Cerebrooculofacioskeletal Syndrome

Preferred Label : Cerebrooculofacioskeletal Syndrome;

NCIt synonyms : Cerebro-Oculo-Facio-Skeletal Syndrome;

NCIt definition : A rare degenerative genetic disorder with an autosomal recessive pattern of inheritance that primarily affects the central nervous system. It is caused in some cases by mutations in the Cockayne syndrome group B gene, CSB/ERCC6, or the xeroderma pigmentosum genes: XPD/ERCC2, XPG/ERCC5, XPF/ERCC1, which are all involved in the transcription-coupled nucleotide excision repair pathway of DNA repair. It is currently thought to be part of the spectrum of disorders within Cockayne syndrome. Clinical signs at birth include microcephaly, hypotonia, abnormal reflexes and involuntary eye movements. The clinical prognosis is fatal with survivability beyond 5 years unlikely.;

Details

Origin ID

C3817;

UMLS CUI

C5399761;

Currated CISMeF NLP mapping
- COFS syndrome [ORDO Disease]
- Cerebro-oculo-facio-skeletal syndrome [ICD-11 More detail]
- Cerebro-oculo-facio-skeletal syndrome (disorder) [SNOMED CT concept]
- Cerebrooculofacioskeletal syndrome [PASCAL descriptor]
- Cerebrooculofacioskeletal syndrome [OMIM phenotypic series]
- Cerebrooculofacioskeletal syndrome 1 [OMIM Phenotype]
- cerebro-oculo-facio-skeletal syndrome [SNOMED Notion]
- cerebrooculofacioskeletal syndrome [Disease (Nov.)]
- cerebrooculofacioskeletal syndrome [DO Concept]
- cerebrooculofacioskeletal syndrome 1 [MeSH Supplementary Concept]
- cerebrooculofacioskeletal syndrome 1 [MeSH concept]
See also inter- (CISMeF)
- Pena Shokeir syndrome Type 2 [MeSH concept]
- pena shokeir syndrome type 2 [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cerebro-oculo-facio-skeletal syndrome (disorder) [SNOMED CT concept]
- Cerebrooculofacioskeletal syndrome [PASCAL descriptor]
- Cerebrooculofacioskeletal syndrome 1 [OMIM Phenotype]
- cerebro-oculo-facio-skeletal syndrome [SNOMED Notion]
- cerebrooculofacioskeletal syndrome [Disease (Nov.)]
- cerebrooculofacioskeletal syndrome 1 [MeSH Supplementary Concept]
- cerebrooculofacioskeletal syndrome 1 [MeSH concept]
associated_with_malfunction_of_gene_product
- DNA Repair Protein Complementing XP-G Cells [NCIt concept]
- General Transcription and DNA Repair Factor IIH Helicase Subunit XPD [NCIt concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_associated_gene
- ERCC2 Gene [NCIt concept]
- ERCC2 wt Allele [NCIt concept]
- ERCC5 Gene [NCIt concept]
- ERCC5 wt Allele [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]

Keyword's position in hierarchy(ies) :

Main resources

You can consult :

recommendations
documents concerning education
documents for patients