PMG
MCID: PLY024
MIFTS: 50

Polymicrogyria (PMG)

Categories: Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Polymicrogyria

MalaCards integrated aliases for Polymicrogyria:

Name: Polymicrogyria 24 53 25 59 37 29 6 72
Pmg 25

Characteristics:

Orphanet epidemiological data:

59
polymicrogyria
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable,X-linked dominant; Age of onset: Childhood;

Classifications:



External Ids:

KEGG 37 H00271
ICD10 via Orphanet 34 Q04.3
UMLS via Orphanet 73 C0266464
Orphanet 59 ORPHA35981
UMLS 72 C0266464

Summaries for Polymicrogyria

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. Polymicrogyria can affect part of the brain or the whole brain. When the condition affects one side of the brain, researchers describe it as unilateral. When it affects both sides of the brain, it is described as bilateral. The signs and symptoms associated with polymicrogyria depend on how much of the brain, and which particular brain regions, are affected. Researchers have identified multiple forms of polymicrogyria. The mildest form is known as unilateral focal polymicrogyria. This form of the condition affects a relatively small area on one side of the brain. It may cause minor neurological problems, such as mild seizures that can be easily controlled with medication. Some people with unilateral focal polymicrogyria do not have any problems associated with the condition. Bilateral forms of polymicrogyria tend to cause more severe neurological problems. Signs and symptoms of these conditions can include recurrent seizures (epilepsy), delayed development, crossed eyes, problems with speech and swallowing, and muscle weakness or paralysis. The most severe form of the disorder, bilateral generalized polymicrogyria, affects the entire brain. This condition causes severe intellectual disability, problems with movement, and seizures that are difficult or impossible to control with medication. Polymicrogyria most often occurs as an isolated feature, although it can occur with other brain abnormalities. It is also a feature of several genetic syndromes characterized by intellectual disability and multiple birth defects. These include 22q11.2 deletion syndrome, Adams-Oliver syndrome, Aicardi syndrome, Galloway-Mowat syndrome, Joubert syndrome, and Zellweger spectrum disorder.

MalaCards based summary : Polymicrogyria, also known as pmg, is related to megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 and megalencephaly-capillary malformation-polymicrogyria syndrome. An important gene associated with Polymicrogyria is AKT3 (AKT Serine/Threonine Kinase 3), and among its related pathways/superpathways are G-Beta Gamma Signaling and Prolactin Signaling Pathway. Affiliated tissues include brain, cortex and eye, and related phenotypes are behavior/neurological and growth/size/body region

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.

KEGG : 37
Polymicrogyria (PMG) is a malformation of cortical development characterized by an excessive number of small gyri with abnormal lamination.

Wikipedia : 75 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 334)
# Related Disease Score Top Affiliating Genes
1 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 34.5 PIK3R2 CCND2 AKT3
2 megalencephaly-capillary malformation-polymicrogyria syndrome 34.2 PIK3R2 PIK3CA AKT3
3 polymicrogyria, bilateral perisylvian, x-linked 34.1 SRPX2 PI4KA ADGRG1
4 megalencephaly 30.6 PIK3R2 PIK3CA CCND2 AKT3
5 cutis marmorata telangiectatica congenita 29.9 PIK3R2 PIK3CA AKT3
6 microcephaly 29.4 RTTN OCLN NHEJ1 EOMES AKT3
7 lennox-gastaut syndrome 29.3 SCN1A AKT3 ADGRG1
8 polymicrogyria with or without vascular-type ehlers-danlos syndrome 12.7
9 polymicrogyria, bilateral frontoparietal 12.7
10 polymicrogyria, bilateral perisylvian, autosomal recessive 12.7
11 microcephaly, short stature, and polymicrogyria with or without seizures 12.7
12 polymicrogyria, bilateral temporooccipital 12.6
13 polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis 12.6
14 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 12.6
15 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 12.6
16 bilateral generalized polymicrogyria 12.6
17 bilateral frontal polymicrogyria 12.5
18 unilateral polymicrogyria 12.3
19 pseudo-torch syndrome 1 12.3
20 bilateral polymicrogyria 12.2
21 bilateral parasagittal parieto-occipital polymicrogyria 12.2
22 cortical dysplasia, complex, with other brain malformations 8 12.2
23 unilateral focal polymicrogyria 12.2
24 unilateral hemispheric polymicrogyria 12.2
25 cortical dysplasia, complex, with other brain malformations 7 12.2
26 agyria pachygyria polymicrogyria 12.1
27 microcephaly-polymicrogyria-corpus callosum agenesis syndrome 12.1
28 obsolete: polymicrogyria-turricephaly-hypogenitalism syndrome 12.1
29 cortical malformations, occipital 11.8
30 congenital intrauterine infection-like syndrome 11.6
31 aicardi syndrome 11.5
32 muscular dystrophy-dystroglycanopathy , type a, 4 11.4
33 neuronal migration disorders 11.4
34 band heterotopia 11.4
35 goldberg-shprintzen syndrome 11.4
36 autosomal dominant spinal muscular atrophy, lower extremity-predominant 2 11.4
37 cortical dysplasia, complex, with other brain malformations 1 11.2
38 neurodevelopmental disorder with or without variable brain abnormalities 11.2
39 craniotelencephalic dysplasia 11.1
40 aicardi-goutieres syndrome 1 11.1
41 galloway-mowat syndrome 1 11.1
42 galloway-mowat syndrome 2, x-linked 11.1
43 witteveen-kolk syndrome 11.1
44 cortical dysplasia, complex, with other brain malformations 2 11.1
45 cortical dysplasia, complex, with other brain malformations 6 11.1
46 smith-kingsmore syndrome 11.1
47 peho-like syndrome 11.1
48 galloway-mowat syndrome 3 11.1
49 galloway-mowat syndrome 4 11.1
50 galloway-mowat syndrome 5 11.1

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 10.25 ADGRG1 AKT3 ATP1A2 CCND2 EHMT1 EOMES
2 growth/size/body region MP:0005378 10.13 AKT3 EHMT1 EOMES FIG4 NHEJ1 OCLN
3 cardiovascular system MP:0005385 10.02 AKT3 ATP1A2 CCND2 EHMT1 FIG4 PIK3CA
4 homeostasis/metabolism MP:0005376 10 AKT3 ATP1A2 CCND2 EHMT1 EOMES NHEJ1
5 mortality/aging MP:0010768 9.97 AKT3 ATP1A2 CCND2 EHMT1 EOMES FIG4
6 nervous system MP:0003631 9.8 ADGRG1 AKT3 ATP1A2 CCND2 EHMT1 EOMES
7 normal MP:0002873 9.23 AKT3 ATP1A2 EHMT1 EOMES PI4KA SCN1A

Drugs & Therapeutics for Polymicrogyria

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Human Epilepsy Genetics--Neuronal Migration Disorders Study Unknown status NCT00041600
2 Epilepsy Phenome/Genome Project: A Phenotype/Genotype Analysis of Epilepsy Completed NCT00552045
3 Phenotypic and Genotypic Studies in Congenital and Early Onset Ataxias Completed NCT01488461
4 Assessment of the Prevalence and Mutational Spectrum of Genes AHI1, NPHP1 and CEP290 in Joubert Syndrome and Cerebello-oculo-renal Syndromes Completed NCT00873678
5 Disorders of Cerebral Development: A Phenotypic and Genetic Analysis Recruiting NCT00305305
6 Pathogenesis of Selected X-Linked Dominant Disorders and New Strategies to Identify the Gene Mutated in Aicardi Syndrome Recruiting NCT00697411

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, Fetal Brain, Testes, Temporal Lobe, Heart

Publications for Polymicrogyria

Articles related to Polymicrogyria:

(show top 50) (show all 1026)
# Title Authors PMID Year
1
Brain Magnetic Resonance Imaging Findings of Congenital Cytomegalovirus Infection as a Prognostic Factor for Neurological Outcome. 38 4
29681488 2018
2
De novo and inherited private variants in MAP1B in periventricular nodular heterotopia. 38 4
29738522 2018
3
A novel missense mutation in the HECT domain of NEDD4L identified in a girl with periventricular nodular heterotopia, polymicrogyria and cleft palate. 38 4
28515470 2017
4
Biallelic COL3A1 mutations result in a clinical spectrum of specific structural brain anomalies and connective tissue abnormalities. 38 4
28742248 2017
5
Chiari I malformation in a child with PTEN hamartoma tumor syndrome: Association or coincidence? 38 4
28286253 2017
6
Recurrent de novo BICD2 mutation associated with arthrogryposis multiplex congenita and bilateral perisylvian polymicrogyria. 38 4
27751653 2016
7
Role of the phosphoinositide phosphatase FIG4 gene in familial epilepsy with polymicrogyria. 38 4
24598713 2014
8
Polymicrogyria with dysmorphic basal ganglia? Think tubulin! 38 4
23495813 2014
9
TUBA1A mutations: from isolated lissencephaly to familial polymicrogyria. 38 4
21403111 2011
10
GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complex. 38 4
20929962 2010
11
Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patients. 38 4
20403963 2010
12
MRI analysis of sulcation morphology in polymicrogyria. 38 4
20331706 2010
13
Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2. 38 4
18536050 2008
14
Polymicrogyria and deletion 22q11.2 syndrome: window to the etiology of a common cortical malformation. 38 4
17036343 2006
15
Genotype-phenotype analysis of human frontoparietal polymicrogyria syndromes. 38 4
16240336 2005
16
Polymicrogyria associated with scalp and limb defects: variant of Adams-Oliver syndrome. 38 4
10946361 2000
17
Clinical and imaging features of cortical malformations in childhood. 38 4
10489031 1999
18
Congenital bilateral perisylvian syndrome: study of 31 patients. The CBPS Multicenter Collaborative Study. 38 4
8094839 1993
19
Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling. 4
26235985 2015
20
Malformations of cortical development: clinical features and genetic causes. 4
24932993 2014
21
An atypical patient with Cowden syndrome and PTEN gene mutation presenting with cortical malformation and focal epilepsy. 4
22469695 2012
22
CNS malformations in Knobloch syndrome with splice mutation in COL18A1 gene. 4
17546652 2007
23
Anomalies of the corpus callosum: an MR analysis of the phenotypic spectrum of associated malformations. 4
17056927 2006
24
Cobblestone lissencephaly with normal eyes and muscle. 4
8737821 1996
25
Stereotactic thermocoagulation for insular epilepsy: Lessons from successes and failures. 38
31206643 2019
26
Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases. 38
31256876 2019
27
Cerebral Corticoarterial Malformations : A Case Series of Unilateral Polymicrogyria and Ipsilateral Arterial Dysplasia. 38
31396655 2019
28
Mouse Strain and Sex-Dependent Differences in Long-term Behavioral Abnormalities and Neuropathologies after Developmental Zika Infection. 38
31085612 2019
29
Parasagittal hemispherotomy in hemispheric polymicrogyria with electrical status epilepticus during slow sleep: Indications, results and follow-up. 38
31386962 2019
30
Abnormal circadian rhythm in patients with GRIN1-related developmental epileptic encephalopathy. 38
31176596 2019
31
Reelin: Diverse roles in central nervous system development, health and disease. 38
31022460 2019
32
Author Correction: A missense mutation in the HECT domain of NEDD4L identified in a girl with periventricular nodular heterotopia, polymicrogyria, and cleft palate. 38
31028281 2019
33
MYCN de novo gain-of-function mutation in a patient with a novel megalencephaly syndrome. 38
30573562 2019
34
Derepression of sonic hedgehog signaling upon Gpr161 deletion unravels forebrain and ventricular abnormalities. 38
30914320 2019
35
Severe presentation and complex brain malformations in an individual carrying a CCND2 variant. 38
31056854 2019
36
Multiple genomic copy number variants associated with periventricular nodular heterotopia indicate extreme genetic heterogeneity. 38
30683929 2019
37
Cortical and Commissural Defects Upon HCF-1 Loss in Nkx2.1-Derived Embryonic Neurons and Glia. 38
31207118 2019
38
Posterior quadrantic dysplasia with localized hemimegalencephaly in a patient with giant congenital melanocytic nevus: First case report. 38
30794039 2019
39
SCN2A mutation in an infant with Ohtahara syndrome and neuroimaging findings: expanding the phenotype of neuronal migration disorders. 38
31204721 2019
40
Amniotic bands and associated polymicrogyria: In favor of a unique ischemic cause. 38
30955893 2019
41
Schizencephaly accompanied by occipital encephalocele and deletion of chromosome 22q13.32: a case report. 38
31130048 2019
42
Overlap of polymicrogyria, hydrocephalus, and Joubert syndrome in a family with novel truncating mutations in ADGRG1/GPR56 and KIAA0556. 38
30982090 2019
43
Cortical malformations and COL4A1 mutation: Three new cases. 38
30837194 2019
44
Compound heterozygous POMGNT1 mutations leading to muscular dystrophy-dystroglycanopathy type A3: a case report. 38
30961548 2019
45
Heterogeneous clinical phenotypes and cerebral malformations reflected by rotatin cellular dynamics. 38
30879067 2019
46
Metabolic Changes of Brain Developmental Venous Anomalies on 18F-FDG-PET. 38
29960795 2019
47
Electrical cortical stimulation for refractory focal epilepsy: A long-term follow-up study. 38
30731337 2019
48
Prevalence of neuropsychiatric symptoms associated with malformations of cortical development. 38
30731297 2019
49
Correction to: Congenital pial AVF along the falx cerebri with complete agenesis of the corpus callosum and bilateral parasagittal pachygyria-polymicrogyria secondary to chronic ischemia. 38
30694355 2019
50
Congenital pial AVF along the falx cerebri with complete agenesis of the corpus callosum and bilateral parasagittal pachygyria-polymicrogyria secondary to chronic ischemia. 38
30539296 2019

Variations for Polymicrogyria

ClinVar genetic disease variations for Polymicrogyria:

6 (show all 17)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 ATP1A2 NM_000702.4(ATP1A2): c.2869G> T (p.Glu957Ter) single nucleotide variant Pathogenic 1:160109458-160109458 1:160139668-160139668
2 ATP1A2 NM_000702.4(ATP1A2): c.293_294TC[3] (p.Ile100fs) short repeat Pathogenic 1:160093120-160093121 1:160123330-160123331
3 EHMT1 NM_024757.5(EHMT1): c.2712+1G> A single nucleotide variant Pathogenic rs1057518849 9:140695437-140695437 9:137800985-137800985
4 SCN1A NM_006920.6(SCN1A): c.3294dup (p.Ser1099fs) duplication Pathogenic 2:166892659-166892660 2:166036150-166036150
5 SCN3A NM_006922.4(SCN3A): c.2624T> C (p.Ile875Thr) single nucleotide variant Pathogenic/Likely pathogenic rs1057518801 2:165986748-165986748 2:165130238-165130238
6 AKT3 NM_005465.7(AKT3): c.1393C> T (p.Arg465Trp) single nucleotide variant Pathogenic/Likely pathogenic rs587776935 1:243668598-243668598 1:243505296-243505296
7 BORCS5 NM_058169.6(BORCS5): c.203-1G> T single nucleotide variant Likely pathogenic rs1555155556 12:12588561-12588561 12:12435627-12435627
8 DYNC1H1 NM_001376.5(DYNC1H1): c.1802T> A (p.Ile601Asn) single nucleotide variant Likely pathogenic rs1057518776 14:102452364-102452364 14:101986027-101986027
9 LAMA2 NM_000426.3(LAMA2): c.5530C> A (p.Arg1844Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs56173620 6:129722453-129722453 6:129401308-129401308
10 NR2F1 NM_005654.6(NR2F1): c.265T> C (p.Cys89Arg) single nucleotide variant Uncertain significance 5:92920994-92920994 5:93585288-93585288
11 ENTPD1 NM_001098175.2(ENTPD1): c.46G> A (p.Val16Met) single nucleotide variant Uncertain significance rs150772804 10:97583002-97583002 10:95823245-95823245
12 LINGO4 NM_001004432.3(LINGO4): c.1262G> A (p.Arg421Gln) single nucleotide variant Uncertain significance rs143154971 1:151773919-151773919 1:151801443-151801443
13 LINGO4 NM_001004432.3(LINGO4): c.851C> T (p.Ser284Phe) single nucleotide variant Uncertain significance rs151205204 1:151774330-151774330 1:151801854-151801854
14 LAMA5 NM_005560.5(LAMA5): c.10726G> A (p.Glu3576Lys) single nucleotide variant Uncertain significance rs139502000 20:60885242-60885242 20:62310186-62310186
15 LAMA5 NM_005560.5(LAMA5): c.7114G> A (p.Asp2372Asn) single nucleotide variant Uncertain significance rs111653839 20:60893635-60893635 20:62318579-62318579
16 46;XY;t(6;16)(p21.1;q21)dn Translocation Uncertain significance
17 LAMA2 NM_000426.3(LAMA2): c.5179G> C (p.Glu1727Gln) single nucleotide variant Uncertain significance rs374201203 6:129712743-129712743 6:129391598-129391598

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 42)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.95 TUBA8 SCN3A SCN1A PIK3R2 AKT3
2
Show member pathways
12.36 PIK3R2 PIK3CA CCND2 AKT3
3
Show member pathways
12.29 PIK3R2 PIK3CA CCND2 AKT3
4
Show member pathways
12.23 PIK3R2 PIK3CA CCND2 AKT3
5 12.21 PIK3R2 PIK3CA CCND2 AKT3
6 12.14 PIK3R2 PIK3CA ATP1A2 AKT3
7
Show member pathways
12.06 PIK3R2 PIK3CA CCND2 AKT3
8
Show member pathways
12.04 PIK3R2 PIK3CA PI4KA FIG4
9 12.01 PIK3R2 PIK3CA AKT3
10 12 PIK3R2 PIK3CA AKT3
11
Show member pathways
11.98 PIK3R2 PIK3CA CCND2
12 11.98 PIK3R2 PIK3CA AKT3
13 11.95 PIK3R2 PIK3CA AKT3
14 11.94 PIK3R2 PIK3CA CCND2 AKT3
15 11.92 PIK3R2 PIK3CA AKT3
16
Show member pathways
11.92 PIK3R2 PIK3CA AKT3
17 11.89 PIK3R2 PIK3CA AKT3
18
Show member pathways
11.88 PIK3R2 PIK3CA EHMT1 AKT3
19
Show member pathways
11.86 PIK3R2 PIK3CA AKT3
20 11.86 PIK3R2 PIK3CA AKT3
21
Show member pathways
11.85 PIK3R2 PIK3CA AKT3
22 11.83 PIK3R2 PIK3CA AKT3
23 11.79 PIK3R2 PIK3CA AKT3
24 11.78 PIK3R2 PIK3CA AKT3
25
Show member pathways
11.76 PIK3R2 PIK3CA CCND2 AKT3
26 11.74 PIK3R2 PIK3CA AKT3
27 11.74 PIK3R2 PIK3CA AKT3
28
Show member pathways
11.65 PIK3R2 PIK3CA AKT3
29 11.63 PIK3R2 PIK3CA ATP1A2 AKT3
30 11.58 PIK3R2 PIK3CA AKT3
31 11.54 PIK3R2 PIK3CA AKT3
32 11.52 PIK3R2 PIK3CA CCND2 AKT3
33
Show member pathways
11.51 PIK3R2 PIK3CA AKT3
34 11.41 PIK3R2 PIK3CA AKT3
35 11.35 PIK3R2 PIK3CA AKT3
36 11.22 PIK3R2 PIK3CA PI4KA AKT3
37 11.11 PIK3R2 PIK3CA ATP1A2
38
Show member pathways
11.08 PIK3R2 PIK3CA AKT3
39 11.05 PIK3R2 PIK3CA
40 11.02 PIK3R2 PIK3CA
41 10.9 PIK3R2 PIK3CA
42 10.57 PIK3R2 PIK3CA ATP1A2 AKT3

GO Terms for Polymicrogyria

Cellular components related to Polymicrogyria according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 phosphatidylinositol 3-kinase complex GO:0005942 8.96 PIK3R2 PIK3CA
2 voltage-gated sodium channel complex GO:0001518 8.62 SCN3A SCN1A

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

# Name GO ID Score Top Affiliating Genes
1 sodium ion transport GO:0006814 9.54 SCN3A SCN1A ATP1A2
2 phosphatidylinositol phosphorylation GO:0046854 9.5 PIK3R2 PIK3CA PI4KA
3 membrane depolarization during action potential GO:0086010 9.26 SCN3A SCN1A
4 cerebral cortex regionalization GO:0021796 9.16 EOMES ADGRG1
5 phosphatidylinositol-3-phosphate biosynthetic process GO:0036092 8.96 PIK3CA FIG4
6 phosphatidylinositol-mediated signaling GO:0048015 8.8 PIK3R2 PIK3CA PI4KA

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

# Name GO ID Score Top Affiliating Genes
1 voltage-gated sodium channel activity GO:0005248 8.62 SCN3A SCN1A

Sources for Polymicrogyria

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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