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
Compound heterozygosity in GPR56 with bilateral frontoparietal polymicrogyria. (23981349)
2013
2
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria. (24098143)
2013
3
Banding pattern on polarized hair microscopic examination and unilateral polymicrogyria in a patient with steroid sulfatase deficiency. (21931015)
2012
4
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
5
Polymicrogyria and infantile spasms in a patient with 1p36 deletion syndrome. (20708863)
2011
6
Bilateral perisylvian polymicrogyria with cerebellar dysplasia and ectopic neurohypophysis. (21273507)
2011
7
Fetal akinesia deformation sequence with delayed skeletal muscle maturation and polymicrogyria: evidence for a hypoxic/ischemic pathogenesis. (19968489)
2010
8
Mega-corpus callosum, polymicrogyria, and psychomotor retardation syndrome. (20117750)
2010
9
Congenital polymicrogyria including the perisylvian region in early childhood. (20201970)
2010
10
Cortical thickness reduction of normal appearing cortex in patients with polymicrogyria. (19453835)
2010
11
LAMA2 stop-codon mutation: merosin-deficient congenital muscular dystrophy with occipital polymicrogyria, epilepsy and psychomotor regression. (18406646)
2009
12
Cerebral venous sinus thrombosis, Dandy-Walker malformation and polymicrogyria in Turner syndrome: an unreported association. (19499516)
2009
13
A case of polymicrogyria in macaque monkey: impact on anatomy and function of the motor system. (20030837)
2009
14
Bilateral frontoparietal polymicrogyria (BFPP) syndrome secondary to a 16q12.1-q21 chromosome deletion involving GPR56 gene. (19807741)
2009
15
Band-like intracranial calcification with simplified gyration and polymicrogyria: a distinct "pseudo-TORCH" phenotype. (19012351)
2008
16
Interstitial deletion of 13q associated with polymicrogyria. (18324687)
2008
17
Middle interhemispheric variant of holoprosencephaly associated with bilateral perisylvian polymicrogyria. (18353069)
2008
18
Prenatal and postnatal follow-up of a fetal interhemispheric arachnoid cyst with partial corpus callosum agenesis, asymmetric ventriculomegaly and localized polymicrogyria. Case report. (18957852)
2008
19
Truncation of NHEJ1 in a patient with polymicrogyria. (17191205)
2007
20
Interstitial deletion of chromosome 4p associated with mild mental retardation, epilepsy and polymicrogyria of the left temporal lobe. (17941887)
2007
21
Polymicrogyria, cerebellar vermis hypoplasia, severe facial dysmorphism and cleft palate: a new syndrome? (17067864)
2007
22
Polymicrogyria in a neonate with severe autoimmune thrombocytopenia: rare coincidence or related disorder? (17154190)
2007
23
Increased mirror movements after epileptic seizure in a case of polymicrogyria. (16534448)
2006
24
Lower motor neuron involvement in perisylvian polymicrogyria. (16978465)
2006
25
Multiple thromboembolic events in fetofetal transfusion syndrome in triplets contributing to the understanding of pathogenesis of hydranencephaly in combination with polymicrogyria. (16997352)
2006
26
Source analysis of interictal spikes in polymicrogyria: loss of relevant cortical fissures requires simultaneous EEG to avoid MEG misinterpretation. (15850741)
2005
27
Abnormal primary somatosensory function in unilateral polymicrogyria: an MEG study. (15626537)
2005
28
Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria. (15467982)
2004
29
Polymicrogyria in monozygous twins and an elder sibling. (12828405)
2003
30
Patient with bilateral periventricular nodular heterotopia and polymicrogyria with apparently balanced reciprocal translocation t(1;6)(p12;p12.2) that interrupts the mannosidase alpha, class 1A, and glutathione S-transferase A2 genes. (14684696)
2003
31
Focal polymicrogyria, continuous spike-and-wave discharges during slow-wave sleep and Cohen syndrome: a case report. (12907281)
2003
32
Cryptic t(1;12)(q44;p13.3) translocation in a previously described syndrome with polymicrogyria, segregating as an apparently X-linked trait. (12548742)
2003
33
Pachygyria and polymicrogyria in 22q11 deletion syndrome. (12548745)
2003
34
Aplasia of the optic chiasm and tracts with unifocal polymicrogyria in an otherwise healthy infant. (12051289)
2002
35
Polymicrogyria in chromosome 22q11 deletion syndrome. (11993959)
2002
36
Polymicrogyria without porencephaly/schizencephaly. MRI analysis of the spectrum and the prevalence of macroscopic findings in the clinical population. (12185542)
2002
37
Bilateral fronto-occipital polymicrogyria and epilepsy. (11466027)
2001
38
Bilateral posterior parietal polymicrogyria: a mild form of congenital bilateral perisylvian syndrome? (11488882)
2001
39
Focal polymicrogyria in mother and son. (10891642)
2000
40
Frontal nonconvulsive status epilepticus associated with high-dose tiagabine therapy in a child with familial bilateral perisylvian polymicrogyria. (11077464)
2000
41
Bilateral frontal polymicrogyria: a newly recognized brain malformation syndrome. (10690985)
2000
42
Bilateral perisylvian polymicrogyria in three generations. (10371547)
1999
43
Syndromes of bilateral symmetrical polymicrogyria. (10588102)
1999
44
Cerebellar polymicrogyria. (9111684)
1997
45
Pena-Shokeir phenotype associated with bilateral opercular polymicrogyria. (8972538)
1996
46
Correlation of prenatal events with the development of polymicrogyria. (7611049)
1995
47
Monozygous twin with polymicrogyria and normal co-twin. (7986297)
1994
48
Unlayered polymicrogyria: structural and developmental aspects. (1741482)
1991
49
Bilateral opercular polymicrogyria. (2913934)
1989
50
Syndrome of absent abdominal muscles: two cases with microcephaly, polymicrogyria, and cerebellar malformations. (4250700)
1970

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
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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
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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
  • Proteins
  • Lysates
  • 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