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 ⁵⁶ ⁷³ ²⁹ ²⁹ ¹³ ⁶ ⁷¹

Lissencephaly 4 with Microcephaly ⁵⁶ ⁷³

Microlissencephaly ⁷³ ⁷¹

Lis4 ⁵⁶ ⁷³

Lissencephaly, Type 4 ³⁹

Characteristics:

OMIM:

⁵⁶

Inheritance:
autosomal recessive

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

HPO:

³¹

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 Respiratory diseases Muscle diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁶ 614019

OMIM Phenotypic Series ⁵⁶ PS607432

MeSH ⁴³ D054082

MedGen ⁴¹ C3151461

SNOMED-CT via HPO ⁶⁸ 128613002 16026008 204036008 more

UMLS ⁷¹ C1956147 C3151461

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Summaries for Lissencephaly 4

OMIM : ⁵⁶ 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 : ⁷³ 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 47)

#	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	10.5
8	cerebellar hypoplasia	10.3
9	pachygyria	10.3
10	corpus callosum, agenesis of	10.2
11	alacrima, achalasia, and mental retardation syndrome	10.2
12	polymicrogyria with or without vascular-type ehlers-danlos syndrome	10.2
13	polymicrogyria	10.2
14	tubulinopathies	10.2
15	hypertelorism	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	roberts syndrome	10.0
20	ataxia and polyneuropathy, adult-onset	10.0
21	microhydranencephaly	10.0
22	tukel syndrome	10.0
23	lissencephaly 3	10.0
24	cortical dysplasia, complex, with other brain malformations 1	10.0
25	pontocerebellar hypoplasia, type 1b	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	neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity	10.0
30	distal arthrogryposis	10.0
31	baraitser-winter syndrome	10.0
32	pontocerebellar hypoplasia	10.0
33	primary autosomal recessive microcephaly	10.0
34	primary microcephaly	10.0
35	spinal muscular atrophy	10.0
36	hydranencephaly	10.0
37	muscular atrophy	10.0
38	baraitser-winter cerebrofrontofacial syndrome	10.0
39	dwarfism	10.0
40	hypotonia	10.0
41	spasticity	10.0
42	cerebellar malformation	10.0
43	congenital amyoplasia	10.0
44	rhombencephalosynapsis	10.0
45	chronic intestinal pseudoobstruction	9.5	NDE1 MYH11
46	aortic aneurysm, familial thoracic 4	9.4	NDE1 MYH11
47	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:

³¹ (show all 10)

#	Description	HPO Frequency	HPO Source Accession
1	seizures ³¹	frequent (33%)	HP:0001250
2	short stature ³¹	occasional (7.5%)	HP:0004322
3	hypertonia ³¹	occasional (7.5%)	HP:0001276
4	agenesis of corpus callosum ³¹		HP:0001274
5	global developmental delay ³¹		HP:0001263
6	microcephaly ³¹		HP:0000252
7	cerebellar hypoplasia ³¹		HP:0001321
8	lissencephaly ³¹		HP:0001339
9	intellectual disability, profound ³¹		HP:0002187
10	simplified gyral pattern ³¹		HP:0009879

Symptoms via clinical synopsis from OMIM:

⁵⁶

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:

⁴⁰

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]. ⁵⁶ ⁶	Alkuraya FS...Walsh CA	21529751	2011
2	The essential role of centrosomal NDE1 in human cerebral cortex neurogenesis. ⁵⁶ ⁶	Bakircioglu M...Woods CG	21529752	2011
3	Mitotic spindle regulation by Nde1 controls cerebral cortical size. ⁵⁶	Feng Y...Walsh CA	15473967	2004
4	The first quaternary diamond-like semiconductor with 10-membered LiS4 rings exhibiting excellent nonlinear optical performances. ⁶¹	Wu K...Pan S	28144643	2017
5	Actualities in hydrocephalus classification and management possibilities. ⁶¹	Mori K	10672591	2000
6	Classification of hydrocephalus and outcome of treatment. ⁶¹	Mori K...Watanabe K	8579221	1995
7	Lissencephaly gene (LIS1) expression in the CNS suggests a role in neuronal migration. ⁶¹	Reiner O...Caskey CT	7751941	1995
8	[Neuronal migration disorders: clinical-radiological correlation]. ⁶¹	Guillen D...Martinez V	8548642	1995
9	Biological rhythms in patients with lissencephaly (agyria-pachygyria). ⁶¹	Mori K...Kuroda Y	8214346	1993
10	[Neuronal migration anomalies. The magnetic resonance aspects of some types]. ⁶¹	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	1027.2	Molecular basis known ⁵⁶ Pathogenic ⁶ Genetic Tests ²⁹ GeneCards inferred via : Disorders Summaries Variants (show sections)	21529751 21529752
2	MYH11	Myosin Heavy Chain 11	Protein Coding	7.08	GeneCards inferred via : Variants (show sections)

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Variations for Lissencephaly 4

ClinVar genetic disease variations for Lissencephaly 4:

⁶ (show all 16) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	NDE1	NM_017668.3(NDE1):c.658C>T (p.Arg220Ter)	SNV	Pathogenic	159015	rs576928842	16:15785135-15785135	16:15691278-15691278
2	NDE1	NM_017668.3(NDE1):c.680_681AC[2] (p.Pro229fs)	short repeat	Pathogenic	30787	rs756206942	16:15785157-15785158	16:15691300-15691301
3	NDE1	NDE1, IVS2DS, G-T, +1	SNV	Pathogenic	30788
4	NDE1	NM_017668.3(NDE1):c.733dup (p.Leu245fs)	duplication	Pathogenic	30789	rs749768828	16:15788045-15788046	16:15694188-15694189
5	NDE1	NM_017668.3(NDE1):c.83+1G>T	SNV	Pathogenic	435939	rs1456594953	16:15758719-15758719	16:15664862-15664862
6	NDE1	GRCh37/hg19 16p13.11(chr16:15758011-15761384)	copy number loss	Pathogenic	625823		16:15758011-15761384
7	NDE1	NM_017668.3(NDE1):c.744G>A (p.Ala248=)	SNV	Conflicting interpretations of pathogenicity	159018	rs1123418	16:15788062-15788062	16:15694205-15694205
8	NDE1	NM_017668.3(NDE1):c.872C>T (p.Ser291Phe)	SNV	Uncertain significance	159020	rs146284370	16:15790642-15790642	16:15696785-15696785
9	MYH11 , NDE1	NM_002474.3(MYH11):c.4327G>A (p.Val1443Met)	SNV	Uncertain significance	159022	rs141262029	16:15818056-15818056	16:15724199-15724199
10	NDE1	NM_017668.3(NDE1):c.155C>T (p.Thr52Met)	SNV	Uncertain significance	211577	rs148118152	16:15761214-15761214	16:15667357-15667357
11	NDE1	NM_017668.3(NDE1):c.302C>T (p.Ala101Val)	SNV	Uncertain significance	287331	rs201587506	16:15771722-15771722	16:15677865-15677865
12	NDE1	NM_017668.3(NDE1):c.145G>T (p.Glu49Ter)	SNV	Uncertain significance	631746	rs1567627484	16:15761204-15761204	16:15667347-15667347
13	NDE1	NM_017668.3(NDE1):c.214C>T (p.Arg72Cys)	SNV	Uncertain significance	800855		16:15761273-15761273	16:15667416-15667416
14	NDE1	NM_017668.3(NDE1):c.701G>A (p.Arg234His)	SNV	Uncertain significance	435935	rs138255766	16:15785178-15785178	16:15691321-15691321
15	NDE1	NM_017668.3(NDE1):c.84-5T>C	SNV	Uncertain significance	159019	rs587783872	16:15761138-15761138	16:15667281-15667281
16	NDE1	NM_017668.3(NDE1):c.623C>T (p.Ala208Val)	SNV	Uncertain significance	159014	rs587783867	16:15785100-15785100	16:15691243-15691243

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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 ⁶⁵ Show member pathways RHO GTPase Effectors ⁶⁵	11.48	NDE1 MYH11

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GO Terms for Lissencephaly 4

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Sources for Lissencephaly 4

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³³ ICD10 via Orphanet

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³⁵ IUPHAR

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⁴⁰ MalaCards

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⁴³ MeSH

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⁴⁷ NCBI Bookshelf

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⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ 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