MCID: CRB100
MIFTS: 24

Cerebrooculofacioskeletal Syndrome 4 malady

Genetic diseases (common), Bone diseases categories

Aliases & Classifications for Cerebrooculofacioskeletal Syndrome 4

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Aliases & Descriptions for Cerebrooculofacioskeletal Syndrome 4:

Name: Cerebrooculofacioskeletal Syndrome 4 49 11 22 65
Cerebro-Oculo-Facio-Skeletal Syndrome 4 67
 
Cofs Syndrome 67
Cofs4 67


Classifications:



External Ids:

OMIM49 610758
MedGen34 C1853100

Summaries for Cerebrooculofacioskeletal Syndrome 4

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OMIM:49 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 autosomal recessive inheritance, microcephaly and short philtrum. An important gene associated with Cerebrooculofacioskeletal Syndrome 4 is ERCC1 (Excision Repair Cross-Complementation Group 1). Affiliated tissues include bone and eye.

UniProtKB/Swiss-Prot:67 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

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Diseases in the Cerebrooculofacioskeletal Syndrome 1 family:

Cerebrooculofacioskeletal Syndrome 3 cerebrooculofacioskeletal syndrome 4
Cerebrooculofacioskeletal Syndrome 2

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

idRelated DiseaseScoreTop Affiliating Genes
1cerebro-oculo-facio-skeletal syndrome10.5
2cerebrooculofacioskeletal syndrome 110.4
3cerebrooculofacioskeletal syndrome 210.1
4cockayne syndrome type ii10.1

Symptoms for Cerebrooculofacioskeletal Syndrome 4

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Symptoms by clinical synopsis from OMIM:

610758

Clinical features from OMIM:

610758

HPO human phenotypes related to Cerebrooculofacioskeletal Syndrome 4:

(show all 33)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 microcephaly HP:0000252
3 short philtrum HP:0000322
4 micrognathia HP:0000347
5 low-set, posteriorly rotated ears HP:0000368
6 prominent nasal bridge HP:0000426
7 deeply set eye HP:0000490
8 blepharophimosis HP:0000581
9 nystagmus HP:0000639
10 adducted thumb HP:0001181
11 global developmental delay HP:0001263
12 hypertonia HP:0001276
13 cerebellar hypoplasia HP:0001321
14 hyperreflexia HP:0001347
15 intrauterine growth retardation HP:0001511
16 failure to thrive in infancy HP:0001531
17 rocker bottom foot HP:0001838
18 polymicrogyria HP:0002126
19 eeg abnormality HP:0002353
20 kyphoscoliosis HP:0002751
21 arthrogryposis multiplex congenita HP:0002804
22 hip dislocation HP:0002827
23 flared metaphysis HP:0003015
24 dislocated radial head HP:0003083
25 slender long bone HP:0003100
26 congenital onset HP:0003577
27 variable expressivity HP:0003828
28 short stature HP:0004322
29 premature closure of fontanelles HP:0005458
30 flexion contracture of toe HP:0005830
31 bilateral microphthalmos HP:0007633
32 cortical gyral simplification HP:0009879
33 camptodactyly of finger HP:0100490

Drugs & Therapeutics for Cerebrooculofacioskeletal Syndrome 4

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Cerebrooculofacioskeletal Syndrome 4

Genetic Tests for Cerebrooculofacioskeletal Syndrome 4

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Genetic tests related to Cerebrooculofacioskeletal Syndrome 4:

id Genetic test Affiliating Genes
1 Cerebrooculofacioskeletal Syndrome 422 ERCC1

Anatomical Context for Cerebrooculofacioskeletal Syndrome 4

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MalaCards organs/tissues related to Cerebrooculofacioskeletal Syndrome 4:

33
Bone, Eye

Animal Models for Cerebrooculofacioskeletal Syndrome 4 or affiliated genes

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Publications for Cerebrooculofacioskeletal Syndrome 4

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Variations for Cerebrooculofacioskeletal Syndrome 4

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

67
id Symbol AA change Variation ID SNP ID
1ERCC1p.Phe231LeuVAR_032776

Clinvar genetic disease variations for Cerebrooculofacioskeletal Syndrome 4:

5
id Gene Variation Type Significance SNP ID Assembly Location
1ERCC1NM_001983.3(ERCC1): c.472C> T (p.Gln158Ter)single nucleotide variantPathogenicrs121913027GRCh37Chr 19, 45922409: 45922409
2ERCC1NM_001983.3(ERCC1): c.693C> G (p.Phe231Leu)single nucleotide variantPathogenicrs121913028GRCh37Chr 19, 45918128: 45918128

Expression for genes affiliated with Cerebrooculofacioskeletal Syndrome 4

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

Pathways for genes affiliated with Cerebrooculofacioskeletal Syndrome 4

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GO Terms for genes affiliated with Cerebrooculofacioskeletal Syndrome 4

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Sources for Cerebrooculofacioskeletal Syndrome 4

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet