LIS6
MCID: LSS039
MIFTS: 23

Lissencephaly 6 with Microcephaly (LIS6)

Categories: Genetic diseases, Neuronal diseases

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:



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 spasticity and hyperreflexia

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.

Related Diseases for Lissencephaly 6 with Microcephaly

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

Drugs & Therapeutics for Lissencephaly 6 with Microcephaly

Search Clinical Trials , 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:

40
Brain, Cortex

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. 6 56
25521378 2014
2
Katanin p80 regulates human cortical development by limiting centriole and cilia number. 6 56
25521379 2014
3
Electrophilic attack on sulfur-sulfur bonds: coordination of lithium cations to sulfur-rich molecules studied by ab initio MO methods. 61
15627950 2005
4
Cloning and structural analysis of the gene encoding the ribosomal protein S6 from the parasite Leishmania infantum. 61
9703947 1998

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>ASNV 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

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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