Cortical dysplasia, complex, with other brain malformations 1

Preferred Label : Cortical dysplasia, complex, with other brain malformations 1;

Symbol : CDCBM1;

CISMeF acronym : CDCBM1;

Type : Phenotype, molecular basis known;

Description : Complex cortical dysplasia with other brain malformations (CDCBM) is a disorder of aberrant neuronal migration and disturbed axonal guidance. Affected individuals have mild to severe mental retardation, strabismus, axial hypotonia, and spasticity. Brain imaging shows variable malformations of cortical development, including polymicrogyria, gyral disorganization, and fusion of the basal ganglia, as well as thin corpus callosum, hypoplastic brainstem, and dysplastic cerebellar vermis. Extraocular muscles are not involved (summary by Poirier et al., 2010). Mutation in the TUBB3 gene can also cause congenital fibrosis of extraocular muscles-3A (CFEOM3A; 600638), a milder and somewhat different neurologic phenotype. - Genetic Heterogeneity of Complex Cortical Dysplasia With Other Brain Malformations See also CDCBM2 (615282), caused by mutation in the KIF5C gene (604593) on chromosome 2q23; CDCBM3 (615411), caused by mutation in the KIF2A gene (602591) on chromosome 5q12; and CDCBM4 (615412), caused by mutation in the TUBG1 gene (191135) on chromosome 17q21.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the beta-3 tubulin gene (TUBB3, 602661.0006);

Prefixed ID : #614039;

Details

Origin ID

614039;

UMLS CUI

C3808397;

Currated CISMeF NLP mapping
- Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation [ORDO Disease]
- Cortical dysgenesis with pontocerebellar hypoplasia due to tubulin beta 3 class III mutation (disorder) [SNOMED CT concept]
- complex cortical dysplasia with other brain malformations 1 [DO Concept]
DO Cross reference
- complex cortical dysplasia with other brain malformations 1 [DO Concept]
Genes related to phenotype
- Tubulin, beta-3 [OMIM gene]
HPO term(s)
- Agenesis of corpus callosum [HPO term]
- Autosomal dominant inheritance [HPO term]
- Congenital onset [HPO term]
- Cortical dysplasia [HPO term]
- Delayed speech and language development [HPO term]
- Frontal polymicrogyria [HPO term]
- Global developmental delay [HPO term]
- Hypoplasia of the brainstem [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Intellectual disability [HPO term]
- Lissencephaly [HPO term]
- Microcephaly [HPO term]
- Nystagmus [HPO term]
- Seizure [HPO term]
- Simplified gyral pattern [HPO term]
- Spasticity [HPO term]
- Strabismus [HPO term]
- Thin corpus callosum [HPO term]
ORDO concept(s)
- Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation [ORDO Disease]
See also inter- (CISMeF)
- TUBB3 wt Allele [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- complex cortical dysplasia with other brain malformations 1 [DO Concept]

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