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LIS10
MCID: LSS042
MIFTS: 18
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Lissencephaly 10 (LIS10)
Categories:
Fetal diseases, Genetic diseases, Mental diseases, Muscle diseases, Neuronal diseases, Rare diseases, Respiratory diseases
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MalaCards integrated aliases for Lissencephaly 10:
Name: Lissencephaly 10
56
6
Characteristics:OMIM:56
Inheritance:
autosomal dominant
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 Respiratory diseases Muscle diseases Mental diseases |
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OMIM :
56
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)
MalaCards based summary : Lissencephaly 10, is also known as lis10. An important gene associated with Lissencephaly 10 is CEP85L (Centrosomal Protein 85 Like). Affiliated tissues include brain. |
Diseases in the Lissencephaly family:
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Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:618873 |
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MalaCards organs/tissues related to Lissencephaly 10:40
Brain
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Articles related to Lissencephaly 10:
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Genes related to Lissencephaly 10 (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Lissencephaly 10:6
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Search
GEO
for disease gene expression data for Lissencephaly 10.
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