PMG
MCID: PLY024
MIFTS: 45

Polymicrogyria (PMG) malady

Neuronal, Fetal, Bone categories

Summaries for Polymicrogyria

Sources:
21Genetics Home Reference, 64Wikipedia, 19GeneReviews, 33MalaCards
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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 mental retardation. 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 skeletal muscle, and related mouse phenotype nervous system.

Wikipedia:64 Polymicrogyria (PMG) is a developmental malformation of the human brain characterized by an excessive... more...

GeneReviews summary for poly

Aliases & Classifications for Polymicrogyria

Sources:
19GeneReviews, 20GeneTests, 21Genetics Home Reference, 49Orphanet, 61UMLS, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

49
polymicrogyria:
Inheritance: Autosomal dominant,Autosomal recessive,Sporadic,X-linked dominant; Age of onset: Childhood


Aliases & Descriptions:

polymicrogyria 19 20 21 49
polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 19 61
membranous lipodystrophy 19 61
nasu-hakola disease 19
pmg 21


External Ids:

ICD10 via Orphanet26 Q04.3
SNOMED-CT via Orphanet58 4945003
UMLS via Orphanet62 C0266464

Related Diseases for Polymicrogyria

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the Polymicrogyria family:

bilateral frontal polymicrogyria polymicrogyria with optic nerve hypoplasia
polymicrogyria with seizures unilateral polymicrogyria

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

(show top 50)    (show all 107)
idRelated DiseaseScoreTop Affiliating Genes
1periventricular nodular heterotopia30.2GPR56
2mental retardation30.1PAX6, FGD1, AHI1
3microcephaly30.0WDR62, PAX6
4optic nerve hypoplasia29.8PAX6
5lissencephaly29.7GPR56, TUBB2B, TUBA1A
6tyrobp-related polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy10.8
7trem2-related polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy10.8
8bilateral perisylvian polymicrogyria10.6
9bilateral frontoparietal polymicrogyria10.6
10unilateral polymicrogyria10.5
11megalencephaly10.4
12megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome10.4
13frontotemporal dementia10.4
14brain disease10.4
15polycystic bone disease10.4
16lip disease10.4
17polydactyly10.4
18megalencephaly, polymicrogyria, and hydrocephalus syndrome10.3
19bilateral frontal polymicrogyria10.3
20bilateral generalized polymicrogyria10.3
21polymicrogyria, asymmetric10.3
22megalencephaly-capillary malformation-polymicrogyria syndrome, somatic10.3
23pseudo-torch syndrome10.2
24schizencephaly10.2
25polymicrogyria, symmetric or asymmetric10.2
26n syndrome10.2
27bilateral parasagittal parieto-occipital polymicrogyria10.2
28pachygyria10.2
29polymicrogyria with optic nerve hypoplasia10.2
30periventricular heterotopia10.2
31polymicrogyria, bilateral occipital10.2
32polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy10.2
33status epilepticus10.2
34corpus callosum agenesis10.2
35agyria pachygyria polymicrogyria10.2
36chromosome 22q deletion10.1
37polymicrogyria turricephaly hypogenitalism10.1
38porencephaly10.1
39polymicrogyria with seizures10.1
40microcephaly - polymicrogyria - corpus callosum agenesis10.1
41unilateral focal polymicrogyria10.1
42amyloidosis10.0
43myospherulosis10.0
44lichen amyloidosis10.0
45neurofibromatosis10.0
46joubert syndrome10.0
47hydranencephaly10.0
48holoprosencephaly10.0
49micro syndrome10.0
50kabuki syndrome10.0

Graphical network of the top 20 diseases related to Polymicrogyria:



Diseases related to polymicrogyria

Clinical Features for Polymicrogyria

Drugs & Therapeutics for Polymicrogyria

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
See all sources

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

Sources:
20GeneTests
See all sources

Genetic tests related to Polymicrogyria:

id Genetic test Affiliating Genes
1 Polymicrogyria20 GPR56

Anatomical Context for Polymicrogyria

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Polymicrogyria:

33
Brain, Cortex, Skeletal muscle, T cells, Fetal brain, Cingulate cortex, Parietal lobe, Temporal lobe, Occipital lobe, Pineal

Animal Models for Polymicrogyria or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Polymicrogyria:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00036318.4EOMES, LAMC3, PAX6, RTTN, GPSM2, GPR56

Publications for Polymicrogyria

Sources:
51PubMed
See all sources

Articles related to Polymicrogyria:

(show top 50)    (show all 233)
idTitleAuthorsYear
1
Altered white matter connectivity and network organization in polymicrogyria revealed by individual gyral topology-based analysis. (23954485)
2014
2
Description of a novel TUBA1A mutation in Arg-390 associated with asymmetrical polymicrogyria and mid-hindbrain dysgenesis. (23317684)
2013
3
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
4
Whole-exome sequencing of a unique brain malformation with periventricular heterotopia, cingulate polymicrogyria and midbrain tectal hyperplasia. (23240987)
2013
5
Autosomal recessive bilateral frontal polymicrogyria with ectopia lentis and chorioretinal dystrophy. (24339607)
2013
6
Asymmetric polymicrogyria and periventricular nodular heterotopia due to mutation in ARX. (22585566)
2012
7
An autopsy case of polymicrogyria and intracerebral calcification with death by intracerebral hemorrhage. (21615522)
2012
8
Polymicrogyria: correlation of magnetic resonance imaging and clinical findings. (22286201)
2012
9
Predicting hand function after hemispherotomy: TMS versus fMRI in hemispheric polymicrogyria. (22462681)
2012
10
Seizure susceptibility in polymicrogyria: clinical and experimental approaches. (21733659)
2011
11
Bilateral Polymicrogyria and MELAS/A3243G Mutation. A Very Uncommon Association. (24059608)
2011
12
A novel GPR56 mutation causes bilateral frontoparietal polymicrogyria. (21723461)
2011
13
Deletion of human GP1BB and SEPT5 is associated with Bernard-Soulier syndrome, platelet secretion defect, polymicrogyria, and developmental delay. (21800012)
2011
14
Editorial comment on "Whole exome sequencing identifies compound heterozygous mutations in WDR62 in siblings with recurrent polymicrogyria". (21834027)
2011
15
Perisylvian polymicrogyria, infantile spasms and arthrogryposis: the severe end of the spectrum of congenital bilateral perisylvian polymicrogyria. (19559633)
2010
16
Mutation of the variant alpha-tubulin TUBA8 results in polymicrogyria with optic nerve hypoplasia. (19896110)
2009
17
Focal electrical status (FES): a new finding associated with polymicrogyria. (19424084)
2009
18
Bilateral frontoparietal polymicrogyria, Lennox-Gastaut syndrome, and GPR56 gene mutations. (19016831)
2009
19
Polymicrogyria in standard poodles. (19566852)
2009
20
Management of the child with polymicrogyria. (19835238)
2009
21
Syndrome of megalencephaly, polydactyly, and polymicrogyria lacking frank hydrocephalus, with associated MR imaging findings. (19369601)
2009
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
Bilateral mesial temporal polymicrogyria: a case report. (18344402)
2008
25
Bilateral perisylvian polymicrogyria, periventricular nodular heterotopia, and left ventricular noncompaction in a girl with 10.5-11.1 Mb terminal deletion of 1p36. (18925681)
2008
26
Homozygous silencing of T-box transcription factor EOMES leads to microcephaly with polymicrogyria and corpus callosum agenesis. (17353897)
2007
27
Surgical treatment of polymicrogyria with advanced radiologic and neurophysiologic techniques. (17171381)
2007
28
Functional organization of human visual cortex in occipital polymicrogyria. (17437294)
2007
29
Megalencephaly and polymicrogyria with polydactyly syndrome. (17675034)
2007
30
A familial syndrome of unilateral polymicrogyria affecting the right hemisphere. (16401865)
2006
31
Mirror movements following cortical resection of polymicrogyria in a child with intractable epilepsy. (16458827)
2006
32
A new case of megalencephaly and perisylvian polymicrogyria with post-axial polydactyly and hydrocephalus: MPPH syndrome. (16807158)
2006
33
Re: polymicrogyria versus pachygyria in 22q11 microdeletion. (16001437)
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
New syndrome: focal dermal hypoplasia, morning glory anomaly, and polymicrogyria. (14699622)
2004
36
Clinical, MRI, and pathological features of polymicrogyria in chromosome 22q11 deletion syndrome. (15150787)
2004
37
Bilateral frontoparietal polymicrogyria: clinical and radiological features in 10 families with linkage to chromosome 16. (12730993)
2003
38
Middle interhemispheric variant of holoprosencephaly associated with diffuse polymicrogyria. (12637288)
2003
39
Occipito-temporal polymicrogyria and subclinical muscular dystrophy. (12776231)
2003
40
An autosomal recessive form of bilateral frontoparietal polymicrogyria maps to chromosome 16q12.2-21. (11845408)
2002
41
Childhood-onset epilepsy associated with polymicrogyria. (12453599)
2002
42
The postmigrational development of polymicrogyria documented by magnetic resonance imaging from 31 weeks' postconceptional age. (10360774)
1999
43
Epilepsy and polymicrogyria in Kabuki make-up (Niikawa-Kuroki) syndrome. (10465145)
1999
44
Congenital bilateral perisylvian polymicrogyria presenting as congenital hemiplegia. (9633745)
1998
45
Cutis verticis gyrata--mental deficiency syndrome: a patient with drug-resistant epilepsy and polymicrogyria. (8598189)
1996
46
Posterior agyria-pachygyria with polymicrogyria: evidence for an inherited neuronal migration disorder. (7824106)
1995
47
Abnormal cortical plate (polymicrogyria), heterotopias and brain damage in monozygous twins. (8043696)
1994
48
Unlayered polymicrogyria and agenesis of the corpus callosum: a relevant association? (1557957)
1992
49
Polymicrogyria: a case detected by MRI. (2774095)
1989
50
Absence of septum pellucidum and polymicrogyria: a forme fruste of the porencephalic syndrome. (2776383)
1989

Genetic Variations for Polymicrogyria

Expression for genes affiliated with Polymicrogyria

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
54Reactome, 12EMD Millipore, 38NCBI BioSystems Database, 52QIAGEN, 30KEGG
See all sources

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
Hide members
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
Hide members
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
Hide members
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

Sources:
11DrugBank, 60Tocris Bioscience, 45Novoseek, 2BitterDB, 29IUPHAR, 50PharmGKB
See all sources

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 sulfate609.5ENSG00000258947, TUBA1A, TUBB2B, TUBB2A, TUBA8
4vinorelbine ditartrate609.5TUBA1A, TUBB2B, TUBB2A, TUBA8, ENSG00000258947
5epothilone b60 45 1111.4TUBA1A, TUBB2B, TUBB2A, TUBA8, ENSG00000258947
6colchicine60 45 2 29 1113.3ENSG00000258947, TUBA8, TUBB2A, TUBB2B, TUBA1A
7docetaxel45 50 60 1112.2TUBA1A, TUBB2B, TUBB2A, TUBA8, ENSG00000258947

GO Terms for genes affiliated with Polymicrogyria

Sources:
16Gene Ontology
See all sources

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Polymicrogyria

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet