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MCID: CRB099
MIFTS: 27
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Cerebrooculofacioskeletal Syndrome 3
Categories:
Genetic diseases, Bone diseases
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MalaCards integrated aliases for Cerebrooculofacioskeletal Syndrome 3:
Characteristics:OMIM:57
Inheritance:
autosomal recessive
Miscellaneous:
early death one consanguineous pakistani family and 1 unrelated patient have been reported (last curated september 2015) HPO:32Classifications: |
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OMIM
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57
Cerebrooculofacioskeletal syndrome is a severe, progressive neurologic disorder characterized by prenatal onset of arthrogryposis, microcephaly, and growth failure. Postnatal features include severe developmental delay, congenital cataracts (in some), and marked UV sensitivity of the skin. Survival beyond 6 years of age is rare. COFS represents the severe end of the spectrum of disorders caused by mutations in nucleotide excision repair (NER) genes, with Cockayne syndrome and xeroderma pigmentosum being milder NER-related phenotypes (summary by Drury et al., 2014).
For a phenotypic description and a discussion of genetic heterogeneity of cerebrooculofacioskeletal syndrome, see COFS1 (214150). (616570)
MalaCards based summary : Cerebrooculofacioskeletal Syndrome 3, also known as cofs3, is related to pectus excavatum, and has symptoms including edema An important gene associated with Cerebrooculofacioskeletal Syndrome 3 is ERCC5 (ERCC Excision Repair 5, Endonuclease), and among its related pathways/superpathways is Nucleotide excision repair. Affiliated tissues include skin and brain, and related phenotypes are cleft palate and microcephaly UniProtKB/Swiss-Prot : 75 Cerebro-oculo-facio-skeletal syndrome 3: 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. Wikipedia : 76 Xeroderma pigmentosum (XP) is a genetic disorder in which there is a decreased ability to repair DNA... more... |
Diseases in the Cerebrooculofacioskeletal Syndrome 1 family:
Diseases related to Cerebrooculofacioskeletal Syndrome 3 via text searches within MalaCards or GeneCards Suite gene sharing:
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:616570Human phenotypes related to Cerebrooculofacioskeletal Syndrome 3:32 (show all 13)
UMLS symptoms related to Cerebrooculofacioskeletal Syndrome 3:edema |
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MalaCards organs/tissues related to Cerebrooculofacioskeletal Syndrome 3:41
Skin,
Brain
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Genes related to Cerebrooculofacioskeletal Syndrome 3 (1 elite genes):
- Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Cerebrooculofacioskeletal Syndrome 3:6
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Search
GEO
for disease gene expression data for Cerebrooculofacioskeletal Syndrome 3.
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Pathways related to Cerebrooculofacioskeletal Syndrome 3 according to GeneCards Suite gene sharing:
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Biological processes related to Cerebrooculofacioskeletal Syndrome 3 according to GeneCards Suite gene sharing:
Molecular functions related to Cerebrooculofacioskeletal Syndrome 3 according to GeneCards Suite gene sharing:
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