Lissencephaly 5 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Lissencephaly 5

MalaCards integrated aliases for Lissencephaly 5:

Name: Lissencephaly 5 ⁵⁷ ⁷⁵ ²⁹ ¹³ ⁶ ⁷³

Lis5 ⁵⁷ ⁷⁵

Cobblestone Lissencephaly Without Muscular or Ocular Involvement ⁵⁹

Cobblestone Lissencephaly Without Muscular or Eye Involvement ⁵⁹

Lissencephaly Type 2 Without Muscular or Ocular Involvement ⁵⁹

Lissencephaly Type 2 Without Muscular or Eye Involvement ⁵⁹

Lissencephaly, Type 5 ⁴⁰

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 Skin diseases Cardiovascular diseases Muscle diseases Mental diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations of the nervous system

Other congenital malformations of brain

Other reduction deformities of brain

Orphanet: ⁵⁹

Rare neurological diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM ⁵⁷ 615191

Orphanet ⁵⁹ ORPHA352682

ICD10 via Orphanet ³⁴ Q04.3

MedGen ⁴² C3554657 CN169267

MeSH ⁴⁴ D054082

UMLS ⁷³ C3554657

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Summaries for Lissencephaly 5

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, eye and cortex, and related phenotypes are macrocephaly and hydrocephalus

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.

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Related Diseases for Lissencephaly 5

Diseases in the Lissencephaly family:

Lissencephaly 2	Lissencephaly 1
Lissencephaly 3	Lissencephaly 4
Lissencephaly 5	Lissencephaly 8

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Symptoms & Phenotypes for Lissencephaly 5

Symptoms via clinical synopsis from OMIM:

⁵⁷

Neurologic Central Nervous System:
hydrocephalus
seizures
cerebellar hypoplasia
spastic paraplegia
porencephaly
more

Head And Neck Ears:
deafness (in some patients)

Head And Neck Eyes:
optic atrophy (in some patients)
lens opacities (in some patients)

Head And Neck Head:
macrocephaly due to hydrocephalus

Clinical features from OMIM:

615191

Human phenotypes related to Lissencephaly 5:

³² (show all 18)

#	Description	HPO Frequency	HPO Source Accession
1	macrocephaly ³²		HP:0000256
2	hydrocephalus ³²		HP:0000238
3	intellectual disability ³²		HP:0001249
4	seizures ³²		HP:0001250
5	hearing impairment ³²	occasional (7.5%)	HP:0000365
6	cataract ³²	occasional (7.5%)	HP:0000518
7	optic atrophy ³²	occasional (7.5%)	HP:0000648
8	severe global developmental delay ³²		HP:0011344
9	cerebellar hypoplasia ³²		HP:0001321
10	spastic paraplegia ³²		HP:0001258
11	generalized hypotonia ³²		HP:0001290
12	occipital encephalocele ³²		HP:0002085
13	abnormality of the cerebral white matter ³²		HP:0002500
14	type ii lissencephaly ³²		HP:0007260
15	leukoencephalopathy ³²		HP:0002352
16	hypoplasia of the brainstem ³²		HP:0002365
17	porencephalic cyst ³²		HP:0002132
18	gray matter heterotopias ³²		HP:0002281

UMLS symptoms related to Lissencephaly 5:

seizures

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Drugs & Therapeutics for Lissencephaly 5

Search Clinical Trials , NIH Clinical Center for Lissencephaly 5

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Genetic Tests for Lissencephaly 5

Genetic tests related to Lissencephaly 5:

#	Genetic test	Affiliating Genes
1	Lissencephaly 5 ²⁹	LAMB1

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Anatomical Context for Lissencephaly 5

MalaCards organs/tissues related to Lissencephaly 5:

⁴¹

Brain, Eye, Cortex, Skin

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Publications for Lissencephaly 5

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Genes for Lissencephaly 5

Genes related to Lissencephaly 5 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	LAMB1	Laminin Subunit Beta 1	Protein Coding	1376.95	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	23472759 25925986

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Variations for Lissencephaly 5

ClinVar genetic disease variations for Lissencephaly 5:

⁶ (show all 18)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	LAMB1	NM_002291.2(LAMB1)	indel	Pathogenic	rs387907343	GRCh37	Chromosome 7, 107592590: 107592603
2	LAMB1	NM_002291.2(LAMB1)	indel	Pathogenic	rs387907343	GRCh38	Chromosome 7, 107952145: 107952158
3	LAMB1	NM_002291.2(LAMB1): c.2109+1G> T	single nucleotide variant	Pathogenic	rs387907344	GRCh37	Chromosome 7, 107601650: 107601650
4	LAMB1	NM_002291.2(LAMB1): c.2109+1G> T	single nucleotide variant	Pathogenic	rs387907344	GRCh38	Chromosome 7, 107961205: 107961205
5	LAMB1	NM_002291.2(LAMB1): c.2931delG (p.Gln977Hisfs)	deletion	Pathogenic	rs879255266	GRCh38	Chromosome 7, 107953678: 107953678
6	LAMB1	NM_002291.2(LAMB1): c.2931delG (p.Gln977Hisfs)	deletion	Pathogenic	rs879255266	GRCh37	Chromosome 7, 107594123: 107594123
7	LAMB1	NM_002291.2(LAMB1): c.1442G> T (p.Cys481Phe)	single nucleotide variant	Pathogenic	rs879255267	GRCh38	Chromosome 7, 107975026: 107975026
8	LAMB1	NM_002291.2(LAMB1): c.1442G> T (p.Cys481Phe)	single nucleotide variant	Pathogenic	rs879255267	GRCh37	Chromosome 7, 107615471: 107615471
9	LAMB1	NM_002291.2(LAMB1): c.4562T> G (p.Ile1521Ser)	single nucleotide variant	Uncertain significance	rs199646967	GRCh38	Chromosome 7, 107929595: 107929595
10	LAMB1	NM_002291.2(LAMB1): c.4562T> G (p.Ile1521Ser)	single nucleotide variant	Uncertain significance	rs199646967	GRCh37	Chromosome 7, 107570040: 107570040
11	LAMB1	NM_002291.2(LAMB1): c.4393G> A (p.Val1465Ile)	single nucleotide variant	Likely pathogenic		GRCh38	Chromosome 7, 107931500: 107931500
12	LAMB1	NM_002291.2(LAMB1): c.4393G> A (p.Val1465Ile)	single nucleotide variant	Likely pathogenic		GRCh37	Chromosome 7, 107571945: 107571945
13	LAMB1	NM_002291.2(LAMB1): c.2684G> A (p.Cys895Tyr)	single nucleotide variant	Likely pathogenic		GRCh38	Chromosome 7, 107959255: 107959255
14	LAMB1	NM_002291.2(LAMB1): c.2684G> A (p.Cys895Tyr)	single nucleotide variant	Likely pathogenic		GRCh37	Chromosome 7, 107599700: 107599700
15	LAMB1	NM_002291.2(LAMB1): c.5347A> G (p.Ser1783Gly)	single nucleotide variant	Uncertain significance	rs374245297	GRCh37	Chromosome 7, 107564410: 107564410
16	LAMB1	NM_002291.2(LAMB1): c.5347A> G (p.Ser1783Gly)	single nucleotide variant	Uncertain significance	rs374245297	GRCh38	Chromosome 7, 107923965: 107923965
17	LAMB1	NM_002291.2(LAMB1): c.4183G> A (p.Glu1395Lys)	single nucleotide variant	Uncertain significance	rs146045042	GRCh37	Chromosome 7, 107575865: 107575865
18	LAMB1	NM_002291.2(LAMB1): c.4183G> A (p.Glu1395Lys)	single nucleotide variant	Uncertain significance	rs146045042	GRCh38	Chromosome 7, 107935420: 107935420

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Expression for Lissencephaly 5

Search GEO for disease gene expression data for Lissencephaly 5.

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Pathways for Lissencephaly 5

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GO Terms for Lissencephaly 5

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Sources for Lissencephaly 5

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia

LIS5 MCID: LSS025 MIFTS: 25	Lissencephaly 5 (LIS5) Categories: Cardiovascular diseases, Fetal diseases, Genetic diseases, Mental diseases, Muscle diseases, Neuronal diseases, Rare diseases, Skin diseases
Genes Variations Tissues Symptoms & Phenotypes Expand all tables

Lissencephaly 5 (LIS5)

Aliases & Classifications for Lissencephaly 5

MalaCards integrated aliases for Lissencephaly 5:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Lissencephaly 5

Related Diseases for Lissencephaly 5

Diseases in the Lissencephaly family:

Symptoms & Phenotypes for Lissencephaly 5

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Human phenotypes related to Lissencephaly 5:

UMLS symptoms related to Lissencephaly 5:

Drugs & Therapeutics for Lissencephaly 5

Genetic Tests for Lissencephaly 5

Genetic tests related to Lissencephaly 5:

Anatomical Context for Lissencephaly 5

MalaCards organs/tissues related to Lissencephaly 5:

Publications for Lissencephaly 5

Genes for Lissencephaly 5

Genes related to Lissencephaly 5 (1 elite genes):

Variations for Lissencephaly 5

ClinVar genetic disease variations for Lissencephaly 5:

Expression for Lissencephaly 5

Pathways for Lissencephaly 5

GO Terms for Lissencephaly 5

Sources for Lissencephaly 5