LIS6
MCID: LSS044
MIFTS: 9

Lissencephaly 6 (LIS6)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Muscle diseases, Neuronal diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Lissencephaly 6

MalaCards integrated aliases for Lissencephaly 6:

Name: Lissencephaly 6 12
Lis6 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0112236

Summaries for Lissencephaly 6

Disease Ontology : 12 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. An important gene associated with Lissencephaly 6 is KATNB1 (Katanin Regulatory Subunit B1).

Related Diseases for Lissencephaly 6

Diseases in the Lissencephaly family:

Lissencephaly 2 Lissencephaly 1
Lissencephaly 3 Lissencephaly 4
Lissencephaly 5 Lissencephaly 8
Lissencephaly 10 Lissencephaly 6

Diseases related to Lissencephaly 6 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 lissencephaly 6 with microcephaly 11.6

Symptoms & Phenotypes for Lissencephaly 6

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. 61
15627950 2005
2
Cloning and structural analysis of the gene encoding the ribosomal protein S6 from the parasite Leishmania infantum. 61
9703947 1998
3
Serial EEG and sleep polygraphic studies on lissencephaly (agyria-pachygyria). 61
7892955 1994
4
[CT diagnosis of neuron migration anomalies]. 61
2758918 1989

Variations for Lissencephaly 6

Expression for Lissencephaly 6

Search GEO for disease gene expression data for Lissencephaly 6.

Pathways for Lissencephaly 6

GO Terms for Lissencephaly 6

Sources for Lissencephaly 6

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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