COFS4
MCID: CRB100
MIFTS: 22

Cerebrooculofacioskeletal Syndrome 4 (COFS4) malady

Categories: Genetic diseases, Bone diseases

Aliases & Classifications for Cerebrooculofacioskeletal Syndrome 4

Aliases & Descriptions for Cerebrooculofacioskeletal Syndrome 4:

Name: Cerebrooculofacioskeletal Syndrome 4 54 24 29 13 69
Cerebro-Oculo-Facio-Skeletal Syndrome 4 66
Cofs Syndrome 66
Cofs4 66

Characteristics:

HPO:

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


Classifications:



External Ids:

OMIM 54 610758
MedGen 40 C1853100

Summaries for Cerebrooculofacioskeletal Syndrome 4

OMIM : 54 Cerebrooculofacioskeletal syndrome-4 is a severe autosomal recessive disorder characterized by growth retardation,... (610758) more...

MalaCards based summary : Cerebrooculofacioskeletal Syndrome 4, also known as cerebro-oculo-facio-skeletal syndrome 4, 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 : 66 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 4 family:

Cerebrooculofacioskeletal Syndrome 1 Cerebrooculofacioskeletal Syndrome 3
Cerebrooculofacioskeletal Syndrome 2

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

id Related Disease Score Top Affiliating Genes
1 cerebro-oculo-facio-skeletal syndrome 11.6
2 cerebrooculofacioskeletal syndrome 1 11.0
3 cerebrooculofacioskeletal syndrome 2 10.8

Symptoms & Phenotypes for Cerebrooculofacioskeletal Syndrome 4

Symptoms by clinical synopsis from OMIM:

610758

Clinical features from OMIM:

610758

Human phenotypes related to Cerebrooculofacioskeletal Syndrome 4:

32 (show all 30)
id 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 arthrogryposis multiplex congenita 32 HP:0002804
10 prominent nasal bridge 32 HP:0000426
11 hip dislocation 32 HP:0002827
12 cerebellar hypoplasia 32 HP:0001321
13 short philtrum 32 HP:0000322
14 intrauterine growth retardation 32 HP:0001511
15 deeply set eye 32 HP:0000490
16 low-set, posteriorly rotated ears 32 HP:0000368
17 blepharophimosis 32 HP:0000581
18 adducted thumb 32 HP:0001181
19 failure to thrive in infancy 32 HP:0001531
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:

id Genetic test Affiliating Genes
1 Cerebrooculofacioskeletal Syndrome 4 29 24 ERCC1

Anatomical Context for Cerebrooculofacioskeletal Syndrome 4

MalaCards organs/tissues related to Cerebrooculofacioskeletal Syndrome 4:

39
Bone, Eye

Publications for Cerebrooculofacioskeletal Syndrome 4

Variations for Cerebrooculofacioskeletal Syndrome 4

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

66
id Symbol AA change Variation ID SNP ID
1 ERCC1 p.Phe231Leu VAR_032776 rs121913028

ClinVar genetic disease variations for Cerebrooculofacioskeletal Syndrome 4:

6
id 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

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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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