MCID: PLY024
MIFTS: 31

Polymicrogyria malady

Genetic diseases, Neuronal diseases, Fetal diseases, Rare diseases categories

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 polymicrogyria, bilateral perisylvian. 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: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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Polymicrogyria, Aliases & Descriptions:

Name: Polymicrogyria 19 20 21
 
Pmg 21


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Fetal diseases, Rare diseases
Anatomical: Neuronal diseases


Related Diseases for Polymicrogyria

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Diseases in the Polymicrogyria family:

Polymicrogyria Due to Tubb2b Mutation

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

(show top 50)    (show all 126)
idRelated DiseaseScoreTop Affiliating Genes
1lissencephaly29.9GPR56, TUBB2B
2polymicrogyria, bilateral perisylvian10.5
3polymicrogyria, bilateral frontoparietal10.5
4hydrocephalus10.4
5megalencephaly-capillary malformation-polymicrogyria syndrome, somatic10.4
6unilateral polymicrogyria10.4
7polydactyly10.4
8band-like calcification with simplified gyration and polymicrogyria10.4
9polymicrogyria with optic nerve hypoplasia10.4
10megalencephaly, polymicrogyria, and hydrocephalus syndrome10.4
11bilateral frontal polymicrogyria10.3
12bilateral generalized polymicrogyria10.3
13bilateral polymicrogyria10.3
14polymicrogyria, symmetric or asymmetric10.3
15polymicrogyria with seizures10.3
16schizencephaly10.3
17megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 110.3
18megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 210.2
19megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 310.2
20neuronitis10.2
21periventricular nodular heterotopia10.2
22bilateral parasagittal parieto-occipital polymicrogyria10.2
23pachygyria10.2
24status epilepticus10.2
25agyria pachygyria polymicrogyria10.2
26polymicrogyria turricephaly hypogenitalism10.2
27polymicrogyria, asymmetric10.2
28unilateral focal polymicrogyria10.2
29polymicrogyria, bilateral temporooccipital10.1
30microcephaly10.1
31cerebritis10.1
32porencephaly10.1
33muscular dystrophy10.1
34mental retardation10.1
35microcephaly - polymicrogyria - corpus callosum agenesis10.1
36occipital pachygyria and polymicrogyria10.1
37polymicrogyria due to tubb2b mutation10.1
38megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus10.1
39unilateral hemispheric polymicrogyria10.1
40muscular dystrophy-dystroglycanopathy , type a, 410.0
41cortical dysplasia, complex, with other brain malformations 110.0
42holoprosencephaly10.0
43hydranencephaly10.0
44hemiplegia10.0
45agenesis of the corpus callosum10.0
46cerebellar hypoplasia10.0
47neuronal migration disorders10.0
48chromosome 1p36 deletion syndrome9.9
49muscular dystrophy-dystroglycanopathy , type a, 39.9
50chudley-mccullough syndrome9.9

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:

Search ClinicalTrials for Polymicrogyria

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:

31
Brain, Cortex, Temporal lobe, Skeletal muscle, Pineal, Pituitary

Animal Models for Polymicrogyria or affiliated genes

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MGI Mouse Phenotypes related to Polymicrogyria:

35
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 248)
idTitleAuthorsYear
1
Bilateral Frontoparietal Polymicrogyria: A Novel GPR56 Mutation and an Unusual Phenotype. (25642806)
2015
2
Germline activating AKT3 mutation associated with megalencephaly, polymicrogyria, epilepsy and hypoglycemia. (25523067)
2015
3
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
4
Polymicrogyria: pathology, fetal origins and mechanisms. (25047116)
2014
5
Ultra-High-Field MR Imaging in Polymicrogyria and Epilepsy. (25258368)
2014
6
Polymicrogyria with dysmorphic basal ganglia? Think tubulin! (23495813)
2013
7
Brain lipoma, corpus callosum hypoplasia and polymicrogyria in familial multiple lipomatosis. (23116686)
2013
8
Description of a novel TUBA1A mutation in Arg-390 associated with asymmetrical polymicrogyria and mid-hindbrain dysgenesis. (23317684)
2013
9
Banding pattern on polarized hair microscopic examination and unilateral polymicrogyria in a patient with steroid sulfatase deficiency. (21931015)
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
Polymicrogyria and infantile spasms in a patient with 1p36 deletion syndrome. (20708863)
2011
14
GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complex. (20929962)
2010
15
Fetal akinesia deformation sequence with delayed skeletal muscle maturation and polymicrogyria: evidence for a hypoxic/ischemic pathogenesis. (19968489)
2010
16
Mega-corpus callosum, polymicrogyria, and psychomotor retardation syndrome. (20117750)
2010
17
Polymicrogyria without epilepsy by aberrantly migrating inhibitory interneurons. (20579939)
2010
18
Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patients. (20403963)
2010
19
Polymicrogyria in fetal alcohol syndrome. (19764076)
2010
20
Cortical malformations: unfolding polymicrogyria. (20811463)
2010
21
Bilateral polymicrogyria as the indicative feature in a child with a 22q11.2 deletion. (20553986)
2010
22
Intralesional recordings and epileptogenic zone in focal polymicrogyria. (17868055)
2008
23
Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2. (18536050)
2008
24
Megalencephaly, polymicrogyria, and hydrocephalus (MPPH) syndrome: a new case with syndactyly. (18474936)
2008
25
Prenatal ultrasonographic diagnosis of polymicrogyria. (18991326)
2008
26
Bilateral mesial temporal polymicrogyria: a case report. (18344402)
2008
27
Microstructural white matter abnormalities in nodular heterotopia with overlying polymicrogyria. (17097893)
2007
28
Clinical and electroencephalographic features of patients with polymicrogyria. (17545827)
2007
29
Polymicrogyria and deletion 22q11.2 syndrome: window to the etiology of a common cortical malformation. (17036343)
2006
30
Diffusion tensor imaging in polymicrogyria: a report of three cases. (16607542)
2006
31
Increased mirror movements after epileptic seizure in a case of polymicrogyria. (16534448)
2006
32
Source analysis of interictal spikes in polymicrogyria: loss of relevant cortical fissures requires simultaneous EEG to avoid MEG misinterpretation. (15850741)
2005
33
Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus: a rare brain malformation syndrome associated with mental retardation and seizures. (15627943)
2004
34
Prenatal ultrasound detection of bilateral focal polymicrogyria. (15503280)
2004
35
New syndrome: focal dermal hypoplasia, morning glory anomaly, and polymicrogyria. (14699622)
2004
36
Attention-deficit/hyperactivity disorder, speech delay and polymicrogyria associated with trisomy 18 mosaicism. (15517833)
2004
37
Unilateral closed-lip schizencephaly and epilepsy: a comparison with cases of unilateral polymicrogyria. (15030902)
2004
38
Polymicrogyria in monozygous twins and an elder sibling. (12828405)
2003
39
Epilepsy and perisylvian polymicrogyria in a patient with Kabuki syndrome. (14667078)
2003
40
Bilateral frontoparietal polymicrogyria: clinical and radiological features in 10 families with linkage to chromosome 16. (12730993)
2003
41
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
42
Focal polymicrogyria, continuous spike-and-wave discharges during slow-wave sleep and Cohen syndrome: a case report. (12907281)
2003
43
A particular type of epilepsy in children with congenital hemiparesis associated with unilateral polymicrogyria. (10403209)
1999
44
Congenital bilateral perisylvian polymicrogyria presenting as congenital hemiplegia. (9633745)
1998
45
Multilobar polymicrogyria, intractable drop attack seizures, and sleep-related electrical status epilepticus. (9710026)
1998
46
Abdominal epilepsy in an adolescent with bilateral perisylvian polymicrogyria. (9860077)
1998
47
Cutis verticis gyrata--mental deficiency syndrome: a patient with drug-resistant epilepsy and polymicrogyria. (8598189)
1996
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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Search GEO for disease gene expression data for Polymicrogyria.

Pathways for genes affiliated with Polymicrogyria

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Pathways related to Polymicrogyria according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Neurophysiological process Receptor mediated axon growth repulsion58
Pathogenic Escherichia coli infection36
Cytoskeleton remodeling Slit Robo signaling
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 Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cell junctionGO:00300549.3SRPX2, OCLN

Biological processes related to Polymicrogyria according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1angiogenesisGO:00015259.5SRPX2, 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
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet