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 ⁵⁷ ⁷⁴ ²⁹ ²⁹ ¹³ ⁶ ⁷²

Lissencephaly 4 with Microcephaly ⁵⁷ ⁷⁴

Microlissencephaly ⁷⁴ ⁷²

Lis4 ⁵⁷ ⁷⁴

Lissencephaly, Type 4 ⁴⁰

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal recessive

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

HPO:

³²

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

Classifications:

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

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 614019 PS607432

MeSH ⁴⁴ D054082

MedGen ⁴² C3151461

UMLS ⁷² C1956147 C3151461

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Summaries for Lissencephaly 4

OMIM : ⁵⁷ 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 : ⁷⁴ 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 40)

#	Related Disease	Score	Top Affiliating Genes
1	microlissencephaly	12.7
2	microlissencephaly-micromelia syndrome	12.2
3	obsolete: microlissencephaly type b	12.2
4	lissencephaly 2	12.0
5	lissencephaly	11.7
6	cortical dysplasia, complex, with other brain malformations 7	11.6
7	microcephaly	10.4
8	pachygyria	10.3
9	cerebellar hypoplasia	10.2
10	corpus callosum, agenesis of	10.2
11	polymicrogyria with or without vascular-type ehlers-danlos syndrome	10.2
12	polymicrogyria	10.2
13	tubulinopathies	10.2
14	hypertelorism	10.0
15	fetal akinesia deformation sequence 1	10.0
16	microcephalic osteodysplastic primordial dwarfism, type i	10.0
17	hydrocephalus, congenital, 1	10.0
18	isolated growth hormone deficiency, type ia	10.0
19	pseudovaginal perineoscrotal hypospadias	10.0
20	roberts syndrome	10.0
21	ataxia and polyneuropathy, adult-onset	10.0
22	microhydranencephaly	10.0
23	tukel syndrome	10.0
24	lissencephaly 3	10.0
25	cortical dysplasia, complex, with other brain malformations 1	10.0
26	corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia	10.0
27	microcephaly 17, primary, autosomal recessive	10.0
28	alkuraya-kucinskas syndrome	10.0
29	distal arthrogryposis	10.0
30	baraitser-winter syndrome	10.0
31	primary autosomal recessive microcephaly	10.0
32	primary microcephaly	10.0
33	hydranencephaly	10.0
34	baraitser-winter cerebrofrontofacial syndrome	10.0
35	dwarfism	10.0
36	hypotonia	10.0
37	cerebral malformation	10.0
38	congenital amyoplasia	10.0
39	aortic aneurysm, familial thoracic 4	9.4	NDE1 MYH11
40	aortic aneurysm, familial thoracic 6	9.2	NDE1 MYH11

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:

³² (show all 10)

#	Description	HPO Frequency	HPO Source Accession
1	seizures ³²	frequent (33%)	HP:0001250
2	short stature ³²	occasional (7.5%)	HP:0004322
3	hypertonia ³²	occasional (7.5%)	HP:0001276
4	agenesis of corpus callosum ³²		HP:0001274
5	global developmental delay ³²		HP:0001263
6	microcephaly ³²		HP:0000252
7	cerebellar hypoplasia ³²		HP:0001321
8	intellectual disability, profound ³²		HP:0002187
9	lissencephaly ³²		HP:0001339
10	simplified gyral pattern ³²		HP:0009879

Symptoms via clinical synopsis from OMIM:

⁵⁷

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

Search Clinical Trials , 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 ²⁹	NDE1
2	Lissencephaly 4 (with Microcephaly) ²⁹

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Anatomical Context for Lissencephaly 4

MalaCards organs/tissues related to Lissencephaly 4:

⁴¹

Brain, Cortex, Cerebellum

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Publications for Lissencephaly 4

Articles related to Lissencephaly 4:

#	Title	Authors	PMID	Year
1	Human mutations in NDE1 cause extreme microcephaly with lissencephaly [corrected]. ⁸ ⁷¹	Alkuraya FS...Walsh CA	21529751	2011
2	The essential role of centrosomal NDE1 in human cerebral cortex neurogenesis. ⁸ ⁷¹	Bakircioglu M...Woods CG	21529752	2011
3	Mitotic spindle regulation by Nde1 controls cerebral cortical size. ⁸	Feng Y...Walsh CA	15473967	2004
4	The first quaternary diamond-like semiconductor with 10-membered LiS4 rings exhibiting excellent nonlinear optical performances. ³⁸	Wu K...Pan S	28144643	2017
5	Actualities in hydrocephalus classification and management possibilities. ³⁸	Mori K	10672591	2000
6	Classification of hydrocephalus and outcome of treatment. ³⁸	Mori K...Watanabe K	8579221	1995
7	Lissencephaly gene (LIS1) expression in the CNS suggests a role in neuronal migration. ³⁸	Reiner O...Caskey CT	7751941	1995
8	[Neuronal migration disorders: clinical-radiological correlation]. ³⁸	Guillen D...Martinez V	8548642	1995
9	Biological rhythms in patients with lissencephaly (agyria-pachygyria). ³⁸	Mori K...Kuroda Y	8214346	1993
10	[Neuronal migration anomalies. The magnetic resonance aspects of some types]. ³⁸	Muto M...Wang H	1475414	1992

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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	1037.19	Molecular basis known ⁵⁷ Pathogenic ⁶ Genetic Tests ²⁹ GeneCards inferred via : Disorders Summaries Variants (show sections)	21529751 21529752
2	MYH11	Myosin Heavy Chain 11	Protein Coding	17.08	GeneCards inferred via : Variants (show sections)

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Variations for Lissencephaly 4

ClinVar genetic disease variations for Lissencephaly 4:

⁶ (show all 15)

#	Gene	Variation	Type	Significance	SNP ID	GRCh37 Pos	GRCh38 Pos
1	NDE1	NM_001143979.2(NDE1): c.680_681AC[2] (p.Pro229fs)	short repeat	Pathogenic		16:15785161-15785162	16:15691304-15691305
2	NDE1	NDE1, IVS2DS, G-T, +1	single nucleotide variant	Pathogenic
3	NDE1	NM_001143979.2(NDE1): c.733dup (p.Leu245fs)	duplication	Pathogenic		16:15788051-15788051	16:15694194-15694194
4	NDE1	NM_001143979.2(NDE1): c.658C> T (p.Arg220Ter)	single nucleotide variant	Pathogenic	rs576928842	16:15785135-15785135	16:15691278-15691278
5	NDE1	NM_001143979.2(NDE1): c.83+1G> T	single nucleotide variant	Pathogenic	rs1456594953	16:15758719-15758719	16:15664862-15664862
6	NDE1	GRCh37/hg19 16p13.11(chr16: 15758011-15761384)	copy number loss	Pathogenic		16:15758011-15761384	:0-0
7	NDE1	NM_001143979.2(NDE1): c.744G> A (p.Ala248=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs1123418	16:15788062-15788062	16:15694205-15694205
8	NDE1	NM_001143979.2(NDE1): c.872C> T (p.Ser291Phe)	single nucleotide variant	Uncertain significance	rs146284370	16:15790642-15790642	16:15696785-15696785
9	MYH11 ; NDE1	NM_002474.3(MYH11): c.4327G> A (p.Val1443Met)	single nucleotide variant	Uncertain significance	rs141262029	16:15818056-15818056	16:15724199-15724199
10	NDE1	NM_001143979.2(NDE1): c.155C> T (p.Thr52Met)	single nucleotide variant	Uncertain significance	rs148118152	16:15761214-15761214	16:15667357-15667357
11	NDE1	NM_001143979.2(NDE1): c.302C> T (p.Ala101Val)	single nucleotide variant	Uncertain significance	rs201587506	16:15771722-15771722	16:15677865-15677865
12	NDE1	NM_001143979.2(NDE1): c.84-5T> C	single nucleotide variant	Uncertain significance	rs587783872	16:15761138-15761138	16:15667281-15667281
13	NDE1	NM_001143979.2(NDE1): c.623C> T (p.Ala208Val)	single nucleotide variant	Uncertain significance	rs587783867	16:15785100-15785100	16:15691243-15691243
14	NDE1	NM_001143979.2(NDE1): c.145G> T (p.Glu49Ter)	single nucleotide variant	Uncertain significance		16:15761204-15761204	16:15667347-15667347
15	NDE1	NM_001143979.2(NDE1): c.701G> A (p.Arg234His)	single nucleotide variant	Uncertain significance	rs138255766	16:15785178-15785178	16:15691321-15691321

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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 ⁶⁶ Show member pathways RHO GTPase Effectors ⁶⁶	11.48	NDE1 MYH11

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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 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 TGDB

⁷¹ Tocris

⁷² UMLS

⁷³ UMLS via Orphanet

⁷⁴ UniProtKB/Swiss-Prot

⁷⁵ 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

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