lissencephaly

Summary
Definition
A congenital nervous system abnormality characterized by the absence of folds in the cerebral cortex and caused_by defective neuronal migration during the 12th to 24th weeks of gestation.
Super Class
congenital nervous system abnormality
Disease Ontology
DOID:0050453
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying entries 1 - 10 of 18 in total
Gene ID Gene Symbol Description Source
1020 CDK5 cyclin dependent kinase 5
1605 DAG1 dystroglycan 1
1778 DYNC1H1 dynein cytoplasmic 1 heavy chain 1
4842 NOS1 nitric oxide synthase 1
4843 NOS2 nitric oxide synthase 2
4846 NOS3 nitric oxide synthase 3
5048 PAFAH1B1 platelet activating factor acetylhydrolase 1b regulatory subunit 1
7277 TUBA4A tubulin alpha 4a
7846 TUBA1A tubulin alpha 1a
8941 CDK5R2 cyclin dependent kinase 5 regulatory subunit 2
Displaying entries 1 - 10 of 13 in total
Gene ID Gene Symbol Description Source
13138 Dag1 dystroglycan 1
13424 Dync1h1 dynein cytoplasmic 1 heavy chain 1
18127 Nos3 nitric oxide synthase 3, endothelial cell
22142 Tuba1a tubulin, alpha 1A
22143 Tuba1b tubulin, alpha 1B
22144 Tuba3a tubulin, alpha 3A
22145 Tuba4a tubulin, alpha 4A
22146 Tuba1c tubulin, alpha 1C
22147 Tuba3b tubulin, alpha 3B
53857 Tuba8 tubulin, alpha 8
Displaying all 7 entries
Gene ID Gene Symbol Description Source
24598 Nos1 nitric oxide synthase 1
24600 Nos3 nitric oxide synthase 3
29489 Dync1h1 dynein cytoplasmic 1 heavy chain 1
84430 Pomt1 protein-O-mannosyltransferase 1
140908 Cdk5 cyclin-dependent kinase 5
362567 Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
688673 Pomt2 protein-O-mannosyltransferase 2
Displaying all 3 entries
Gene ID Gene Symbol Description Source
31024 tw twisted
36773 Dg Dystroglycan
39297 rt rotated abdomen
Displaying all 3 entries
Gene ID Gene Symbol Description Source
563878 pomt2 protein-O-mannosyltransferase 2
569769 pomt1 protein-O-mannosyltransferase 1
571876 pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
Displaying all 7 entries
Gene ID Gene Symbol Description Source Organism
414570 pomgnt1.L protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) L homeolog Xenopus laevis (African clawed frog)
448433 pomt1 protein-O-mannosyltransferase 1 Xenopus tropicalis (tropical clawed frog)
495292 pomgnt1.S protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) S homeolog Xenopus laevis (African clawed frog)
100158594 pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) Xenopus tropicalis (tropical clawed frog)
100490100 pomt2 protein-O-mannosyltransferase 2 Xenopus tropicalis (tropical clawed frog)
108698684 pomt2.L protein-O-mannosyltransferase 2 L homeolog Xenopus laevis (African clawed frog)
108699937 pomt1.S protein-O-mannosyltransferase 1 S homeolog Xenopus laevis (African clawed frog)
Displaying all 4 entries
Gene ID Gene Symbol Description Source
851210 PMT2 dolichyl-phosphate-mannose-protein mannosyltransferase PMT2
853113 PMT6 dolichyl-phosphate-mannose-protein mannosyltransferase PMT6
853608 PMT4 dolichyl-phosphate-mannose-protein mannosyltransferase
854499 PMT3 dolichyl-phosphate-mannose-protein mannosyltransferase PMT3

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024