Lissencephaly 4 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Lissencephaly 4

MalaCards integrated aliases for Lissencephaly 4:

Name: Lissencephaly 4 ⁵⁸ ⁷⁶ ³⁰ ¹³ ⁶ ⁷⁴

Lissencephaly 4 with Microcephaly ⁵⁸ ⁷⁶

Microlissencephaly ⁷⁶ ⁷⁴

Lis4 ⁵⁸ ⁷⁶

Lissencephaly, Type 4 ⁴¹

Characteristics:

OMIM:

⁵⁸

Inheritance:
autosomal recessive

Miscellaneous:
onset in utero
lack of psychomotor development
four families have been reported (last curated june 2011)

HPO:

³³

lissencephaly 4:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases
Anatomical: Neuronal diseases Skin diseases Cardiovascular diseases Mental diseases Muscle diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁸ 614019

MeSH ⁴⁵ D054082

MedGen ⁴³ C3151461

SNOMED-CT via HPO ⁷⁰ 128613002 16026008 204036008 more

UMLS ⁷⁴ C1956147 C3151461

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Summaries for Lissencephaly 4

OMIM : ⁵⁸ Lissencephaly-4 is an autosomal recessive neurodevelopmental disorder characterized by lissencephaly, severe brain atrophy, extreme microcephaly (head circumference of more than 10 standard deviations (SD) below the mean), and profound mental retardation. It has also been referred to as 'microlissencephaly' (summary by Bakircioglu et al., 2011 and Alkuraya et al., 2011). For a general phenotypic description and a discussion of genetic heterogeneity of lissencephaly, see LIS1 (607432). (614019)

MalaCards based summary : Lissencephaly 4, also known as lissencephaly 4 with microcephaly, is related to microlissencephaly and microlissencephaly-micromelia syndrome. An important gene associated with Lissencephaly 4 is NDE1 (NudE Neurodevelopment Protein 1), and among its related pathways/superpathways is Signaling by Rho GTPases. Affiliated tissues include brain, cortex and cerebellum, and related phenotypes are seizures and short stature

UniProtKB/Swiss-Prot : ⁷⁶ Lissencephaly 4: A neurodevelopmental disorder characterized by lissencephaly, severe brain atrophy, extreme microcephaly, and profound mental retardation.

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Related Diseases for Lissencephaly 4

Diseases in the Lissencephaly family:

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

Diseases related to Lissencephaly 4 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 17)

#	Related Disease	Score	Top Affiliating Genes
1	microlissencephaly	12.6
2	microlissencephaly-micromelia syndrome	12.1
3	lissencephaly 2	11.9
4	cortical dysplasia, complex, with other brain malformations 7	11.4
5	lissencephaly	11.3
6	fetal akinesia deformation sequence 1	10.0
7	cerebellar hypoplasia	10.0
8	isolated growth hormone deficiency, type ia	10.0
9	roberts syndrome	10.0
10	microhydranencephaly	10.0
11	cortical dysplasia, complex, with other brain malformations 1	10.0
12	microcephaly 17, primary, autosomal recessive	10.0
13	tubulinopathies	10.0
14	dwarfism	10.0
15	pachygyria	10.0
16	aortic aneurysm, familial thoracic 4	9.6	MYH11 NDE1
17	aortic aneurysm, familial thoracic 6	9.5	MYH11 NDE1

Graphical network of the top 20 diseases related to Lissencephaly 4:

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Symptoms & Phenotypes for Lissencephaly 4

Human phenotypes related to Lissencephaly 4:

³³ (show all 10)

#	Description	HPO Frequency	HPO Source Accession
1	seizures ³³	frequent (33%)	HP:0001250
2	short stature ³³	occasional (7.5%)	HP:0004322
3	hypertonia ³³	occasional (7.5%)	HP:0001276
4	agenesis of corpus callosum ³³		HP:0001274
5	global developmental delay ³³		HP:0001263
6	microcephaly ³³		HP:0000252
7	cerebellar hypoplasia ³³		HP:0001321
8	intellectual disability, profound ³³		HP:0002187
9	lissencephaly ³³		HP:0001339
10	simplified gyral pattern ³³		HP:0009879

Symptoms via clinical synopsis from OMIM:

⁵⁸

Neurologic Central Nervous System:
lissencephaly
agenesis of the corpus callosum
seizures (in some patients)
simplified gyral pattern
mental retardation, profound
more

Growth Other:
poor growth

Growth Height:
short stature (in some patients)

Head And Neck Head:
microcephaly, profound (at least 10 sd below mean)

Clinical features from OMIM:

614019

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Drugs & Therapeutics for Lissencephaly 4

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	Comparative Bioequivalence Study of Wockhardt's Insulin Analogue Lispro (Listro™) With Humalog® in Healthy Subjects	Withdrawn	NCT01399255	Phase 1

Search NIH Clinical Center for Lissencephaly 4

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Genetic Tests for Lissencephaly 4

Genetic tests related to Lissencephaly 4:

#	Genetic test	Affiliating Genes
1	Lissencephaly 4 ³⁰	NDE1

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Anatomical Context for Lissencephaly 4

MalaCards organs/tissues related to Lissencephaly 4:

⁴²

Brain, Cortex, Cerebellum, Skin

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Publications for Lissencephaly 4

Articles related to Lissencephaly 4:

#	Title	Authors	Year
1	The first quaternary diamond-like semiconductor with 10-membered LiS4 rings exhibiting excellent nonlinear optical performances. ( 28144643 )	Wu K...Pan S	2017
2	Human mutations in NDE1 cause extreme microcephaly with lissencephaly [corrected]. ( 21529751 )	Alkuraya FS...Walsh CA	2011
3	The essential role of centrosomal NDE1 in human cerebral cortex neurogenesis. ( 21529752 )	Bakircioglu M...Woods CG	2011

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Genes for Lissencephaly 4

Genes related to Lissencephaly 4 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	NDE1	NudE Neurodevelopment Protein 1	Protein Coding	1036.82	Molecular basis known ⁵⁸ Pathogenic ⁶ Genetic Tests ³⁰ GeneCards inferred via : Disorders Summaries Variants (show sections)	21529752 21529751
2	MYH11	Myosin Heavy Chain 11	Protein Coding	17.12	GeneCards inferred via : Variants (show sections)

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Variations for Lissencephaly 4

ClinVar genetic disease variations for Lissencephaly 4:

⁶ (show all 26)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	NDE1	NM_001143979.1(NDE1): c.684_685delAC (p.Pro229Trpfs)	deletion	Pathogenic		GRCh37	Chromosome 16, 15785161: 15785162
2	NDE1	NM_001143979.1(NDE1): c.684_685delAC (p.Pro229Trpfs)	deletion	Pathogenic		GRCh38	Chromosome 16, 15691304: 15691305
3	NDE1	NDE1, IVS2DS, G-T, +1	single nucleotide variant	Pathogenic
4	NDE1	NM_001143979.1(NDE1): c.733dup (p.Leu245Profs)	duplication	Pathogenic		GRCh37	Chromosome 16, 15788051: 15788051
5	NDE1	NM_001143979.1(NDE1): c.733dup (p.Leu245Profs)	duplication	Pathogenic		GRCh38	Chromosome 16, 15694194: 15694194
6	NDE1	NM_001143979.1(NDE1): c.84-5T> C	single nucleotide variant	Uncertain significance	rs587783872	GRCh37	Chromosome 16, 15761138: 15761138
7	NDE1	NM_001143979.1(NDE1): c.84-5T> C	single nucleotide variant	Uncertain significance	rs587783872	GRCh38	Chromosome 16, 15667281: 15667281
8	NDE1	NM_001143979.1(NDE1): c.623C> T (p.Ala208Val)	single nucleotide variant	Uncertain significance	rs587783867	GRCh37	Chromosome 16, 15785100: 15785100
9	NDE1	NM_001143979.1(NDE1): c.623C> T (p.Ala208Val)	single nucleotide variant	Uncertain significance	rs587783867	GRCh38	Chromosome 16, 15691243: 15691243
10	NDE1	NM_001143979.1(NDE1): c.658C> T (p.Arg220Ter)	single nucleotide variant	Pathogenic	rs576928842	GRCh37	Chromosome 16, 15785135: 15785135
11	NDE1	NM_001143979.1(NDE1): c.658C> T (p.Arg220Ter)	single nucleotide variant	Pathogenic	rs576928842	GRCh38	Chromosome 16, 15691278: 15691278
12	NDE1	NM_001143979.1(NDE1): c.744G> A (p.Ala248=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs1123418	GRCh37	Chromosome 16, 15788062: 15788062
13	NDE1	NM_001143979.1(NDE1): c.744G> A (p.Ala248=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs1123418	GRCh38	Chromosome 16, 15694205: 15694205
14	NDE1	NM_001143979.1(NDE1): c.872C> T (p.Ser291Phe)	single nucleotide variant	Uncertain significance	rs146284370	GRCh37	Chromosome 16, 15790642: 15790642
15	NDE1	NM_001143979.1(NDE1): c.872C> T (p.Ser291Phe)	single nucleotide variant	Uncertain significance	rs146284370	GRCh38	Chromosome 16, 15696785: 15696785
16	MYH11; NDE1	NM_001143979.1(NDE1): c.956C> T (p.Thr319Met)	single nucleotide variant	Uncertain significance	rs141262029	GRCh37	Chromosome 16, 15818056: 15818056
17	MYH11; NDE1	NM_001143979.1(NDE1): c.956C> T (p.Thr319Met)	single nucleotide variant	Uncertain significance	rs141262029	GRCh38	Chromosome 16, 15724199: 15724199
18	NDE1	NM_001143979.1(NDE1): c.155C> T (p.Thr52Met)	single nucleotide variant	Uncertain significance	rs148118152	GRCh37	Chromosome 16, 15761214: 15761214
19	NDE1	NM_001143979.1(NDE1): c.155C> T (p.Thr52Met)	single nucleotide variant	Uncertain significance	rs148118152	GRCh38	Chromosome 16, 15667357: 15667357
20	NDE1	NM_001143979.1(NDE1): c.302C> T (p.Ala101Val)	single nucleotide variant	Uncertain significance	rs201587506	GRCh37	Chromosome 16, 15771722: 15771722
21	NDE1	NM_001143979.1(NDE1): c.302C> T (p.Ala101Val)	single nucleotide variant	Uncertain significance	rs201587506	GRCh38	Chromosome 16, 15677865: 15677865
22	NDE1	NM_001143979.1(NDE1): c.83+1G> T	single nucleotide variant	Pathogenic	rs1456594953	GRCh37	Chromosome 16, 15758719: 15758719
23	NDE1	NM_001143979.1(NDE1): c.83+1G> T	single nucleotide variant	Pathogenic	rs1456594953	GRCh38	Chromosome 16, 15664862: 15664862
24	NDE1	NM_001143979.1(NDE1): c.701G> A (p.Arg234His)	single nucleotide variant	Uncertain significance	rs138255766	GRCh38	Chromosome 16, 15691321: 15691321
25	NDE1	NM_001143979.1(NDE1): c.701G> A (p.Arg234His)	single nucleotide variant	Uncertain significance	rs138255766	GRCh37	Chromosome 16, 15785178: 15785178
26	NDE1	GRCh37/hg19 16p13.11(chr16: 15758011-15761384)	copy number loss	Pathogenic		GRCh37	Chromosome 16, 15758011: 15761384

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Expression for Lissencephaly 4

Search GEO for disease gene expression data for Lissencephaly 4.

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Pathways for Lissencephaly 4

Pathways related to Lissencephaly 4 according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Signaling by Rho GTPases ⁶⁷ Show member pathways RHO GTPase Effectors ⁶⁷	11.48	MYH11 NDE1

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GO Terms for Lissencephaly 4

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Sources for Lissencephaly 4

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 EFO

¹⁸ ExPASy

¹⁹ FDA Approved Drugs

²⁰ FMA

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ Genetics Home Reference

²⁷ GenomeRNAi

²⁸ GEO DataSets

²⁹ GO

³⁰ GTR

³¹ HGMD

³² HMDB

³³ HPO

³⁴ ICD10

³⁵ ICD10 via Orphanet

³⁶ ICD9CM

³⁷ IUPHAR

³⁸ KEGG

³⁹ LifeMap

⁴⁰ LncRNADisease

⁴¹ LOVD

⁴² MalaCards

⁴³ MedGen

⁴⁴ MedlinePlus

⁴⁵ MeSH

⁴⁶ MESH via Orphanet

⁴⁷ MGI

⁴⁸ miR2Disease

⁴⁹ NCBI Bookshelf

⁵⁰ NCI

⁵¹ NCIt

⁵² NDF-RT

⁵³ NIH Clinical Center

⁵⁴ NIH Rare Diseases

⁵⁵ NINDS

⁵⁶ Novoseek

⁵⁷ Novus Biologicals

⁵⁸ OMIM

⁵⁹ OMIM via Orphanet

⁶⁰ Orphanet

⁶¹ PathCards

⁶² PharmGKB

⁶³ PubMed

⁶⁴ PubMed Health

⁶⁵ QIAGEN

⁶⁶ R&D Systems

⁶⁷ Reactome

⁶⁸ Sino Biological

⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia

Lissencephaly 4 (LIS4)

Aliases & Classifications for Lissencephaly 4

MalaCards integrated aliases for Lissencephaly 4:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Lissencephaly 4

Related Diseases for Lissencephaly 4

Diseases in the Lissencephaly family:

Diseases related to Lissencephaly 4 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Lissencephaly 4:

Symptoms & Phenotypes for Lissencephaly 4

Human phenotypes related to Lissencephaly 4:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Lissencephaly 4

Interventional clinical trials:

Genetic Tests for Lissencephaly 4

Genetic tests related to Lissencephaly 4:

Anatomical Context for Lissencephaly 4

MalaCards organs/tissues related to Lissencephaly 4:

Publications for Lissencephaly 4

Articles related to Lissencephaly 4:

Genes for Lissencephaly 4

Genes related to Lissencephaly 4 (1 elite genes):

Variations for Lissencephaly 4

ClinVar genetic disease variations for Lissencephaly 4:

Expression for Lissencephaly 4

Pathways for Lissencephaly 4

Pathways related to Lissencephaly 4 according to GeneCards Suite gene sharing:

GO Terms for Lissencephaly 4

Sources for Lissencephaly 4