PMG
MCID: PLY024
MIFTS: 35

Polymicrogyria (PMG) malady

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Polymicrogyria

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Aliases & Descriptions for Polymicrogyria:

Name: Polymicrogyria 23 48 24 25 27 68
 
Pmg 25

Classifications:



Summaries for Polymicrogyria

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NIH Rare Diseases:48 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 are IL-10 Pathway and Development Slit-Robo signaling. 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 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 106)
idRelated DiseaseScoreTop Affiliating Genes
1polymicrogyria with optic nerve hypoplasia12.2
2band-like calcification with simplified gyration and polymicrogyria12.2
3polymicrogyria, bilateral perisylvian12.2
4bilateral generalized polymicrogyria12.1
5polymicrogyria, bilateral frontoparietal12.1
6megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 112.1
7megalencephaly-capillary malformation-polymicrogyria syndrome, somatic12.1
8polymicrogyria, symmetric or asymmetric12.1
9bilateral frontal polymicrogyria12.1
10polymicrogyria, bilateral temporooccipital12.1
11polymicrogyria with seizures12.1
12polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis12.1
13megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 212.1
14megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 312.1
15unilateral polymicrogyria11.9
16mpph syndrome11.9
17microcephaly with polymicrogyria11.8
18bilateral polymicrogyria11.8
19unilateral focal polymicrogyria11.8
20polymicrogyria turricephaly hypogenitalism11.7
21megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome, somatic11.7
22agyria pachygyria polymicrogyria11.6
23bilateral parasagittal parieto-occipital polymicrogyria11.6
24microcephaly-polymicrogyria-corpus callosum agenesis syndrome11.6
25unilateral hemispheric polymicrogyria11.6
26cortical malformations, occipital11.4
27megalencephaly11.1
28hemimegalencephaly11.0
29neuronal migration disorders11.0
30band heterotopia11.0
31cortical dysplasia, complex, with other brain malformations 110.8
32congenital intrauterine infection-like syndrome10.8
33cortical dysplasia, complex, with other brain malformations 210.7
34cortical dysplasia, complex, with other brain malformations 610.7
35spinal muscular atrophy, lower extremity-predominant, 2, ad10.7
36muscular dystrophy-dystroglycanopathy , type a, 410.7
37epilepsy10.3
38hydrocephalus10.1
39polydactyly10.1
40neurological consequences of cytomegalovirus infection10.0CCND2, PIK3R2
41mitochondrial disorders10.0CCND2, PIK3R2
42schizencephaly9.9
43y chromosome infertility9.9TUBA8, TUBB2B
44neuronitis9.9
45pachygyria9.9
46status epilepticus9.8
47porencephaly9.8
48microcephaly9.8
49cerebritis9.8
50muscular dystrophy9.8

Graphical network of the top 20 diseases related to Polymicrogyria:



Diseases related to polymicrogyria

Symptoms & Phenotypes for Polymicrogyria

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Drugs & Therapeutics for Polymicrogyria

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Epilepsy Phenome/Genome ProjectUnknown statusNCT00552045
2Phenotypic and Genotypic Studies in Congenital and Early Onset AtaxiasCompletedNCT01488461
3Brain Development Research ProgramRecruitingNCT00305305
4Human Epilepsy Genetics--Neuronal Migration Disorders StudyRecruitingNCT00041600

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 Polymicrogyria27 24 ADGRG1

Anatomical Context for Polymicrogyria

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MalaCards organs/tissues related to Polymicrogyria:

36
Brain, Cortex, Eye, Temporal lobe, Pituitary, Skeletal muscle, Pineal

Publications for Polymicrogyria

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Articles related to Polymicrogyria:

(show top 50)    (show all 283)
idTitleAuthorsYear
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

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Clinvar genetic disease variations for Polymicrogyria:

5
id Gene Variation Type Significance SNP ID Assembly Location
1EHMT1NM_ 024757.4(EHMT1): c.2712+1G> ASNVPathogenicrs1057518849GRCh37Chr 9, 140695437: 140695437
2AKT3NM_ 005465.4(AKT3): c.1393C> T (p.Arg465Trp)SNVPathogenic/ Likely pathogenicrs587776935GRCh37Chr 1, 243668598: 243668598

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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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:00070179.5TUBA8, TUBB2B

Sources for Polymicrogyria

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet