LISX1
MCID: LSS036
MIFTS: 48
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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:Inheritance:
Lissencephaly, X-Linked, 1:
X-linked 57
Lissencephaly Type 1 Due to Doublecortin Gene Mutation:
X-linked recessive 58
Age Of Onset:
Lissencephaly Type 1 Due to Doublecortin Gene Mutation:
Adolescent,Childhood,Infancy,Neonatal 58
OMIM®:57 (Updated 08-Dec-2022)
Miscellaneous:
onset in infancy incomplete penetrance highly variable phenotype in females somatic or germline mosaicism may occur Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Neuronal diseases Endocrine diseases Reproductive diseases Mental diseases
ICD10:
32
Orphanet: 58
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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) (Updated 08-Dec-2022) MalaCards based summary: Lissencephaly, X-Linked, 1, also known as lissencephaly type 1 due to doublecortin gene mutation, is related to lissencephaly, x-linked, 2 and lissencephaly 1, and has symptoms including ataxia and seizures. An important gene associated with Lissencephaly, X-Linked, 1 is DCX (Doublecortin), and among its related pathways/superpathways is Lissencephaly gene (LIS1) in neuronal migration and development. Affiliated tissues include cortex, brain and caudate nucleus, and related phenotypes are cognitive impairment and language impairment UniProtKB/Swiss-Prot 73 Lissencephaly, x-linked 1: A classic lissencephaly characterized by intellectual disability 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. Orphanet: 58 Type 1 lissencephaly due to doublecortin (DCX) gene mutations is a semi-dominant X-linked disease characterised by intellectual deficiency and seizures that are more severe in male patients. Disease Ontology: 11 A lissencephaly characterized by classic lissencephaly and intellectual disability in males that has material basis in mutation in DCX on chromosome Xq23. |
Human phenotypes related to Lissencephaly, X-Linked, 1:58 30 (show all 45)
Clinical features from OMIM®:300067 (Updated 08-Dec-2022)UMLS symptoms related to Lissencephaly, X-Linked, 1:ataxia; seizures |
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Organs/tissues related to Lissencephaly, X-Linked, 1:
MalaCards :
Cortex,
Brain,
Caudate Nucleus,
Globus Pallidus,
Temporal Lobe,
Bone,
Fetal Brain
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Articles related to Lissencephaly, X-Linked, 1:(show top 50) (show all 261)
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ClinVar genetic disease variations for Lissencephaly, X-Linked, 1:5 (show all 33)
UniProtKB/Swiss-Prot genetic disease variations for Lissencephaly, X-Linked, 1:73 (show all 42)
Copy number variations for Lissencephaly, X-Linked, 1 from CNVD:6
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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:
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