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 ⁵⁷

Lissencephaly 6, with Microcephaly ⁵⁷ ⁷⁵ ²⁹ ⁶ ⁷³

Lis6 ⁵⁷ ⁷⁵

Lissencephaly, Type 6, with Microcephaly ⁴⁰

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
variable neuroradiologic findings

HPO:

³²

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

Classifications:

MalaCards categories:
Global: Genetic diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 616212

MedGen ⁴² C4015525 CN225703

MeSH ⁴⁴ D054082

SNOMED-CT via HPO ⁶⁹ 258211005 271611007 128613002 more

UMLS ⁷³ C4015525

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Summaries for Lissencephaly 6 with Microcephaly

OMIM : ⁵⁷ 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 : ⁷⁵ 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

Symptoms via clinical synopsis from OMIM:

⁵⁷

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

Human phenotypes related to Lissencephaly 6 with Microcephaly:

³² (show all 15)

#	Description	HPO Frequency	HPO Source Accession
1	seizures ³²	occasional (7.5%)	HP:0001250
2	spasticity ³²	occasional (7.5%)	HP:0001257
3	hyperreflexia ³²	occasional (7.5%)	HP:0001347
4	global developmental delay ³²		HP:0001263
5	microcephaly ³²		HP:0000252
6	cognitive impairment ³²		HP:0100543
7	ventriculomegaly ³²		HP:0002119
8	pachygyria ³²		HP:0001302
9	partial agenesis of the corpus callosum ³²		HP:0001338
10	polymicrogyria ³²		HP:0002126
11	sloping forehead ³²		HP:0000340
12	motor delay ³²	occasional (7.5%)	HP:0001270
13	hypoplasia of the corpus callosum ³²		HP:0002079
14	limb hypertonia ³²	occasional (7.5%)	HP:0002509
15	cortical gyral simplification ³²		HP:0009879

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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 ²⁹	KATNB1

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Anatomical Context for Lissencephaly 6 with Microcephaly

MalaCards organs/tissues related to Lissencephaly 6 with Microcephaly:

⁴¹

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	1328.19	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	25521378 25521379
2	LOC107984852	Uncharacterized LOC107984852	RNA Gene	7.57	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:

⁷⁵

#	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_005886.2(KATNB1): c.1604C> T (p.Ser535Leu)	single nucleotide variant	Pathogenic	rs730880257	GRCh38	Chromosome 16, 57755878: 57755878
2	KATNB1	NM_005886.2(KATNB1): c.1604C> T (p.Ser535Leu)	single nucleotide variant	Pathogenic	rs730880257	GRCh37	Chromosome 16, 57789790: 57789790
3	KATNB1	NM_005886.2(KATNB1): c.1619T> G (p.Leu540Arg)	single nucleotide variant	Pathogenic	rs730880258	GRCh38	Chromosome 16, 57755893: 57755893
4	KATNB1	NM_005886.2(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_005886.2(KATNB1): c.97G> T (p.Gly33Trp)	single nucleotide variant	Pathogenic	rs730880259	GRCh38	Chromosome 16, 57741743: 57741743
10	KATNB1	NM_005886.2(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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Sources for Lissencephaly 6 with Microcephaly

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⁷⁶ Wikipedia