Aliases & Classifications for Polymicrogyria

MalaCards integrated aliases for Polymicrogyria:

Name: Polymicrogyria 23 49 24 36 28 69
Pmg 24

Classifications:



External Ids:

KEGG 36 H00271
UMLS 69 C0266464

Summaries for Polymicrogyria

NIH Rare Diseases : 49 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 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 and megalencephaly. An important gene associated with Polymicrogyria is EHMT1 (Euchromatic Histone Lysine Methyltransferase 1), and among its related pathways/superpathways are Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding and DNA Damage Response (only ATM dependent). Affiliated tissues include brain, eye and cortex.

Genetics Home Reference : 24 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.

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 132)
# Related Disease Score Top Affiliating Genes
1 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 33.3 CCND2 PIK3R2
2 megalencephaly 29.8 CCND2 PIK3R2
3 megalencephaly-capillary malformation-polymicrogyria syndrome 12.4
4 polymicrogyria, bilateral temporooccipital 12.4
5 polymicrogyria, bilateral frontoparietal 12.4
6 polymicrogyria, bilateral perisylvian, x-linked 12.3
7 bilateral generalized polymicrogyria 12.2
8 polymicrogyria, bilateral perisylvian, autosomal recessive 12.2
9 bilateral frontal polymicrogyria 12.2
10 microcephaly, short stature, and polymicrogyria with or without seizures 12.2
11 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 12.2
12 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 12.2
13 polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis 12.2
14 unilateral polymicrogyria 12.0
15 bilateral parasagittal parieto-occipital polymicrogyria 12.0
16 bilateral polymicrogyria 11.9
17 unilateral focal polymicrogyria 11.9
18 cortical dysplasia, complex, with other brain malformations 7 11.9
19 cortical dysplasia, complex, with other brain malformations 8 11.9
20 agyria pachygyria polymicrogyria 11.8
21 polymicrogyria turricephaly hypogenitalism 11.8
22 microcephaly-polymicrogyria-corpus callosum agenesis syndrome 11.8
23 unilateral hemispheric polymicrogyria 11.8
24 pseudo-torch syndrome 1 11.7
25 cortical malformations, occipital 11.5
26 muscular dystrophy-dystroglycanopathy , type a, 4 11.1
27 band heterotopia 11.1
28 neuronal migration disorders 11.1
29 congenital intrauterine infection-like syndrome 10.9
30 cortical dysplasia, complex, with other brain malformations 1 10.9
31 aicardi-goutieres syndrome 1 10.8
32 galloway-mowat syndrome 2, x-linked 10.8
33 aicardi syndrome 10.8
34 cortical dysplasia, complex, with other brain malformations 2 10.8
35 spinal muscular atrophy, lower extremity-predominant, 2, autosomal dominant 10.8
36 cortical dysplasia, complex, with other brain malformations 6 10.8
37 peho-like syndrome 10.8
38 galloway-mowat syndrome 3 10.8
39 galloway-mowat syndrome 4 10.8
40 galloway-mowat syndrome 5 10.8
41 complex cortical dysplasia with other brain malformations 10.8
42 epilepsy 10.4
43 macrocephaly/megalencephaly syndrome, autosomal recessive 10.3
44 hydrocephalus 10.2
45 polydactyly 10.2
46 schizencephaly 10.0
47 arthrogryposis multiplex congenita, neurogenic, with myelin defect 10.0
48 periventricular nodular heterotopia 10.0
49 neuronitis 10.0
50 pachygyria 10.0

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:


# Name Status NCT ID Phase Drugs
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:

# Genetic test Affiliating Genes
1 Polymicrogyria 28

Anatomical Context for Polymicrogyria

MalaCards organs/tissues related to Polymicrogyria:

38
Brain, Eye, Cortex, Temporal Lobe, Pituitary, Skeletal Muscle, Pineal

Publications for Polymicrogyria

Articles related to Polymicrogyria:

(show top 50) (show all 297)
# Title Authors Year
1
A novel mutation in LAMC3 associated with generalized polymicrogyria of the cortex and epilepsy. ( 29247375 )
2018
2
Commentary on "Megalencephaly-capillary malformation-polymicrogyria syndrome: the first case report in Korea". ( 29441111 )
2018
3
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
4
De novo mutations in GRIN1 cause extensive bilateral polymicrogyria. ( 29365063 )
2018
5
Familial craniofacial abnormality and polymicrogyria associated with a microdeletion affecting the NFIA gene. ( 28452798 )
2017
6
Stereoelectroencephalography and surgical outcome in polymicrogyria-related epilepsy: A multicentric study. ( 29059488 )
2017
7
Band-like calcification with simplified gyration and polymicrogyria: report of 10 new families and identification of five novel OCLN mutations. ( 28179633 )
2017
8
Prenatal and postnatal evaluation of polymicrogyria with band heterotopia. ( 28828134 )
2017
9
Comprehensive molecular screening strategy of OCLN in band-like calcification with simplified gyration and polymicrogyria. ( 28386946 )
2017
10
A novel missense mutation in the HECT domain of NEDD4L identified in a girl with periventricular nodular heterotopia, polymicrogyria and cleft palate. ( 28515470 )
2017
11
Polymicrogyria and Intractable Epilepsy in Siblings With Knobloch Syndrome and Homozygous Mutation of COL18A1. ( 28950998 )
2017
12
Familial epilepsy with anterior polymicrogyria as a presentation of COL18A1 mutations. ( 28602933 )
2017
13
Prenatal and postnatal presentations of corpus callosum agenesis with polymicrogyria caused by EGP5 mutation. ( 28168853 )
2017
14
Clinical Neuropathology teaching case 2-2017: polymicrogyria in an adult with right-sided spastic hemiparesis. ( 28220750 )
2017
15
Knobloch syndrome associated with Polymicrogyria and early onset of retinal detachment: two case reports. ( 29178892 )
2017
16
Hemispheric polymicrogyria and neonatal seizures: a potentially life-threatening combination. ( 28300030 )
2017
17
The Role of Diffusion-Weighted Imaging in the Evaluation of the Whole Brain in Isolated Unilateral Polymicrogyria. ( 27625015 )
2016
18
Megalencephaly-capillary malformation polymicrogyria: A review and complex pediatric case report. ( 27216985 )
2016
19
Recurrent de novo BICD2 mutation associated with arthrogryposis multiplex congenita and bilateral perisylvian polymicrogyria. ( 27751653 )
2016
20
Megalencephaly-capillary malformation-polymicrogyria syndrome: the first case report in Korea. ( 28018470 )
2016
21
Polymicrogyria and myoclonic epilepsy in autosomal recessive cutis laxa type 2A. ( 27631729 )
2016
22
Surgical management of medically refractory epilepsy in patients with polymicrogyria. ( 26647903 )
2016
23
Surgical treatment of polymicrogyria-related epilepsy. ( 27778326 )
2016
24
Vigabatrin efficacy in GPR56-associated polymicrogyria: The role of GABAA receptor pathway. ( 27485378 )
2016
25
The syndrome of polymicrogyria, thalamic hypoplasia, and epilepsy with CSWS. ( 26944271 )
2016
26
Bilateral perisylvian polymicrogyria: An interesting presentation of malformation of cortical development in an adult. ( 27625275 )
2016
27
Hemimegalencephaly with polymicrogyria - a case report. ( 27152083 )
2016
28
Megalencephaly, polymicrogyria and ribbon-like band heterotopia: A new cortical malformation. ( 27381655 )
2016
29
De novo PIK3R2 variant causes polymicrogyria, corpus callosum hyperplasia and focal cortical dysplasia. ( 26860062 )
2016
30
The pathology of incipient polymicrogyria. ( 27406708 )
2016
31
Second-Trimester Sonographic Diagnosis of Polymicrogyria. ( 27672235 )
2016
32
Visual sensory and ocular motor function in children with polymicrogyria: relationship to magnetic resonance imaging. ( 26917070 )
2016
33
Renal dysfunction in sibs with band like calcification with simplified gyration and polymicrogyria: Report of a new mutation and review of literature. ( 26689621 )
2016
34
Polymicrogyria: the common endpoint of many different aetiological processes. ( 26251133 )
2015
35
Failure to Identify the Left Arcuate Fasciculus at Diffusion Tractography Is a Specific Marker of Language Dysfunction in Pediatric Patients with Polymicrogyria. ( 26180373 )
2015
36
Focal unilateral polymicrogyria and epilepsy surgery. ( 26112139 )
2015
37
An autopsy case of refractory epilepsy due to unilateral polymicrogyria in a 65-year-old man: Histogenesis of four-layered polymicrogyric cortex. ( 26094545 )
2015
38
Bilateral Frontoparietal Polymicrogyria: A Novel GPR56 Mutation and an Unusual Phenotype. ( 25642806 )
2015
39
Bilateral frontoparietal polymicrogyria. ( 25416088 )
2015
40
The histopathology of polymicrogyria: a series of 71 brain autopsy studies. ( 26179148 )
2015
41
Germline activating AKT3 mutation associated with megalencephaly, polymicrogyria, epilepsy and hypoglycemia. ( 25523067 )
2015
42
A de novo mutation in PRICKLE1 in fetal agenesis of the corpus callosum and polymicrogyria. ( 26727662 )
2015
43
PIK-ing the right gene for polymicrogyria. ( 26520803 )
2015
44
Polymicrogyria in a 10-month-old boy with Mowat-Wilson syndrome. ( 26012591 )
2015
45
GPR56-Related Polymicrogyria: Clinicoradiologic Profile of 4 Patients. ( 25922261 )
2015
46
Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study. ( 26520804 )
2015
47
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
48
Venous pattern of polymicrogyria detected by susceptibility weighted imaging (SWI). ( 26668757 )
2015
49
MEGALENCEPHALY, POLYMICROGYRIA, POLYDACTYLY AND HYDROCEPHALUS (MPPH) SYNDROME: A NEW CASE WITH OCCIPITAL ENCEPHALOCELE AND CLEFT PALATE. ( 26852507 )
2015
50
DTI-based tractography of the arcuate fasciculus in patients with polymicrogyria and language disorders. ( 26216794 )
2015

Variations for Polymicrogyria

ClinVar genetic disease variations for Polymicrogyria:

6
# 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 GRCh38 Chromosome 9, 137800985: 137800985

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

GO Terms for Polymicrogyria

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

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

Molecular functions related to Polymicrogyria according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 structural constituent of cytoskeleton GO:0005200 8.62 TUBA8 TUBB2B

Sources for Polymicrogyria

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
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47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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