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 ⁷⁵ ²⁹ ¹³ ⁶ ⁷³

Lissencephaly 4 with Microcephaly ⁵⁷ ⁷⁵

Microlissencephaly ⁷⁵ ⁷³

Lis4 ⁵⁷ ⁷⁵

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:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance

Classifications:

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

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 614019

MedGen ⁴² C3151461

MeSH ⁴⁴ D054082

SNOMED-CT via HPO ⁶⁹ 258211005 271611007 128613002 more

UMLS ⁷³ C3151461 C1956147

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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, cerebellum and cortex, and related phenotypes are microcephaly and seizures

UniProtKB/Swiss-Prot : ⁷⁵ 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 15)

#	Related Disease	Score	Top Affiliating Genes
1	microlissencephaly	12.4
2	microlissencephaly-micromelia syndrome	11.9
3	lissencephaly 2	11.7
4	cortical dysplasia, complex, with other brain malformations 7	11.3
5	lissencephaly	11.1
6	fetal akinesia deformation sequence	9.8
7	cerebellar hypoplasia	9.8
8	isolated growth hormone deficiency, type ia	9.8
9	roberts syndrome	9.8
10	neuronitis	9.8
11	tubulinopathies	9.8
12	dwarfism	9.8
13	pachygyria	9.8
14	aortic aneurysm, familial thoracic 4	9.2	MYH11 NDE1
15	aortic aneurysm, familial thoracic 6	9.0	MYH11 NDE1

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

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Symptoms & Phenotypes for Lissencephaly 4

Symptoms via clinical synopsis from OMIM:

⁵⁷

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

Human phenotypes related to Lissencephaly 4:

³² (show all 10)

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

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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 ²⁹	NDE1

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Anatomical Context for Lissencephaly 4

MalaCards organs/tissues related to Lissencephaly 4:

⁴¹

Brain, Cerebellum, Cortex

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Publications for Lissencephaly 4

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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	1036.96	Molecular basis known ⁵⁷ Pathogenic ⁶ Genetic Tests ²⁹ GeneCards inferred via : Disorders Summaries Variants (show sections)	21529752 21529751
2	MYH11	Myosin Heavy Chain 11	Protein Coding	17.2	GeneCards inferred via : Variants (show sections)

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Variations for Lissencephaly 4

ClinVar genetic disease variations for Lissencephaly 4:

⁶

(show all 17)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	NDE1	NDE1, 2-BP DEL, 684AC	deletion	Pathogenic
2	NDE1	NDE1, IVS2DS, G-T, +1	single nucleotide variant	Pathogenic
3	NDE1	NDE1, 1-BP DUP, 733C	duplication	Pathogenic
4	NDE1	NM_001143979.1(NDE1): c.84-5T> C	single nucleotide variant	Uncertain significance	rs587783872	GRCh37	Chromosome 16, 15761138: 15761138
5	NDE1	NM_001143979.1(NDE1): c.84-5T> C	single nucleotide variant	Uncertain significance	rs587783872	GRCh38	Chromosome 16, 15667281: 15667281
6	NDE1	NM_001143979.1(NDE1): c.623C> T (p.Ala208Val)	single nucleotide variant	Uncertain significance	rs587783867	GRCh37	Chromosome 16, 15785100: 15785100
7	NDE1	NM_001143979.1(NDE1): c.623C> T (p.Ala208Val)	single nucleotide variant	Uncertain significance	rs587783867	GRCh38	Chromosome 16, 15691243: 15691243
8	NDE1	NM_001143979.1(NDE1): c.658C> T (p.Arg220Ter)	single nucleotide variant	Pathogenic	rs576928842	GRCh37	Chromosome 16, 15785135: 15785135
9	NDE1	NM_001143979.1(NDE1): c.658C> T (p.Arg220Ter)	single nucleotide variant	Pathogenic	rs576928842	GRCh38	Chromosome 16, 15691278: 15691278
10	NDE1	NM_001143979.1(NDE1): c.744G> A (p.Ala248=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs1123418	GRCh37	Chromosome 16, 15788062: 15788062
11	NDE1	NM_001143979.1(NDE1): c.744G> A (p.Ala248=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs1123418	GRCh38	Chromosome 16, 15694205: 15694205
12	NDE1	NM_001143979.1(NDE1): c.872C> T (p.Ser291Phe)	single nucleotide variant	Uncertain significance	rs146284370	GRCh37	Chromosome 16, 15790642: 15790642
13	NDE1	NM_001143979.1(NDE1): c.872C> T (p.Ser291Phe)	single nucleotide variant	Uncertain significance	rs146284370	GRCh38	Chromosome 16, 15696785: 15696785
14	MYH11; NDE1	NM_001143979.1(NDE1): c.956C> T (p.Thr319Met)	single nucleotide variant	Uncertain significance	rs141262029	GRCh37	Chromosome 16, 15818056: 15818056
15	MYH11; NDE1	NM_001143979.1(NDE1): c.956C> T (p.Thr319Met)	single nucleotide variant	Uncertain significance	rs141262029	GRCh38	Chromosome 16, 15724199: 15724199
16	NDE1	NM_001143979.1(NDE1): c.83+1G> T	single nucleotide variant	Pathogenic		GRCh38	Chromosome 16, 15664862: 15664862
17	NDE1	NM_001143979.1(NDE1): c.83+1G> T	single nucleotide variant	Pathogenic		GRCh37	Chromosome 16, 15758719: 15758719

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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	MYH11 NDE1

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GO Terms for Lissencephaly 4

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

#	Name	GO ID	Score	Top Affiliating Genes
1	microtubule binding	GO:0008017	8.62	MYH11 NDE1

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Sources for Lissencephaly 4

¹ BioSystems

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⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia