Cerebrooculofacioskeletal syndrome 1

Preferred Label : Cerebrooculofacioskeletal syndrome 1;

Symbol : COFS1;

CISMeF acronym : COFS; COFS1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : COFS; Pena-shokeir syndrome, type II; Cofs syndrome;

Description : Cerebrooculofacioskeletal syndrome is an autosomal recessive progressive neurodegenerative disorder characterized by microcephaly, congenital cataracts, severe mental retardation, facial dysmorphism, and arthrogryposis (summary by Jaakkola et al., 2010). - Genetic Heterogeneity of Cerebrooculofacioskeletal Syndrome See also COFS2 (610756), caused by mutation in the ERCC2 gene (126340);;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the excision repair cross complementing rodent repair deficiency, complementation group 6 gene (ERCC6, 133540.0007);

Laboratory abnormalities : Fibroblasts show hypersensitivity to UV irradiation due to defect in transcription-coupled nucleotide excision repair (TC-NER);

Prefixed ID : #214150;

Details

Origin ID

214150;

UMLS CUI

C0220722;

Automatic exact mappings (from CISMeF team)
- ERCC6 wt Allele [NCIt concept]
Broader ORDO disease(s)
- COFS syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Cerebro-oculo-facio-skeletal syndrome [ICD-11 More detail]
- Cerebro-oculo-facio-skeletal syndrome (disorder) [SNOMED CT concept]
- Cerebrooculofacioskeletal Syndrome [NCIt concept]
- Cerebrooculofacioskeletal Syndrome 1 [NCIt concept]
- Cerebrooculofacioskeletal syndrome [PASCAL descriptor]
- cerebro-oculo-facio-skeletal syndrome [SNOMED Notion]
- cerebrooculofacioskeletal syndrome [Disease (Nov.)]
- cerebrooculofacioskeletal syndrome 1 [MeSH concept]
- cerebrooculofacioskeletal syndrome 1 [MeSH Supplementary Concept]
DO Cross reference
- cerebrooculofacioskeletal syndrome 1 [DO Concept]
Genes related to phenotype
- Ercc excision repair 6, chromatin remodeling factor [OMIM gene]
HPO term(s)
- Abnormality of the ear [HPO term]
- Agenesis of corpus callosum [HPO term]
- Arthrogryposis multiplex congenita [HPO term]
- Autosomal recessive inheritance [HPO term]
- Blepharophimosis [HPO term]
- Camptodactyly [HPO term]
- Cataract [HPO term]
- Cerebellar hypoplasia [HPO term]
- Congenital vertical talus [HPO term]
- Coxa valga [HPO term]
- Death in childhood [HPO term]
- Deep longitudinal plantar crease [HPO term]
- Deeply set eye [HPO term]
- Delayed myelination [HPO term]
- Elbow flexion contracture [HPO term]
- Failure to thrive [HPO term]
- Generalized hypotonia [HPO term]
- Gliosis [HPO term]
- Hirsutism [HPO term]
- Hypotonia [HPO term]
- Infantile seizures [HPO term]
- Intellectual disability [HPO term]
- Intellectual disability, profound [HPO term]
- Joint contracture of the hand [HPO term]
- Knee contractures [HPO term]
- Knee flexion contracture [HPO term]
- Kyphoscoliosis [HPO term]
- Long philtrum [HPO term]
- Microcephaly [HPO term]
- Micrognathia [HPO term]
- Microphthalmia [HPO term]
- Nystagmus [HPO term]
- Osteoporosis [HPO term]
- Prominent nasal bridge [HPO term]
- Prominent nasal root [HPO term]
- Rocker bottom foot [HPO term]
- Second metatarsal posteriorly placed [HPO term]
- Seizure [HPO term]
- Sensorineural hearing impairment [HPO term]
- Sloping forehead [HPO term]
- Thin vermilion border [HPO term]
- Wide intermamillary distance [HPO term]
ORDO concept(s)
- COFS syndrome [ORDO Disease]
- Cockayne syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cerebro-oculo-facio-skeletal syndrome (disorder) [SNOMED CT concept]
- Cerebrooculofacioskeletal Syndrome [NCIt concept]
- Cerebrooculofacioskeletal Syndrome 1 [NCIt concept]
- Cerebrooculofacioskeletal syndrome [PASCAL descriptor]
- cerebro-oculo-facio-skeletal syndrome [SNOMED Notion]
- cerebrooculofacioskeletal syndrome [Disease (Nov.)]
- cerebrooculofacioskeletal syndrome 1 [MeSH Supplementary Concept]
- cerebrooculofacioskeletal syndrome 1 [MeSH concept]
Validated automatic mappings to NTBT
- COFS syndrome [ORDO Disease]

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