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MCID: LSS025
MIFTS: 24
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Lissencephaly 5
Categories:
Genetic diseases, Neuronal diseases, Fetal diseases, Rare diseases, Muscle diseases, Cardiovascular diseases, Skin diseases
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MalaCards integrated aliases for Lissencephaly 5:
Characteristics:Orphanet epidemiological data:59
cobblestone lissencephaly without muscular or ocular involvement
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; OMIM:57
Inheritance:
autosomal recessive
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:32
lissencephaly 5:
Onset and clinical course variable expressivity progressive Inheritance autosomal recessive inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases Anatomical: Neuronal diseases Muscle diseases Cardiovascular diseases Skin diseases
ICD10:
34
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OMIM
:
57
Lissencephaly-5 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 (summary by Radmanesh et al., 2013).
For a general phenotypic description and a discussion of genetic heterogeneity of lissencephaly, see LIS1 (607432). (615191)
MalaCards based summary : Lissencephaly 5, is also known as lis5, and has symptoms including seizures An important gene associated with Lissencephaly 5 is LAMB1 (Laminin Subunit Beta 1). Affiliated tissues include brain, cortex and eye, and related phenotypes are hydrocephalus and macrocephaly UniProtKB/Swiss-Prot : 75 Lissencephaly 5: 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:
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:615191Human phenotypes related to Lissencephaly 5:32 (show all 18)
UMLS symptoms related to Lissencephaly 5:seizures |
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MalaCards organs/tissues related to Lissencephaly 5:41
Brain,
Cortex,
Eye
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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 5:6
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Search
GEO
for disease gene expression data for Lissencephaly 5.
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