LIS6
MCID: LSS044
MIFTS: 18

Lissencephaly 6 (LIS6)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Muscle diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Lissencephaly 6

MalaCards integrated aliases for Lissencephaly 6:

Name: Lissencephaly 6 11 14
Lis6 11

Classifications:



External Ids:

Disease Ontology 11 DOID:0112236

Summaries for Lissencephaly 6

Disease Ontology: 11 A microlissencephaly characterized by severe microcephaly, developmental delay, lissencephaly, pachygyria, and hypoplasia of the corpus callosum that has material basis in homozygous or compound heterozygous mutation in KATNB1 on chromosome 16q21.

MalaCards based summary: Lissencephaly 6, also known as lis6, is related to lissencephaly 6 with microcephaly and alternating hemiplegia of childhood. An important gene associated with Lissencephaly 6 is KATNB1 (Katanin Regulatory Subunit B1), and among its related pathways/superpathways is Ciliopathies. Related phenotype is limbs/digits/tail.

Related Diseases for Lissencephaly 6

Graphical network of the top 20 diseases related to Lissencephaly 6:



Diseases related to Lissencephaly 6

Symptoms & Phenotypes for Lissencephaly 6

MGI Mouse Phenotypes related to Lissencephaly 6:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 8.92 ERCC6 INTU KATNB1 WDPCP

Drugs & Therapeutics for Lissencephaly 6

Search Clinical Trials, NIH Clinical Center for Lissencephaly 6

Genetic Tests for Lissencephaly 6

Anatomical Context for Lissencephaly 6

Publications for Lissencephaly 6

Articles related to Lissencephaly 6:

# Title Authors PMID Year
1
Electrophilic attack on sulfur-sulfur bonds: coordination of lithium cations to sulfur-rich molecules studied by ab initio MO methods. 62
15627950 2005
2
Cloning and structural analysis of the gene encoding the ribosomal protein S6 from the parasite Leishmania infantum. 62
9703947 1998
3
Serial EEG and sleep polygraphic studies on lissencephaly (agyria-pachygyria). 62
7892955 1994
4
[CT diagnosis of neuron migration anomalies]. 62
2758918 1989

Variations for Lissencephaly 6

Expression for Lissencephaly 6

Search GEO for disease gene expression data for Lissencephaly 6.

Pathways for Lissencephaly 6

Pathways related to Lissencephaly 6 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.67 WDPCP INTU

GO Terms for Lissencephaly 6

Biological processes related to Lissencephaly 6 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 embryonic digit morphogenesis GO:0042733 9.71 WDPCP INTU
2 neural tube development GO:0021915 9.67 WDPCP INTU
3 nervous system development GO:0007399 9.63 ZSWIM6 WDPCP INTU ERCC6
4 regulation of cilium assembly GO:1902017 9.62 WDPCP INTU
5 intraciliary transport GO:0042073 9.56 WDPCP INTU
6 establishment of planar polarity GO:0001736 9.26 WDPCP INTU
7 tongue morphogenesis GO:0043587 8.92 WDPCP INTU

Sources for Lissencephaly 6

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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