Preferred Label : Focal cortical dysplasia, type II;
Symbol : FCORD2;
CISMeF acronym : CDTBC; CDTD; CDT; FCD IIA; FCD IIB; FCDT; FCD2; FCORD2A; FCORD2B; FCORD2;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Cortical dysplasia of taylor; Focal cortical dysplasia of taylor; CDT; FCDT; FCD2;
Included titles and symbols : Focal cortical dysplasia, type iib; Focal cortical dysplasia, type iia; Cortical dysplasia of taylor without balloon cells; Cortical dysplasia of taylor, dysplasia only; Fcd iia; Fcd iib; Cortical dysplasia of taylor with balloon cells; FCORD2A; CDTD; FCORD2B; CDTBC;
Description : Cortical dysplasia of Taylor is a cerebral developmental malformation that results
in a clinical phenotype of intractable epilepsy usually requiring surgery. FCDT has
been classified histologically into 2 subtypes: a type without balloon cells, known
as type IIA, and a type with balloon cells, known as type IIB (Palmini et al., 2004).;
Inheritance : Somatic mutation;
Molecular basis : Caused by somatic mutation in the hamartin gene (TSC1, 605284.0010); Caused by somatic mutation in the TSC2 gene (TS2, 191092.0018); Caused by somatic mutation in the mechanistic target of rapamycin gene (MTOR, 601231.0003);
Prefixed ID : #607341;
Origin ID : 607341;
UMLS CUI : C1846385;
Automatic exact mappings (from CISMeF team)
- CISMeF manual mappings
- Currated CISMeF NLP mapping
- Genes related to phenotype
- HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
