COFS3
MCID: CRB099
MIFTS: 29

Cerebrooculofacioskeletal Syndrome 3 (COFS3)

Categories: Bone diseases, Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Cerebrooculofacioskeletal Syndrome 3

MalaCards integrated aliases for Cerebrooculofacioskeletal Syndrome 3:

Name: Cerebrooculofacioskeletal Syndrome 3 57 29 6 72
Cofs3 57 74
Cerebro-Oculo-Facio-Skeletal Syndrome 3 74

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
cerebrooculofacioskeletal syndrome 3:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

MedGen 42 C1851443
UMLS 72 C1851443

Summaries for Cerebrooculofacioskeletal Syndrome 3

OMIM : 57 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, also known as cofs3, is related to pectus excavatum, and has symptoms including edema An important gene associated with Cerebrooculofacioskeletal Syndrome 3 is ERCC5 (ERCC Excision Repair 5, Endonuclease), and among its related pathways/superpathways is Nucleotide excision repair. Affiliated tissues include skin and brain, and related phenotypes are cleft palate and microphthalmia

UniProtKB/Swiss-Prot : 74 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 : 75 Xeroderma pigmentosum (XP) is a genetic disorder in which there is a decreased ability to repair DNA... more...

Related Diseases for Cerebrooculofacioskeletal Syndrome 3

Diseases in the Cerebrooculofacioskeletal Syndrome 1 family:

Cerebrooculofacioskeletal Syndrome 2 Cerebrooculofacioskeletal Syndrome 4
Cerebrooculofacioskeletal Syndrome 3

Diseases related to Cerebrooculofacioskeletal Syndrome 3 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 pectus excavatum 9.2 ERCC5 BIVM-ERCC5

Symptoms & Phenotypes for Cerebrooculofacioskeletal Syndrome 3

Human phenotypes related to Cerebrooculofacioskeletal Syndrome 3:

32 (show all 13)
# Description HPO Frequency HPO Source Accession
1 cleft palate 32 occasional (7.5%) HP:0000175
2 microphthalmia 32 occasional (7.5%) HP:0000568
3 low-set ears 32 HP:0000369
4 global developmental delay 32 HP:0001263
5 microcephaly 32 HP:0000252
6 micrognathia 32 HP:0000347
7 edema 32 HP:0000969
8 cutaneous photosensitivity 32 HP:0000992
9 intrauterine growth retardation 32 HP:0001511
10 arthrogryposis multiplex congenita 32 HP:0002804
11 talipes equinovarus 32 HP:0001762
12 decreased fetal movement 32 HP:0001558
13 rocker bottom foot 32 HP:0001838

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
low-set ears

Head And Neck Face:
micrognathia

Growth Other:
intrauterine growth retardation

Head And Neck Eyes:
microphthalmia (in some patients)

Skeletal:
arthrogryposis

Skeletal Hands:
clenched fists

Prenatal Manifestations Movement:
decreased fetal movements

Head And Neck Head:
microcephaly

Muscle Soft Tissue:
edema

Skeletal Feet:
talipes equinovarus
rocker bottom feet

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

Skin Nails Hair Skin:
sun sensitivity

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

Laboratory Abnormalities:
increased cellular uv sensitivity

Clinical features from OMIM:

616570

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 29 ERCC5

Anatomical Context for Cerebrooculofacioskeletal Syndrome 3

MalaCards organs/tissues related to Cerebrooculofacioskeletal Syndrome 3:

41
Skin, Brain

Publications for Cerebrooculofacioskeletal Syndrome 3

Articles related to Cerebrooculofacioskeletal Syndrome 3:

# Title Authors PMID Year
1
A novel homozygous ERCC5 truncating mutation in a family with prenatal arthrogryposis--further evidence of genotype-phenotype correlation. 8 71
24700531 2014
2
Cerebro-oculo-facio-skeletal syndrome with a nucleotide excision-repair defect and a mutated XPD gene, with prenatal diagnosis in a triplet pregnancy. 8 71
11443545 2001
3
A common mutational pattern in Cockayne syndrome patients from xeroderma pigmentosum group G: implications for a second XPG function. 8 71
9096355 1997
4
Xeroderma pigmentosum--Cockayne syndrome complex: a further case. 8 71
8818951 1996
5
XPG stabilizes TFIIH, allowing transactivation of nuclear receptors: implications for Cockayne syndrome in XP-G/CS patients. 71
17466625 2007

Variations for Cerebrooculofacioskeletal Syndrome 3

ClinVar genetic disease variations for Cerebrooculofacioskeletal Syndrome 3:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 ERCC5 ERCC5, 1-BP DEL, 2972T deletion Pathogenic
2 ERCC5 NM_000123.3(ERCC5): c.2766dup (p.Leu923fs) duplication Pathogenic rs760232640 13:103524635-103524635 13:102872285-102872285
3 ERCC5 NM_000123.3(ERCC5): c.2818G> A (p.Val940Met) single nucleotide variant Uncertain significance rs146344855 13:103524687-103524687 13:102872337-102872337
4 ERCC5 NM_000123.3(ERCC5): c.2281G> A (p.Ala761Thr) single nucleotide variant Uncertain significance rs142438319 13:103518693-103518693 13:102866343-102866343

Expression for Cerebrooculofacioskeletal Syndrome 3

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

Pathways for Cerebrooculofacioskeletal Syndrome 3

Pathways related to Cerebrooculofacioskeletal Syndrome 3 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.69 ERCC5 BIVM-ERCC5

GO Terms for Cerebrooculofacioskeletal Syndrome 3

Biological processes related to Cerebrooculofacioskeletal Syndrome 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA repair GO:0006281 9.16 ERCC5 BIVM-ERCC5
2 nucleotide-excision repair GO:0006289 8.96 ERCC5 BIVM-ERCC5
3 nucleotide-excision repair, DNA incision, 3'-to lesion GO:0006295 8.62 ERCC5 BIVM-ERCC5

Molecular functions related to Cerebrooculofacioskeletal Syndrome 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 catalytic activity GO:0003824 9.37 ERCC5 BIVM-ERCC5
2 nuclease activity GO:0004518 9.32 ERCC5 BIVM-ERCC5
3 single-stranded DNA binding GO:0003697 9.26 ERCC5 BIVM-ERCC5
4 endonuclease activity GO:0004519 9.16 ERCC5 BIVM-ERCC5
5 hydrolase activity, acting on ester bonds GO:0016788 8.96 ERCC5 BIVM-ERCC5
6 endodeoxyribonuclease activity GO:0004520 8.62 ERCC5 BIVM-ERCC5

Sources for Cerebrooculofacioskeletal Syndrome 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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