Details of Disease | DrugMAP

General Information of Disease (ID: DIS56826)

Disease Name	Cobblestone lissencephaly
Synonyms	lissencephaly type 2
Definition	Cobblestone lissencephaly is a rare central nervous system malformation which includes a group of diseases that are characterized by a bumpy (or pebbled) appearance of the cerebral cortex, associated with a thickened cortex, reduction in normal sulcation, ventriculomegaly and reduced, abnormal white matter, as well as brainstem and cerebellum hypoplasia and corpus callosum agenesis. Patients generally present variable degrees of developmental delay, hypotonia and ocular abnomalities, however muscular and ocular involvement may be absent.
Disease Hierarchy	DISBCZL7: Lissencephaly spectrum disorders DIS56826: Cobblestone lissencephaly
Disease Identifiers	MONDO ID MONDO_0018869 MESH ID D054222 UMLS CUI C0431376 MedGen ID 96562 HPO ID HP:0007260 Orphanet ID 51577 SNOMED CT ID 253149002

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
RIC8A	TTDFTJG	Limited	Biomarker	[1]
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This Disease Is Related to 9 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CRPPA	OTC85K8Q	moderate	Genetic Variation	[2]
RXYLT1	OTQTO7VU	moderate	Genetic Variation	[2]
TMTC3	OTMTTDYG	moderate	Biomarker	[3]
ADGRG1	OTQBB8NT	Strong	Genetic Variation	[4]
FKRP	OTMUZ7GH	Strong	Genetic Variation	[5]
FKTN	OTQ9GCXL	Strong	Genetic Variation	[6]
POMT1	OTGQSHL5	Strong	Genetic Variation	[5]
POMT2	OTO1ZQZX	Strong	Genetic Variation	[5]
TPR	OTUBBA4W	Strong	Genetic Variation	[7]
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⏷ Show the Full List of 9 DOT(s)

References

1	Targeted deletion of RIC8A in mouse neural precursor cells interferes with the development of the brain, eyes, and muscles.Dev Neurobiol. 2018 Apr;78(4):374-390. doi: 10.1002/dneu.22578. Epub 2018 Feb 2.
2	Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly. Am J Hum Genet. 2012 Dec 7;91(6):1135-43. doi: 10.1016/j.ajhg.2012.10.009.
3	Endoplasmic reticulum transmembrane protein TMTC3 contributes to O-mannosylation of E-cadherin, cellular adherence, and embryonic gastrulation.Mol Biol Cell. 2020 Feb 1;31(3):167-183. doi: 10.1091/mbc.E19-07-0408. Epub 2019 Dec 18.
4	G protein-coupled receptor 56 and collagen III, a receptor-ligand pair, regulates cortical development and lamination.Proc Natl Acad Sci U S A. 2011 Aug 2;108(31):12925-30. doi: 10.1073/pnas.1104821108. Epub 2011 Jul 18.
5	Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies.Brain. 2012 Feb;135(Pt 2):469-82. doi: 10.1093/brain/awr357. Epub 2012 Feb 9.
6	Fukutin mutations in non-Japanese patients with congenital muscular dystrophy: less severe mutations predominate in patients with a non-Walker-Warburg phenotype.Neuromuscul Disord. 2011 Jan;21(1):20-30. doi: 10.1016/j.nmd.2010.08.007. Epub 2010 Oct 18.
7	Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone Lissencephaly.Am J Hum Genet. 2016 Nov 3;99(5):1181-1189. doi: 10.1016/j.ajhg.2016.09.007. Epub 2016 Oct 20.