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 ¹² ⁷² ²⁹ ¹³ ⁶ ⁷⁰

Lis5 ⁵⁷ ¹² ⁷²

Cobblestone Lissencephaly Without Muscular or Ocular Involvement ⁵⁸

Cobblestone Lissencephaly Without Muscular or Eye Involvement ⁵⁸

Lissencephaly Type 2 Without Muscular or Ocular Involvement ⁵⁸

Lissencephaly Type 2 Without Muscular or Eye Involvement ⁵⁸

Lissencephaly, Type 5 ³⁹

Characteristics:

Orphanet epidemiological data:

⁵⁸

cobblestone lissencephaly without muscular or ocular involvement
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

⁵⁷ (Updated 05-Apr-2021)

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:

³¹

lissencephaly 5:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity progressive

Classifications:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases
Anatomical: Neuronal diseases Eye diseases Muscle diseases Respiratory diseases Mental diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations of the nervous system

Other congenital malformations of brain

Other reduction deformities of brain

Orphanet: ⁵⁸

Rare neurological diseases

Developmental anomalies during embryogenesis

External Ids:

Disease Ontology ¹² DOID:0112230

OMIM® ⁵⁷ 615191

OMIM Phenotypic Series ⁵⁷ PS607432

MeSH ⁴⁴ D054082

ICD10 via Orphanet ³³ Q04.3

Orphanet ⁵⁸ ORPHA352682

MedGen ⁴¹ C3554657 CN169267

UMLS ⁷⁰ 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) (Updated 05-Apr-2021)

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 cortex, brain and eye, and related phenotypes are hydrocephalus and optic atrophy

Disease Ontology : ¹² 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 : ⁷² 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
Lissencephaly 10	Lissencephaly 6

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Symptoms & Phenotypes for Lissencephaly 5

Human phenotypes related to Lissencephaly 5:

⁵⁸ ³¹ (show all 24)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	hydrocephalus ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000238
2	optic atrophy ⁵⁸ ³¹	occasional (7.5%)	Frequent (79-30%)	HP:0000648
3	severe global developmental delay ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0011344
4	cerebellar hypoplasia ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001321
5	gray matter heterotopia ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002282
6	occipital encephalocele ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002085
7	abnormality of the cerebral white matter ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002500
8	type ii lissencephaly ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0007260
9	abnormal myelination ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0012447
10	hypoplasia of the brainstem ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002365
11	dysgyria ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0032398
12	hearing impairment ³¹	occasional (7.5%)		HP:0000365
13	cataract ³¹	occasional (7.5%)		HP:0000518
14	seizure ³¹	occasional (7.5%)		HP:0001250
15	macrocephaly ³¹			HP:0000256
16	intellectual disability ³¹			HP:0001249
17	seizures ⁵⁸		Occasional (29-5%)
18	emg abnormality ⁵⁸		Excluded (0%)
19	spastic paraplegia ³¹			HP:0001258
20	leukoencephalopathy ³¹			HP:0002352
21	psychomotor retardation ³¹			HP:0025356
22	generalized hypotonia ³¹			HP:0001290
23	porencephalic cyst ³¹			HP:0002132
24	subcortical band heterotopia ³¹			HP:0032409

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 05-Apr-2021)

Neurologic Central Nervous System:
seizures
hydrocephalus
spastic paraplegia
cerebellar hypoplasia
leukoencephalopathy
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 (Updated 05-Apr-2021)

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:

⁴⁰

Cortex, Brain, Eye

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Publications for Lissencephaly 5

Articles related to Lissencephaly 5:

#	Title	Authors	PMID	Year
1	Cystic leukoencephalopathy with cortical dysplasia related to LAMB1 mutations. ⁶ ⁵⁷	Tonduti D...Boespflug-Tanguy O	25925986	2015
2	Mutations in LAMB1 cause cobblestone brain malformation without muscular or ocular abnormalities. ⁵⁷ ⁶	Radmanesh F...Gleeson JG	23472759	2013
3	[Synthesis and analysis of potent cyclic analogs of the ACTH active center]. ⁶¹	Liepkaula IK...Ratkevich MP	6093819	1984

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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	PubMed IDs
1	LAMB1	Laminin Subunit Beta 1	Protein Coding	1366.95	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁸ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	23472759

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Variations for Lissencephaly 5

ClinVar genetic disease variations for Lissencephaly 5:

⁶ (show all 17)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	LAMB1	NM_002291.3(LAMB1):c.3145_3158delinsCCAGTGCTTGTGTCTTCCTAATGTGCTTGTGTCTTCCTAAT (p.Lys1049_Gln1053delinsProValLeuValSerSerTer)	Indel	Pathogenic	42014	rs387907343	GRCh37: 7:107592590-107592603 GRCh38: 7:107952145-107952158
2	LAMB1	NM_002291.3(LAMB1):c.2109+1G>T	SNV	Pathogenic	42015	rs387907344	GRCh37: 7:107601650-107601650 GRCh38: 7:107961205-107961205
3	LAMB1	NM_002291.3(LAMB1):c.1442G>T (p.Cys481Phe)	SNV	Pathogenic	225688	rs879255267	GRCh37: 7:107615471-107615471 GRCh38: 7:107975026-107975026
4	LAMB1	NM_002291.3(LAMB1):c.2931del (p.Gln977fs)	Deletion	Pathogenic	225687	rs879255266	GRCh37: 7:107594123-107594123 GRCh38: 7:107953678-107953678
5	LAMB1	NM_002291.3(LAMB1):c.1189C>T (p.Arg397Ter)	SNV	Pathogenic	1029431		GRCh37: 7:107616134-107616134 GRCh38: 7:107975689-107975689
6	LAMB1	NM_002291.3(LAMB1):c.3796C>T (p.Gln1266Ter)	SNV	Pathogenic	1032807		GRCh37: 7:107577688-107577688 GRCh38: 7:107937243-107937243
7	LAMB1	NM_002291.3(LAMB1):c.4648C>T (p.Arg1550Ter)	SNV	Uncertain significance	930970		GRCh37: 7:107569954-107569954 GRCh38: 7:107929509-107929509
8	LAMB1	NM_002291.3(LAMB1):c.452A>G (p.Glu151Gly)	SNV	Uncertain significance	931301		GRCh37: 7:107626780-107626780 GRCh38: 7:107986335-107986335
9	LAMB1	NM_002291.3(LAMB1):c.2092T>A (p.Tyr698Asn)	SNV	Uncertain significance	1029432		GRCh37: 7:107601668-107601668 GRCh38: 7:107961223-107961223
10	LAMB1	NM_002291.3(LAMB1):c.2402G>A (p.Arg801Lys)	SNV	Uncertain significance	1029433		GRCh37: 7:107600192-107600192 GRCh38: 7:107959747-107959747
11	LAMB1	NM_002291.3(LAMB1):c.4188G>C (p.Met1396Ile)	SNV	Uncertain significance	1029434		GRCh37: 7:107575860-107575860 GRCh38: 7:107935415-107935415
12	LAMB1	NM_002291.3(LAMB1):c.2723T>C (p.Ile908Thr)	SNV	Uncertain significance	709400	rs139487685	GRCh37: 7:107596043-107596043 GRCh38: 7:107955598-107955598
13	LAMB1	NM_002291.3(LAMB1):c.4562T>G (p.Ile1521Ser)	SNV	Uncertain significance	522776	rs199646967	GRCh37: 7:107570040-107570040 GRCh38: 7:107929595-107929595
14	LAMB1	NM_002291.3(LAMB1):c.4183G>A (p.Glu1395Lys)	SNV	Uncertain significance	561153	rs146045042	GRCh37: 7:107575865-107575865 GRCh38: 7:107935420-107935420
15	LAMB1	NM_002291.3(LAMB1):c.5347A>G (p.Ser1783Gly)	SNV	Uncertain significance	561154	rs374245297	GRCh37: 7:107564410-107564410 GRCh38: 7:107923965-107923965
16	LAMB1	NM_002291.3(LAMB1):c.4277G>C (p.Gly1426Ala)	SNV	Uncertain significance	973338		GRCh37: 7:107572734-107572734 GRCh38: 7:107932289-107932289
17	LAMB1	NM_002291.3(LAMB1):c.3422C>T (p.Thr1141Met)	SNV	Likely benign	977874		GRCh37: 7:107580773-107580773 GRCh38: 7:107940328-107940328

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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

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⁴⁸ NCBI Bookshelf

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⁵² NIH Clinical Center

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⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Apr-2021)

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⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ Wikipedia

LIS5 MCID: LSS025 MIFTS: 28	Lissencephaly 5 (LIS5) Categories: Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Muscle diseases, Neuronal diseases, Rare diseases, Respiratory diseases
Genes Variations Tissues Publications 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

Human phenotypes related to Lissencephaly 5:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

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

Articles related to 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