PMG
MCID: PLY024
MIFTS: 41

Polymicrogyria (PMG)

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Polymicrogyria

MalaCards integrated aliases for Polymicrogyria:

Name: Polymicrogyria 24 53 25 37 29 6 73
Pmg 25

Classifications:



External Ids:

KEGG 37 H00271
UMLS 73 C0266464

Summaries for Polymicrogyria

NIH Rare Diseases : 53 Polymicrogyria is a condition characterized by abnormal development of the brain before birth. Specifically, the surface of the brain develops too many folds which are unusually small. The signs and symptoms associated with the condition vary based on how much of the brain and which areas of the brain are affected; however, affected people may experience recurrent seizures (epilepsy); delayed development; crossed eyes; problems with speech and swallowing; and muscle weakness or paralysis. Bilateral forms (affecting both sides of the brain) tend to cause more severe neurological problems. Polymicrogyria can result from both genetic and environmental causes. It may occur as an isolated finding or as part of a syndrome. Treatment is based on the signs and symptoms present in each person.

MalaCards based summary : Polymicrogyria, also known as pmg, is related to megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 and polymicrogyria, bilateral perisylvian, x-linked. An important gene associated with Polymicrogyria is AKT3 (AKT Serine/Threonine Kinase 3), and among its related pathways/superpathways are Sertoli-Sertoli Cell Junction Dynamics and Human T-cell leukemia virus 1 infection. Affiliated tissues include brain, cortex and eye, and related phenotypes are behavior/neurological and growth/size/body region

Genetics Home Reference : 25 Polymicrogyria is a condition characterized by abnormal development of the brain before birth. The surface of the brain normally has many ridges or folds, called gyri. In people with polymicrogyria, the brain develops too many folds, and the folds are unusually small. The name of this condition literally means too many (poly-) small (micro-) folds (-gyria) in the surface of the brain.

Wikipedia : 76 Polymicrogyria (PMG) is a condition that affects the development of the human brain by multiple small... more...

GeneReviews: NBK1329

Related Diseases for Polymicrogyria

Diseases related to Polymicrogyria via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 130)
# Related Disease Score Top Affiliating Genes
1 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 33.7 AKT3 CCND2 PIK3R2
2 polymicrogyria, bilateral perisylvian, x-linked 33.7 ADGRG1 PI4KA
3 megalencephaly-capillary malformation-polymicrogyria syndrome 33.6 AKT3 PIK3R2
4 megalencephaly 30.5 AKT3 CCND2 PIK3R2
5 hydrocephalus 30.3 AKT3 CCND2 PIK3R2
6 polymicrogyria, bilateral frontoparietal 12.5
7 polymicrogyria, bilateral temporooccipital 12.5
8 polymicrogyria, bilateral perisylvian, autosomal recessive 12.4
9 bilateral generalized polymicrogyria 12.4
10 microcephaly, short stature, and polymicrogyria with or without seizures 12.4
11 bilateral frontal polymicrogyria 12.4
12 polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis 12.3
13 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 12.3
14 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 12.3
15 unilateral polymicrogyria 12.2
16 pseudo-torch syndrome 1 12.1
17 bilateral polymicrogyria 12.1
18 cortical dysplasia, complex, with other brain malformations 8 12.1
19 unilateral focal polymicrogyria 12.1
20 agyria pachygyria polymicrogyria 11.9
21 bilateral parasagittal parieto-occipital polymicrogyria 11.9
22 polymicrogyria turricephaly hypogenitalism 11.9
23 microcephaly-polymicrogyria-corpus callosum agenesis syndrome 11.9
24 unilateral hemispheric polymicrogyria 11.9
25 cortical dysplasia, complex, with other brain malformations 7 11.9
26 cortical malformations, occipital 11.6
27 muscular dystrophy-dystroglycanopathy , type a, 4 11.3
28 band heterotopia 11.3
29 congenital intrauterine infection-like syndrome 11.1
30 cortical dysplasia, complex, with other brain malformations 1 11.1
31 craniotelencephalic dysplasia 10.9
32 aicardi-goutieres syndrome 1 10.9
33 galloway-mowat syndrome 1 10.9
34 galloway-mowat syndrome 2, x-linked 10.9
35 aicardi syndrome 10.9
36 cortical dysplasia, complex, with other brain malformations 2 10.9
37 spinal muscular atrophy, lower extremity-predominant, 2, autosomal dominant 10.9
38 cortical dysplasia, complex, with other brain malformations 6 10.9
39 peho-like syndrome 10.9
40 galloway-mowat syndrome 3 10.9
41 galloway-mowat syndrome 4 10.9
42 galloway-mowat syndrome 5 10.9
43 complex cortical dysplasia with other brain malformations 10.9
44 neuronal migration disorders 10.9
45 epilepsy 10.6
46 polydactyly 10.3
47 pachygyria 10.2
48 schizencephaly 10.2
49 periventricular nodular heterotopia 10.2
50 microcephaly 10.1

Graphical network of the top 20 diseases related to Polymicrogyria:



Diseases related to Polymicrogyria

Symptoms & Phenotypes for Polymicrogyria

MGI Mouse Phenotypes related to Polymicrogyria:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.76 ADGRG1 AKT3 CCND2 EHMT1 FIG4 OCLN
2 growth/size/body region MP:0005378 9.56 AKT3 EHMT1 FIG4 OCLN PI4KA PIK3R2
3 nervous system MP:0003631 9.23 ADGRG1 AKT3 CCND2 EHMT1 FIG4 OCLN

Drugs & Therapeutics for Polymicrogyria

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Phenotypic and Genotypic Studies in Congenital and Early Onset Ataxias Completed NCT01488461
2 Epilepsy Phenome/Genome Project Completed NCT00552045
3 Brain Development Research Program Recruiting NCT00305305
4 Human Epilepsy Genetics--Neuronal Migration Disorders Study Recruiting NCT00041600

Search NIH Clinical Center for Polymicrogyria

Genetic Tests for Polymicrogyria

Genetic tests related to Polymicrogyria:

# Genetic test Affiliating Genes
1 Polymicrogyria 29

Anatomical Context for Polymicrogyria

MalaCards organs/tissues related to Polymicrogyria:

41
Brain, Cortex, Eye, Temporal Lobe, Pituitary, Pineal, Skeletal Muscle

Publications for Polymicrogyria

Articles related to Polymicrogyria:

(show top 50) (show all 330)
# Title Authors Year
1
A commentary on band-like calcification with simplified gyration and polymicrogyria: report of 10 new families and identification of five novel OCLN mutations. ( 29192239 )
2018
2
A novel mutation in LAMC3 associated with generalized polymicrogyria of the cortex and epilepsy. ( 29247375 )
2018
3
Commentary on "Megalencephaly-capillary malformation-polymicrogyria syndrome: the first case report in Korea". ( 29441111 )
2018
4
De novo mutations in GRIN1 cause extensive bilateral polymicrogyria. ( 29365063 )
2018
5
Reply to: "Recurrent SCN3A p.Ile875Thr variant in patients with polymicrogyria". ( 29740856 )
2018
6
Effectiveness of total corpus callosotomy for diffuse bilateral polymicrogyria: Report of three pediatric cases. ( 29622280 )
2018
7
Recurrent SCN3A p.Ile875Thr variant in patients with polymicrogyria. ( 29740860 )
2018
8
Assessing Corticospinal Tract Asymmetry in Unilateral Polymicrogyria. ( 29954815 )
2018
9
Three Mutations in the Bilateral Frontoparietal Polymicrogyria Gene <i>GPR56</i> in Pakistani Intellectual Disability Families. ( 29707406 )
2018
10
A Novel CCND2 Mutation in a Previously Reported Case of Megalencephaly and Perisylvian Polymicrogyria with Postaxial Polydactyly and Hydrocephalus. ( 29642246 )
2018
11
Personality Changes in Bilateral Superior Frontal and Parafalcine Frontoparietal Polymicrogyria: A Rare Case Report. ( 29962577 )
2018
12
Polymicrogyria in association with hypoglycemia points to mutation in the mTOR pathway. ( 29883676 )
2018
13
Epilepsy surgery for polymicrogyria: a challenge to be undertaken. ( 30378553 )
2018
14
The role of surgery in refractory epilepsy secondary to polymicrogyria in the pediatric population. ( 30203507 )
2018
15
Congenital pial AVF along the falx cerebri with complete agenesis of the corpus callosum and bilateral parasagittal pachygyria-polymicrogyria secondary to chronic ischemia. ( 30539296 )
2018
16
Recurrent RTTN mutation leading to severe microcephaly, polymicrogyria and growth restriction. ( 30121372 )
2018
17
AP4S1 splice-site mutation in a case of spastic paraplegia type 52 with polymicrogyria. ( 30283821 )
2018
18
Neonatal HCMV-related polymicrogyria in seroimmune women: What is the optimal pregnancy management? ( 30316173 )
2018
19
GPR56 homozygous nonsense mutation p.R271* associated with phenotypic variability in bilateral frontoparietal polymicrogyria. ( 30511534 )
2018
20
Stereoelectroencephalography and surgical outcome in polymicrogyria-related epilepsy: A multicentric study. ( 29059488 )
2017
21
Band-like calcification with simplified gyration and polymicrogyria: report of 10 new families and identification of five novel OCLN mutations. ( 28179633 )
2017
22
Polymicrogyria and Intractable Epilepsy in Siblings With Knobloch Syndrome and Homozygous Mutation of COL18A1. ( 28950998 )
2017
23
Familial craniofacial abnormality and polymicrogyria associated with a microdeletion affecting the NFIA gene. ( 28452798 )
2017
24
Prenatal and postnatal presentations of corpus callosum agenesis with polymicrogyria caused by EGP5 mutation. ( 28168853 )
2017
25
A novel missense mutation in the HECT domain of NEDD4L identified in a girl with periventricular nodular heterotopia, polymicrogyria and cleft palate. ( 28515470 )
2017
26
Knobloch syndrome associated with Polymicrogyria and early onset of retinal detachment: two case reports. ( 29178892 )
2017
27
Familial epilepsy with anterior polymicrogyria as a presentation of COL18A1 mutations. ( 28602933 )
2017
28
Clinical Neuropathology teaching case 2-2017: polymicrogyria in an adult with right-sided spastic hemiparesis. ( 28220750 )
2017
29
Prenatal and postnatal evaluation of polymicrogyria with band heterotopia. ( 28828134 )
2017
30
Comprehensive molecular screening strategy of OCLN in band-like calcification with simplified gyration and polymicrogyria. ( 28386946 )
2017
31
Hemispheric polymicrogyria and neonatal seizures: a potentially life-threatening combination. ( 28300030 )
2017
32
The pathology of incipient polymicrogyria. ( 27406708 )
2017
33
Synchronized purification and immobilization of his-tagged β-glucosidase via Fe3O4/PMG core/shell magnetic nanoparticles. ( 28134334 )
2017
34
Causality links among renewable energy consumption, CO2 emissions, and economic growth in Africa: evidence from a panel ARDL-PMG approach. ( 28382444 )
2017
35
Surgical treatment of polymicrogyria-related epilepsy. ( 27778326 )
2016
36
Surgical management of medically refractory epilepsy in patients with polymicrogyria. ( 26647903 )
2016
37
De novo PIK3R2 variant causes polymicrogyria, corpus callosum hyperplasia and focal cortical dysplasia. ( 26860062 )
2016
38
Bilateral perisylvian polymicrogyria: An interesting presentation of malformation of cortical development in an adult. ( 27625275 )
2016
39
Megalencephaly-capillary malformation-polymicrogyria syndrome: the first case report in Korea. ( 28018470 )
2016
40
Megalencephaly, polymicrogyria and ribbon-like band heterotopia: A new cortical malformation. ( 27381655 )
2016
41
Megalencephaly-capillary malformation polymicrogyria: A review and complex pediatric case report. ( 27216985 )
2016
42
Hemimegalencephaly with polymicrogyria - a case report. ( 27152083 )
2016
43
The syndrome of polymicrogyria, thalamic hypoplasia, and epilepsy with CSWS. ( 26944271 )
2016
44
Vigabatrin efficacy in GPR56-associated polymicrogyria: The role of GABAA receptor pathway. ( 27485378 )
2016
45
Second-Trimester Sonographic Diagnosis of Polymicrogyria. ( 27672235 )
2016
46
Renal dysfunction in sibs with band like calcification with simplified gyration and polymicrogyria: Report of a new mutation and review of literature. ( 26689621 )
2016
47
Visual sensory and ocular motor function in children with polymicrogyria: relationship to magnetic resonance imaging. ( 26917070 )
2016
48
The Role of Diffusion-Weighted Imaging in the Evaluation of the Whole Brain in Isolated Unilateral Polymicrogyria. ( 27625015 )
2016
49
Recurrent de novo BICD2 mutation associated with arthrogryposis multiplex congenita and bilateral perisylvian polymicrogyria. ( 27751653 )
2016
50
Polymicrogyria and myoclonic epilepsy in autosomal recessive cutis laxa type 2A. ( 27631729 )
2016

Variations for Polymicrogyria

ClinVar genetic disease variations for Polymicrogyria:

6 (show all 24)
# Gene Variation Type Significance SNP ID Assembly Location
1 AKT3 NM_005465.4(AKT3): c.1393C> T (p.Arg465Trp) single nucleotide variant Pathogenic/Likely pathogenic rs587776935 GRCh37 Chromosome 1, 243668598: 243668598
2 AKT3 NM_005465.4(AKT3): c.1393C> T (p.Arg465Trp) single nucleotide variant Pathogenic/Likely pathogenic rs587776935 GRCh38 Chromosome 1, 243505296: 243505296
3 LAMA2 NM_000426.3(LAMA2): c.5530C> A (p.Arg1844Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs56173620 GRCh37 Chromosome 6, 129722453: 129722453
4 LAMA2 NM_000426.3(LAMA2): c.5530C> A (p.Arg1844Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs56173620 GRCh38 Chromosome 6, 129401308: 129401308
5 BORCS5 NM_058169.5(BORCS5): c.203-1G> T single nucleotide variant Likely pathogenic rs1114167299 GRCh37 Chromosome 12, 12588561: 12588561
6 BORCS5 NM_058169.5(BORCS5): c.203-1G> T single nucleotide variant Likely pathogenic rs1114167299 GRCh38 Chromosome 12, 12435627: 12435627
7 LAMA2 NM_000426.3(LAMA2): c.5179G> C (p.Glu1727Gln) single nucleotide variant Uncertain significance rs374201203 GRCh37 Chromosome 6, 129712743: 129712743
8 LAMA2 NM_000426.3(LAMA2): c.5179G> C (p.Glu1727Gln) single nucleotide variant Uncertain significance rs374201203 GRCh38 Chromosome 6, 129391598: 129391598
9 SCN3A NM_006922.3(SCN3A): c.2624T> C (p.Ile875Thr) single nucleotide variant Likely pathogenic rs1057518801 GRCh37 Chromosome 2, 165986748: 165986748
10 SCN3A NM_006922.3(SCN3A): c.2624T> C (p.Ile875Thr) single nucleotide variant Likely pathogenic rs1057518801 GRCh38 Chromosome 2, 165130238: 165130238
11 EHMT1 NM_024757.4(EHMT1): c.2712+1G> A single nucleotide variant Pathogenic rs1057518849 GRCh37 Chromosome 9, 140695437: 140695437
12 EHMT1 NM_024757.4(EHMT1): c.2712+1G> A single nucleotide variant Pathogenic rs1057518849 GRCh38 Chromosome 9, 137800985: 137800985
13 ENTPD1 NM_001164178.1(ENTPD1): c.61G> A (p.Val21Met) single nucleotide variant Uncertain significance rs150772804 GRCh38 Chromosome 10, 95823245: 95823245
14 ENTPD1 NM_001164178.1(ENTPD1): c.61G> A (p.Val21Met) single nucleotide variant Uncertain significance rs150772804 GRCh37 Chromosome 10, 97583002: 97583002
15 DYNC1H1 NM_001376.4(DYNC1H1): c.1802T> A (p.Ile601Asn) single nucleotide variant Likely pathogenic rs1057518776 GRCh38 Chromosome 14, 101986027: 101986027
16 DYNC1H1 NM_001376.4(DYNC1H1): c.1802T> A (p.Ile601Asn) single nucleotide variant Likely pathogenic rs1057518776 GRCh37 Chromosome 14, 102452364: 102452364
17 LINGO4 NM_001004432.3(LINGO4): c.1262G> A (p.Arg421Gln) single nucleotide variant Uncertain significance rs143154971 GRCh37 Chromosome 1, 151773919: 151773919
18 LINGO4 NM_001004432.3(LINGO4): c.1262G> A (p.Arg421Gln) single nucleotide variant Uncertain significance rs143154971 GRCh38 Chromosome 1, 151801443: 151801443
19 LINGO4 NM_001004432.3(LINGO4): c.851C> T (p.Ser284Phe) single nucleotide variant Uncertain significance rs151205204 GRCh37 Chromosome 1, 151774330: 151774330
20 LINGO4 NM_001004432.3(LINGO4): c.851C> T (p.Ser284Phe) single nucleotide variant Uncertain significance rs151205204 GRCh38 Chromosome 1, 151801854: 151801854
21 LAMA5 NM_005560.4(LAMA5): c.10726G> A (p.Glu3576Lys) single nucleotide variant Uncertain significance rs139502000 GRCh37 Chromosome 20, 60885242: 60885242
22 LAMA5 NM_005560.4(LAMA5): c.10726G> A (p.Glu3576Lys) single nucleotide variant Uncertain significance rs139502000 GRCh38 Chromosome 20, 62310186: 62310186
23 LAMA5 NM_005560.4(LAMA5): c.7114G> A (p.Asp2372Asn) single nucleotide variant Uncertain significance rs111653839 GRCh37 Chromosome 20, 60893635: 60893635
24 LAMA5 NM_005560.4(LAMA5): c.7114G> A (p.Asp2372Asn) single nucleotide variant Uncertain significance rs111653839 GRCh38 Chromosome 20, 62318579: 62318579

Copy number variations for Polymicrogyria from CNVD:

7 (show all 18)
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 158161 21 30500000 46944323 Microdeletion AP001042.1 Polymicrogyria
2 158164 21 30500000 46944323 Microdeletion BRWD1 Polymicrogyria
3 158167 21 30500000 46944323 Microdeletion C21orf24 Polymicrogyria
4 158170 21 30500000 46944323 Microdeletion DSCR10 Polymicrogyria
5 158173 21 30500000 46944323 Microdeletion DSCR3 Polymicrogyria
6 158176 21 30500000 46944323 Microdeletion DSCR4 Polymicrogyria
7 158179 21 30500000 46944323 Microdeletion DSCR6 Polymicrogyria
8 158182 21 30500000 46944323 Microdeletion DSCR8 Polymicrogyria
9 158185 21 30500000 46944323 Microdeletion DSCR9 Polymicrogyria
10 158188 21 30500000 46944323 Microdeletion DYRK1A Polymicrogyria
11 158191 21 30500000 46944323 Microdeletion ERG Polymicrogyria
12 158194 21 30500000 46944323 Microdeletion ETS2 Polymicrogyria
13 158197 21 30500000 46944323 Microdeletion HLCS Polymicrogyria
14 158200 21 30500000 46944323 Microdeletion KCNJ15 Polymicrogyria
15 158203 21 30500000 46944323 Microdeletion KCNJ6 Polymicrogyria
16 158206 21 30500000 46944323 Microdeletion PIGP Polymicrogyria
17 158209 21 30500000 46944323 Microdeletion PSMG1 Polymicrogyria
18 158213 21 30500000 46944323 Microdeletion TTC3 Polymicrogyria

Expression for Polymicrogyria

Search GEO for disease gene expression data for Polymicrogyria.

Pathways for Polymicrogyria

Pathways related to Polymicrogyria according to GeneCards Suite gene sharing:

(show all 14)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.54 AKT3 OCLN PIK3R2 TUBA8
2 12.09 AKT3 CCND2 PIK3R2
3
Show member pathways
12.05 AKT3 CCND2 PIK3R2
4 11.91 AKT3 CCND2 PIK3R2
5
Show member pathways
11.9 AKT3 CCND2 PIK3R2
6
Show member pathways
11.84 FIG4 PI4KA PIK3R2
7 11.75 AKT3 CCND2 PIK3R2
8
Show member pathways
11.68 AKT3 EHMT1 PIK3R2
9
Show member pathways
11.57 AKT3 CCND2 PIK3R2
10 11.45 AKT3 OCLN PIK3R2
11 11.19 AKT3 CCND2 PIK3R2
12 11.17 AKT3 PIK3R2
13 11.02 CCND2 PIK3R2
14 10.76 AKT3 PI4KA PIK3R2

GO Terms for Polymicrogyria

Biological processes related to Polymicrogyria according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 phosphatidylinositol-mediated signaling GO:0048015 9.16 PI4KA PIK3R2
2 microtubule-based process GO:0007017 8.96 TUBA8 TUBB2B
3 mitotic cell cycle GO:0000278 8.8 CCND2 TUBA8 TUBB2B

Sources for Polymicrogyria

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....