries for Cerebrooculofacioskeletal Syndrome 3

OMIM : 54 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 edema, low-set ears and global developmental delay. An important gene associated with Cerebrooculofacioskeletal Syndrome 3 is ERCC5 (ERCC Excision Repair 5, Endonuclease). Affiliated tissues include skin.

UniProtKB/Swiss-Prot : 66 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 : 71 Xeroderma pigmentosum (XP) is a rare autosomal recessive genetic disorder of DNA repair in which the... more...

Related Diseases for Cerebrooculofacioskeletal Syndrome 3

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:

id Related Disease Score Top Affiliating Genes
1 cerebrooculofacioskeletal syndrome 1 10.9

Symptoms & Phenotypes for Cerebrooculofacioskeletal Syndrome 3

Symptoms by clinical synopsis from OMIM:

616570

Clinical features from OMIM:

616570

Human phenotypes related to Cerebrooculofacioskeletal Syndrome 3:

32 (show all 13)
id Description HPO Frequency HPO Source Accession
1 edema 32 HP:0000969
2 low-set ears 32 HP:0000369
3 global developmental delay 32 HP:0001263
4 microcephaly 32 HP:0000252
5 cleft palate 32 HP:0000175
6 micrognathia 32 HP:0000347
7 arthrogryposis multiplex congenita 32 HP:0002804
8 microphthalmia 32 HP:0000568
9 intrauterine growth retardation 32 HP:0001511
10 talipes equinovarus 32 HP:0001762
11 cutaneous photosensitivity 32 HP:0000992
12 decreased fetal movement 32 HP:0001558
13 rocker bottom foot 32 HP:0001838

UMLS symptoms related to Cerebrooculofacioskeletal Syndrome 3:


edema

Drugs & Therapeutics for Cerebrooculofacioskeletal Syndrome 3

Search Clinical Trials , NIH Clinical Center for Cerebrooculofacioskeletal Syndrome 3

Genetic Tests for Cerebrooculofacioskeletal Syndrome 3

Genetic tests related to Cerebrooculofacioskeletal Syndrome 3:

id Genetic test Affiliating Genes
1 Cerebrooculofacioskeletal Syndrome 3 29

Anatomical Context for Cerebrooculofacioskeletal Syndrome 3

MalaCards organs/tissues related to Cerebrooculofacioskeletal Syndrome 3:

39
Skin

Publications for Cerebrooculofacioskeletal Syndrome 3

Variations for Cerebrooculofacioskeletal Syndrome 3

ClinVar genetic disease variations for Cerebrooculofacioskeletal Syndrome 3:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 ERCC5 ERCC5, 1-BP DEL, 2972T deletion Pathogenic
2 ERCC5 NM_000123.3(ERCC5): c.2766dupA (p.Leu923Thrfs) duplication Pathogenic rs886037752 GRCh37 Chromosome 13, 103524635: 103524635

Expression for Cerebrooculofacioskeletal Syndrome 3

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

Pathways for Cerebrooculofacioskeletal Syndrome 3

GO Terms for Cerebrooculofacioskeletal Syndrome 3

Sources for Cerebrooculofacioskeletal Syndrome 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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