LISX1
MCID: LSS036
MIFTS: 47
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Lissencephaly, X-Linked, 1 (LISX1)
Categories:
Endocrine diseases, Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases, Reproductive diseases
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MalaCards integrated aliases for Lissencephaly, X-Linked, 1:
Name: Lissencephaly, X-Linked, 1
57
Characteristics:Orphanet epidemiological data:59
lissencephaly type 1 due to doublecortin gene mutation
Inheritance: X-linked recessive; Age of onset: Adolescent,Childhood,Infancy,Neonatal; OMIM:57
Miscellaneous:
onset in infancy incomplete penetrance highly variable phenotype in females somatic or germline mosaicism may occur
Inheritance:
x-linked HPO:32
lissencephaly, x-linked, 1:
Mortality/Aging death in infancy Onset and clinical course incomplete penetrance infantile onset Inheritance x-linked inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Neuronal diseases Endocrine diseases Mental diseases Reproductive diseases
ICD10:
34
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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. |
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:300067Human phenotypes related to Lissencephaly, X-Linked, 1:59 32 (show all 18)
UMLS symptoms related to Lissencephaly, X-Linked, 1:seizures, ataxia |
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MalaCards organs/tissues related to Lissencephaly, X-Linked, 1:41
Cortex,
Brain,
Fetal Brain,
Thyroid,
Thalamus,
Testes,
Hypothalamus
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Articles related to Lissencephaly, X-Linked, 1:(show all 23)
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UniProtKB/Swiss-Prot genetic disease variations for Lissencephaly, X-Linked, 1:75 (show all 42)
ClinVar genetic disease variations for Lissencephaly, X-Linked, 1:6 (show all 48)
Copy number variations for Lissencephaly, X-Linked, 1 from CNVD:7
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Search
GEO
for disease gene expression data for Lissencephaly, X-Linked, 1.
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Cellular components related to Lissencephaly, X-Linked, 1 according to GeneCards Suite gene sharing:
Biological processes related to Lissencephaly, X-Linked, 1 according to GeneCards Suite gene sharing:
Molecular functions related to Lissencephaly, X-Linked, 1 according to GeneCards Suite gene sharing:
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