LIS7
MCID: LSS030
MIFTS: 36
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Lissencephaly 7 with Cerebellar Hypoplasia (LIS7)
Categories:
Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Lissencephaly 7 with Cerebellar Hypoplasia:
Characteristics:Inheritance:
Autosomal recessive 57
OMIM®:57 (Updated 08-Dec-2022)
Miscellaneous:
onset at birth death in first days or months of life one large consanguineous kindred of israeli muslim descent has been reported (last curated may 2015) Classifications:
MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases Anatomical: Neuronal diseases |
OMIM®: 57 Lissencephaly-7 with cerebellar hypoplasia (LIS7) is a severe neurodevelopmental disorder characterized by lack of psychomotor development, facial dysmorphism, arthrogryposis, and early-onset intractable seizures resulting in death in infancy (Magen et al., 2015). For a general description and a discussion of genetic heterogeneity of lissencephaly, see LIS1 (607432). (616342) (Updated 08-Dec-2022) MalaCards based summary: Lissencephaly 7 with Cerebellar Hypoplasia, also known as lis7, is related to hypomelanosis of ito and lissencephaly 3. An important gene associated with Lissencephaly 7 with Cerebellar Hypoplasia is CDK5 (Cyclin Dependent Kinase 5), and among its related pathways/superpathways are Neuroscience and COPI-independent Golgi-to-ER retrograde traffic. Affiliated tissues include cortex, skeletal muscle and brain, and related phenotypes are seizure and agenesis of corpus callosum 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. LIS7 patients manifest lack of psychomotor development, facial dysmorphism, arthrogryposis, and early-onset intractable seizures resulting in death in infancy. Disease Ontology: 11 A lissencephaly characterized by lack of psychomotor development, facial dysmorphism, arthrogryposis, and early-onset intractable seizures resulting in death in infancy that has material basis in homozygous or compound heterozygous mutation in CDK5 on chromosome 7q36.1. |
Human phenotypes related to Lissencephaly 7 with Cerebellar Hypoplasia:30 (show all 19)
Symptoms via clinical synopsis from OMIM®:57 (Updated 08-Dec-2022)Clinical features from OMIM®:616342 (Updated 08-Dec-2022) |
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Organs/tissues related to Lissencephaly 7 with Cerebellar Hypoplasia:
MalaCards :
Cortex,
Skeletal Muscle,
Brain
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Articles related to Lissencephaly 7 with Cerebellar Hypoplasia:
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ClinVar genetic disease variations for Lissencephaly 7 with Cerebellar Hypoplasia:5
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Search
GEO
for disease gene expression data for Lissencephaly 7 with Cerebellar Hypoplasia.
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Pathways related to Lissencephaly 7 with Cerebellar Hypoplasia according to GeneCards Suite gene sharing:
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Cellular components related to Lissencephaly 7 with Cerebellar Hypoplasia according to GeneCards Suite gene sharing:
Biological processes related to Lissencephaly 7 with Cerebellar Hypoplasia according to GeneCards Suite gene sharing:(show all 15)
Molecular functions related to Lissencephaly 7 with Cerebellar Hypoplasia according to GeneCards Suite gene sharing:
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