MCID: PLY024
MIFTS: 34

Polymicrogyria malady

Category: Genetic diseases (common)

Aliases & Classifications for Polymicrogyria

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Aliases & Descriptions for Polymicrogyria:

Name: Polymicrogyria 22 46 23 24 25 66
 
Pmg 24

Classifications:



Summaries for Polymicrogyria

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NIH Rare Diseases:46 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 band-like calcification with simplified gyration and polymicrogyria and polymicrogyria with optic nerve hypoplasia. An important gene associated with Polymicrogyria is ADGRG1 (Adhesion G Protein-Coupled Receptor G1), and among its related pathways are IL-10 Pathway and FoxO signaling pathway. Affiliated tissues include brain, cortex and eye.

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.

Wikipedia:69 Polymicrogyria (PMG) is a condition that affects the development of the human brain by multiple small... more...

GeneReviews summary for NBK1329

Related Diseases for Polymicrogyria

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

(show top 50)    (show all 103)
idRelated DiseaseScoreTop Affiliating Genes
1band-like calcification with simplified gyration and polymicrogyria12.2
2polymicrogyria with optic nerve hypoplasia12.2
3megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome12.2
4polymicrogyria, bilateral perisylvian12.1
5polymicrogyria, bilateral frontoparietal12.1
6polymicrogyria, symmetric or asymmetric12.1
7megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 112.1
8megalencephaly-capillary malformation-polymicrogyria syndrome, somatic12.1
9bilateral generalized polymicrogyria12.1
10megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 212.0
11megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 312.0
12polymicrogyria, bilateral temporooccipital12.0
13polymicrogyria with seizures12.0
14bilateral frontal polymicrogyria12.0
15unilateral polymicrogyria12.0
16polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis12.0
17microcephaly with polymicrogyria11.9
18bilateral polymicrogyria11.9
19unilateral focal polymicrogyria11.9
20polymicrogyria turricephaly hypogenitalism11.8
21megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome, somatic11.8
22agyria pachygyria polymicrogyria11.8
23bilateral parasagittal parieto-occipital polymicrogyria11.8
24microcephaly-polymicrogyria-corpus callosum agenesis syndrome11.8
25unilateral hemispheric polymicrogyria11.8
26cortical malformations, occipital11.2
27congenital intrauterine infection-like syndrome10.9
28muscular dystrophy-dystroglycanopathy , type a, 410.8
29megalencephaly10.7
30epilepsy10.4
31hemimegalencephaly10.4
32neuronal migration disorders10.4
33hydrocephalus10.2
34polydactyly10.2
35schizencephaly10.1
36periventricular nodular heterotopia10.0
37neuronitis10.0
38pachygyria10.0
39status epilepticus10.0
40cortical dysplasia, complex, with other brain malformations 110.0
41porencephaly9.9
42microcephaly9.9
43cerebritis9.9
44muscular dystrophy9.9
45neurofibromatosis, type 19.8
46cerebellar hypoplasia9.8
47holoprosencephaly9.8
48hemiplegia9.8
49hydranencephaly9.8
50neurofibromatosis9.8

Graphical network of the top 20 diseases related to Polymicrogyria:



Diseases related to polymicrogyria

Symptoms for Polymicrogyria

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Drugs & Therapeutics for Polymicrogyria

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Phenotypic and Genotypic Studies in Congenital and Early Onset AtaxiasCompletedNCT01488461
2Brain Development Research ProgramRecruitingNCT00305305
3Human Epilepsy Genetics--Neuronal Migration Disorders StudyRecruitingNCT00041600
4Epilepsy Phenome/Genome ProjectActive, not recruitingNCT00552045

Search NIH Clinical Center for Polymicrogyria

Genetic Tests for Polymicrogyria

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Genetic tests related to Polymicrogyria:

id Genetic test Affiliating Genes
1 Polymicrogyria25 23 ADGRG1

Anatomical Context for Polymicrogyria

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MalaCards organs/tissues related to Polymicrogyria:

34
Brain, Cortex, Eye, Temporal lobe, Pituitary, Skeletal muscle, Pineal

Animal Models for Polymicrogyria or affiliated genes

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Publications for Polymicrogyria

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Articles related to Polymicrogyria:

(show top 50)    (show all 277)
idTitleAuthorsYear
1
Megalencephaly, polymicrogyria and ribbon-like band heterotopia: A new cortical malformation. (27381655)
2016
2
Surgical management of medically refractory epilepsy in patients with polymicrogyria. (26647903)
2016
3
Bilateral Frontoparietal Polymicrogyria: A Novel GPR56 Mutation and an Unusual Phenotype. (25642806)
2015
4
Germline activating AKT3 mutation associated with megalencephaly, polymicrogyria, epilepsy and hypoglycemia. (25523067)
2015
5
An autopsy case of refractory epilepsy due to unilateral polymicrogyria in a 65-year-old man: Histogenesis of four-layered polymicrogyric cortex. (26094545)
2015
6
GPR56-Related Polymicrogyria: Clinicoradiologic Profile of 4 Patients. (25922261)
2015
7
Recessive Mutations in POLR3B Encoding RNA Polymerase III Subunit Causing Diffuse Hypomyelination in Patients with 4H Leukodystrophy with Polymicrogyria and Cataracts. (26478204)
2015
8
Altered white matter connectivity and network organization in polymicrogyria revealed by individual gyral topology-based analysis. (23954485)
2014
9
Whole genome sequencing identifies a novel occludin mutation in microcephaly with band-like calcification and polymicrogyria that extends the phenotypic spectrum. (24668585)
2014
10
Role of the phosphoinositide phosphatase FIG4 gene in familial epilepsy with polymicrogyria. (24598713)
2014
11
Pontine malformation, undecussated pyramidal tracts, and regional polymicrogyria: a new syndrome. (24507697)
2014
12
Whole-exome sequencing of a unique brain malformation with periventricular heterotopia, cingulate polymicrogyria and midbrain tectal hyperplasia. (23240987)
2013
13
Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis. (22228622)
2012
14
Seizure susceptibility in polymicrogyria: clinical and experimental approaches. (21733659)
2011
15
Whole-exome sequencing identifies compound heterozygous mutations in WDR62 in siblings with recurrent polymicrogyria. (21834044)
2011
16
Polymicrogyria and infantile spasms in a patient with 1p36 deletion syndrome. (20708863)
2011
17
GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complex. (20929962)
2010
18
Fetal akinesia deformation sequence with delayed skeletal muscle maturation and polymicrogyria: evidence for a hypoxic/ischemic pathogenesis. (19968489)
2010
19
Mega-corpus callosum, polymicrogyria, and psychomotor retardation syndrome. (20117750)
2010
20
Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patients. (20403963)
2010
21
Bilateral polymicrogyria as the indicative feature in a child with a 22q11.2 deletion. (20553986)
2010
22
Mutation of the variant alpha-tubulin TUBA8 results in polymicrogyria with optic nerve hypoplasia. (19896110)
2009
23
Cerebral venous sinus thrombosis, Dandy-Walker malformation and polymicrogyria in Turner syndrome: an unreported association. (19499516)
2009
24
Focal electrical status (FES): a new finding associated with polymicrogyria. (19424084)
2009
25
Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria. (19465910)
2009
26
Prenatal ultrasonographic diagnosis of polymicrogyria. (18991326)
2008
27
Characterization of language and reading skills in familial polymicrogyria. (17920799)
2008
28
Ictal technetium-99 m ethyl cysteinate dimer single-photon emission tomographic findings in epileptic patients with polymicrogyria syndromes: a subtraction of ictal-interictal SPECT coregistered to MRI study. (18097663)
2008
29
Microstructural white matter abnormalities in nodular heterotopia with overlying polymicrogyria. (17097893)
2007
30
Clinical and electroencephalographic features of patients with polymicrogyria. (17545827)
2007
31
A familial syndrome of unilateral polymicrogyria affecting the right hemisphere. (16401865)
2006
32
Source analysis of interictal spikes in polymicrogyria: loss of relevant cortical fissures requires simultaneous EEG to avoid MEG misinterpretation. (15850741)
2005
33
Perisylvian polymicrogyria in Landau-Kleffner syndrome. (15883344)
2005
34
Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus: a rare brain malformation syndrome associated with mental retardation and seizures. (15627943)
2004
35
Prenatal ultrasound detection of bilateral focal polymicrogyria. (15503280)
2004
36
Unilateral closed-lip schizencephaly and epilepsy: a comparison with cases of unilateral polymicrogyria. (15030902)
2004
37
Club feet with congenital perisylvian polymicrogyria possibly due to bifocal ischemic damage of the neuraxis in utero. (15057985)
2004
38
Electroclinical and magnetoencephalographic studies in epilepsy patients with polymicrogyria. (15579301)
2004
39
Epilepsy and perisylvian polymicrogyria in a patient with Kabuki syndrome. (14667078)
2003
40
Bilateral frontoparietal polymicrogyria: clinical and radiological features in 10 families with linkage to chromosome 16. (12730993)
2003
41
Congenital bilateral perisylvian polymicrogyria presenting as congenital hemiplegia. (9633745)
1998
42
Multilobar polymicrogyria, intractable drop attack seizures, and sleep-related electrical status epilepticus. (9710026)
1998
43
Cerebellar polymicrogyria. (9111684)
1997
44
Cutis verticis gyrata--mental deficiency syndrome: a patient with drug-resistant epilepsy and polymicrogyria. (8598189)
1996
45
Diffuse polymicrogyria associated with an unusual pattern of multiple congenital anomalies including turribrachycephaly and hypogenitalism. (8723127)
1996
46
Monozygous twin with polymicrogyria and normal co-twin. (7986297)
1994
47
Unlayered polymicrogyria: structural and developmental aspects. (1741482)
1991
48
Bilateral porencephalic defect and bilateral perisylvian polymicrogyria. (1810166)
1991
49
Developmental Foix-Chavany-Marie syndrome: polymicrogyria or macrogyria? (1694420)
1990
50
Absence of septum pellucidum and polymicrogyria: a forme fruste of the porencephalic syndrome. (2776383)
1989

Variations for Polymicrogyria

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Copy number variations for Polymicrogyria from CNVD:

6 (show all 18)
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1158161213050000046944323MicrodeletionAP001042.1Polymicrogyria
2158164213050000046944323MicrodeletionBRWD1Polymicrogyria
3158167213050000046944323MicrodeletionC21orf24Polymicrogyria
4158170213050000046944323MicrodeletionDSCR10Polymicrogyria
5158173213050000046944323MicrodeletionDSCR3Polymicrogyria
6158176213050000046944323MicrodeletionDSCR4Polymicrogyria
7158179213050000046944323MicrodeletionDSCR6Polymicrogyria
8158182213050000046944323MicrodeletionDSCR8Polymicrogyria
9158185213050000046944323MicrodeletionDSCR9Polymicrogyria
10158188213050000046944323MicrodeletionDYRK1APolymicrogyria
11158191213050000046944323MicrodeletionERGPolymicrogyria
12158194213050000046944323MicrodeletionETS2Polymicrogyria
13158197213050000046944323MicrodeletionHLCSPolymicrogyria
14158200213050000046944323MicrodeletionKCNJ15Polymicrogyria
15158203213050000046944323MicrodeletionKCNJ6Polymicrogyria
16158206213050000046944323MicrodeletionPIGPPolymicrogyria
17158209213050000046944323MicrodeletionPSMG1Polymicrogyria
18158213213050000046944323MicrodeletionTTC3Polymicrogyria

Expression for genes affiliated with Polymicrogyria

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Search GEO for disease gene expression data for Polymicrogyria.

Pathways for genes affiliated with Polymicrogyria

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Pathways related to Polymicrogyria according to GeneCards Suite gene sharing:

(show all 12)
idSuper pathwaysScoreTop Affiliating Genes
19.4CCND2, PIK3R2
2
Show member pathways
9.4CCND2, PIK3R2
39.3OCLN, PIK3R2
4
Show member pathways
9.2TUBA8, TUBB2B
59.2TUBA8, TUBB2B
6
Show member pathways
9.2TUBA8, TUBB2B
7
Show member pathways
9.2TUBA8, TUBB2B
89.2TUBA8, TUBB2B
99.1PIK3R2, TUBA8
10
Show member pathways
8.7PIK3R2, TUBA8, TUBB2B
11
Show member pathways
8.6OCLN, TUBA8, TUBB2B
12
Show member pathways
8.5OCLN, PIK3R2, TUBA8

GO Terms for genes affiliated with Polymicrogyria

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

idNameGO IDScoreTop Affiliating Genes
1microtubule-based processGO:00070179.2TUBA8, TUBB2B

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

idNameGO IDScoreTop Affiliating Genes
1structural constituent of cytoskeletonGO:00052009.2TUBA8, TUBB2B

Sources for Polymicrogyria

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet