Lissencephaly 6 with Microcephaly disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Lissencephaly 6 with Microcephaly

MalaCards integrated aliases for Lissencephaly 6 with Microcephaly:

Name: Lissencephaly 6 with Microcephaly ⁵⁸

Lissencephaly 6, with Microcephaly ⁵⁸ ⁷⁶ ³⁰ ⁶ ⁷⁴

Lis6 ⁵⁸ ⁷⁶

Lissencephaly, Type 6, with Microcephaly ⁴¹

Characteristics:

OMIM:

⁵⁸

Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
variable neuroradiologic findings

HPO:

³³

lissencephaly 6 with microcephaly:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases
Anatomical: Neuronal diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁸ 616212

MeSH ⁴⁵ D054082

MedGen ⁴³ C4015525 CN225703

UMLS ⁷⁴ C4015525

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Summaries for Lissencephaly 6 with Microcephaly

OMIM : ⁵⁸ Lissencephaly-6 is an autosomal recessive neurodevelopmental disorder characterized by severe microcephaly and developmental delay. Brain imaging shows variable malformations of cortical development, including lissencephaly, pachygyria, and hypoplasia of the corpus callosum (summary by Mishra-Gorur et al., 2014). For a general description and a discussion of genetic heterogeneity of lissencephaly, see LIS1 (607432). (616212)

MalaCards based summary : Lissencephaly 6 with Microcephaly, is also known as lissencephaly 6, with microcephaly. An important gene associated with Lissencephaly 6 with Microcephaly is KATNB1 (Katanin Regulatory Subunit B1). Affiliated tissues include brain and cortex, and related phenotypes are seizures and spasticity

UniProtKB/Swiss-Prot : ⁷⁶ Lissencephaly 6, with microcephaly: A form of lissencephaly, a disorder of cortical development characterized by agyria or pachygyria and disorganization of the clear neuronal lamination of normal six-layered cortex. LIS6 features include hypoplasia of the corpus callosum, severe microcephaly and developmental delay.

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Related Diseases for Lissencephaly 6 with Microcephaly

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Symptoms & Phenotypes for Lissencephaly 6 with Microcephaly

Human phenotypes related to Lissencephaly 6 with Microcephaly:

³³ (show all 16)

#	Description	HPO Frequency	HPO Source Accession
1	seizures ³³	occasional (7.5%)	HP:0001250
2	spasticity ³³	occasional (7.5%)	HP:0001257
3	hyperreflexia ³³	occasional (7.5%)	HP:0001347
4	motor delay ³³	occasional (7.5%)	HP:0001270
5	limb hypertonia ³³	occasional (7.5%)	HP:0002509
6	global developmental delay ³³		HP:0001263
7	microcephaly ³³		HP:0000252
8	cognitive impairment ³³		HP:0100543
9	ventriculomegaly ³³		HP:0002119
10	pachygyria ³³		HP:0001302
11	partial agenesis of the corpus callosum ³³		HP:0001338
12	polymicrogyria ³³		HP:0002126
13	sloping forehead ³³		HP:0000340
14	hypoplasia of the corpus callosum ³³		HP:0002079
15	heterotopia ³³		HP:0002282
16	cortical gyral simplification ³³		HP:0009879

Symptoms via clinical synopsis from OMIM:

⁵⁸

Neurologic Central Nervous System:
cognitive impairment
pachygyria
partial agenesis of the corpus callosum
polymicrogyria
lissencephaly
more

Head And Neck Head:
microcephaly (up to -6 sd)

Head And Neck Face:
sloping forehead

Clinical features from OMIM:

616212

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Drugs & Therapeutics for Lissencephaly 6 with Microcephaly

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	Comparative Bioequivalence Study of Wockhardt's Insulin Analogue Mixture Listro Mix 75/25® and Humalog Mix75/25 ® in Healthy Subjects	Withdrawn	NCT01400802	Phase 1
2	Comparative Bioequivalence Study of Wockhardt's Insulin Analogue Listro Mix 50/50® and Humalog Mix50/50® in Healthy Subjects	Withdrawn	NCT01400789	Phase 1

Search NIH Clinical Center for Lissencephaly 6 with Microcephaly

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Genetic Tests for Lissencephaly 6 with Microcephaly

Genetic tests related to Lissencephaly 6 with Microcephaly:

#	Genetic test	Affiliating Genes
1	Lissencephaly 6, with Microcephaly ³⁰	KATNB1

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Anatomical Context for Lissencephaly 6 with Microcephaly

MalaCards organs/tissues related to Lissencephaly 6 with Microcephaly:

⁴²

Brain, Cortex

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Publications for Lissencephaly 6 with Microcephaly

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Genes for Lissencephaly 6 with Microcephaly

Genes related to Lissencephaly 6 with Microcephaly (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	KATNB1	Katanin Regulatory Subunit B1	Protein Coding	1328.01	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative variation ⁷⁶ Genetic Tests ³⁰ GeneCards inferred via : Disorders Variants (show sections)	25521378 25521379
2	LOC107984852	Uncharacterized LOC107984852	RNA Gene	7.48	GeneCards inferred via : Variants (show sections)

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Variations for Lissencephaly 6 with Microcephaly

UniProtKB/Swiss-Prot genetic disease variations for Lissencephaly 6 with Microcephaly:

⁷⁶

#	Symbol	AA change	Variation ID	SNP ID
1	KATNB1	p.Gly33Trp	VAR_073319	rs730880259
2	KATNB1	p.Ser535Leu	VAR_073320	rs730880257
3	KATNB1	p.Leu540Arg	VAR_073321	rs730880258

ClinVar genetic disease variations for Lissencephaly 6 with Microcephaly:

⁶ (show all 12)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	KATNB1	NM_005886.3(KATNB1): c.1604C> T (p.Ser535Leu)	single nucleotide variant	Pathogenic	rs730880257	GRCh38	Chromosome 16, 57755878: 57755878
2	KATNB1	NM_005886.3(KATNB1): c.1604C> T (p.Ser535Leu)	single nucleotide variant	Pathogenic	rs730880257	GRCh37	Chromosome 16, 57789790: 57789790
3	KATNB1	NM_005886.3(KATNB1): c.1619T> G (p.Leu540Arg)	single nucleotide variant	Pathogenic	rs730880258	GRCh38	Chromosome 16, 57755893: 57755893
4	KATNB1	NM_005886.3(KATNB1): c.1619T> G (p.Leu540Arg)	single nucleotide variant	Pathogenic	rs730880258	GRCh37	Chromosome 16, 57789805: 57789805
5	KATNB1	NM_005886.2(KATNB1): c.447delC (p.Val150Cysfs)	deletion	Pathogenic	rs879255517	GRCh37	Chromosome 16, 57785567: 57785567
6	KATNB1	NM_005886.2(KATNB1): c.447delC (p.Val150Cysfs)	deletion	Pathogenic	rs879255517	GRCh38	Chromosome 16, 57751655: 57751655
7	KATNB1	NM_005886.2(KATNB1): c.1A> G (p.Met1Val)	single nucleotide variant	Pathogenic	rs879255518	GRCh37	Chromosome 16, 57771156: 57771156
8	KATNB1	NM_005886.2(KATNB1): c.1A> G (p.Met1Val)	single nucleotide variant	Pathogenic	rs879255518	GRCh38	Chromosome 16, 57737244: 57737244
9	KATNB1	NM_005886.3(KATNB1): c.97G> T (p.Gly33Trp)	single nucleotide variant	Pathogenic	rs730880259	GRCh38	Chromosome 16, 57741743: 57741743
10	KATNB1	NM_005886.3(KATNB1): c.97G> T (p.Gly33Trp)	single nucleotide variant	Pathogenic	rs730880259	GRCh37	Chromosome 16, 57775655: 57775655
11	KATNB1	NM_005886.2(KATNB1): c.432+1G> A	single nucleotide variant	Pathogenic	rs879255519	GRCh37	Chromosome 16, 57785215: 57785215
12	KATNB1	NM_005886.2(KATNB1): c.432+1G> A	single nucleotide variant	Pathogenic	rs879255519	GRCh38	Chromosome 16, 57751303: 57751303

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Expression for Lissencephaly 6 with Microcephaly

Search GEO for disease gene expression data for Lissencephaly 6 with Microcephaly.

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Pathways for Lissencephaly 6 with Microcephaly

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GO Terms for Lissencephaly 6 with Microcephaly

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⁷² TGDB

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⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia

Lissencephaly 6 with Microcephaly (LIS6)

Aliases & Classifications for Lissencephaly 6 with Microcephaly

MalaCards integrated aliases for Lissencephaly 6 with Microcephaly:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Lissencephaly 6 with Microcephaly

Related Diseases for Lissencephaly 6 with Microcephaly

Symptoms & Phenotypes for Lissencephaly 6 with Microcephaly

Human phenotypes related to Lissencephaly 6 with Microcephaly:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Lissencephaly 6 with Microcephaly

Interventional clinical trials:

Genetic Tests for Lissencephaly 6 with Microcephaly

Genetic tests related to Lissencephaly 6 with Microcephaly:

Anatomical Context for Lissencephaly 6 with Microcephaly

MalaCards organs/tissues related to Lissencephaly 6 with Microcephaly:

Publications for Lissencephaly 6 with Microcephaly

Genes for Lissencephaly 6 with Microcephaly

Genes related to Lissencephaly 6 with Microcephaly (1 elite genes):

Variations for Lissencephaly 6 with Microcephaly

UniProtKB/Swiss-Prot genetic disease variations for Lissencephaly 6 with Microcephaly:

ClinVar genetic disease variations for Lissencephaly 6 with Microcephaly:

Expression for Lissencephaly 6 with Microcephaly

Pathways for Lissencephaly 6 with Microcephaly

GO Terms for Lissencephaly 6 with Microcephaly

Sources for Lissencephaly 6 with Microcephaly