PMG
MCID: PLY024
MIFTS: 48

Polymicrogyria (PMG) malady

Neuronal diseases, Fetal diseases, Bone diseases categories

Summaries for Polymicrogyria

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21Genetics Home Reference, 63Wikipedia, 19GeneReviews, 32MalaCards
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Genetics Home Reference:21 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.

MalaCards: Polymicrogyria, also known as polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy, is related to periventricular nodular heterotopia and microcephaly. An important gene associated with Polymicrogyria is GPR56 (G protein-coupled receptor 56), and among its related pathways are Resolution of Sister Chromatid Cohesion and Chaperonin-mediated protein folding. The compounds Epothilone D and 2-MERCAPTO-N-[1,2,3,10-TETRAMETHOXY-9-OXO-5,6,7,9-TETRAHYDRO-BENZO[A]HEPTALEN-7-YL]ACETAMIDE have been mentioned in the context of this disorder. Affiliated tissues include brain, cortex and temporal lobe, and related mouse phenotype nervous system.

Wikipedia:63 Polymicrogyria (PMG) is a developmental malformation of the human brain characterized by an excessive... more...

GeneReviews summary for poly

Aliases & Classifications for Polymicrogyria

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60UMLS, 19GeneReviews, 20GeneTests, 21Genetics Home Reference, 48Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal diseases
Anatomical: Neuronal diseases, Bone diseases


Characteristics (Orphanet epidemiological data):

48
polymicrogyria:
Inheritance: Autosomal dominant,Autosomal recessive,Sporadic,X-linked dominant; Age of onset: Childhood


Aliases & Descriptions:

polymicrogyria 19 20 21 48
polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 60
membranous lipodystrophy 60
pmg 21


External Ids:

ICD10 via Orphanet26 Q04.3
SNOMED-CT via Orphanet57 4945003
UMLS via Orphanet61 C0266464

Related Diseases for Polymicrogyria

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17GeneCards, 18GeneDecks
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Diseases related to Polymicrogyria via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 89)
idRelated DiseaseScoreTop Affiliating Genes
1periventricular nodular heterotopia30.2GPR56
2microcephaly30.0WDR62, PAX6
3lissencephaly29.7TUBA1A, TUBB2B, GPR56
4polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy11.2
5tyrobp-related polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy10.8
6trem2-related polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy10.8
7dementia10.5
8lipodystrophy10.5
9bilateral frontoparietal polymicrogyria10.5
10hydrocephalus10.4
11bilateral perisylvian polymicrogyria10.4
12polydactyly10.4
13megalencephaly, polymicrogyria, and hydrocephalus syndrome10.3
14pseudo-torch syndrome10.2
15megalencephaly-capillary malformation-polymicrogyria syndrome, somatic10.2
16polymicrogyria, symmetric or asymmetric10.2
17bilateral generalized polymicrogyria10.2
18bilateral parasagittal parieto-occipital polymicrogyria10.2
19polymicrogyria with optic nerve hypoplasia10.2
20megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome10.2
21status epilepticus10.2
22neuronitis10.2
23cerebritis10.1
24epilepsy syndrome10.1
25muscular dystrophy10.1
26agyria pachygyria polymicrogyria10.1
27bilateral frontal polymicrogyria10.1
28polymicrogyria, asymmetric10.1
29polymicrogyria with seizures10.1
30neurofibromatosis10.0
31joubert syndrome10.0
32hydranencephaly10.0
33holoprosencephaly10.0
34congenital muscular dystrophy10.0
35hemiplegia10.0
36kabuki syndrome10.0
37megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome, somatic10.0
38polymicrogyria, bilateral occipital10.0
39cortical malformations, occipital10.0
40microcephaly - polymicrogyria - corpus callosum agenesis10.0
41unilateral polymicrogyria10.0
42unilateral focal polymicrogyria10.0
43unilateral hemispheric polymicrogyria10.0
44amyloidosis10.0
45pseudobulbar palsy10.0SRPX2
46intellectual disability10.0PAX6
47optic nerve hypoplasia10.0PAX6
48developmental disabilities10.0FGD1, PAX6
49nephronophthisis10.0NPHP1, AHI1
50mental retardation10.0PAX6, FGD1, AHI1

Graphical network of the top 20 diseases related to Polymicrogyria:



Diseases related to polymicrogyria

Clinical Features for Polymicrogyria

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Drugs & Therapeutics for Polymicrogyria

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Polymicrogyria

Drug clinical trials:

Search ClinicalTrials for Polymicrogyria

Search NIH Clinical Center for Polymicrogyria

Search CenterWatch for Polymicrogyria

Genetic Tests for Polymicrogyria

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20GeneTests
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Genetic tests related to Polymicrogyria:

id Genetic test Affiliating Genes
1 Polymicrogyria20 GPR56

Anatomical Context for Polymicrogyria

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32MalaCards
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MalaCards organs/tissues related to Polymicrogyria:

32
Brain, Cortex, Temporal lobe, Skeletal muscle, Pineal

Animal Models for Polymicrogyria or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Polymicrogyria:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00036318.4EOMES, LAMC3, PAX6, RTTN, GPSM2, GPR56

Publications for Polymicrogyria

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50PubMed
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Articles related to Polymicrogyria:

(show top 50)    (show all 232)
idTitleAuthorsYear
1
Brain lipoma, corpus callosum hypoplasia and polymicrogyria in familial multiple lipomatosis. (23116686)
2013
2
Description of a novel TUBA1A mutation in Arg-390 associated with asymmetrical polymicrogyria and mid-hindbrain dysgenesis. (23317684)
2013
3
A mutation in Tubb2b, a human polymicrogyria gene, leads to lethality and abnormal cortical development in the mouse. (23727838)
2013
4
Congenital hemiparesis, unilateral polymicrogyria and epilepsy with or without status epilepticus during sleep: a study of 66 patients with long-term follow-up. (24184770)
2013
5
Four-year follow-up of megalencephaly, polymicrogyria, postaxial polydactyly and hydrocephalus (MPPH) syndrome. (24092603)
2013
6
Septo-optic dysplasia plus bilateral perisylvian polymicrogyria: a case report. (23124487)
2013
7
Autosomal recessive bilateral frontal polymicrogyria with ectopia lentis and chorioretinal dystrophy. (24339607)
2013
8
Polymicrogyria-associated epilepsy: a multicenter phenotypic study from the Epilepsy Phenome/Genome Project. (23750890)
2013
9
Intracranial evaluation of the epileptogenic zone in regional infrasylvian polymicrogyria. (22988886)
2013
10
Accumulation of GABAergic Neurons, Causing a Focal Ambient GABA Gradient, and Downregulation of KCC2 Are Induced During Microgyrus Formation in a Mouse Model of Polymicrogyria. (23246779)
2012
11
Altered distribution of inhibitory interneurons in polymicrogyria. (22647842)
2012
12
Symmetric polymicrogyria and pachygyria associated with TUBB2B gene mutations. (22333901)
2012
13
Polymicrogyria in fetal alcohol syndrome. (19764076)
2010
14
Hypomelanosis of Ito with tessellated fundus and polymicrogyria. (20519794)
2010
15
Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyria. (20727516)
2010
16
Polymicrogyria in a child with inv dup del(9p) and 22q11.2 microduplication. (19213026)
2009
17
Focal electrical status (FES): a new finding associated with polymicrogyria. (19424084)
2009
18
Joubert syndrome with bilateral polymicrogyria: clinical and neuropathological findings in two brothers. (19533793)
2009
19
Auditory processing disorders in twins with perisylvian polymicrogyria. (19623451)
2009
20
Management of the child with polymicrogyria. (19835238)
2009
21
Intralesional recordings and epileptogenic zone in focal polymicrogyria. (17868055)
2008
22
Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2. (18536050)
2008
23
Prenatal ultrasonographic diagnosis of polymicrogyria. (18991326)
2008
24
Electroencephalogram in unilateral multilobar polymicrogyria with nonconvulsive status epilepticus. (17625937)
2008
25
Microstructural white matter abnormalities in nodular heterotopia with overlying polymicrogyria. (17097893)
2007
26
Clinical and electroencephalographic features of patients with polymicrogyria. (17545827)
2007
27
A case of schizencephaly with polymicrogyria. (17432096)
2007
28
Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus (MPPH): report of a new case. (18058629)
2007
29
Functional organization of human visual cortex in occipital polymicrogyria. (17437294)
2007
30
Megalencephaly and polymicrogyria with polydactyly syndrome. (17675034)
2007
31
Polymicrogyria and deletion 22q11.2 syndrome: window to the etiology of a common cortical malformation. (17036343)
2006
32
Bilateral perysilvian polymicrogyria in Chiari I malformation. (17058087)
2006
33
Morphofunctional organization in three patients with unilateral polymicrogyria: combined use of diffusion tensor imaging and functional magnetic resonance imaging. (16503392)
2006
34
A new syndrome of congenital generalized osteosclerosis and bilateral polymicrogyria. (16097005)
2005
35
Re: polymicrogyria versus pachygyria in 22q11 microdeletion. (16001437)
2005
36
Club feet with congenital perisylvian polymicrogyria possibly due to bifocal ischemic damage of the neuraxis in utero. (15057985)
2004
37
Early prenatal MR imaging diagnosis of polymicrogyria. (14970044)
2004
38
Polymicrogyria in glycogenosis type III: an incidental finding? (15301837)
2004
39
Focal polymicrogyria: planar-surface MRI. (15079035)
2004
40
Epilepsy and perisylvian polymicrogyria in a patient with Kabuki syndrome. (14667078)
2003
41
Bilateral Frontoparietal Polymicrogyria Linked to Chromosome 16. (15346151)
2003
42
An autosomal recessive form of bilateral frontoparietal polymicrogyria maps to chromosome 16q12.2-21. (11845408)
2002
43
Unilateral cerebral polymicrogyria with ipsilateral cerebral hemiatrophy. (12271397)
2002
44
Bilateral symmetrical frontoparietal polymicrogyria. (12374591)
2002
45
Bilateral focal polymicrogyria in Ehlers-Danlos syndrome. (10634459)
2000
46
Polymicrogyria associated with scalp and limb defects: variant of Adams-Oliver syndrome. (10946361)
2000
47
Diffuse polymicrogyria associated with congenital hydrocephalus, craniosynostosis, severe mental retardation, and minor facial and genital anomalies. (10921525)
2000
48
Polymicrogyria is an uncommon manifestation in 22q11.2 deletion syndrome. (10982488)
2000
49
Multilobar polymicrogyria, intractable drop attack seizures, and sleep-related electrical status epilepticus. (9710026)
1998
50
Diffuse polymicrogyria associated with an unusual pattern of multiple congenital anomalies including turribrachycephaly and hypogenitalism. (8723127)
1996

