Lissencephaly, X-linked, 1

Preferred Label : Lissencephaly, X-linked, 1;

Symbol : LISX1;

CISMeF acronym : LISX1; SBH; SCLH; XLIS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Lissencephaly and agenesis of corpus callosum; XLIS;

Included titles and symbols : Subcortical laminar heterotopia, X-linked; Subcortical band heterotopia, X-linked; Double cortex syndrome; Dc syndrome; SCLH; SBH;

Description : Lissencephaly ('smooth brain') results from migrational arrest of cortical neurons short of their normal destination, and can result in profound mental retardation and seizures. In X-linked lissencephaly-1, affected males generally have more a severe phenotype compared to females. DCX mutations cause classic lissencephaly with mental retardation in hemizygous males and a milder phenotype known as subcortical band heterotopia in females, sometimes in the same family. The subcortical lamina heterotopia found in heterozygous females is also referred to as 'double cortex' (DC) syndrome (des Portes et al., 1997). There are several X-linked loci that affect neuronal migration, including the Aicardi locus (304050).;

Inheritance : X-linked;

Molecular basis : Caused by mutation in the doublecortin gene (DCX, 300121.0001);

Prefixed ID : #300067;

Details

Origin ID

300067;

UMLS CUI

C4551968;

Automatic exact mappings (from CISMeF team)
- DCX wt Allele [NCIt concept]
- Double Cortex Syndrome [NCIt concept]
- Double cortex syndrome [MedDRA Preferred Term]
- Lissencephaly and agenesis of corpus callosum [MeSH concept]
- Subcortical band heterotopia [ORDO Disease]
- classical lissencephalies and subcortical band heterotopias [MeSH Descriptor]
- doublecortin [ORDO Gene]
- lissencephaly and agenesis of corpus callosum [MeSH Supplementary Concept]
- subcortical band heterotopia [DO Concept]
- subcortical band heterotopia, X-Linked [MeSH Supplementary Concept]
- subcortical band heterotopia, X-Linked [MeSH concept]
Currated CISMeF NLP mapping
- Lissencephaly type 1 due to doublecortin gene mutation [ORDO Disease]
- Lissencephaly type 1 due to doublecortin gene mutation (disorder) [SNOMED CT concept]
DO Cross reference
- lissencephaly [DO Concept]
Genes related to phenotype
- Doublecortin [OMIM gene]
HPO term(s)
- Agenesis of corpus callosum [HPO term]
- Agyria [HPO term]
- Ataxia [HPO term]
- Death in infancy [HPO term]
- Dysarthria [HPO term]
- Gray matter heterotopia [HPO term]
- Growth failure [HPO term]
- Incomplete penetrance [HPO term]
- Infantile onset [HPO term]
- Intellectual disability [HPO term]
- Intractable seizures [HPO term]
- Lissencephaly [HPO term]
- Micropenis [HPO term]
- Motor delay [HPO term]
- Nystagmus [HPO term]
- Pachygyria [HPO term]
- Postnatal growth retardation [HPO term]
- Seizure [HPO term]
- Spasticity [HPO term]
- X-linked inheritance [HPO term]
ORDO concept(s)
- Lissencephaly type 1 due to doublecortin gene mutation [ORDO Disease]
- Subcortical band heterotopia [ORDO Disease]
See also inter- (CISMeF)
- double cortex syndrome [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Lissencephaly type 1 due to doublecortin gene mutation [ORDO Disease]
- X-Linked lissencephaly [MeSH concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients