MCID: CRB100
MIFTS: 22

Cerebrooculofacioskeletal Syndrome 4 malady

Categories: Genetic diseases (common), Bone diseases

Aliases & Classifications for Cerebrooculofacioskeletal Syndrome 4

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Aliases & Descriptions for Cerebrooculofacioskeletal Syndrome 4:

Name: Cerebrooculofacioskeletal Syndrome 4 51 24 26 12 67
Cerebro-Oculo-Facio-Skeletal Syndrome 4 69
 
Cofs Syndrome 69
Cofs4 69

Characteristics:

HPO:

63
cerebrooculofacioskeletal syndrome 4:
Inheritance: autosomal recessive inheritance
Onset and clinical course: congenital onset, variable expressivity

Classifications:



External Ids:

OMIM51 610758
MedGen36 C1853100

Summaries for Cerebrooculofacioskeletal Syndrome 4

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OMIM:51 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 cerebrooculofacioskeletal syndrome 1 and cerebrooculofacioskeletal syndrome 2, and has symptoms including microcephaly, short philtrum and micrognathia. 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:69 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 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:

idRelated DiseaseScoreTop Affiliating Genes
1cerebrooculofacioskeletal syndrome 111.0
2cerebrooculofacioskeletal syndrome 210.8
3cerebro-oculo-facio-skeletal syndrome10.8

Symptoms for Cerebrooculofacioskeletal Syndrome 4

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Symptoms by clinical synopsis from OMIM:

610758

Clinical features from OMIM:

610758

Human phenotypes related to Cerebrooculofacioskeletal Syndrome 4:

 63 (show all 30)
id Description HPO Frequency HPO Source Accession
1 microcephaly63 HP:0000252
2 short philtrum63 HP:0000322
3 micrognathia63 HP:0000347
4 low-set, posteriorly rotated ears63 HP:0000368
5 prominent nasal bridge63 HP:0000426
6 deeply set eye63 HP:0000490
7 blepharophimosis63 HP:0000581
8 nystagmus63 HP:0000639
9 adducted thumb63 HP:0001181
10 global developmental delay63 HP:0001263
11 hypertonia63 HP:0001276
12 cerebellar hypoplasia63 HP:0001321
13 hyperreflexia63 HP:0001347
14 intrauterine growth retardation63 HP:0001511
15 failure to thrive in infancy63 HP:0001531
16 rocker bottom foot63 HP:0001838
17 polymicrogyria63 HP:0002126
18 eeg abnormality63 HP:0002353
19 kyphoscoliosis63 HP:0002751
20 arthrogryposis multiplex congenita63 HP:0002804
21 hip dislocation63 HP:0002827
22 flared metaphysis63 HP:0003015
23 dislocated radial head63 HP:0003083
24 slender long bone63 HP:0003100
25 short stature63 HP:0004322
26 premature closure of fontanelles63 HP:0005458
27 flexion contracture of toe63 HP:0005830
28 bilateral microphthalmos63 HP:0007633
29 cortical gyral simplification63 HP:0009879
30 camptodactyly of finger63 HP:0100490

UMLS symptoms related to Cerebrooculofacioskeletal Syndrome 4:


stiff limbs

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 426 24 ERCC1

Anatomical Context for Cerebrooculofacioskeletal Syndrome 4

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MalaCards organs/tissues related to Cerebrooculofacioskeletal Syndrome 4:

35
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:

69
id Symbol AA change Variation ID SNP ID
1ERCC1p.Phe231LeuVAR_032776rs121913028

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)SNVPathogenicrs121913027GRCh37Chr 19, 45922409: 45922409
2ERCC1NM_202001.2(ERCC1): c.693C> G (p.Phe231Leu)SNVPathogenicrs121913028GRCh37Chr 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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet