MCID: CRB099
MIFTS: 20

Cerebrooculofacioskeletal Syndrome 3

Categories: Genetic diseases, Bone diseases

Aliases & Classifications for Cerebrooculofacioskeletal Syndrome 3

MalaCards integrated aliases for Cerebrooculofacioskeletal Syndrome 3:

Name: Cerebrooculofacioskeletal Syndrome 3 53 28 13 69
Cofs3 53 71
Cerebro-Oculo-Facio-Skeletal Syndrome 3 71

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
early death
one consanguineous pakistani family and 1 unrelated patient have been reported (last curated september 2015)


HPO:

31
cerebrooculofacioskeletal syndrome 3:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Cerebrooculofacioskeletal Syndrome 3

OMIM : 53 Cerebrooculofacioskeletal syndrome is a severe, progressive neurologic disorder characterized by prenatal onset of arthrogryposis, microcephaly, and growth failure. Postnatal features include severe developmental delay, congenital cataracts (in some), and marked UV sensitivity of the skin. Survival beyond 6 years of age is rare. COFS represents the severe end of the spectrum of disorders caused by mutations in nucleotide excision repair (NER) genes, with Cockayne syndrome and xeroderma pigmentosum being milder NER-related phenotypes (summary by Drury et al., 2014). For a phenotypic description and a discussion of genetic heterogeneity of cerebrooculofacioskeletal syndrome, see COFS1 (214150). (616570)

MalaCards based summary : Cerebrooculofacioskeletal Syndrome 3, is also known as cofs3, 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 : 71 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

Symptoms & Phenotypes for Cerebrooculofacioskeletal Syndrome 3

Symptoms via clinical synopsis from OMIM:

53
Muscle Soft Tissue:
edema

Head And Neck Head:
microcephaly

Growth Other:
intrauterine growth retardation

Head And Neck Eyes:
microphthalmia (in some patients)

Skeletal:
arthrogryposis

Skeletal Hands:
clenched fists

Neurologic Central Nervous System:
lack of psychomotor development
immature cerebral sulcation (in some patients)
posterior fossa abnormalities (in some patients)

Head And Neck Ears:
low-set ears

Head And Neck Face:
micrognathia

Skeletal Feet:
talipes equinovarus
rocker bottom feet

Head And Neck Mouth:
cleft palate (in some patients)

Skin Nails Hair Skin:
sun sensitivity

Prenatal Manifestations Movement:
decreased fetal movements

Laboratory Abnormalities:
increased cellular uv sensitivity


Clinical features from OMIM:

616570

Human phenotypes related to Cerebrooculofacioskeletal Syndrome 3:

31 (show all 13)
# Description HPO Frequency HPO Source Accession
1 edema 31 HP:0000969
2 low-set ears 31 HP:0000369
3 global developmental delay 31 HP:0001263
4 microcephaly 31 HP:0000252
5 cleft palate 31 occasional (7.5%) HP:0000175
6 micrognathia 31 HP:0000347
7 intrauterine growth retardation 31 HP:0001511
8 arthrogryposis multiplex congenita 31 HP:0002804
9 microphthalmia 31 occasional (7.5%) HP:0000568
10 talipes equinovarus 31 HP:0001762
11 cutaneous photosensitivity 31 HP:0000992
12 decreased fetal movement 31 HP:0001558
13 rocker bottom foot 31 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:

# Genetic test Affiliating Genes
1 Cerebrooculofacioskeletal Syndrome 3 28 ERCC5

Anatomical Context for Cerebrooculofacioskeletal Syndrome 3

MalaCards organs/tissues related to Cerebrooculofacioskeletal Syndrome 3:

38
Skin

Publications for Cerebrooculofacioskeletal Syndrome 3

Variations for Cerebrooculofacioskeletal Syndrome 3

ClinVar genetic disease variations for Cerebrooculofacioskeletal Syndrome 3:

6
# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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