Details of Disease

General Information of Disease (ID: DISR8S3S)

Disease Name Classic lissencephaly
Synonyms ILS; lissencephaly classic; lissencephaly sequence isolated; lissencephaly type 1
Disease Hierarchy
DISBCZL7: Lissencephaly spectrum disorders
DISR8S3S: Classic lissencephaly
Disease Identifiers
MONDO ID
MONDO_0015146
MESH ID
D054221
UMLS CUI
C0431375
OMIM ID
607432
MedGen ID
98463
HPO ID
HP:0006818
Orphanet ID
102009
SNOMED CT ID
253147000

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
KIF5A TTCJPAH Limited Biomarker [1]
CHRNB2 TT5KPZR Definitive Biomarker [2]
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This Disease Is Related to 14 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ARX OTBGYH25 Limited Biomarker [3]
BICD2 OTVJ03NZ Limited Biomarker [4]
DYNC1I1 OTFX1KCG Limited Biomarker [5]
MAPRE1 OTCVQD60 Limited Biomarker [6]
NDE1 OT2N8Q17 Limited Biomarker [7]
NUMA1 OTTKAVG4 Limited Biomarker [8]
DCX OTISR7K3 moderate Biomarker [8]
DISC1 OT43AW4H Strong Biomarker [1]
KIF2A OT2WQ6QD Strong Genetic Variation [9]
MNT OTPC4ANL Strong Biomarker [10]
PAFAH1B1 OT9T2TCJ Strong Genetic Variation [11]
ADCY3 OTGOQM6B Definitive Biomarker [2]
CLCN4 OT4A2UWF Definitive Biomarker [2]
CLCN5 OT9YXZSO Definitive Biomarker [2]
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⏷ Show the Full List of 14 DOT(s)

References

1 Identification of YWHAE, a gene encoding 14-3-3epsilon, as a possible susceptibility gene for schizophrenia.Hum Mol Genet. 2008 Oct 15;17(20):3212-22. doi: 10.1093/hmg/ddn217. Epub 2008 Jul 24.
2 Gene Profiling of Nucleus Basalis Tau Containing Neurons in Chronic Traumatic Encephalopathy: A Chronic Effects of Neurotrauma Consortium Study.J Neurotrauma. 2018 Jun 1;35(11):1260-1271. doi: 10.1089/neu.2017.5368. Epub 2018 Apr 5.
3 Genotypically defined lissencephalies show distinct pathologies.J Neuropathol Exp Neurol. 2005 Oct;64(10):847-57. doi: 10.1097/01.jnen.0000182978.56612.41.
4 Combinatorial regulation of the balance between dynein microtubule end accumulation and initiation of directed motility.EMBO J. 2017 Nov 15;36(22):3387-3404. doi: 10.15252/embj.201797077. Epub 2017 Oct 16.
5 Dynein binds and stimulates axonal motility of the endosome adaptor and NEEP21 family member, calcyon.Int J Biochem Cell Biol. 2017 Sep;90:93-102. doi: 10.1016/j.biocel.2017.07.005. Epub 2017 Jul 19.
6 Lissencephaly-1 is a context-dependent regulator of the human dynein complex.Elife. 2017 Apr 13;6:e21768. doi: 10.7554/eLife.21768.
7 Mutations in cytoplasmic dynein and its regulators cause malformations of cortical development and neurodegenerative diseases.Biochem Soc Trans. 2013 Dec;41(6):1605-12. doi: 10.1042/BST20130188.
8 NuMA1 promotes axon initial segment assembly through inhibition of endocytosis.J Cell Biol. 2020 Feb 3;219(2):e201907048. doi: 10.1083/jcb.201907048.
9 Recurrent KIF2A mutations are responsible for classic lissencephaly.Neurogenetics. 2017 Apr;18(2):73-79. doi: 10.1007/s10048-016-0499-8. Epub 2016 Oct 17.
10 Loss of the Max-interacting protein Mnt in mice results in decreased viability, defective embryonic growth and craniofacial defects: relevance to Miller-Dieker syndrome.Hum Mol Genet. 2004 May 15;13(10):1057-67. doi: 10.1093/hmg/ddh116. Epub 2004 Mar 17.
11 Lis1 dysfunction leads to traction force reduction and cytoskeletal disorganization during cell migration.Biochem Biophys Res Commun. 2018 Mar 11;497(3):869-875. doi: 10.1016/j.bbrc.2018.02.151. Epub 2018 Feb 20.