LIS10
MCID: LSS042
MIFTS: 39
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Lissencephaly 10 (LIS10)
Categories:
Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Muscle diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Lissencephaly 10:Characteristics:Inheritance:
Autosomal dominant 57
OMIM®:57 (Updated 08-Dec-2022)
Miscellaneous:
variable severity de novo mutation (in some patients) onset of seizures in the first decade seizures are often intractable Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Neuronal diseases Eye diseases Muscle diseases Mental diseases |
OMIM®: 57 Lissencephaly-10 (LIS10) is a neurologic disorder characterized by variably delayed development with mildly to moderately impaired intellectual development and language delay, as well as seizures, which are often intractable. There is a spectrum of severity, with some patients having normal early development and only borderline to mild cognitive impairment. Brain imaging shows features consistent with neuronal migration defects, including posterior-predominant lissencephaly, pachygyria, agyria, and subcortical band heterotopia (summary by Tsai et al., 2020). For a general description and a discussion of genetic heterogeneity of lissencephaly, see LIS1 (607432). (618873) (Updated 08-Dec-2022) MalaCards based summary: Lissencephaly 10, also known as lis10, is related to lissencephaly, x-linked, 1 and chromosome 17p13.3, centromeric, duplication syndrome. An important gene associated with Lissencephaly 10 is CEP85L (Centrosomal Protein 85 Like), and among its related pathways/superpathways are Cytoskeletal Signaling and Neurogenesis regulation in the olfactory epithelium. Affiliated tissues include cortex and brain, and related phenotypes are intellectual disability and eeg abnormality UniProtKB/Swiss-Prot: 73 A form of lissencephaly, a disorder of cortical development characterized by agyria or pachygyria and disorganization of the clear neuronal lamination of normal six-layered cortex. LIS10 is an autosomal dominant form clinically characterized by variably delayed development, mildly to moderately impaired intellectual development, language delay, and seizures. Some patients have normal early development and borderline to mild cognitive impairment. Disease Ontology: 11 A lissencephaly characterized by variably delayed development, mildly to moderately impaired intellectual development and language delay, seizures, brain features consistent with neuronal migration defects that has material basis in heterozygous mutation in CEP85L on chromosome 6q22.31. |
Human phenotypes related to Lissencephaly 10:30 (show all 24)
Symptoms via clinical synopsis from OMIM®:57 (Updated 08-Dec-2022)Clinical features from OMIM®:618873 (Updated 08-Dec-2022) |
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Organs/tissues related to Lissencephaly 10:
MalaCards :
Cortex,
Brain
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Articles related to Lissencephaly 10:
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ClinVar genetic disease variations for Lissencephaly 10:5 (show all 14)
UniProtKB/Swiss-Prot genetic disease variations for Lissencephaly 10:73
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Search
GEO
for disease gene expression data for Lissencephaly 10.
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Cellular components related to Lissencephaly 10 according to GeneCards Suite gene sharing:
Biological processes related to Lissencephaly 10 according to GeneCards Suite gene sharing:(show all 12)
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