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
Quantification and discrimination of abnormal sulcal patterns in polymicrogyria. (22989584)
2013
2
Seizure susceptibility in polymicrogyria: clinical and experimental approaches. (21733659)
2011
3
Disease-associated GPR56 mutations cause bilateral frontoparietal polymicrogyria via multiple mechanisms. (21349848)
2011
4
Whole-exome sequencing identifies compound heterozygous mutations in WDR62 in siblings with recurrent polymicrogyria. (21834044)
2011
5
Polymicrogyria and congenital parvovirus b19 infection. (23705097)
2011
6
TUBA1A mutations: from isolated lissencephaly to familial polymicrogyria. (21403111)
2011
7
Bilateral (opercular and paracentral lobular) polymicrogyria and neurofibromatosis type 1. (21344624)
2011
8
Bilateral polymicrogyria: always think in chromosome 22q11.2 deletion syndromes. (22674744)
2011
9
GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complex. (20929962)
2010
10
Polymicrogyria without epilepsy by aberrantly migrating inhibitory interneurons. (20579939)
2010
11
Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patients. (20403963)
2010
12
Cortical malformations: unfolding polymicrogyria. (20811463)
2010
13
MRI analysis of sulcation morphology in polymicrogyria. (20331706)
2010
14
Current concepts of polymicrogyria. (20198472)
2010
15
Unbalanced der(5)t(5;20) translocation associated with megalencephaly, perisylvian polymicrogyria, polydactyly and hydrocephalus. (20503325)
2010
16
A locus for bilateral occipital polymicrogyria maps to chromosome 6q16-q22. (18758830)
2009
17
Complex epileptic (Foix-Chavany-Marie like) syndrome in a child with neurofibromatosis type 1 (NF1) and bilateral (opercular and paracentral) polymicrogyria. (19141142)
2009
18
Tuberous sclerosis complex with unilateral perisylvian polymicrogyria and contralateral hippocampal sclerosis - a case report. (19128987)
2009
19
Bilateral mesial temporal polymicrogyria: a case report. (18344402)
2008
20
Newly diagnosed polymicrogyria in the eighth decade. (18184229)
2008
21
A new candidate locus for bilateral perisylvian polymicrogyria mapped on chromosome Xq27. (18384144)
2008
22
Unilateral polymicrogyria with ipsilateral cerebral hemiatrophy: a distinct syndrome? (17307715)
2007
23
Unilateral focal polymicrogyria in a patient with classical Aarskog-Scott syndrome due to a novel missense mutation in an evolutionary conserved RhoGEF domain of the faciogenital dysplasia gene FGD1. (17847065)
2007
24
Diffusion tensor imaging in polymicrogyria: a report of three cases. (16607542)
2006
25
A familial syndrome of unilateral polymicrogyria affecting the right hemisphere. (16401865)
2006
26
Cognitive functioning in bilateral perisylvian polymicrogyria (BPP): clinical and radiological correlations. (15820349)
2005
27
Prenatal ultrasound detection of bilateral focal polymicrogyria. (15503280)
2004
28
Electroclinical and magnetoencephalographic studies in epilepsy patients with polymicrogyria. (15579301)
2004
29
Bilateral generalized polymicrogyria (BGP): a distinct syndrome of cortical malformation. (15159468)
2004
30
Bilateral frontoparietal polymicrogyria: clinical and radiological features in 10 families with linkage to chromosome 16. (12730993)
2003
31
Unilateral schizencephaly and contralateral polymicrogyria associated with umbilical cord mass. (12731650)
2003
32
A3243G mitochondrial mutation associated with polymicrogyria. (14515943)
2003
33
Amyotrophic lateral sclerosis (ALS) and mirror movements in a patient with polymicrogyria. (14753662)
2003
34
Bilateral fronto-occipital polymicrogyria and epilepsy. (12185764)
2002
35
A locus for bilateral perisylvian polymicrogyria maps to Xq28. (11822025)
2002
36
Bilateral frontoparietal polymicrogyria and epilepsy. (10734259)
2000
37
Familial perisylvian polymicrogyria: a new familial syndrome of cortical maldevelopment. (10894214)
2000
38
22q11 deletion and polymicrogyria--cause or coincidence? (10955480)
2000
39
The postmigrational development of polymicrogyria documented by magnetic resonance imaging from 31 weeks' postconceptional age. (10360774)
1999
40
Focal epileptogenesis in a rat model of polymicrogyria. (9914277)
1999
41
Abdominal epilepsy in an adolescent with bilateral perisylvian polymicrogyria. (9860077)
1998
42
Polymicrogyria in chromosome 22 delection syndrome. (9818897)
1998
43
The pachygyria-polymicrogyria spectrum of cortical dysplasia in X-linked hydrocephalus. (9926316)
1998
44
Radiologic-pathologic correlation polymicrogyria. (9111668)
1997
45
Arthrogryposis multiplex congenita and bilateral parietal polymicrogyria in association with the intrauterine death of a twin. (8677028)
1996
46
Cerebellar MR in Fukuyama congenital muscular dystrophy: polymicrogyria with cystic lesions. (7847224)
1994
47
Bilateral porencephalic defect and bilateral perisylvian polymicrogyria. (1810166)
1991
48
Developmental Foix-Chavany-Marie syndrome: polymicrogyria or macrogyria? (1694420)
1990
49
Autosomal recessive inheritance of polymicrogyria and dermatomyositis with paracrystalline inclusions. (2286022)
1990
50
A Golgi analysis of unlayered polymicrogyria. (6516803)
1984

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
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9.6OCLN, TUBA8, TUBB2A, TUBB2B, TUBA1A

Compounds for genes affiliated with Polymicrogyria

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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