MCID: CRB100
MIFTS: 26

Cerebrooculofacioskeletal Syndrome 4

Categories: Genetic diseases, Bone diseases

Aliases & Classifications for Cerebrooculofacioskeletal Syndrome 4

MalaCards integrated aliases for Cerebrooculofacioskeletal Syndrome 4:

Name: Cerebrooculofacioskeletal Syndrome 4 53 28 13 69
Cofs4 53 71
Cerebro-Oculo-Facio-Skeletal Syndrome 4 71
Cofs Syndrome 71

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
variable severity
onset at birth
early death
two unrelated patients have been reported (last curated june 2013)


HPO:

31
cerebrooculofacioskeletal syndrome 4:
Onset and clinical course variable expressivity congenital onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Cerebrooculofacioskeletal Syndrome 4

OMIM : 53 Cerebrooculofacioskeletal syndrome-4 is a severe autosomal recessive disorder characterized by growth retardation, dysmorphic facial features, arthrogryposis, and neurologic abnormalities. Cellular studies show a defect in both transcription-coupled and global genome nucleotide excision repair (TC-NER and GG-NER) (summary by Jaspers et al., 2007 and Kashiyama et al., 2013). For a discussion of genetic heterogeneity of cerebrooculofacioskeletal syndrome, see 214150. (610758)

MalaCards based summary : Cerebrooculofacioskeletal Syndrome 4, also known as cofs4, is related to cerebro-oculo-facio-skeletal syndrome and cerebrooculofacioskeletal syndrome 1, and has symptoms including nystagmus, hyperreflexia and eeg abnormality. An important gene associated with Cerebrooculofacioskeletal Syndrome 4 is ERCC1 (ERCC Excision Repair 1, Endonuclease Non-Catalytic Subunit). Affiliated tissues include bone and eye.

UniProtKB/Swiss-Prot : 71 Cerebro-oculo-facio-skeletal syndrome 4: 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 4

Diseases in the Cerebrooculofacioskeletal Syndrome 1 family:

Cerebrooculofacioskeletal Syndrome 2 Cerebrooculofacioskeletal Syndrome 4
Cerebrooculofacioskeletal Syndrome 3

Diseases related to Cerebrooculofacioskeletal Syndrome 4 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 cerebro-oculo-facio-skeletal syndrome 11.7
2 cerebrooculofacioskeletal syndrome 1 11.6
3 cerebrooculofacioskeletal syndrome 2 11.3
4 congenital intrauterine infection-like syndrome 10.9

Symptoms & Phenotypes for Cerebrooculofacioskeletal Syndrome 4

Symptoms via clinical synopsis from OMIM:

53
NeurologicCentralNervousSystem:
stiff limbs
hypertonia
cerebellar hypoplasia
polymicrogyria
developmental delay
more
HeadAndNeckEyes:
nystagmus
microphthalmia
blepharophimosis
deep-set eyes

HeadAndNeckHead:
microcephaly

GrowthOther:
intrauterine growth retardation
poor growth

SkeletalSpine:
kyphoscoliosis

SkeletalLimbs:
dislocated radial head
slender long bones
flared metaphyses

Skeletal:
joint contractures
arthrogryposis

SkeletalSkull:
premature closure of fontanels

HeadAndNeckEars:
low-set ears
posteriorly rotated ears

NeurologicPeripheralNervousSystem:
hyperreflexia

HeadAndNeckFace:
micrognathia
short philtrum

SkeletalPelvis:
hip dislocation
sloping acetabulae

SkeletalHands:
camptodactyly
adducted thumbs

HeadAndNeckNose:
high nasal bridge

SkeletalFeet:
rocker-bottom feet

LaboratoryAbnormalities:
patient cells show a defect in transcription-coupled and global genome nucleotide excision repair


Clinical features from OMIM:

610758

Human phenotypes related to Cerebrooculofacioskeletal Syndrome 4:

31 (show all 30)
# Description HPO Frequency HPO Source Accession
1 nystagmus 31 HP:0000639
2 hyperreflexia 31 HP:0001347
3 eeg abnormality 31 HP:0002353
4 global developmental delay 31 HP:0001263
5 microcephaly 31 HP:0000252
6 short stature 31 HP:0004322
7 hypertonia 31 HP:0001276
8 micrognathia 31 HP:0000347
9 intrauterine growth retardation 31 HP:0001511
10 failure to thrive in infancy 31 HP:0001531
11 arthrogryposis multiplex congenita 31 HP:0002804
12 prominent nasal bridge 31 HP:0000426
13 hip dislocation 31 HP:0002827
14 cerebellar hypoplasia 31 HP:0001321
15 short philtrum 31 HP:0000322
16 deeply set eye 31 HP:0000490
17 low-set, posteriorly rotated ears 31 HP:0000368
18 blepharophimosis 31 HP:0000581
19 adducted thumb 31 HP:0001181
20 camptodactyly of finger 31 HP:0100490
21 flexion contracture of toe 31 HP:0005830
22 polymicrogyria 31 HP:0002126
23 kyphoscoliosis 31 HP:0002751
24 rocker bottom foot 31 HP:0001838
25 slender long bone 31 HP:0003100
26 dislocated radial head 31 HP:0003083
27 flared metaphysis 31 HP:0003015
28 bilateral microphthalmos 31 HP:0007633
29 premature closure of fontanelles 31 HP:0005458
30 cortical gyral simplification 31 HP:0009879

UMLS symptoms related to Cerebrooculofacioskeletal Syndrome 4:


stiff limbs

Drugs & Therapeutics for Cerebrooculofacioskeletal Syndrome 4

Search Clinical Trials , NIH Clinical Center for Cerebrooculofacioskeletal Syndrome 4

Genetic Tests for Cerebrooculofacioskeletal Syndrome 4

Genetic tests related to Cerebrooculofacioskeletal Syndrome 4:

# Genetic test Affiliating Genes
1 Cerebrooculofacioskeletal Syndrome 4 28 ERCC1

Anatomical Context for Cerebrooculofacioskeletal Syndrome 4

MalaCards organs/tissues related to Cerebrooculofacioskeletal Syndrome 4:

38
Bone, Eye

Publications for Cerebrooculofacioskeletal Syndrome 4

Articles related to Cerebrooculofacioskeletal Syndrome 4:

# Title Authors Year
1
ERCC6 founder mutation identified in Finnish patients with COFS syndrome. ( 20456449 )
2010
2
MICRO syndrome: an entity distinct from COFS syndrome. ( 15216543 )
2004

Variations for Cerebrooculofacioskeletal Syndrome 4

UniProtKB/Swiss-Prot genetic disease variations for Cerebrooculofacioskeletal Syndrome 4:

71
# Symbol AA change Variation ID SNP ID
1 ERCC1 p.Phe231Leu VAR_032776 rs121913028

ClinVar genetic disease variations for Cerebrooculofacioskeletal Syndrome 4:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ERCC1 NM_001983.3(ERCC1): c.472C> T (p.Gln158Ter) single nucleotide variant Pathogenic rs121913027 GRCh37 Chromosome 19, 45922409: 45922409
2 ERCC1 NM_202001.2(ERCC1): c.693C> G (p.Phe231Leu) single nucleotide variant Pathogenic rs121913028 GRCh37 Chromosome 19, 45918128: 45918128
3 ERCC1 NM_001166049.1(ERCC1): c.184G> T (p.Glu62Ter) single nucleotide variant Likely pathogenic rs150584960 GRCh38 Chromosome 19, 45421315: 45421315

Expression for Cerebrooculofacioskeletal Syndrome 4

Search GEO for disease gene expression data for Cerebrooculofacioskeletal Syndrome 4.

Pathways for Cerebrooculofacioskeletal Syndrome 4

GO Terms for Cerebrooculofacioskeletal Syndrome 4

Sources for Cerebrooculofacioskeletal Syndrome 4

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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