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 57 29 13 6 73
Cofs4 57 75
Cerebro-Oculo-Facio-Skeletal Syndrome 4 75
Cofs Syndrome 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
cerebrooculofacioskeletal syndrome 4:
Onset and clinical course variable expressivity congenital onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Cerebrooculofacioskeletal Syndrome 4

OMIM : 57 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 stiff limbs An important gene associated with Cerebrooculofacioskeletal Syndrome 4 is ERCC1 (ERCC Excision Repair 1, Endonuclease Non-Catalytic Subunit). Affiliated tissues include bone and eye, and related phenotypes are nystagmus and hyperreflexia

UniProtKB/Swiss-Prot : 75 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
5 infantile epileptic encephalopathy 9.9

Graphical network of the top 20 diseases related to Cerebrooculofacioskeletal Syndrome 4:



Diseases related to Cerebrooculofacioskeletal Syndrome 4

Symptoms & Phenotypes for Cerebrooculofacioskeletal Syndrome 4

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
low-set ears
posteriorly rotated ears

Neurologic Peripheral Nervous System:
hyperreflexia

Neurologic Central Nervous System:
hypertonia
cerebellar hypoplasia
polymicrogyria
developmental delay
abnormal eeg
more
Growth Other:
intrauterine growth retardation
poor growth

Skeletal Spine:
kyphoscoliosis

Skeletal Limbs:
dislocated radial head
slender long bones
flared metaphyses

Skeletal:
joint contractures
arthrogryposis

Skeletal Skull:
premature closure of fontanels

Head And Neck Eyes:
nystagmus
microphthalmia
blepharophimosis
deep-set eyes

Head And Neck Head:
microcephaly

Head And Neck Face:
micrognathia
short philtrum

Skeletal Pelvis:
hip dislocation
sloping acetabulae

Skeletal Hands:
camptodactyly
adducted thumbs

Head And Neck Nose:
high nasal bridge

Skeletal Feet:
rocker-bottom feet

Laboratory Abnormalities:
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:

32 (show all 30)
# Description HPO Frequency HPO Source Accession
1 nystagmus 32 HP:0000639
2 hyperreflexia 32 HP:0001347
3 eeg abnormality 32 HP:0002353
4 global developmental delay 32 HP:0001263
5 microcephaly 32 HP:0000252
6 short stature 32 HP:0004322
7 hypertonia 32 HP:0001276
8 micrognathia 32 HP:0000347
9 intrauterine growth retardation 32 HP:0001511
10 failure to thrive in infancy 32 HP:0001531
11 arthrogryposis multiplex congenita 32 HP:0002804
12 prominent nasal bridge 32 HP:0000426
13 hip dislocation 32 HP:0002827
14 cerebellar hypoplasia 32 HP:0001321
15 short philtrum 32 HP:0000322
16 deeply set eye 32 HP:0000490
17 low-set, posteriorly rotated ears 32 HP:0000368
18 blepharophimosis 32 HP:0000581
19 adducted thumb 32 HP:0001181
20 camptodactyly of finger 32 HP:0100490
21 flexion contracture of toe 32 HP:0005830
22 polymicrogyria 32 HP:0002126
23 kyphoscoliosis 32 HP:0002751
24 rocker bottom foot 32 HP:0001838
25 slender long bone 32 HP:0003100
26 dislocated radial head 32 HP:0003083
27 flared metaphysis 32 HP:0003015
28 bilateral microphthalmos 32 HP:0007633
29 premature closure of fontanelles 32 HP:0005458
30 cortical gyral simplification 32 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 29 ERCC1

Anatomical Context for Cerebrooculofacioskeletal Syndrome 4

MalaCards organs/tissues related to Cerebrooculofacioskeletal Syndrome 4:

41
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
3
Infantile spasms in COFS syndrome. ( 1930425 )
1991
4
Chondro-osseous changes in Cerebro-Oculo-Facial-Skeletal (COFS) syndrome. ( 7153815 )
1982

Variations for Cerebrooculofacioskeletal Syndrome 4

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

75
# 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_001983.3(ERCC1): c.472C> T (p.Gln158Ter) single nucleotide variant Pathogenic rs121913027 GRCh38 Chromosome 19, 45419151: 45419151
3 ERCC1 NM_202001.2(ERCC1): c.693C> G (p.Phe231Leu) single nucleotide variant Pathogenic rs121913028 GRCh37 Chromosome 19, 45918128: 45918128
4 ERCC1 NM_202001.2(ERCC1): c.693C> G (p.Phe231Leu) single nucleotide variant Pathogenic rs121913028 GRCh38 Chromosome 19, 45414870: 45414870
5 ERCC1 NM_001166049.1(ERCC1): c.184G> T (p.Glu62Ter) single nucleotide variant Likely pathogenic rs150584960 GRCh38 Chromosome 19, 45421315: 45421315
6 ERCC1 NM_001166049.1(ERCC1): c.184G> T (p.Glu62Ter) single nucleotide variant Likely pathogenic rs150584960 GRCh37 Chromosome 19, 45924573: 45924573

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
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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