PMG
MCID: PLY024
MIFTS: 35

Polymicrogyria (PMG) malady

Categories: Rare diseases, Genetic diseases

Aliases & Classifications for Polymicrogyria

Aliases & Descriptions for Polymicrogyria:

Name: Polymicrogyria 23 50 24 25 29 69
Pmg 25

Classifications:



Summaries for Polymicrogyria

NIH Rare Diseases : 50 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. last updated: 10/12/2015

MalaCards based summary : Polymicrogyria, also known as pmg, is related to polymicrogyria with optic nerve hypoplasia and band-like calcification with simplified gyration and polymicrogyria. An important gene associated with Polymicrogyria is EHMT1 (Euchromatic Histone Lysine Methyltransferase 1), and among its related pathways/superpathways are Development Slit-Robo signaling and Signaling in Gap Junctions. Affiliated tissues include brain, cortex and eye.

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 : 71 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 106)
id Related Disease Score Top Affiliating Genes
1 polymicrogyria with optic nerve hypoplasia 12.2
2 band-like calcification with simplified gyration and polymicrogyria 12.2
3 polymicrogyria, bilateral perisylvian 12.2
4 bilateral generalized polymicrogyria 12.1
5 polymicrogyria, bilateral frontoparietal 12.1
6 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 12.1
7 megalencephaly-capillary malformation-polymicrogyria syndrome, somatic 12.1
8 polymicrogyria, symmetric or asymmetric 12.1
9 bilateral frontal polymicrogyria 12.1
10 polymicrogyria, bilateral temporooccipital 12.1
11 polymicrogyria with seizures 12.1
12 polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis 12.1
13 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 12.1
14 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 12.1
15 unilateral polymicrogyria 11.9
16 mpph syndrome 11.9
17 microcephaly with polymicrogyria 11.8
18 bilateral polymicrogyria 11.8
19 unilateral focal polymicrogyria 11.8
20 polymicrogyria turricephaly hypogenitalism 11.7
21 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome, somatic 11.7
22 bilateral parasagittal parieto-occipital polymicrogyria 11.6
23 microcephaly-polymicrogyria-corpus callosum agenesis syndrome 11.6
24 unilateral hemispheric polymicrogyria 11.6
25 agyria pachygyria polymicrogyria 11.6
26 cortical malformations, occipital 11.4
27 megalencephaly 11.1
28 neuronal migration disorders 11.0
29 hemimegalencephaly 11.0
30 band heterotopia 11.0
31 cortical dysplasia, complex, with other brain malformations 1 10.8
32 congenital intrauterine infection-like syndrome 10.8
33 cortical dysplasia, complex, with other brain malformations 6 10.7
34 spinal muscular atrophy, lower extremity-predominant, 2, ad 10.7
35 cortical dysplasia, complex, with other brain malformations 2 10.7
36 muscular dystrophy-dystroglycanopathy , type a, 4 10.7
37 epilepsy 10.3
38 hydrocephalus 10.1
39 polydactyly 10.1
40 neurological consequences of cytomegalovirus infection 10.0 CCND2 PIK3R2
41 mitochondrial disorders 10.0 CCND2 PIK3R2
42 schizencephaly 9.9
43 y chromosome infertility 9.9 TUBA8 TUBB2B
44 neuronitis 9.9
45 pachygyria 9.9
46 status epilepticus 9.8
47 porencephaly 9.8
48 cerebritis 9.8
49 microcephaly 9.8
50 muscular dystrophy 9.8

Graphical network of the top 20 diseases related to Polymicrogyria:



Diseases related to Polymicrogyria

Symptoms & Phenotypes for Polymicrogyria

Drugs & Therapeutics for Polymicrogyria

Interventional clinical trials:


id Name Status NCT ID Phase
1 Epilepsy Phenome/Genome Project Unknown status NCT00552045
2 Phenotypic and Genotypic Studies in Congenital and Early Onset Ataxias Completed NCT01488461
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:

id Genetic test Affiliating Genes
1 Polymicrogyria 29 24 ADGRG1

Anatomical Context for Polymicrogyria

MalaCards organs/tissues related to Polymicrogyria:

39
Brain, Cortex, Eye, Temporal Lobe, Skeletal Muscle, Pituitary, Pineal

Publications for Polymicrogyria

Articles related to Polymicrogyria:

(show top 50) (show all 283)
id Title Authors Year
1
Band-like calcification with simplified gyration and polymicrogyria: report of 10 new families and identification of five novel OCLN mutations. ( 28179633 )
2017
2
Comprehensive molecular screening strategy of OCLN in band-like calcification with simplified gyration and polymicrogyria. ( 28386946 )
2017
3
Megalencephaly-capillary malformation-polymicrogyria syndrome: the first case report in Korea. ( 28018470 )
2016
4
Visual sensory and ocular motor function in children with polymicrogyria: relationship to magnetic resonance imaging. ( 26917070 )
2016
5
De novo PIK3R2 variant causes polymicrogyria, corpus callosum hyperplasia and focal cortical dysplasia. ( 26860062 )
2016
6
Bilateral perisylvian polymicrogyria: An interesting presentation of malformation of cortical development in an adult. ( 27625275 )
2016
7
Megalencephaly-capillary malformation polymicrogyria: A review and complex pediatric case report. ( 27216985 )
2016
8
Surgical management of medically refractory epilepsy in patients with polymicrogyria. ( 26647903 )
2016
9
The pathology of incipient polymicrogyria. ( 27406708 )
2016
10
Polymicrogyria and myoclonic epilepsy in autosomal recessive cutis laxa type 2A. ( 27631729 )
2016
11
The Role of Diffusion-Weighted Imaging in the Evaluation of the Whole Brain in Isolated Unilateral Polymicrogyria. ( 27625015 )
2016
12
Surgical treatment of polymicrogyria-related epilepsy. ( 27778326 )
2016
13
Renal dysfunction in sibs with band like calcification with simplified gyration and polymicrogyria: Report of a new mutation and review of literature. ( 26689621 )
2016
14
Hemimegalencephaly with polymicrogyria - a case report. ( 27152083 )
2016
15
Megalencephaly, polymicrogyria and ribbon-like band heterotopia: A new cortical malformation. ( 27381655 )
2016
16
Recurrent de novo BICD2 mutation associated with arthrogryposis multiplex congenita and bilateral perisylvian polymicrogyria. ( 27751653 )
2016
17
Second-Trimester Sonographic Diagnosis of Polymicrogyria. ( 27672235 )
2016
18
Vigabatrin efficacy in GPR56-associated polymicrogyria: The role of GABAA receptor pathway. ( 27485378 )
2016
19
The syndrome of polymicrogyria, thalamic hypoplasia, and epilepsy with CSWS. ( 26944271 )
2016
20
Bilateral Frontoparietal Polymicrogyria: A Novel GPR56 Mutation and an Unusual Phenotype. ( 25642806 )
2015
21
GPR56-Related Polymicrogyria: Clinicoradiologic Profile of 4 Patients. ( 25922261 )
2015
22
The histopathology of polymicrogyria: a series of 71 brain autopsy studies. ( 26179148 )
2015
23
Histopathology of Polymicrogyria. ( 26933543 )
2015
24
A de novo mutation in PRICKLE1 in fetal agenesis of the corpus callosum and polymicrogyria. ( 26727662 )
2015
25
Polymicrogyria: the common endpoint of many different aetiological processes. ( 26251133 )
2015
26
An autopsy case of refractory epilepsy due to unilateral polymicrogyria in a 65-year-old man: Histogenesis of four-layered polymicrogyric cortex. ( 26094545 )
2015
27
Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis. ( 25855803 )
2015
28
Venous pattern of polymicrogyria detected by susceptibility weighted imaging (SWI). ( 26668757 )
2015
29
Focal unilateral polymicrogyria and epilepsy surgery. ( 26112139 )
2015
30
Recessive Mutations in POLR3B Encoding RNA Polymerase III Subunit Causing Diffuse Hypomyelination in Patients with 4H Leukodystrophy with Polymicrogyria and Cataracts. ( 26478204 )
2015
31
Failure to Identify the Left Arcuate Fasciculus at Diffusion Tractography Is a Specific Marker of Language Dysfunction in Pediatric Patients with Polymicrogyria. ( 26180373 )
2015
32
Panhypopituitarism with Ectopic Posterior Pituitary Lobe, Heterotopia, Polymicrogyria, Corpus Callosum Dysgenesis, and Optic Chiasm/Nerve Hypoplasia: Is That an Undefined Neuronal Migration Syndrome? ( 25721080 )
2015
33
Polymicrogyria in a 10-month-old boy with Mowat-Wilson syndrome. ( 26012591 )
2015
34
PIK-ing the right gene for polymicrogyria. ( 26520803 )
2015
35
MEGALENCEPHALY, POLYMICROGYRIA, POLYDACTYLY AND HYDROCEPHALUS (MPPH) SYNDROME: A NEW CASE WITH OCCIPITAL ENCEPHALOCELE AND CLEFT PALATE. ( 26852507 )
2015
36
DTI-based tractography of the arcuate fasciculus in patients with polymicrogyria and language disorders. ( 26216794 )
2015
37
Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study. ( 26520804 )
2015
38
Bilateral frontoparietal polymicrogyria. ( 25416088 )
2015
39
Germline activating AKT3 mutation associated with megalencephaly, polymicrogyria, epilepsy and hypoglycemia. ( 25523067 )
2015
40
Pontine malformation, undecussated pyramidal tracts, and regional polymicrogyria: a new syndrome. ( 24507697 )
2014
41
Ultra-High-Field MR Imaging in Polymicrogyria and Epilepsy. ( 25258368 )
2014
42
Polymicrogyria, Large Corpus Callosum and Psychomotor Retardation in Four-Year-Old Girl: Potential Association Based on MR Findings. A Case Report and Literature Review. ( 25260206 )
2014
43
Whole genome sequencing identifies a novel occludin mutation in microcephaly with band-like calcification and polymicrogyria that extends the phenotypic spectrum. ( 24668585 )
2014
44
Isolated Microtia With Anterior Hemispheric Polymicrogyria. ( 25227517 )
2014
45
Polymicrogyria: a common and heterogeneous malformation of cortical development. ( 24888723 )
2014
46
Polymicrogyria: pathology, fetal origins and mechanisms. ( 25047116 )
2014
47
Altered white matter connectivity and network organization in polymicrogyria revealed by individual gyral topology-based analysis. ( 23954485 )
2014
48
Increased Expression of GAP43 in Interneurons in a Rat Model of Experimental Polymicrogyria. ( 25061039 )
2014
49
De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome. ( 24705253 )
2014
50
Role of the phosphoinositide phosphatase FIG4 gene in familial epilepsy with polymicrogyria. ( 24598713 )
2014

Variations for Polymicrogyria

ClinVar genetic disease variations for Polymicrogyria:

6
id 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 EHMT1 NM_024757.4(EHMT1): c.2712+1G> A single nucleotide variant Pathogenic rs1057518849 GRCh37 Chromosome 9, 140695437: 140695437

Copy number variations for Polymicrogyria from CNVD:

7 (show all 18)
id 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:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
11.82 OCLN TUBA8 TUBB2B
2
Show member pathways
11.53 PIK3R2 TUBA8 TUBB2B
3 10.17 CCND2 PIK3R2

GO Terms for Polymicrogyria

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

id Name GO ID Score Top Affiliating Genes
1 microtubule-based process GO:0007017 8.62 TUBA8 TUBB2B

Sources for Polymicrogyria

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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