PMG
MCID: PLY024
MIFTS: 34

Polymicrogyria (PMG) malady

Genetic diseases (common) category
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Summaries for Polymicrogyria

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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 based summary: Polymicrogyria, also known as PMG, 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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Polymicrogyria, Aliases & Descriptions:

Name: Polymicrogyria 19 20 21
 
Pmg 21


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


Related Diseases for Polymicrogyria

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

(show top 50)    (show all 95)
idRelated DiseaseScoreTop Affiliating Genes
1lissencephaly29.9GPR56, TUBB2B
2bilateral perisylvian polymicrogyria10.7
3bilateral frontoparietal polymicrogyria10.6
4megalencephaly10.5
5hydrocephalus10.4
6polydactyly10.4
7unilateral polymicrogyria10.4
8megalencephaly, polymicrogyria, and hydrocephalus syndrome10.4
9pseudo-torch syndrome10.3
10polymicrogyria with optic nerve hypoplasia10.3
11megalencephaly-capillary malformation-polymicrogyria syndrome, somatic10.3
12bilateral frontal polymicrogyria10.3
13bilateral generalized polymicrogyria10.3
14schizencephaly10.3
15polymicrogyria, symmetric or asymmetric10.3
16periventricular nodular heterotopia10.2
17megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 110.2
18status epilepticus10.2
19neuronitis10.2
20pachygyria10.2
21polymicrogyria with seizures10.2
22microcephaly10.1
23cerebritis10.1
24muscular dystrophy10.1
25agyria pachygyria polymicrogyria10.1
26bilateral parasagittal parieto-occipital polymicrogyria10.1
27polymicrogyria turricephaly hypogenitalism10.1
28porencephaly10.1
29polymicrogyria, asymmetric10.1
30mental retardation10.1
31megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 210.1
32polymicrogyria, bilateral temporooccipital10.1
33megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 310.1
34unilateral focal polymicrogyria10.1
35holoprosencephaly10.0
36hydranencephaly10.0
37neurofibromatosis10.0
38joubert syndrome10.0
39congenital muscular dystrophy10.0
40hemiplegia10.0
41agenesis of the corpus callosum10.0
42fukuyama type muscular dystrophy10.0
43megalencephaly-capillary malformation syndrome10.0
44neuronal migration disorders10.0
45polymicrogyria, bilateral occipital10.0
46cortical malformations, occipital10.0
47microcephaly - polymicrogyria - corpus callosum agenesis10.0
48unilateral hemispheric polymicrogyria10.0
49attention deficit hyperactivity disorder9.9
50amyotrophic lateral sclerosis9.9

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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Drug clinical trials:

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Search NIH Clinical Center for Polymicrogyria

Genetic Tests for Polymicrogyria

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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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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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MGI Mouse Phenotypes related to Polymicrogyria:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053868.9OCLN, GPR56, TUBB2B
2MP:00036317.8OCLN, RTTN, GPR56, TUBB2B

Publications for Polymicrogyria

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Articles related to Polymicrogyria:

(show top 50)    (show all 241)
idTitleAuthorsYear
1
Polymicrogyria, Large Corpus Callosum and Psychomotor Retardation in Four-Year-Old Girl: Potential Association Based on MR Findings. A Case Report and Literature Review. (25260206)
2014
2
Polymicrogyria: pathology, fetal origins and mechanisms. (25047116)
2014
3
Ultra-High-Field MR Imaging in Polymicrogyria and Epilepsy. (25258368)
2014
4
Polymicrogyria with dysmorphic basal ganglia? Think tubulin! (23495813)
2013
5
Brain lipoma, corpus callosum hypoplasia and polymicrogyria in familial multiple lipomatosis. (23116686)
2013
6
Description of a novel TUBA1A mutation in Arg-390 associated with asymmetrical polymicrogyria and mid-hindbrain dysgenesis. (23317684)
2013
7
A mutation in Tubb2b, a human polymicrogyria gene, leads to lethality and abnormal cortical development in the mouse. (23727838)
2013
8
Banding pattern on polarized hair microscopic examination and unilateral polymicrogyria in a patient with steroid sulfatase deficiency. (21931015)
2012
9
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
10
Seizure susceptibility in polymicrogyria: clinical and experimental approaches. (21733659)
2011
11
Disease-associated GPR56 mutations cause bilateral frontoparietal polymicrogyria via multiple mechanisms. (21349848)
2011
12
Whole-exome sequencing identifies compound heterozygous mutations in WDR62 in siblings with recurrent polymicrogyria. (21834044)
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
Polymicrogyria without epilepsy by aberrantly migrating inhibitory interneurons. (20579939)
2010
17
Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patients. (20403963)
2010
18
Polymicrogyria in fetal alcohol syndrome. (19764076)
2010
19
Cortical malformations: unfolding polymicrogyria. (20811463)
2010
20
Bilateral polymicrogyria as the indicative feature in a child with a 22q11.2 deletion. (20553986)
2010
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
Megalencephaly, polymicrogyria, and hydrocephalus (MPPH) syndrome: a new case with syndactyly. (18474936)
2008
24
Prenatal ultrasonographic diagnosis of polymicrogyria. (18991326)
2008
25
Bilateral mesial temporal polymicrogyria: a case report. (18344402)
2008
26
Microstructural white matter abnormalities in nodular heterotopia with overlying polymicrogyria. (17097893)
2007
27
Clinical and electroencephalographic features of patients with polymicrogyria. (17545827)
2007
28
Polymicrogyria and deletion 22q11.2 syndrome: window to the etiology of a common cortical malformation. (17036343)
2006
29
Diffusion tensor imaging in polymicrogyria: a report of three cases. (16607542)
2006
30
Increased mirror movements after epileptic seizure in a case of polymicrogyria. (16534448)
2006
31
Source analysis of interictal spikes in polymicrogyria: loss of relevant cortical fissures requires simultaneous EEG to avoid MEG misinterpretation. (15850741)
2005
32
Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus: a rare brain malformation syndrome associated with mental retardation and seizures. (15627943)
2004
33
Prenatal ultrasound detection of bilateral focal polymicrogyria. (15503280)
2004
34
New syndrome: focal dermal hypoplasia, morning glory anomaly, and polymicrogyria. (14699622)
2004
35
Attention-deficit/hyperactivity disorder, speech delay and polymicrogyria associated with trisomy 18 mosaicism. (15517833)
2004
36
Unilateral closed-lip schizencephaly and epilepsy: a comparison with cases of unilateral polymicrogyria. (15030902)
2004
37
Polymicrogyria in monozygous twins and an elder sibling. (12828405)
2003
38
Epilepsy and perisylvian polymicrogyria in a patient with Kabuki syndrome. (14667078)
2003
39
Bilateral frontoparietal polymicrogyria: clinical and radiological features in 10 families with linkage to chromosome 16. (12730993)
2003
40
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
41
Focal polymicrogyria, continuous spike-and-wave discharges during slow-wave sleep and Cohen syndrome: a case report. (12907281)
2003
42
A particular type of epilepsy in children with congenital hemiparesis associated with unilateral polymicrogyria. (10403209)
1999
43
Congenital bilateral perisylvian polymicrogyria presenting as congenital hemiplegia. (9633745)
1998
44
Multilobar polymicrogyria, intractable drop attack seizures, and sleep-related electrical status epilepticus. (9710026)
1998
45
Abdominal epilepsy in an adolescent with bilateral perisylvian polymicrogyria. (9860077)
1998
46
Cutis verticis gyrata--mental deficiency syndrome: a patient with drug-resistant epilepsy and polymicrogyria. (8598189)
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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Expression for genes affiliated with Polymicrogyria

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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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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 infection37
9.3OCLN, TUBB2B

Compounds for genes affiliated with Polymicrogyria

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GO Terms for genes affiliated with Polymicrogyria

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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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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet