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 ⁵⁶

Lissencephaly 6, with Microcephaly ⁵⁶ ⁷³ ²⁹ ⁶ ⁷¹

Lis6 ⁵⁶ ⁷³

Lissencephaly, Type 6, with Microcephaly ³⁹

Characteristics:

OMIM:

⁵⁶

Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
variable neuroradiologic findings

HPO:

³¹

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

Classifications:

MalaCards categories:
Global: Genetic diseases
Anatomical: Neuronal diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁶ 616212

OMIM Phenotypic Series ⁵⁶ PS607432

MeSH ⁴³ D054082

MedGen ⁴¹ C4015525 CN225703

UMLS ⁷¹ C4015525

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Summaries for Lissencephaly 6 with Microcephaly

OMIM : ⁵⁶ 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 : ⁷³ 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:

³¹ (show all 17)

#	Description	HPO Frequency	HPO Source Accession
1	seizures ³¹	occasional (7.5%)	HP:0001250
2	spasticity ³¹	occasional (7.5%)	HP:0001257
3	hyperreflexia ³¹	occasional (7.5%)	HP:0001347
4	motor delay ³¹	occasional (7.5%)	HP:0001270
5	limb hypertonia ³¹	occasional (7.5%)	HP:0002509
6	global developmental delay ³¹		HP:0001263
7	microcephaly ³¹		HP:0000252
8	cognitive impairment ³¹		HP:0100543
9	sloping forehead ³¹		HP:0000340
10	ventriculomegaly ³¹		HP:0002119
11	hypoplasia of the corpus callosum ³¹		HP:0002079
12	polymicrogyria ³¹		HP:0002126
13	pachygyria ³¹		HP:0001302
14	partial agenesis of the corpus callosum ³¹		HP:0001338
15	simplified gyral pattern ³¹		HP:0009879
16	gray matter heterotopia ³¹		HP:0002282
17	microlissencephaly ³¹		HP:0045028

Symptoms via clinical synopsis from OMIM:

⁵⁶

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

Search Clinical Trials , 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:

⁴⁰

Brain, Cortex

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Publications for Lissencephaly 6 with Microcephaly

Articles related to Lissencephaly 6 with Microcephaly:

#	Title	Authors	PMID	Year
1	Mutations in KATNB1 cause complex cerebral malformations by disrupting asymmetrically dividing neural progenitors. ⁵⁶ ⁶	Mishra-Gorur K...Gunel M	25521378	2014
2	Katanin p80 regulates human cortical development by limiting centriole and cilia number. ⁵⁶ ⁶	Hu WF...Walsh CA	25521379	2014
3	Electrophilic attack on sulfur-sulfur bonds: coordination of lithium cations to sulfur-rich molecules studied by ab initio MO methods. ⁶¹	Steudel Y...Steudel R	15627950	2005
4	Cloning and structural analysis of the gene encoding the ribosomal protein S6 from the parasite Leishmania infantum. ⁶¹	Gonzalez-Aseguinolaza G...Larraga V	9703947	1998

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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	1317.92	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative variation ⁷³ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	25521378 25521379

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Variations for Lissencephaly 6 with Microcephaly

ClinVar genetic disease variations for Lissencephaly 6 with Microcephaly:

⁶ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	KATNB1	NM_005886.3(KATNB1):c.1604C>T (p.Ser535Leu)	SNV	Pathogenic	180636	rs730880257	16:57789790-57789790	16:57755878-57755878
2	KATNB1	NM_005886.3(KATNB1):c.1619T>G (p.Leu540Arg)	SNV	Pathogenic	180637	rs730880258	16:57789805-57789805	16:57755893-57755893
3	KATNB1	NM_005886.3(KATNB1):c.447del (p.Val150fs)	deletion	Pathogenic	180638	rs879255517	16:57785566-57785566	16:57751654-57751654
4	KATNB1	NM_005886.3(KATNB1):c.1A>G (p.Met1Val)	SNV	Pathogenic	180639	rs879255518	16:57771156-57771156	16:57737244-57737244
5	KATNB1	NM_005886.3(KATNB1):c.97G>T (p.Gly33Trp)	SNV	Pathogenic	180640	rs730880259	16:57775655-57775655	16:57741743-57741743
6	KATNB1	NM_005886.3(KATNB1):c.432+1G>A	SNV	Pathogenic	180641	rs879255519	16:57785215-57785215	16:57751303-57751303

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

⁷³

#	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

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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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⁶⁹ TGDB

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⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ 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

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

Articles related to 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

ClinVar genetic disease variations for Lissencephaly 6 with Microcephaly:

UniProtKB/Swiss-Prot 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