MCID: LSS039
MIFTS: 23

Lissencephaly 6 with Microcephaly

Categories: Genetic diseases

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:



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.

Related Diseases for Lissencephaly 6 with Microcephaly

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

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

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

Anatomical Context for Lissencephaly 6 with Microcephaly

MalaCards organs/tissues related to Lissencephaly 6 with Microcephaly:

41
Brain, Cortex

Publications for Lissencephaly 6 with Microcephaly

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

Expression for Lissencephaly 6 with Microcephaly

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

Pathways for Lissencephaly 6 with Microcephaly

GO Terms for Lissencephaly 6 with Microcephaly

Sources for Lissencephaly 6 with Microcephaly

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62 PubMed
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69 SNOMED-CT via HPO
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71 TGDB
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73 UMLS
74 UMLS via Orphanet
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