PMG
MCID: PLY024
MIFTS: 49

Polymicrogyria (PMG)

Categories: Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Polymicrogyria

MalaCards integrated aliases for Polymicrogyria:

Name: Polymicrogyria 24 52 25 58 36 29 6 71
Pmg 25

Characteristics:

Orphanet epidemiological data:

58
polymicrogyria
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable,X-linked dominant; Age of onset: Childhood;

Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


External Ids:

KEGG 36 H00271
ICD10 via Orphanet 33 Q04.3
UMLS via Orphanet 72 C0266464
Orphanet 58 ORPHA35981
UMLS 71 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 Sertoli-Sertoli Cell Junction Dynamics and Pathways in cancer. Affiliated tissues include brain, eye and cortex, and related phenotypes are behavior/neurological and growth/size/body region

NIH Rare Diseases : 52 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 : 36 Polymicrogyria (PMG) is a malformation of cortical development characterized by an excessive number of small gyri with abnormal lamination.

Wikipedia : 74 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 346)
# Related Disease Score Top Affiliating Genes
1 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 34.5 PIK3R2 CCND2 AKT3
2 megalencephaly-capillary malformation-polymicrogyria syndrome 34.3 PIK3R2 PIK3CA AKT3
3 polymicrogyria, bilateral perisylvian, x-linked 34.1 SRPX2 PI4KA ADGRG1
4 band heterotopia 32.1 TUBB2B TUBA8 EOMES ADGRG1
5 neuronal migration disorders 32.0 SCN1A ADGRG1
6 tubulinopathies 30.9 TUBB2B TUBA8
7 hydrocephalus 30.8 PIK3R2 CCND2 AKT3 ADGRG1
8 cutis marmorata telangiectatica congenita 30.0 PIK3R2 PIK3CA AKT3
9 megalencephaly 29.9 SCN1A PIK3R2 PIK3CA CCND2 AKT3
10 hemimegalencephaly 29.5 SCN1A PIK3CA AKT3
11 periventricular nodular heterotopia 29.5 TUBB2B TUBA8 SRPX2 RTTN EOMES AKT3
12 lennox-gastaut syndrome 29.2 SCN3A SCN1A ADGRG1
13 landau-kleffner syndrome 29.0 SRPX2 SCN1A
14 microcephaly 28.9 SCN1A RTTN OCLN EOMES AKT3 ADGRG1
15 polymicrogyria with or without vascular-type ehlers-danlos syndrome 12.7
16 polymicrogyria, bilateral frontoparietal 12.7
17 polymicrogyria, bilateral perisylvian, autosomal recessive 12.7
18 microcephaly, short stature, and polymicrogyria with or without seizures 12.7
19 polymicrogyria, bilateral temporooccipital 12.6
20 polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis 12.6
21 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 12.6
22 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 12.6
23 bilateral generalized polymicrogyria 12.6
24 bilateral frontal polymicrogyria 12.5
25 unilateral polymicrogyria 12.3
26 pseudo-torch syndrome 1 12.3
27 bilateral polymicrogyria 12.2
28 bilateral parasagittal parieto-occipital polymicrogyria 12.2
29 cortical dysplasia, complex, with other brain malformations 8 12.2
30 unilateral focal polymicrogyria 12.2
31 unilateral hemispheric polymicrogyria 12.2
32 cortical dysplasia, complex, with other brain malformations 7 12.2
33 agyria pachygyria polymicrogyria 12.1
34 microcephaly-polymicrogyria-corpus callosum agenesis syndrome 12.1
35 obsolete: polymicrogyria-turricephaly-hypogenitalism syndrome 12.1
36 cortical malformations, occipital 11.8
37 congenital intrauterine infection-like syndrome 11.6
38 aicardi syndrome 11.5
39 muscular dystrophy-dystroglycanopathy , type a, 4 11.4
40 tukel syndrome 11.4
41 goldberg-shprintzen syndrome 11.4
42 autosomal dominant spinal muscular atrophy, lower extremity-predominant 2 11.4
43 cortical dysplasia, complex, with other brain malformations 1 11.2
44 neurodevelopmental disorder with or without variable brain abnormalities 11.2
45 craniotelencephalic dysplasia 11.1
46 aicardi-goutieres syndrome 1 11.1
47 galloway-mowat syndrome 1 11.1
48 galloway-mowat syndrome 2, x-linked 11.1
49 witteveen-kolk syndrome 11.1
50 cortical dysplasia, complex, with other brain malformations 2 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:

45
# 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 10.17 AKT3 ATP1A2 COL3A1 EHMT1 EOMES FIG4
3 cardiovascular system MP:0005385 10.07 AKT3 ATP1A2 CCND2 COL3A1 EHMT1 FIG4
4 immune system MP:0005387 10 AKT3 CCND2 COL3A1 EHMT1 EOMES FIG4
5 mortality/aging MP:0010768 9.97 AKT3 ATP1A2 CCND2 COL3A1 EHMT1 EOMES
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:

40
Brain, Eye, Cortex, Heart, Temporal Lobe, Fetal Brain, Testes

Publications for Polymicrogyria

Articles related to Polymicrogyria:

(show top 50) (show all 1052)
# Title Authors PMID Year
1
Brain Magnetic Resonance Imaging Findings of Congenital Cytomegalovirus Infection as a Prognostic Factor for Neurological Outcome. 61 24
29681488 2018
2
De novo and inherited private variants in MAP1B in periventricular nodular heterotopia. 61 24
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. 61 24
28515470 2017
4
Biallelic COL3A1 mutations result in a clinical spectrum of specific structural brain anomalies and connective tissue abnormalities. 61 24
28742248 2017
5
Chiari I malformation in a child with PTEN hamartoma tumor syndrome: Association or coincidence? 61 24
28286253 2017
6
Recurrent de novo BICD2 mutation associated with arthrogryposis multiplex congenita and bilateral perisylvian polymicrogyria. 61 24
27751653 2016
7
Role of the phosphoinositide phosphatase FIG4 gene in familial epilepsy with polymicrogyria. 61 24
24598713 2014
8
Polymicrogyria with dysmorphic basal ganglia? Think tubulin! 61 24
23495813 2014
9
TUBA1A mutations: from isolated lissencephaly to familial polymicrogyria. 61 24
21403111 2011
10
GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complex. 61 24
20929962 2010
11
Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patients. 61 24
20403963 2010
12
MRI analysis of sulcation morphology in polymicrogyria. 61 24
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. 61 24
18536050 2008
14
Polymicrogyria and deletion 22q11.2 syndrome: window to the etiology of a common cortical malformation. 61 24
17036343 2006
15
Genotype-phenotype analysis of human frontoparietal polymicrogyria syndromes. 61 24
16240336 2005
16
Polymicrogyria associated with scalp and limb defects: variant of Adams-Oliver syndrome. 61 24
10946361 2000
17
Clinical and imaging features of cortical malformations in childhood. 61 24
10489031 1999
18
Congenital bilateral perisylvian syndrome: study of 31 patients. The CBPS Multicenter Collaborative Study. 61 24
8094839 1993
19
Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling. 24
26235985 2015
20
Malformations of cortical development: clinical features and genetic causes. 24
24932993 2014
21
An atypical patient with Cowden syndrome and PTEN gene mutation presenting with cortical malformation and focal epilepsy. 24
22469695 2012
22
CNS malformations in Knobloch syndrome with splice mutation in COL18A1 gene. 24
17546652 2007
23
Anomalies of the corpus callosum: an MR analysis of the phenotypic spectrum of associated malformations. 24
17056927 2006
24
Cobblestone lissencephaly with normal eyes and muscle. 24
8737821 1996
25
Neurodevelopmental disorder associated with de novo SCN3A pathogenic variants: two new cases and review of the literature. 61
31677917 2020
26
Further Insights into Developmental Brain Malformations and Leukoencephalopathy Associated with 6p25.3 Deletion. 61
31634935 2020
27
MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis. 61
31834374 2020
28
A journey through formation and malformations of the neo-cortex. 61
31776716 2020
29
Role of prenatal magnetic resonance imaging in fetuses with isolated mild or moderate ventriculomegaly in the era of neurosonography: a multicenter study. 61
31917496 2020
30
Growth hormone deficiency in megalencephaly-capillary malformation syndrome: An association with activating mutations in PIK3CA. 61
31729162 2020
31
One of the First Cases with PIK3CA-related Overgrowth Spectrum (PROS) in Saudi Arabia: A Case Report and Literature Review. 61
31929958 2020
32
Inborn errors of metabolism leading to neuronal migration defects. 61
31747049 2020
33
[De novo heterozygous mutation in the MBD5 gene associated with bilateral band heterotopia and polymicrogyria]. 61
31820818 2019
34
EML1-associated brain overgrowth syndrome with ribbon-like heterotopia. 61
31710781 2019
35
[Congenital Zika syndrome in Argentina: case series study]. 61
31758900 2019
36
Schizencephaly accompanied by occipital encephalocele and deletion of chromosome 22q13.32: a case report. 61
31130048 2019
37
Radiological Findings on Structural Magnetic Resonance Imaging in Fetal Alcohol Spectrum Disorders and Healthy Controls. 61
31840819 2019
38
TMX2 Is a Crucial Regulator of Cellular Redox State, and Its Dysfunction Causes Severe Brain Developmental Abnormalities. 61
31735293 2019
39
Duplication 2p16 is associated with perisylvian polymicrogyria. 61
31660690 2019
40
A Model of Brain Folding Based on Strong Local and Weak Long-Range Connectivity Requirements. 61
31808811 2019
41
Prenatal or Perinatal Injury? Diagnosing the Cortically Blind Infant. 61
31704229 2019
42
A novel lethal recognizable polymicrogyric syndrome caused by ATP1A2 homozygous truncating variants. 61
31608932 2019
43
Stereo-EEG ictal/interictal patterns and underlying pathologies. 61
31606703 2019
44
Widespread frontal lobe cortical dysplasia or partial hemimegalencephaly: a continuum of the spectrum. 61
31617492 2019
45
Polymicrogyria associated with 17p13.3p13.2 duplication: Case report and review of the literature. 61
31585183 2019
46
Speech and language in bilateral perisylvian polymicrogyria: a systematic review. 61
30680716 2019
47
Parasagittal hemispherotomy in hemispheric polymicrogyria with electrical status epilepticus during slow sleep: Indications, results and follow-up. 61
31386962 2019
48
Septo-optic Dysplasia : Assessment of Associated Findings with Special Attention to the Olfactory Sulci and Tracts. 61
29663010 2019
49
Operculoinsular cortectomy for refractory epilepsy. Part 1: Is it effective? 61
31629321 2019
50
Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases. 61
31256876 2019

Variations for Polymicrogyria

ClinVar genetic disease variations for Polymicrogyria:

6 (show all 18) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 EHMT1 NM_024757.5(EHMT1):c.2712+1G>ASNV Pathogenic 374034 rs1057518849 9:140695437-140695437 9:137800985-137800985
2 ATP1A2 NM_000702.4(ATP1A2):c.2869G>T (p.Glu957Ter)SNV Pathogenic 549759 rs1558010146 1:160109458-160109458 1:160139668-160139668
3 ATP1A2 NM_000702.4(ATP1A2):c.293_294TC[3] (p.Ile100fs)short repeat Pathogenic 549760 rs1558003446 1:160093117-160093118 1:160123327-160123328
4 SCN1A NM_006920.6(SCN1A):c.3294dup (p.Ser1099fs)duplication Pathogenic 599005 rs1559193213 2:166892659-166892660 2:166036149-166036150
5 SCN3A NM_006922.4(SCN3A):c.2624T>C (p.Ile875Thr)SNV Pathogenic/Likely pathogenic 373960 rs1057518801 2:165986748-165986748 2:165130238-165130238
6 AKT3 NM_005465.7(AKT3):c.1393C>T (p.Arg465Trp)SNV Pathogenic/Likely pathogenic 39814 rs587776935 1:243668598-243668598 1:243505296-243505296
7 BORCS5 NM_058169.6(BORCS5):c.203-1G>TSNV Likely pathogenic 242898 rs1555155556 12:12588561-12588561 12:12435627-12435627
8 DYNC1H1 NM_001376.5(DYNC1H1):c.1802T>A (p.Ile601Asn)SNV Likely pathogenic 373929 rs1057518776 14:102452364-102452364 14:101986027-101986027
9 DHX37 NM_032656.4(DHX37):c.1145A>G (p.Asp382Gly)SNV Likely pathogenic 691929 12:125455894-125455894 12:124971348-124971348
10 LAMA5 NM_005560.5(LAMA5):c.10726G>A (p.Glu3576Lys)SNV Conflicting interpretations of pathogenicity 438605 rs139502000 20:60885242-60885242 20:62310186-62310186
11 LAMA5 NM_005560.5(LAMA5):c.7114G>A (p.Asp2372Asn)SNV Conflicting interpretations of pathogenicity 438606 rs111653839 20:60893635-60893635 20:62318579-62318579
12 LAMA2 NM_000426.3(LAMA2):c.5530C>A (p.Arg1844Ser)SNV Conflicting interpretations of pathogenicity 92968 rs56173620 6:129722453-129722453 6:129401308-129401308
13 46;XY;t(6;16)(p21.1;q21)dnTranslocation Uncertain significance 268038
14 LAMA2 NM_000426.3(LAMA2):c.5179G>C (p.Glu1727Gln)SNV Uncertain significance 355276 rs374201203 6:129712743-129712743 6:129391598-129391598
15 LINGO4 NM_001004432.3(LINGO4):c.1262G>A (p.Arg421Gln)SNV Uncertain significance 438603 rs143154971 1:151773919-151773919 1:151801443-151801443
16 LINGO4 NM_001004432.3(LINGO4):c.851C>T (p.Ser284Phe)SNV Uncertain significance 438604 rs151205204 1:151774330-151774330 1:151801854-151801854
17 ENTPD1 NM_001776.6(ENTPD1):c.25G>A (p.Val9Met)SNV Uncertain significance 374088 rs150772804 10:97583002-97583002 10:95823245-95823245
18 NR2F1 NM_005654.6(NR2F1):c.265T>C (p.Cys89Arg)SNV Uncertain significance 599002 rs1561523716 5:92920994-92920994 5:93585288-93585288

Copy number variations for Polymicrogyria from CNVD:

7 (show all 18)
# CNVD ID Chromosome 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 38)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.83 TUBA8 PIK3R2 OCLN LAMC3 AKT3
2 12.75 PIK3R2 PIK3CA LAMC3 CCND2 AKT3
3
Show member pathways
12.72 PIK3R2 PIK3CA LAMC3 COL3A1 CCND2 AKT3
4
Show member pathways
12.39 PIK3R2 PIK3CA CCND2 AKT3
5
Show member pathways
12.3 PIK3R2 PIK3CA CCND2 AKT3
6 12.24 PIK3R2 PIK3CA CCND2 AKT3
7 12.22 PIK3R2 PIK3CA ATP1A2 AKT3
8
Show member pathways
12.2 PIK3R2 PIK3CA CCND2 AKT3
9
Show member pathways
12.13 PIK3R2 PIK3CA CCND2 AKT3
10
Show member pathways
12.12 PIK3R2 PIK3CA PI4KA FIG4
11 12.03 PIK3R2 PIK3CA CCND2 AKT3
12
Show member pathways
11.99 PIK3R2 PIK3CA EHMT1 AKT3
13
Show member pathways
11.95 PIK3R2 PIK3CA AKT3
14 11.93 PIK3R2 PIK3CA AKT3
15
Show member pathways
11.93 PIK3R2 PIK3CA CCND2 AKT3
16 11.92 PIK3R2 PIK3CA AKT3
17 11.88 PIK3R2 PIK3CA AKT3
18
Show member pathways
11.87 PIK3R2 PIK3CA AKT3
19 11.86 PIK3R2 PIK3CA AKT3
20 11.83 PIK3R2 PIK3CA COL3A1 AKT3
21 11.78 PIK3R2 PIK3CA AKT3
22 11.78 PIK3R2 PIK3CA ATP1A2 AKT3
23 11.73 PIK3R2 PIK3CA CCND2 AKT3
24
Show member pathways
11.71 PIK3R2 PIK3CA AKT3
25 11.64 PIK3R2 PIK3CA AKT3
26 11.63 PIK3R2 PIK3CA LAMC3 COL3A1
27 11.61 PIK3R2 PIK3CA AKT3
28 11.56 PIK3R2 PIK3CA AKT3
29 11.56 PIK3R2 PIK3CA COL3A1 AKT3
30
Show member pathways
11.53 PIK3R2 PIK3CA AKT3
31 11.48 PIK3R2 PIK3CA AKT3
32 11.44 PIK3R2 PIK3CA AKT3
33 11.42 PIK3R2 PIK3CA LAMC3 AKT3
34 11.22 PIK3R2 PIK3CA PI4KA AKT3
35 11.2 PIK3R2 PIK3CA ATP1A2
36
Show member pathways
11.13 PIK3R2 PIK3CA AKT3
37 10.92 PIK3R2 PIK3CA
38 10.6 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 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 membrane depolarization during action potential GO:0086010 9.4 SCN3A SCN1A
2 phosphatidylinositol-3-phosphate biosynthetic process GO:0036092 9.37 PIK3CA FIG4
3 phosphatidylinositol-mediated signaling GO:0048015 9.33 PIK3R2 PIK3CA PI4KA
4 negative regulation of neuron migration GO:2001223 9.32 COL3A1 ADGRG1
5 cerebral cortex regionalization GO:0021796 9.26 EOMES ADGRG1
6 phosphatidylinositol phosphorylation GO:0046854 9.13 PIK3R2 PIK3CA PI4KA
7 phosphatidylinositol biosynthetic process GO:0006661 8.92 PIK3R2 PIK3CA PI4KA FIG4

Sources for Polymicrogyria

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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