PMG
MCID: PLY024
MIFTS: 39

Polymicrogyria (PMG) malady

Genetic diseases, Neuronal diseases, Fetal diseases, Rare diseases, Bone diseases categories
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Summaries for Polymicrogyria

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21Genetics Home Reference, 65Wikipedia, 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 lissencephaly and bilateral perisylvian polymicrogyria. An important gene associated with Polymicrogyria is GPR56 (G protein-coupled receptor 56), and among its related pathways is Development Slit Robo signaling. Affiliated tissues include brain, cortex and temporal lobe, and related mouse phenotypes are behavior/neurological and nervous system.

Wikipedia:65 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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19GeneReviews, 20GeneTests, 21Genetics Home Reference, 49Orphanet, 62UMLS, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet
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Classifications:



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 62
membranous lipodystrophy 62
pmg 21


External Ids:

ICD10 via Orphanet26 Q04.3
SNOMED-CT via Orphanet59 4945003
UMLS via Orphanet63 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 94)
idRelated DiseaseScoreTop Affiliating Genes
1lissencephaly29.8GPR56, TUBB2B
2bilateral perisylvian polymicrogyria10.6
3bilateral frontoparietal polymicrogyria10.6
4hydrocephalus10.4
5megalencephaly10.4
6unilateral polymicrogyria10.4
7polydactyly10.4
8megalencephaly, polymicrogyria, and hydrocephalus syndrome10.4
9pseudo-torch syndrome10.3
10megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome10.3
11bilateral frontal polymicrogyria10.3
12bilateral generalized polymicrogyria10.3
13schizencephaly10.3
14polymicrogyria with optic nerve hypoplasia10.3
15megalencephaly-capillary malformation-polymicrogyria syndrome, somatic10.3
16polymicrogyria, symmetric or asymmetric10.3
17bilateral parasagittal parieto-occipital polymicrogyria10.2
18pachygyria10.2
19status epilepticus10.2
20neuronitis10.2
21periventricular nodular heterotopia10.2
22cerebritis10.1
23agyria pachygyria polymicrogyria10.1
24polymicrogyria turricephaly hypogenitalism10.1
25porencephaly10.1
26polymicrogyria, asymmetric10.1
27mental retardation10.1
28polymicrogyria with seizures10.1
29unilateral focal polymicrogyria10.1
30neurofibromatosis10.0
31microcephaly10.0
32hydranencephaly10.0
33holoprosencephaly10.0
34joubert syndrome10.0
35hemiplegia10.0
36muscular dystrophy10.0
37corpus callosum agenesis10.0
38neuronal migration disorders10.0
39megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome, somatic10.0
40polymicrogyria, bilateral occipital10.0
41cortical malformations, occipital10.0
42microcephaly - polymicrogyria - corpus callosum agenesis10.0
43unilateral hemispheric polymicrogyria10.0
44attention deficit hyperactivity disorder9.9
45lateral sclerosis9.9
46aarskog-scott syndrome9.9
47bernard-soulier syndrome9.9
48focal dermal hypoplasia9.9
49landau-kleffner syndrome9.9
50cleft palate9.9

Graphical network of the top 20 diseases related to Polymicrogyria:



Diseases related to polymicrogyria

Symptoms for Polymicrogyria

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Drugs & Therapeutics for Polymicrogyria

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Polymicrogyria

Search NIH Clinical Center 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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33MalaCards
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MalaCards organs/tissues related to Polymicrogyria:

33
Brain, Cortex, Temporal lobe, Skeletal muscle, Pineal

Animal Models for Polymicrogyria or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Polymicrogyria:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053868.9OCLN, GPR56, TUBB2B
2MP:00036317.8OCLN, RTTN, GPR56, TUBB2B

Publications for Polymicrogyria

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52PubMed
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Articles related to Polymicrogyria:

(show top 50)    (show all 230)
idTitleAuthorsYear
1
Polymicrogyria with dysmorphic basal ganglia? Think tubulin! (23495813)
2013
2
Brain lipoma, corpus callosum hypoplasia and polymicrogyria in familial multiple lipomatosis. (23116686)
2013
3
Description of a novel TUBA1A mutation in Arg-390 associated with asymmetrical polymicrogyria and mid-hindbrain dysgenesis. (23317684)
2013
4
A mutation in Tubb2b, a human polymicrogyria gene, leads to lethality and abnormal cortical development in the mouse. (23727838)
2013
5
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
6
Banding pattern on polarized hair microscopic examination and unilateral polymicrogyria in a patient with steroid sulfatase deficiency. (21931015)
2012
7
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
8
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
9
Seizure susceptibility in polymicrogyria: clinical and experimental approaches. (21733659)
2011
10
Disease-associated GPR56 mutations cause bilateral frontoparietal polymicrogyria via multiple mechanisms. (21349848)
2011
11
Whole-exome sequencing identifies compound heterozygous mutations in WDR62 in siblings with recurrent polymicrogyria. (21834044)
2011
12
Polymicrogyria and infantile spasms in a patient with 1p36 deletion syndrome. (20708863)
2011
13
GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complex. (20929962)
2010
14
Fetal akinesia deformation sequence with delayed skeletal muscle maturation and polymicrogyria: evidence for a hypoxic/ischemic pathogenesis. (19968489)
2010
15
Mega-corpus callosum, polymicrogyria, and psychomotor retardation syndrome. (20117750)
2010
16
Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patients. (20403963)
2010
17
Polymicrogyria in fetal alcohol syndrome. (19764076)
2010
18
Cortical malformations: unfolding polymicrogyria. (20811463)
2010
19
Bilateral polymicrogyria as the indicative feature in a child with a 22q11.2 deletion. (20553986)
2010
20
Intralesional recordings and epileptogenic zone in focal polymicrogyria. (17868055)
2008
21
Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2. (18536050)
2008
22
Megalencephaly, polymicrogyria, and hydrocephalus (MPPH) syndrome: a new case with syndactyly. (18474936)
2008
23
Prenatal ultrasonographic diagnosis of polymicrogyria. (18991326)
2008
24
Bilateral mesial temporal polymicrogyria: a case report. (18344402)
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
Polymicrogyria and deletion 22q11.2 syndrome: window to the etiology of a common cortical malformation. (17036343)
2006
28
Diffusion tensor imaging in polymicrogyria: a report of three cases. (16607542)
2006
29
Increased mirror movements after epileptic seizure in a case of polymicrogyria. (16534448)
2006
30
Source analysis of interictal spikes in polymicrogyria: loss of relevant cortical fissures requires simultaneous EEG to avoid MEG misinterpretation. (15850741)
2005
31
Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus: a rare brain malformation syndrome associated with mental retardation and seizures. (15627943)
2004
32
Prenatal ultrasound detection of bilateral focal polymicrogyria. (15503280)
2004
33
New syndrome: focal dermal hypoplasia, morning glory anomaly, and polymicrogyria. (14699622)
2004
34
Attention-deficit/hyperactivity disorder, speech delay and polymicrogyria associated with trisomy 18 mosaicism. (15517833)
2004
35
Unilateral closed-lip schizencephaly and epilepsy: a comparison with cases of unilateral polymicrogyria. (15030902)
2004
36
Polymicrogyria in monozygous twins and an elder sibling. (12828405)
2003
37
Epilepsy and perisylvian polymicrogyria in a patient with Kabuki syndrome. (14667078)
2003
38
Bilateral frontoparietal polymicrogyria: clinical and radiological features in 10 families with linkage to chromosome 16. (12730993)
2003
39
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
40
Focal polymicrogyria, continuous spike-and-wave discharges during slow-wave sleep and Cohen syndrome: a case report. (12907281)
2003
41
A particular type of epilepsy in children with congenital hemiparesis associated with unilateral polymicrogyria. (10403209)
1999
42
Congenital bilateral perisylvian polymicrogyria presenting as congenital hemiplegia. (9633745)
1998
43
Multilobar polymicrogyria, intractable drop attack seizures, and sleep-related electrical status epilepticus. (9710026)
1998
44
Abdominal epilepsy in an adolescent with bilateral perisylvian polymicrogyria. (9860077)
1998
45
Cutis verticis gyrata--mental deficiency syndrome: a patient with drug-resistant epilepsy and polymicrogyria. (8598189)
1996
46
Diffuse polymicrogyria associated with an unusual pattern of multiple congenital anomalies including turribrachycephaly and hypogenitalism. (8723127)
1996
47
Correlation of prenatal events with the development of polymicrogyria. (7611049)
1995
48
Monozygous twin with polymicrogyria and normal co-twin. (7986297)
1994
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

Variations for Polymicrogyria

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Polymicrogyria:

1
id Gene Name Type Significance SNP ID Assembly Location
1TREM2NM_018965.3(TREM2): c.233G> A (p.Trp78Ter)single nucleotide variantPathogenicrs104893998GRCh37Chr 6, 41129159: 41129159
2TREM2NM_018965.3(TREM2): c.558G> T (p.Lys186Asn)single nucleotide variantPathogenicrs28937876GRCh37Chr 6, 41126729: 41126729
3TREM2NM_018965.3(TREM2): c.401A> G (p.Asp134Gly)single nucleotide variantPathogenicrs28939079GRCh37Chr 6, 41127611: 41127611
4TREM2NM_018965.3(TREM2): c.132G> A (p.Trp44Ter)single nucleotide variantPathogenicrs104894001GRCh37Chr 6, 41129260: 41129260
5TREM2NM_018965.3(TREM2): c.377T> G (p.Val126Gly)single nucleotide variantPathogenicrs121908402GRCh37Chr 6, 41129015: 41129015
6TREM2NM_018965.3(TREM2): c.97C> T (p.Gln33Ter)single nucleotide variantPathogenicrs104894002GRCh37Chr 6, 41129295: 41129295
7TYROBPNM_001173514.1(TYROBP): c.2T> C (p.Met1Thr)single nucleotide variantPathogenicrs104894732GRCh37Chr 19, 36399129: 36399129

Expression for genes affiliated with Polymicrogyria

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Polymicrogyria

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Pathways for genes affiliated with Polymicrogyria

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50PathCards, 60Thomson Reuters, 38NCBI BioSystems Database, 12EMD Millipore, 30KEGG
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Pathways related to Polymicrogyria according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Neurophysiological process Receptor mediated axon growth repulsion60
Pathogenic Escherichia coli infection38
9.3OCLN, TUBB2B

Compounds for genes affiliated with Polymicrogyria

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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 junctionGO:0300549.3SRPX2, OCLN

Biological processes related to Polymicrogyria according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1angiogenesisGO:0015259.5SRPX2, GPR56

Products for genes affiliated with Polymicrogyria

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Sources for Polymicrogyria

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet