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 ¹¹ ⁷³ ²⁸ ⁵ ¹⁴ ⁷¹

Lissencephaly 4 with Microcephaly ⁵⁷ ¹¹ ⁷³

Lis4 ⁵⁷ ¹¹ ⁷³

Microlissencephaly ⁷³ ⁷¹

Lissencephaly, Type 4 ³⁸

Characteristics:

Inheritance:

Autosomal recessive ⁵⁷

OMIM®:

⁵⁷ (Updated 08-Dec-2022)

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

Classifications:

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

See all MalaCards categories (disease lists)

External Ids:

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Summaries for Lissencephaly 4

OMIM®: ⁵⁷ Lissencephaly-4 (LIS4) 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) (Updated 08-Dec-2022)

MalaCards based summary: Lissencephaly 4, also known as lissencephaly 4 with microcephaly, is related to lissencephaly 2 and lissencephaly 1. An important gene associated with Lissencephaly 4 is NDE1 (NudE Neurodevelopment Protein 1), and among its related pathways/superpathways are Cell Cycle Checkpoints and Neurogenesis regulation in the olfactory epithelium. Affiliated tissues include brain, cortex and cerebellum, and related phenotypes are seizure and agenesis of corpus callosum

Disease Ontology: ¹¹ A microlissencephaly characterized by lissencephaly, severe brain atrophy, extreme microcephaly, and profound intellectual disability that has material basis in homozygous or compound heterozygous mutation in NDE1 on chromosome 16p13.11.

UniProtKB/Swiss-Prot: ⁷³ A neurodevelopmental disorder characterized by lissencephaly, severe brain atrophy, extreme microcephaly, and profound intellectual disability.

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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
Lissencephaly 10	Lissencephaly 6

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

(show top 50) (show all 53)

#	Related Disease	Score	Top Affiliating Genes
1	lissencephaly 2	32.0	PAFAH1B1 NDE1
2	lissencephaly 1	29.9	YWHAE PAFAH1B1 NDEL1 NDE1
3	microlissencephaly	29.8	PAFAH1B1 NDEL1 NDE1
4	lissencephaly	29.6	YWHAE PAFAH1B1 NDEL1 NDE1
5	microlissencephaly-micromelia syndrome	11.3
6	cortical dysplasia, complex, with other brain malformations 7	11.1
7	lissencephaly 6	10.9
8	corpus callosum, agenesis of	10.2
9	cerebellar hypoplasia	10.1
10	polymicrogyria, bilateral perisylvian, x-linked	10.0	YWHAE NDE1
11	pontocerebellar hypoplasia	10.0
12	polymicrogyria	10.0
13	tubulinopathy	10.0
14	band heterotopia	10.0	PAFAH1B1 NDEL1 NDE1
15	periventricular nodular heterotopia	10.0	PAFAH1B1 NDEL1 NDE1
16	chromosome 17p13.3, centromeric, duplication syndrome	10.0	YWHAE PAFAH1B1 NDEL1
17	microhydranencephaly	9.9
18	microcephaly	9.9
19	spastic quadriplegia	9.9
20	quadriplegia	9.9
21	potocki-lupski syndrome	9.9	YWHAE PAFAH1B1
22	miller-dieker lissencephaly syndrome	9.9	YWHAE PAFAH1B1 NDEL1 NDE1
23	arthrogryposis, distal, type 1a	9.8
24	hypertelorism	9.8
25	fetal akinesia deformation sequence 1	9.8
26	microcephalic osteodysplastic primordial dwarfism, type i	9.8
27	hydrocephalus, congenital, 1	9.8
28	baraitser-winter syndrome 1	9.8
29	isolated growth hormone deficiency, type ia	9.8
30	pseudovaginal perineoscrotal hypospadias	9.8
31	roberts-sc phocomelia syndrome	9.8
32	lissencephaly 3	9.8
33	cortical dysplasia, complex, with other brain malformations 1	9.8
34	pontocerebellar hypoplasia, type 1b	9.8
35	microcephaly 17, primary, autosomal recessive	9.8
36	neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity	9.8
37	distal arthrogryposis	9.8
38	baraitser-winter syndrome	9.8
39	primary microcephaly	9.8
40	spinal muscular atrophy	9.8
41	osteochondrodysplasia	9.8
42	hydranencephaly	9.8
43	muscular atrophy	9.8
44	baraitser-winter cerebrofrontofacial syndrome	9.8
45	exosc3 pontocerebellar hypoplasia	9.8
46	penis agenesis	9.8
47	hypotonia	9.8
48	spasticity	9.8
49	cerebellar malformation	9.8
50	rhombencephalosynapsis	9.8

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:

³⁰ (show all 15)

#	Description	HPO Frequency	HPO Source Accession
1	seizure ³⁰	Very rare (1%)	HP:0001250
2	agenesis of corpus callosum ³⁰	Very rare (1%)	HP:0001274
3	hyperreflexia ³⁰	Very rare (1%)	HP:0001347
4	global developmental delay ³⁰	Very rare (1%)	HP:0001263
5	wide nasal bridge ³⁰	Very rare (1%)	HP:0000431
6	short stature ³⁰	Very rare (1%)	HP:0004322
7	hypertonia ³⁰	Very rare (1%)	HP:0001276
8	cerebellar hypoplasia ³⁰	Very rare (1%)	HP:0001321
9	babinski sign ³⁰	Very rare (1%)	HP:0003487
10	feeding difficulties ³⁰	Very rare (1%)	HP:0011968
11	colpocephaly ³⁰	Very rare (1%)	HP:0030048
12	lissencephaly ³⁰	Very rare (1%)	HP:0001339
13	intellectual disability, profound ³⁰	Very rare (1%)	HP:0002187
14	simplified gyral pattern ³⁰	Very rare (1%)	HP:0009879
15	primary microcephaly ³⁰	Very rare (1%)	HP:0011451

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 08-Dec-2022)

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 (Updated 08-Dec-2022)

MGI Mouse Phenotypes related to Lissencephaly 4:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	cellular	MP:0005384	9.23	CNGB3 DCTN6 MATN3 NDE1 NDEL1 PAFAH1B1

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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 ²⁸	NDE1

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Anatomical Context for Lissencephaly 4

Organs/tissues related to Lissencephaly 4:

MalaCards : Brain, Cortex, Cerebellum, Fetal Brain, Eye

ODiseA: Brain

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Publications for Lissencephaly 4

Articles related to Lissencephaly 4:

(show top 50) (show all 54)

#	Title	Authors	PMID	Year
1	Phenotypic spectrum of NDE1-related disorders: from microlissencephaly to microhydranencephaly. ⁶² ⁵⁷ ⁵	Abdel-Hamid MS...Abdel-Salam GMH	30637988	2019
2	Human mutations in NDE1 cause extreme microcephaly with lissencephaly [corrected]. ⁶² ⁵⁷ ⁵	Alkuraya FS...Walsh CA	21529751	2011
3	The essential role of centrosomal NDE1 in human cerebral cortex neurogenesis. ⁶² ⁵⁷ ⁵	Bakircioglu M...Woods CG	21529752	2011
4	Mitotic spindle regulation by Nde1 controls cerebral cortical size. ⁵⁷	Feng Y...Walsh CA	15473967	2004
5	Tubulin mutations in human neurodevelopmental disorders. ⁶²	Maillard C...Buisson NB	35915025	2023
6	Broadening the phenotypic spectrum of TUBA1A tubulinopathy to syndromic arthrogryposis multiplex congenita. ⁶²	Weber M...Martinovic J	35686685	2022
7	Neurological outcome in WDR62 primary microcephaly. ⁶²	Ruaud L...Passemard S	35726608	2022
8	Magnetic Resonance Imaging of Malformations of Cortical Development-A Comprehensive Review. ⁶²	Khandelwal A...Bose A	34896352	2022
9	NDE1-related disorders: A recurrent NDE1 pathogenic variant causing Lissencephaly 4 can also be associated with microhydranencephaly. ⁶²	Bas H...Artan S	34562061	2022
10	A Novel Homozygous Frameshift WDR81 Mutation associated with Microlissencephaly, Corpus Callosum Agenesis, and Pontocerebellar Hypoplasia. ⁶²	Kalmar T...Sztriha L	33996189	2021
11	Ternary alkali ion thiogallates, A5GaS4 (A = Li and Na), with isolated tetrahedral building units and their ionic conductivities. ⁶²	Balijapelly S...Choudhury A	33960993	2021
12	Two different prenatal imaging cerebral patterns of tubulinopathy. ⁶²	Cabet S...Guibaud L	32149430	2021
13	Electrographic pattern recognition: A simple tool to predict clinical outcome in children with lissencephaly. ⁶²	Jauhari P...Gulati S	33161247	2020
14	[Microlissencephaly due to pathogenic variants of NDE1: from pathology to normal brain development]. ⁶²	Cabet S...Sanlaville D	33026328	2020
15	Prenatal sonographic diagnosis of Dandy-Walker malformation and type III lissencephaly: A novel association. ⁶²	Darouich S...Amraoui N	31859376	2020
16	Recurrent homozygous damaging mutation in TMX2, encoding a protein disulfide isomerase, in four families with microlissencephaly. ⁶²	Ghosh SG...Gleeson JG	31586943	2020
17	Pontocerebellar hypoplasia with rhombencephalosynapsis and microlissencephaly expands the spectrum of PCH type 1B. ⁶²	Saugier-Veber P...Laquerriere A	31770597	2020
18	Tubulin genes and malformations of cortical development. ⁶²	Romaniello R...Cushion TD	30016746	2018
19	WDR81 mutations cause extreme microcephaly and impair mitotic progression in human fibroblasts and Drosophila neural stem cells. ⁶²	Cavallin M...Bahi-Buisson N	28969387	2017
20	Value of Repeat Brain MRI in Children with Focal Epilepsy and Negative Findings on Initial MRI. ⁶²	Jeon TY...Lee M	28670168	2017
21	The first quaternary diamond-like semiconductor with 10-membered LiS4 rings exhibiting excellent nonlinear optical performances. ⁶²	Wu K...Pan S	28144643	2017
22	Katanin p80, NuMA and cytoplasmic dynein cooperate to control microtubule dynamics. ⁶²	Jin M...Hirotsune S	28079116	2017
23	[Neu-Laxova syndrome: Three case reports and a review of the literature]. ⁶²	Darouich S...Masmoudi A	27475004	2016
24	Mutations in Citron Kinase Cause Recessive Microlissencephaly with Multinucleated Neurons. ⁶²	Harding BN...Bielas SL	27453579	2016
25	De novo TUBB2B mutation causes fetal akinesia deformation sequence with microlissencephaly: An unusual presentation of tubulinopathy. ⁶²	Laquerriere A...Poirier K	26732629	2016
26	Magnetic Resonance Imaging of Malformations of Midbrain-Hindbrain. ⁶²	Abdel Razek AA...Castillo M	26599961	2016
27	TUBA1A Mutation Associated With Eye Abnormalities in Addition to Brain Malformation. ⁶²	Myers KA...Innes AM	26294046	2015
28	Rare ACTG1 variants in fetal microlissencephaly. ⁶²	Poirier K...Bahi-Buisson N	26188271	2015
29	A case of Norman-Roberts syndrome identified from postnatal diagnosis of microlissencephaly. ⁶²	Tosello B...Gire C	25927602	2015
30	Fetal brain disruption sequence versus fetal brain arrest: A distinct autosomal recessive developmental brain malformation phenotype. ⁶²	Abdel-Salam GM...Gaber KR	25755095	2015
31	Genotype-phenotype correlation in neuronal migration disorders and cortical dysplasias. ⁶²	Kato M	26052266	2015
32	Katanin p80 regulates human cortical development by limiting centriole and cilia number. ⁶²	Hu WF...Walsh CA	25521379	2014
33	Severe presentation of WDR62 mutation: is there a role for modifying genetic factors? ⁶²	Poulton CJ...Mancini GM	24842779	2014
34	Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephaly. ⁶²	Fallet-Bianco C...Bahi-Buisson N	25059107	2014
35	The wide spectrum of tubulinopathies: what are the key features for the diagnosis? ⁶²	Bahi-Buisson N...Chelly J	24860126	2014
36	Novel NDE1 homozygous mutation resulting in microhydranencephaly and not microlyssencephaly. ⁶²	Guven A...Tolun A	22526350	2012
37	Mutations in WDR62, encoding a centrosomal and nuclear protein, in Indian primary microcephaly families with cortical malformations. ⁶²	Bhat V...Kumar A	21496009	2011
38	Neuronal migration disorders in microcephalic osteodysplastic primordial dwarfism type I/III. ⁶²	Juric-Sekhar G...Hevner RF	20857301	2011
39	Lissencephalic syndromes: brain and beyond. ⁶²	Pavone L...Iannetti P	20036930	2010
40	[Genetic and clinical aspects of lissencephaly]. ⁶²	Verloes A...Gressens P	17571022	2007
41	Extreme microcephaly with agyria-pachygyria, partial agenesis of the corpus callosum, and pontocerebellar dysplasia. ⁶²	Sztriha L...Al-Gazali LI	15794192	2005
42	Microlissencephaly in microcephalic osteodysplastic primordial dwarfism: a case report and review of the literature. ⁶²	Klinge L...Voit T	12571786	2002
43	Microlissencephaly with cardiac, spinal and urogenital defects. ⁶²	Gardner RJ...Suthers GK	11446415	2001
44	Actualities in hydrocephalus classification and management possibilities. ⁶²	Mori K	10672591	2000
45	Diffuse pachygyria with cerebellar hypoplasia: a milder form of microlissencephaly or a new genetic syndrome? ⁶²	Kato M...Hayasaka K	10514106	1999
46	Autosomal recessive micrencephaly with simplified gyral pattern, abnormal myelination and arthrogryposis. ⁶²	Sztriha L...Nork M	10480209	1999
47	Microlissencephaly: a heterogeneous malformation of cortical development. ⁶²	Barkovich AJ...Evrard P	9706619	1998
48	Microlissencephaly. ⁶²	Sztriha L...Varughese M	9588537	1998
49	Lissencephaly with extreme cerebral and cerebellar hypoplasia. A magnetic resonance imaging study. ⁶²	Kroon AA...Hennekam RC	8971750	1996
50	Classification of hydrocephalus and outcome of treatment. ⁶²	Mori K...Watanabe K	8579221	1995

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Genes for Lissencephaly 4

Genes related to Lissencephaly 4 (1 elite genes):

(show all 13)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	NDE1	NudE Neurodevelopment Protein 1	Protein Coding	1023.51	Molecular basis known ⁵⁷ Pathogenic ⁵ Genetic Tests ²⁸ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Summaries (show sections)	21529751 21529752 30637988
2	NCLN	Nicalin	Protein Coding	6.14	DISEASES inferred ¹⁴
3	PAFAH1B1	Platelet Activating Factor Acetylhydrolase 1b Regulatory Subunit 1	Protein Coding	5.74	DISEASES inferred ¹⁴
4	NDEL1	NudE Neurodevelopment Protein 1 Like 1	Protein Coding	5.73	DISEASES inferred ¹⁴
5	YWHAE	Tyrosine 3-Monooxygenase/Tryptophan 5-Monooxygenase Activation Protein Epsilon	Protein Coding	5.15	DISEASES inferred ¹⁴
6	DBNDD2	Dysbindin Domain Containing 2	Protein Coding	5.05	DISEASES inferred ¹⁴
7	CNGB3	Cyclic Nucleotide Gated Channel Subunit Beta 3	Protein Coding	4.93	DISEASES inferred ¹⁴
8	MATN3	Matrilin 3	Protein Coding	4.86	DISEASES inferred ¹⁴
9	PRR12	Proline Rich 12	Protein Coding	4.86	DISEASES inferred ¹⁴
10	RRP7A	Ribosomal RNA Processing 7 Homolog A	Protein Coding	4.84	DISEASES inferred ¹⁴
11	VASP	Vasodilator Stimulated Phosphoprotein	Protein Coding	4.77	DISEASES inferred ¹⁴
12	DCTN6	Dynactin Subunit 6	Protein Coding	4.73	DISEASES inferred ¹⁴
13	MARF1	Meiosis Regulator And MRNA Stability Factor 1	Protein Coding	4.73	DISEASES inferred ¹⁴

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Variations for Lissencephaly 4

ClinVar genetic disease variations for Lissencephaly 4:

⁵ (show top 50) (show all 136)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	NDE1	NM_017668.3(NDE1):c.733dup (p.Leu245fs)	DUP	Pathogenic	30789	rs749768828	GRCh37: 16:15788045-15788046 GRCh38: 16:15694188-15694189
2	NDE1	GRCh37/hg19 16p13.11(chr16:15758011-15761384)	CN LOSS	Pathogenic	625823		GRCh37: 16:15758011-15761384 GRCh38:
3	NDE1	NM_017668.3(NDE1):c.109C>T (p.Arg37Ter)	SNV	Pathogenic	620567	rs757604577	GRCh37: 16:15761168-15761168 GRCh38: 16:15667311-15667311
4	NDE1	NM_017668.3(NDE1):c.658C>T (p.Arg220Ter)	SNV	Pathogenic	159015	rs576928842	GRCh37: 16:15785135-15785135 GRCh38: 16:15691278-15691278
5	NDE1	NM_017668.3(NDE1):c.54G>A (p.Trp18Ter)	SNV	Pathogenic	1696425		GRCh37: 16:15758689-15758689 GRCh38: 16:15664832-15664832
6	NDE1	NM_017668.3(NDE1):c.684_685del (p.Pro229fs)	MICROSAT	Pathogenic	30787	rs756206942	GRCh37: 16:15785157-15785158 GRCh38: 16:15691300-15691301
7	NDE1	NM_017668.3(NDE1):c.83+1G>T	SNV	Pathogenic	435939	rs1456594953	GRCh37: 16:15758719-15758719 GRCh38: 16:15664862-15664862
8	NDE1	NM_017668.3(NDE1):c.872C>T (p.Ser291Phe)	SNV	Conflicting Interpretations Of Pathogenicity Uncertain Significance	159020	rs146284370	GRCh37: 16:15790642-15790642 GRCh38: 16:15696785-15696785
9	MYH11, NDE1	NM_017668.3(NDE1):c.956C>T (p.Thr319Met)	SNV	Uncertain Significance	159022	rs141262029	GRCh37: 16:15818056-15818056 GRCh38: 16:15724199-15724199
10	NDE1	NM_001143979.2(NDE1):c.-398A>C	SNV	Uncertain Significance	318028	rs886051716	GRCh37: 16:15737552-15737552 GRCh38: 16:15643695-15643695
11	MYH11, NDE1	NM_017668.3(NDE1):c.*901C>A	SNV	Uncertain Significance	885962	rs1487148358	GRCh37: 16:15819009-15819009 GRCh38: 16:15725152-15725152
12	MYH11, NDE1	NM_017668.3(NDE1):c.*593A>G	SNV	Uncertain Significance	318126	rs770305005	GRCh37: 16:15818701-15818701 GRCh38: 16:15724844-15724844
13	MYH11, NDE1	NM_017668.3(NDE1):c.*1305C>A	SNV	Uncertain Significance	888227	rs201510034	GRCh37: 16:15819413-15819413 GRCh38: 16:15725556-15725556
14	MYH11, NDE1	NM_017668.3(NDE1):c.*1366C>T	SNV	Uncertain Significance	888228	rs2040715879	GRCh37: 16:15819474-15819474 GRCh38: 16:15725617-15725617
15	MYH11, NDE1	NM_017668.3(NDE1):c.*1383G>A	SNV	Uncertain Significance	888229	rs1265003834	GRCh37: 16:15819491-15819491 GRCh38: 16:15725634-15725634
16	NDE1	NM_017668.3(NDE1):c.744G>A (p.Ala248=)	SNV	Uncertain Significance	159018	rs1123418	GRCh37: 16:15788062-15788062 GRCh38: 16:15694205-15694205
17	NDE1	NM_001143979.2(NDE1):c.-512T>G	SNV	Uncertain Significance	318026	rs886051714	GRCh37: 16:15737438-15737438 GRCh38: 16:15643581-15643581
18	NDE1	NM_001143979.1(NDE1):c.-812C>T	SNV	Uncertain Significance	318015	rs886051710	GRCh37: 16:15737138-15737138 GRCh38: 16:15643281-15643281
19	NDE1	NM_001143979.2(NDE1):c.-695C>T	SNV	Uncertain Significance	318018	rs551758626	GRCh37: 16:15737255-15737255 GRCh38: 16:15643398-15643398
20	NDE1	NM_001143979.2(NDE1):c.-479C>T	SNV	Uncertain Significance	318027	rs886051715	GRCh37: 16:15737471-15737471 GRCh38: 16:15643614-15643614
21	NDE1	NM_001143979.2(NDE1):c.-340T>A	SNV	Uncertain Significance	318030	rs752993685	GRCh37: 16:15737610-15737610 GRCh38: 16:15643753-15643753
22	NDE1	NM_001143979.2(NDE1):c.-186G>T	SNV	Uncertain Significance	318033	rs886051718	GRCh37: 16:15737764-15737764 GRCh38: 16:15643907-15643907
23	NDE1, MIR484	NM_001143979.1(NDE1):c.-794C>T	SNV	Uncertain Significance	884574	rs867184365	GRCh37: 16:15737156-15737156 GRCh38: 16:15643299-15643299
24	NDE1, MIR484	NM_001143979.1(NDE1):c.-765C>T	SNV	Uncertain Significance	884575	rs374184031	GRCh37: 16:15737185-15737185 GRCh38: 16:15643328-15643328
25	MYH11, NDE1	NM_002474.3(MYH11):c.5528C>T (p.Ser1843Leu)	SNV	Uncertain Significance	201039	rs148621523	GRCh37: 16:15809106-15809106 GRCh38: 16:15715249-15715249
26	NDE1	NM_001143979.2(NDE1):c.-132C>T	SNV	Uncertain Significance	318038	rs886051720	GRCh37: 16:15743238-15743238 GRCh38: 16:15649381-15649381
27	MYH11, NDE1	NM_002474.3(MYH11):c.4240G>A (p.Ala1414Thr)	SNV	Uncertain Significance	201073	rs112467954	GRCh37: 16:15818143-15818143 GRCh38: 16:15724286-15724286
28	MYH11, NDE1	NM_002474.3(MYH11):c.3897C>T (p.Ala1299=)	SNV	Uncertain Significance	257258	rs190546350	GRCh37: 16:15818811-15818811 GRCh38: 16:15724954-15724954
29	NDE1	NM_017668.3(NDE1):c.624C>T (p.Ala208=)	SNV	Uncertain Significance	386002	rs149046258	GRCh37: 16:15785101-15785101 GRCh38: 16:15691244-15691244
30	NDE1	NM_001143979.2(NDE1):c.-246A>C	SNV	Uncertain Significance	886533	rs2036218596	GRCh37: 16:15737704-15737704 GRCh38: 16:15643847-15643847
31	NDE1	NM_001143979.1(NDE1):c.-825G>A	SNV	Uncertain Significance	887717	rs1340834896	GRCh37: 16:15737125-15737125 GRCh38: 16:15643268-15643268
32	MYH11, NDE1	NM_002474.3(MYH11):c.4016G>A (p.Arg1339His)	SNV	Uncertain Significance	201071	rs374271463	GRCh37: 16:15818604-15818604 GRCh38: 16:15724747-15724747
33	MYH11, NDE1	NM_017668.3(NDE1):c.*388del	DEL	Uncertain Significance	201034	rs543763112	GRCh37: 16:15818493-15818493 GRCh38: 16:15724636-15724636
34	NDE1	NM_017668.3(NDE1):c.155C>T (p.Thr52Met)	SNV	Uncertain Significance Uncertain Significance	211577	rs148118152	GRCh37: 16:15761214-15761214 GRCh38: 16:15667357-15667357
35	NDE1	NM_017668.3(NDE1):c.302C>T (p.Ala101Val)	SNV	Uncertain Significance Uncertain Significance	287331	rs201587506	GRCh37: 16:15771722-15771722 GRCh38: 16:15677865-15677865
36	NDE1	NM_017668.3(NDE1):c.701G>A (p.Arg234His)	SNV	Uncertain Significance Uncertain Significance	435935	rs138255766	GRCh37: 16:15785178-15785178 GRCh38: 16:15691321-15691321
37	NDE1	NM_017668.3(NDE1):c.291G>A (p.Glu97=)	SNV	Uncertain Significance	884703	rs760012847	GRCh37: 16:15771711-15771711 GRCh38: 16:15677854-15677854
38	NDE1	NM_017668.3(NDE1):c.12C>T (p.Ser4=)	SNV	Uncertain Significance	318045	rs572790932	GRCh37: 16:15758647-15758647 GRCh38: 16:15664790-15664790
39	NDE1	NM_017668.3(NDE1):c.921C>A (p.Ser307Arg)	SNV	Uncertain Significance	318068	rs368310178	GRCh37: 16:15790691-15790691 GRCh38: 16:15696834-15696834
40	NDE1	NM_017668.3(NDE1):c.720C>T (p.Thr240=)	SNV	Uncertain Significance	318064	rs150492774	GRCh37: 16:15788038-15788038 GRCh38: 16:15694181-15694181
41	NDE1	NM_017668.3(NDE1):c.309C>G (p.Thr103=)	SNV	Uncertain Significance	318059	rs376548563	GRCh37: 16:15771729-15771729 GRCh38: 16:15677872-15677872
42	NDE1	NM_017668.3(NDE1):c.386+9G>A	SNV	Uncertain Significance	288031	rs147174812	GRCh37: 16:15771815-15771815 GRCh38: 16:15677958-15677958
43	NDE1	NM_017668.3(NDE1):c.84-5T>C	SNV	Uncertain Significance	159019	rs587783872	GRCh37: 16:15761138-15761138 GRCh38: 16:15667281-15667281
44	NDE1	NM_017668.3(NDE1):c.623C>T (p.Ala208Val)	SNV	Uncertain Significance	159014	rs587783867	GRCh37: 16:15785100-15785100 GRCh38: 16:15691243-15691243
45	NDE1	NM_017668.3(NDE1):c.145G>T (p.Glu49Ter)	SNV	Uncertain Significance	631746	rs1567627484	GRCh37: 16:15761204-15761204 GRCh38: 16:15667347-15667347
46	NDE1	NM_017668.3(NDE1):c.214C>T (p.Arg72Cys)	SNV	Uncertain Significance	800855	rs777008106	GRCh37: 16:15761273-15761273 GRCh38: 16:15667416-15667416
47	NDE1	NM_017668.3(NDE1):c.524-6G>A	SNV	Uncertain Significance	884704	rs770035211	GRCh37: 16:15784995-15784995 GRCh38: 16:15691138-15691138
48	NDE1	NM_017668.3(NDE1):c.712G>A (p.Asp238Asn)	SNV	Uncertain Significance	885644	rs369224665	GRCh37: 16:15788030-15788030 GRCh38: 16:15694173-15694173
49	NDE1	NM_017668.3(NDE1):c.184A>G (p.Arg62Gly)	SNV	Uncertain Significance	886605	rs1000629971	GRCh37: 16:15761243-15761243 GRCh38: 16:15667386-15667386
50	NDE1	NM_017668.3(NDE1):c.814G>A (p.Ala272Thr)	SNV	Uncertain Significance	886655	rs1360459460	GRCh37: 16:15790584-15790584 GRCh38: 16:15696727-15696727

Sources

Expression for Lissencephaly 4

Search GEO for disease gene expression data for Lissencephaly 4.

Sources

Pathways for Lissencephaly 4

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

#	Super pathways	Score	Top Affiliating Genes
1	Cell Cycle Checkpoints ⁶⁶ Show member pathways G2/M Checkpoints ⁶⁶	11.92	YWHAE PAFAH1B1 NDEL1 NDE1
2	Neurogenesis regulation in the olfactory epithelium ⁷⁴	10.91	PAFAH1B1 NDEL1
3	Lissencephaly gene (LIS1) in neuronal migration and development ⁶¹	10.25	YWHAE PAFAH1B1 NDEL1

Sources

GO Terms for Lissencephaly 4

Cellular components related to Lissencephaly 4 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	centrosome	GO:0005813	9.96	DCTN6 NDE1 NDEL1 PAFAH1B1 RRP7A
2	cytoskeleton	GO:0005856	9.85	VASP RRP7A PAFAH1B1 NDEL1 NDE1 DCTN6
3	kinesin complex	GO:0005871	9.63	PAFAH1B1 NDEL1 NDE1
4	microtubule organizing center	GO:0005815	9.62	RRP7A PAFAH1B1 NDEL1 NDE1
5	chromosome, centromeric region	GO:0000775	9.58	NDEL1 NDE1 DCTN6
6	kinetochore	GO:0000776	9.56	PAFAH1B1 NDEL1 NDE1 DCTN6
7	central region of growth cone	GO:0090724	8.92	PAFAH1B1 NDEL1

Biological processes related to Lissencephaly 4 according to GeneCards Suite gene sharing:

(show all 13)

#	Name	GO ID	Score	Top Affiliating Genes
1	cerebral cortex development	GO:0021987	9.91	YWHAE PAFAH1B1 NDE1
2	positive regulation of axon extension	GO:0045773	9.83	PAFAH1B1 NDEL1
3	microtubule nucleation	GO:0007020	9.81	NDEL1 NDE1
4	centrosome localization	GO:0051642	9.8	NDEL1 NDE1
5	establishment of mitotic spindle orientation	GO:0000132	9.8	NDE1 NDEL1 PAFAH1B1
6	retrograde axonal transport	GO:0008090	9.76	PAFAH1B1 NDEL1
7	mitotic centrosome separation	GO:0007100	9.71	NDEL1 NDE1
8	neuron migration	GO:0001764	9.7	YWHAE PAFAH1B1 NDEL1 NDE1
9	nuclear membrane disassembly	GO:0051081	9.67	NDEL1 PAFAH1B1
10	microtubule organizing center organization	GO:0031023	9.65	PAFAH1B1 NDE1
11	radial glia-guided pyramidal neuron migration	GO:0140650	9.56	PAFAH1B1 NDEL1
12	establishment of chromosome localization	GO:0051303	9.26	NDEL1 NDE1
13	vesicle transport along microtubule	GO:0047496	9.1	PAFAH1B1 NDEL1 NDE1

Molecular functions related to Lissencephaly 4 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	dynein complex binding	GO:0070840	8.92	PAFAH1B1 DCTN6

Sources

Sources for Lissencephaly 4

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

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 Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

LIS4 MCID: LSS010 MIFTS: 46	Lissencephaly 4 (LIS4) Categories: Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Muscle diseases, Neuronal diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

Lissencephaly 4 (LIS4)

Aliases & Classifications for Lissencephaly 4

MalaCards integrated aliases for Lissencephaly 4:

Characteristics:

Inheritance:

OMIM®:

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®:

MGI Mouse Phenotypes related to Lissencephaly 4:

Drugs & Therapeutics for Lissencephaly 4

Genetic Tests for Lissencephaly 4

Genetic tests related to Lissencephaly 4:

Anatomical Context for Lissencephaly 4

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

Cellular components related to Lissencephaly 4 according to GeneCards Suite gene sharing:

Biological processes related to Lissencephaly 4 according to GeneCards Suite gene sharing:

Molecular functions related to Lissencephaly 4 according to GeneCards Suite gene sharing:

Sources for Lissencephaly 4