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 56 29 6 71
Cofs3 56 73
Cerebro-Oculo-Facio-Skeletal Syndrome 3 73

Characteristics:

OMIM:

56
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 : 56 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 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, brain and eye, and related phenotypes are cleft palate and microphthalmia

UniProtKB/Swiss-Prot : 73 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 : 74 Xeroderma pigmentosum (XP) is a genetic disorder in which there is a decreased ability to repair DNA... more...

Related Diseases for Cerebrooculofacioskeletal Syndrome 3

Symptoms & Phenotypes for Cerebrooculofacioskeletal Syndrome 3

Human phenotypes related to Cerebrooculofacioskeletal Syndrome 3:

31 (show all 13)
# Description HPO Frequency HPO Source Accession
1 cleft palate 31 occasional (7.5%) HP:0000175
2 microphthalmia 31 occasional (7.5%) HP:0000568
3 low-set ears 31 HP:0000369
4 global developmental delay 31 HP:0001263
5 micrognathia 31 HP:0000347
6 intrauterine growth retardation 31 HP:0001511
7 microcephaly 31 HP:0000252
8 arthrogryposis multiplex congenita 31 HP:0002804
9 edema 31 HP:0000969
10 cutaneous photosensitivity 31 HP:0000992
11 talipes equinovarus 31 HP:0001762
12 rocker bottom foot 31 HP:0001838
13 decreased fetal movement 31 HP:0001558

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Ears:
low-set ears

Growth Other:
intrauterine growth retardation

Muscle Soft Tissue:
edema

Head And Neck Eyes:
microphthalmia (in some patients)

Skeletal:
arthrogryposis

Skeletal Hands:
clenched fists

Prenatal Manifestations Movement:
decreased fetal movements

Head And Neck Face:
micrognathia

Head And Neck Head:
microcephaly

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:

40
Skin, Brain, Eye, Bone

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. 56 6
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. 56 6
11443545 2001
3
A common mutational pattern in Cockayne syndrome patients from xeroderma pigmentosum group G: implications for a second XPG function. 56 6
9096355 1997
4
Xeroderma pigmentosum--Cockayne syndrome complex: a further case. 56 6
8818951 1996
5
XPG stabilizes TFIIH, allowing transactivation of nuclear receptors: implications for Cockayne syndrome in XP-G/CS patients. 6
17466625 2007

Variations for Cerebrooculofacioskeletal Syndrome 3

ClinVar genetic disease variations for Cerebrooculofacioskeletal Syndrome 3:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ERCC5 NM_000123.3(ERCC5):c.2766dup (p.Leu923fs)duplication Pathogenic 209978 rs760232640 13:103524633-103524634 13:102872283-102872284
2 ERCC5 ERCC5, 1-BP DEL, 2972Tdeletion Pathogenic 16568
3 ERCC5 NM_000123.4(ERCC5):c.2427del (p.Asp809fs)deletion Likely pathogenic 800881 13:103519089-103519089 13:102866739-102866739
4 ERCC5 NM_000123.3(ERCC5):c.2818G>A (p.Val940Met)SNV Conflicting interpretations of pathogenicity 310936 rs146344855 13:103524687-103524687 13:102872337-102872337
5 ERCC5 NM_000123.3(ERCC5):c.2281G>A (p.Ala761Thr)SNV Uncertain significance 134160 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 9.26 ERCC5 BIVM-ERCC5
2 nucleic acid phosphodiester bond hydrolysis GO:0090305 9.16 ERCC5 BIVM-ERCC5
3 nucleotide-excision repair GO:0006289 8.96 ERCC5 BIVM-ERCC5
4 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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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