Lissencephaly, X-Linked, 1 (LISX1)

External Ids:

OMIM 57 300067 Orphanet 59 ORPHA2148 UMLS via Orphanet 74 C1848199 ICD10 via Orphanet 34 Q04.3

MedGen 42 C1848199 C1848070 C1848200 MeSH 44 D054082 D054221 SNOMED-CT via HPO 69 34911001 563001 228156007 247578003 91138005 128613002 246545002 313307000 84757009 91175000 85102008 398151007 398152000 221360009 397790002 8011004 5102002 41581000 56731001 23024003 263934009 128490007 416286003 417338002 40700009 78164000 more UMLS 73 C1848199 C2931857 C1848201

Genetics Home Reference : ²⁵ Subcortical band heterotopia is a condition in which nerve cells (neurons) do not move (migrate) to their proper locations in the fetal brain during early development. (Heterotopia means "out of place.") Normally, the neurons that make up the outer surface of the brain (cerebral cortex) are distributed in a well-organized and multi-layered way. In people with subcortical band heterotopia, some neurons that should be part of the cerebral cortex do not reach it. These neurons stop their migration process in areas of the brain where they are not supposed to be and form band-like clusters of tissue. Since these bands are located beneath the cerebral cortex, they are said to be subcortical. In most cases, the bands are symmetric, which means they occur in the same places on the right and left sides of the brain.

MalaCards based summary : Lissencephaly, X-Linked, 1, also known as lissencephaly, x-linked, is related to lissencephaly 1 and band heterotopia, and has symptoms including seizures and ataxia. An important gene associated with Lissencephaly, X-Linked, 1 is DCX (Doublecortin), and among its related pathways/superpathways are Neuroscience and Cytoskeletal Signaling. Affiliated tissues include cortex, brain and fetal brain, and related phenotypes are seizures and muscular hypotonia

OMIM : ⁵⁷ 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). (300067)

UniProtKB/Swiss-Prot : ⁷⁵ Lissencephaly, X-linked 1: A classic lissencephaly characterized by mental retardation and seizures that are more severe in male patients. Affected boys show an abnormally thick cortex with absent or severely reduced gyri. Clinical manifestations include feeding problems, abnormal muscular tone, seizures and severe to profound psychomotor retardation. Female patients display a less severe phenotype referred to as 'doublecortex'. Subcortical band heterotopia X-linked: SBHX is a mild brain malformation of the lissencephaly spectrum. It is characterized by bilateral and symmetric plates or bands of gray matter found in the central white matter between the cortex and cerebral ventricles, cerebral convolutions usually appearing normal.

Clinical features from OMIM:

300067

Search Clinical Trials , NIH Clinical Center for Lissencephaly, X-Linked, 1

Search GEO for disease gene expression data for Lissencephaly, X-Linked, 1.