MCID: CRB100

Cerebrooculofacioskeletal Syndrome 4 malady

Genetic diseases (common) category
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Summaries for Cerebrooculofacioskeletal Syndrome 4

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Wikipedia:65 Cockayne syndrome (also called Weber-Cockayne syndrome, or Neill-Dingwall syndrome) is a rare autosomal... more...

MalaCards based summary: Cerebrooculofacioskeletal Syndrome 4 and has symptoms including An important gene associated with Cerebrooculofacioskeletal Syndrome 4 is ERCC1 (excision repair cross-complementation group 1). Affiliated tissues include eye.

Description from OMIM:46 610758

Aliases & Classifications for Cerebrooculofacioskeletal Syndrome 4

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Cerebrooculofacioskeletal Syndrome 4, Aliases & Descriptions:

Name: Cerebrooculofacioskeletal Syndrome 4 46 62


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


Related Diseases for Cerebrooculofacioskeletal Syndrome 4

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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 metaphyses 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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Drug clinical trials:

Search ClinicalTrials for Cerebrooculofacioskeletal Syndrome 4

Search NIH Clinical Center for Cerebrooculofacioskeletal Syndrome 4

Genetic Tests for Cerebrooculofacioskeletal Syndrome 4

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Anatomical Context for Cerebrooculofacioskeletal Syndrome 4

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MalaCards organs/tissues related to Cerebrooculofacioskeletal Syndrome 4:

32
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:

64
id Symbol AA change Variation ID SNP ID
1ERCC1p.Phe231LeuVAR_032776

Clinvar genetic disease variations for Cerebrooculofacioskeletal Syndrome 4:

6
id Gene Name 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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Expression patterns in normal tissues for genes affiliated with Cerebrooculofacioskeletal Syndrome 4

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Pathways for genes affiliated with Cerebrooculofacioskeletal Syndrome 4

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Compounds for genes affiliated with Cerebrooculofacioskeletal Syndrome 4

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GO Terms for genes affiliated with Cerebrooculofacioskeletal Syndrome 4

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Products for genes affiliated with Cerebrooculofacioskeletal Syndrome 4

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  • Antibodies
  • Proteins
  • Lysates

Sources for Cerebrooculofacioskeletal Syndrome 4

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet