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LIS5
MCID: LSS025
MIFTS: 39
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Lissencephaly 5 (LIS5)
Categories:
Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Muscle diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Lissencephaly 5:
Characteristics:Inheritance:
Lissencephaly 5:
Autosomal recessive 57
Cobblestone Lissencephaly Without Muscular or Ocular Involvement:
Autosomal recessive 58
Prevelance:
Cobblestone Lissencephaly Without Muscular or Ocular Involvement:
<1/1000000 (Worldwide) 58
Age Of Onset:
Cobblestone Lissencephaly Without Muscular or Ocular Involvement:
Childhood,Infancy 58
OMIM®:57 (Updated 08-Dec-2022)
Miscellaneous:
variable severity progressive disorder onset in the first decade (range infancy to later childhood) episodic neurologic deterioration with stress six patients from 3 unrelated families have been reported (last curated april 2016) HPO:30Classifications:
MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases Anatomical: Neuronal diseases Eye diseases Muscle diseases Mental diseases
ICD10:
32
Orphanet: 58
Rare neurological diseases
Developmental anomalies during embryogenesis |
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Orphanet: 58 A rare, genetic, cobblestone lissencephaly disease characterized by the presence of a constellation of brain malformations, including cortical gyral and sulcus anomalies, white matter signal abnormalities, cerebellar dysplasia and brainstem hypoplasia, existing alone or in conjunction with minimal muscular and ocular abnormalities, typically manifesting with severe developmental delay, increased head circumference, hydrocephalus and seizures. MalaCards based summary: Lissencephaly 5, also known as cobblestone lissencephaly without muscular or ocular involvement, is related to proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome and walker-warburg syndrome, and has symptoms including seizures An important gene associated with Lissencephaly 5 is LAMB1 (Laminin Subunit Beta 1), and among its related pathways/superpathways are Guidance Cues and Growth Cone Motility and Signaling by Slit. Affiliated tissues include brain, cortex and eye, and related phenotypes are hydrocephalus and optic atrophy OMIM®: 57 Lissencephaly-5 (LIS5) is an autosomal recessive brain malformation characterized by cobblestone changes in the cortex, more severe in the posterior region, and subcortical band heterotopia. Affected individuals have hydrocephalus, seizures, and severely delayed psychomotor development (Radmanesh et al., 2013). For a general phenotypic description and a discussion of genetic heterogeneity of lissencephaly, see LIS1 (607432). (615191) (Updated 08-Dec-2022) Disease Ontology: 11 A lissencephaly characterized by hydrocephalus, seizures, severely delayed psychomotor development, and cobblestone changes in the cortex, more severe in the posterior region, and subcortical band heterotopia that has material basis in homozygous or compound heterozygous mutation in LAMB1 on chromosome 7q31.1. UniProtKB/Swiss-Prot: 73 An autosomal recessive brain malformation characterized by cobblestone changes in the cortex, more severe in the posterior region, and subcortical band heterotopia. Affected individuals have hydrocephalus, seizures, and severely delayed psychomotor development. |
Diseases in the Lissencephaly family:
Diseases related to Lissencephaly 5 via text searches within MalaCards or GeneCards Suite gene sharing:
Graphical network of the top 20 diseases related to Lissencephaly 5:
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Human phenotypes related to Lissencephaly 5:58 30 (show all 27)
Symptoms via clinical synopsis from OMIM®:57 (Updated 08-Dec-2022)Clinical features from OMIM®:615191 (Updated 08-Dec-2022)UMLS symptoms related to Lissencephaly 5:seizures |
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Organs/tissues related to Lissencephaly 5:
MalaCards :
Brain,
Cortex,
Eye
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Articles related to Lissencephaly 5:
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Genes related to Lissencephaly 5 (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Lissencephaly 5:5 (show all 20)
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Search
GEO
for disease gene expression data for Lissencephaly 5.
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Biological processes related to Lissencephaly 5 according to GeneCards Suite gene sharing:
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