| H00271 | |
| H number | H00271 |
| Name | Polymicrogyria |
| Description | Polymicrogyria (PMG) is a malformation of cortical development characterized by an excessive number of small gyri with abnormal lamination. |
| Category | Congenital malformation |
| Network | - |
| Gene | (BFPP/BFPR) ADGRG1 [HSA:9289] [KO:K08450] (BTOP) FIG4 [HSA:9896] [KO:K22913] (PMGYCHA) PI4KA [HSA:5297] [KO:K00888] (PMGEDSV) COL3A1 [HSA:1281] [KO:K19720] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: LA05.50 ICD-10: Q04.8 MeSH: D054220 OMIM: 606854 615752 612691 616531 618343 |
| Reference | PMID:18262290 AUTHORS Guerrini R, Dobyns WB, Barkovich AJ TITLE Abnormal development of the human cerebral cortex: genetics, functional consequences and treatment options. JOURNAL Trends Neurosci 31:154-62 (2008) DOI:10.1016/j.tins.2007.12.004 PMID:15863665 (BFPP/ BFPR) AUTHORS Jansen A, Andermann E TITLE Genetics of the polymicrogyria syndromes. JOURNAL J Med Genet 42:369-78 (2005) DOI:10.1136/jmg.2004.023952 PMID:24598713 (BTOP) AUTHORS Baulac S, Lenk GM, Dufresnois B, Ouled Amar Bencheikh B, Couarch P, Renard J, Larson PA, Ferguson CJ, Noe E, Poirier K, Hubans C, Ferreira S, Guerrini R, Ouazzani R, El Hachimi KH, Meisler MH, Leguern E TITLE Role of the phosphoinositide phosphatase FIG4 gene in familial epilepsy with polymicrogyria. JOURNAL Neurology 82:1068-75 (2014) DOI:10.1212/WNL.0000000000000241 PMID:25855803 (PMGYCHA) AUTHORS Pagnamenta AT, Howard MF, Wisniewski E, Popitsch N, Knight SJ, Keays DA, Quaghebeur G, Cox H, Cox P, Balla T, Taylor JC, Kini U TITLE Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis. JOURNAL Hum Mol Genet 24:3732-41 (2015) DOI:10.1093/hmg/ddv117 PMID:28742248 (PMGEDSV) AUTHORS Horn D, Siebert E, Seidel U, Rost I, Mayer K, Abou Jamra R, Mitter D, Kornak U TITLE Biallelic COL3A1 mutations result in a clinical spectrum of specific structural brain anomalies and connective tissue abnormalities. JOURNAL Am J Med Genet A 173:2534-2538 (2017) DOI:10.1002/ajmg.a.38345 |