Genetic Variations for Polymicrogyria

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Expression for genes affiliated with Polymicrogyria

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Polymicrogyria

Search GEO for disease gene expression data for Polymicrogyria.

Pathways for genes affiliated with Polymicrogyria

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Sources:
53Reactome, 12EMD Millipore, 37NCBI BioSystems Database, 51QIAGEN, 29KEGG
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Pathways related to Polymicrogyria according to GeneCards/GeneDecks:

(show all 20)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.9TUBA1A, TUBB2B, TUBB2A
2
Hide members
9.9TUBA1A, TUBB2B, TUBB2A
3
Hide members
9.9TUBA1A, TUBB2B, TUBB2A
4
Hide members
9.9TUBB2A, TUBB2B, TUBA1A
5
Hide members
9.9TUBB2A, TUBB2B, TUBA1A
69.9TUBB2A, TUBB2B, TUBA1A
7
Hide members
9.9TUBB2A, TUBB2B, TUBA1A
8
Hide members
9.9TUBB2A, TUBB2B, TUBA1A
9
Cytoskeleton remodeling Reverse signaling by ephrin B
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9.7TUBA8, TUBB2A, TUBB2B, TUBA1A
109.7TUBA1A, TUBB2B, TUBB2A, TUBA8
11
Hide members
9.7TUBA8, TUBB2A, TUBB2B, TUBA1A
129.7TUBA1A, TUBB2B, TUBB2A, TUBA8
13
wtCFTR and deltaF508 traffic / Membrane expression (norm and CF)
9.7TUBA1A, TUBB2B, TUBB2A, TUBA8
14
Hide members
9.7TUBA1A, TUBB2B, TUBB2A, TUBA8
15
Cell cycle Spindle assembly and chromosome separation
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9.7TUBA1A, TUBB2B, TUBB2A, TUBA8
16
Hide members
9.7TUBA8, TUBB2A, TUBB2B, TUBA1A
179.7TUBA1A, TUBB2B, TUBB2A, TUBA8
18
Hide members
9.6LAMC3, OCLN, TUBA8, TUBB2A
19
Development Slit-Robo signaling
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9.6TUBA1A, TUBB2B, TUBB2A, TUBA8, OCLN
20
Cell adhesion Gap junctions
Hide members
9.6OCLN, TUBA8, TUBB2A, TUBB2B, TUBA1A

Compounds for genes affiliated with Polymicrogyria

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Sources:
11DrugBank, 59Tocris Bioscience, 44Novoseek, 2BitterDB, 28IUPHAR, 49PharmGKB
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Compounds related to Polymicrogyria according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1Epothilone D1110.1TUBA8, TUBA1A
22-MERCAPTO-N-[1,2,3,10-TETRAMETHOXY-9-OXO-5,6,7,9-TETRAHYDRO-BENZO[A]HEPTALEN-7-YL]ACETAMIDE119.8TUBB2B, TUBA1A
3vinblastine sulfate599.5ENSG00000258947, TUBA1A, TUBB2B, TUBB2A, TUBA8
4vinorelbine ditartrate599.5TUBA1A, TUBB2B, TUBB2A, TUBA8, ENSG00000258947
5epothilone b59 44 1111.4TUBA1A, TUBB2B, TUBB2A, TUBA8, ENSG00000258947
6colchicine59 44 2 28 1113.3ENSG00000258947, TUBA8, TUBB2A, TUBB2B, TUBA1A
7docetaxel44 49 59 1112.2TUBA1A, TUBB2B, TUBB2A, TUBA8, ENSG00000258947

GO Terms for genes affiliated with Polymicrogyria

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16Gene Ontology
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Cellular components related to Polymicrogyria according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cell-cell junctionGO:0059119.7AHI1, OCLN, NPHP1
2microtubule cytoskeletonGO:0156309.6SRPX2, TUBB2A, TUBB2B, TUBA1A
3microtubuleGO:0058749.4TUBA1A, TUBB2B, TUBB2A, TUBA8

Biological processes related to Polymicrogyria according to GeneCards/GeneDecks:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1de novo posttranslational protein foldingGO:05108410.0TUBB2A, TUBB2B, TUBA1A
2photoreceptor cell outer segment organizationGO:03584510.0NPHP1, AHI1
3microtubule-based processGO:0070179.9TUBA8, TUBB2A, TUBB2B, TUBA1A
4protein foldingGO:0064579.9TUBB2A, TUBB2B, TUBA1A
5protein localization to organelleGO:0333659.9PAX6, AHI1
6protein polymerizationGO:0512589.9TUBA1A, TUBB2B, TUBB2A, TUBA8
7hindbrain developmentGO:0309029.6PAX6, AHI1
8central nervous system developmentGO:0074179.5AHI1, PAX6, NHEJ1

Molecular functions related to Polymicrogyria according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1structural constituent of cytoskeletonGO:0052009.7TUBA8, TUBB2A, TUBB2B, TUBA1A
2GTP bindingGO:0055259.7TUBA8, TUBB2A, TUBB2B, TUBA1A
3structural molecule activityGO:0051989.4TUBA1A, NPHP1, OCLN, LAMC3
4GTPase activityGO:0039249.4TUBA1A, TUBB2B, TUBB2A, TUBA8

Products for genes affiliated with Polymicrogyria

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  • Antibodies
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  • Antibodies

Sources for Polymicrogyria

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet