MCID: PLY024
MIFTS: 33

Polymicrogyria malady

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

Aliases & Classifications for Polymicrogyria

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Aliases & Descriptions for Polymicrogyria:

Name: Polymicrogyria 21 45 22 23
 
Pmg 23


Classifications:



Summaries for Polymicrogyria

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NIH Rare Diseases:45 Polymicrogyria is a condition characterized by abnormal development of the brain before birth. specifically, the surface of the brain develops too many folds which are unusually small. the signs and symptoms associated with the condition vary based on how much of the brain and which areas of the brain are affected; however, affected people may experience recurrent seizures (epilepsy); delayed development; crossed eyes; problems with speech and swallowing; and muscle weakness or paralysis. bilateral forms (affecting both sides of the brain) tend to cause more severe neurological problems. polymicrogyria can result from both genetic and environmental causes. it may occur as an isolated finding or as part of a syndrome. treatment is based on the signs and symptoms present in each person. last updated: 10/12/2015

MalaCards based summary: Polymicrogyria, also known as pmg, is related to polymicrogyria, bilateral perisylvian and polymicrogyria, bilateral frontoparietal. An important gene associated with Polymicrogyria is TUBB2B (Tubulin, Beta 2B Class IIb), and among its related pathways are Phagosome and Regulation of CFTR activity (norm and CF). Affiliated tissues include brain, eye and cortex, and related mouse phenotype nervous system.

Genetics Home Reference:23 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.

Wikipedia:68 Polymicrogyria (PMG) is a developmental malformation of the human brain characterized by an excessive... more...

GeneReviews summary for poly

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 135)
idRelated DiseaseScoreTop Affiliating Genes
1polymicrogyria, bilateral perisylvian10.6
2polymicrogyria, bilateral frontoparietal10.5
3polymicrogyria with optic nerve hypoplasia10.5
4megalencephaly10.5
5unilateral polymicrogyria10.5
6megalencephaly-capillary malformation-polymicrogyria syndrome, somatic10.5
7hydrocephalus10.5
8band-like calcification with simplified gyration and polymicrogyria10.4
9megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 110.4
10polymicrogyria, symmetric or asymmetric10.4
11polymicrogyria with seizures10.4
12polydactyly10.4
13bilateral frontal polymicrogyria10.4
14bilateral generalized polymicrogyria10.4
15megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 210.4
16megalencephaly, polymicrogyria, and hydrocephalus syndrome10.4
17megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 310.4
18polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis10.4
19bilateral polymicrogyria10.4
20polymicrogyria, bilateral temporooccipital10.3
21schizencephaly10.3
22periventricular nodular heterotopia10.3
23neuronitis10.3
24bilateral parasagittal parieto-occipital polymicrogyria10.3
25pachygyria10.3
26status epilepticus10.2
27agyria pachygyria polymicrogyria10.2
28polymicrogyria turricephaly hypogenitalism10.2
29microcephaly with polymicrogyria10.2
30unilateral focal polymicrogyria10.2
31cortical dysplasia, complex, with other brain malformations 110.1
32cerebritis10.1
33microcephaly10.1
34porencephaly10.1
35muscular dystrophy10.1
36congenital intrauterine infection-like syndrome10.1
37megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome, somatic10.1
38microcephaly - polymicrogyria - corpus callosum agenesis10.1
39occipital pachygyria and polymicrogyria10.1
40polymicrogyria due to tubb2b mutation10.1
41megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus10.1
42unilateral hemispheric polymicrogyria10.1
43cortical dysplasia, complex, with other brain malformations 210.1
44cortical dysplasia, complex, with other brain malformations 610.1
45muscular dystrophy-dystroglycanopathy , type a, 410.1
46cortical malformations, occipital10.1
47neurofibromatosis, type 110.1
48holoprosencephaly10.1
49hydranencephaly10.1
50neurofibromatosis10.1

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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Interventional clinical trials:

idNameStatusNCT IDPhase
1Phenotypic and Genotypic Studies in Congenital and Early Onset AtaxiasCompletedNCT01488461
2Brain Development Research ProgramRecruitingNCT00305305
3Human Epilepsy Genetics--Neuronal Migration Disorders StudyRecruitingNCT00041600
4Epilepsy Phenome/Genome ProjectActive, not recruitingNCT00552045

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Genetic Tests for Polymicrogyria

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Genetic tests related to Polymicrogyria:

id Genetic test Affiliating Genes
1 Polymicrogyria22

Anatomical Context for Polymicrogyria

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MalaCards organs/tissues related to Polymicrogyria:

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

Animal Models for Polymicrogyria or affiliated genes

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MGI Mouse Phenotypes related to Polymicrogyria:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00036317.7CCND2, FIG4, OCLN, RTTN, TUBB2B

Publications for Polymicrogyria

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Articles related to Polymicrogyria:

(show top 50)    (show all 259)
idTitleAuthorsYear
1
Bilateral Frontoparietal Polymicrogyria: A Novel GPR56 Mutation and an Unusual Phenotype. (25642806)
2015
2
DTI-based tractography of the arcuate fasciculus in patients with polymicrogyria and language disorders. (26216794)
2015
3
Germline activating AKT3 mutation associated with megalencephaly, polymicrogyria, epilepsy and hypoglycemia. (25523067)
2015
4
An autopsy case of refractory epilepsy due to unilateral polymicrogyria in a 65-year-old man: Histogenesis of four-layered polymicrogyric cortex. (26094545)
2015
5
GPR56-Related Polymicrogyria: Clinicoradiologic Profile of 4 Patients. (25922261)
2015
6
Focal unilateral polymicrogyria and epilepsy surgery. (26112139)
2015
7
Recessive Mutations in POLR3B Encoding RNA Polymerase III Subunit Causing Diffuse Hypomyelination in Patients with 4H Leukodystrophy with Polymicrogyria and Cataracts. (26478204)
2015
8
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
9
Polymicrogyria: pathology, fetal origins and mechanisms. (25047116)
2014
10
Polymicrogyria with dysmorphic basal ganglia? Think tubulin! (23495813)
2013
11
Brain lipoma, corpus callosum hypoplasia and polymicrogyria in familial multiple lipomatosis. (23116686)
2013
12
Description of a novel TUBA1A mutation in Arg-390 associated with asymmetrical polymicrogyria and mid-hindbrain dysgenesis. (23317684)
2013
13
Banding pattern on polarized hair microscopic examination and unilateral polymicrogyria in a patient with steroid sulfatase deficiency. (21931015)
2012
14
Seizure susceptibility in polymicrogyria: clinical and experimental approaches. (21733659)
2011
15
Disease-associated GPR56 mutations cause bilateral frontoparietal polymicrogyria via multiple mechanisms. (21349848)
2011
16
Whole-exome sequencing identifies compound heterozygous mutations in WDR62 in siblings with recurrent polymicrogyria. (21834044)
2011
17
GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complex. (20929962)
2010
18
Fetal akinesia deformation sequence with delayed skeletal muscle maturation and polymicrogyria: evidence for a hypoxic/ischemic pathogenesis. (19968489)
2010
19
Mega-corpus callosum, polymicrogyria, and psychomotor retardation syndrome. (20117750)
2010
20
Polymicrogyria without epilepsy by aberrantly migrating inhibitory interneurons. (20579939)
2010
21
Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patients. (20403963)
2010
22
Polymicrogyria in fetal alcohol syndrome. (19764076)
2010
23
Cortical malformations: unfolding polymicrogyria. (20811463)
2010
24
Intralesional recordings and epileptogenic zone in focal polymicrogyria. (17868055)
2008
25
Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2. (18536050)
2008
26
Megalencephaly, polymicrogyria, and hydrocephalus (MPPH) syndrome: a new case with syndactyly. (18474936)
2008
27
Prenatal ultrasonographic diagnosis of polymicrogyria. (18991326)
2008
28
Bilateral mesial temporal polymicrogyria: a case report. (18344402)
2008
29
Microstructural white matter abnormalities in nodular heterotopia with overlying polymicrogyria. (17097893)
2007
30
Clinical and electroencephalographic features of patients with polymicrogyria. (17545827)
2007
31
Polymicrogyria and deletion 22q11.2 syndrome: window to the etiology of a common cortical malformation. (17036343)
2006
32
Diffusion tensor imaging in polymicrogyria: a report of three cases. (16607542)
2006
33
Source analysis of interictal spikes in polymicrogyria: loss of relevant cortical fissures requires simultaneous EEG to avoid MEG misinterpretation. (15850741)
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
Prenatal ultrasound detection of bilateral focal polymicrogyria. (15503280)
2004
36
New syndrome: focal dermal hypoplasia, morning glory anomaly, and polymicrogyria. (14699622)
2004
37
Attention-deficit/hyperactivity disorder, speech delay and polymicrogyria associated with trisomy 18 mosaicism. (15517833)
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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GO Terms for genes affiliated with Polymicrogyria

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

idNameGO IDScoreTop Affiliating Genes
1microtubule-based processGO:00070179.6TUBA8, TUBB2B
2protein polymerizationGO:00512589.4TUBA8, TUBB2B

Molecular functions related to Polymicrogyria according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1structural constituent of cytoskeletonGO:00052009.4TUBA8, TUBB2B

Sources for Polymicrogyria

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet