KEGG DISEASE: Polymicrogyria

KEGG

DISEASE: Polymicrogyria

Entry

H00271                      Disease

Name

Polymicrogyria

Subgroup

Bilateral frontoparietal polymicrogyria (BFPP/CDCBM14A)
Bilateral perisylvian polymicrogyria, autosomal recessive (BPPR/CDCBM14B)
Bilateral temporooccipital polymicrogyria (BTOP)
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis (PMGYCHA)
Polymicrogyria with or without vascular-type EDS (PMGEDSV)

Supergrp

Neuronal migration disorder [DS:H01835]

Description

Polymicrogyria (PMG) is a malformation of cortical development characterized by an excessive number of small gyri with abnormal lamination.

Category

Congenital malformation

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  Structural developmental anomalies primarily affecting one body system
   Structural developmental anomalies of the nervous system
    LA05  Cerebral structural developmental anomalies
     H00271  Polymicrogyria
Pathway-based classification of diseases [BR:br08402]
Cellular processes
  nt06551  Lysosome
   H00271  Polymicrogyria
  nt06539  Cytoskeleton in muscle cells
   H00271  Polymicrogyria

Pathway

Cytoskeleton in muscle cells

Inositol phosphate metabolism

Network

nt06539 Cytoskeleton in muscle cells
nt06551 Lysosome

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]

Comment

BFPP and BFPR are also known as complex cortical dysplasia with other brain malformations (CDCBM14A/14B). Please refer to the entry of CDCBM [DS:H01881].

Other DBs

ICD-11:

MeSH:

OMIM:

612691 616531 618343

Reference

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

Reference

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

Reference

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

Reference

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

Reference

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

LinkDB

» Japanese version

DBGET integrated database retrieval system