MCID: PLY024
MIFTS: 34

Polymicrogyria malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Fetal diseases

Aliases & Classifications for Polymicrogyria

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Aliases & Descriptions for Polymicrogyria:

Name: Polymicrogyria 21 45 22 23 24 65
 
Pmg 23

Classifications:



External Ids:

UMLS65 C0266464

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 with optic nerve hypoplasia and band-like calcification with simplified gyration and polymicrogyria. An important gene associated with Polymicrogyria is ADGRG1 (Adhesion G Protein-Coupled Receptor G1), and among its related pathways are Phagosome and Regulation of CFTR activity (norm and CF). Affiliated tissues include brain, cortex and eye, 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 condition that affects the development of the human brain by multiple small... more...

GeneReviews summary for NBK1329

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 98)
idRelated DiseaseScoreTop Affiliating Genes
1polymicrogyria with optic nerve hypoplasia12.2
2band-like calcification with simplified gyration and polymicrogyria12.2
3polymicrogyria, bilateral perisylvian12.1
4megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 112.1
5bilateral generalized polymicrogyria12.1
6polymicrogyria, bilateral frontoparietal12.1
7bilateral frontal polymicrogyria12.1
8polymicrogyria with seizures12.1
9megalencephaly-capillary malformation-polymicrogyria syndrome, somatic12.0
10polymicrogyria, symmetric or asymmetric12.0
11megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 212.0
12megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 312.0
13polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis12.0
14polymicrogyria, bilateral temporooccipital12.0
15unilateral polymicrogyria12.0
16megalencephaly, polymicrogyria, and hydrocephalus syndrome11.9
17microcephaly with polymicrogyria11.9
18bilateral polymicrogyria11.9
19unilateral focal polymicrogyria11.9
20bilateral parasagittal parieto-occipital polymicrogyria11.8
21polymicrogyria turricephaly hypogenitalism11.8
22megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome, somatic11.8
23agyria pachygyria polymicrogyria11.7
24microcephaly-polymicrogyria-corpus callosum agenesis syndrome11.7
25occipital pachygyria and polymicrogyria11.7
26polymicrogyria due to tubb2b mutation11.7
27megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome11.7
28unilateral hemispheric polymicrogyria11.7
29congenital intrauterine infection-like syndrome11.0
30muscular dystrophy-dystroglycanopathy , type a, 410.8
31megalencephaly10.7
32hemimegalencephaly10.4
33neuronal migration disorders10.4
34hydrocephalus10.3
35polydactyly10.2
36schizencephaly10.1
37periventricular nodular heterotopia10.0
38neuronitis10.0
39pachygyria10.0
40status epilepticus10.0
41cortical malformations, occipital10.0
42cortical dysplasia, complex, with other brain malformations 110.0
43porencephaly9.9
44microcephaly9.9
45cerebritis9.9
46muscular dystrophy9.9
47neurofibromatosis, type 19.8
48holoprosencephaly9.8
49hemiplegia9.8
50hydranencephaly9.8

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 ADGRG1

Anatomical Context for Polymicrogyria

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MalaCards organs/tissues related to Polymicrogyria:

33
Brain, Cortex, Eye, Prostate, B cells, Breast, Lung

Animal Models for Polymicrogyria or affiliated genes

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MGI Mouse Phenotypes related to Polymicrogyria:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00036317.9ADGRG1, CCND2, OCLN, RTTN, TUBB2B

Publications for Polymicrogyria

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Articles related to Polymicrogyria:

(show top 50)    (show all 272)
idTitleAuthorsYear
1
The syndrome of polymicrogyria, thalamic hypoplasia, and epilepsy with CSWS. (26944271)
2016
2
Bilateral Frontoparietal Polymicrogyria: A Novel GPR56 Mutation and an Unusual Phenotype. (25642806)
2015
3
DTI-based tractography of the arcuate fasciculus in patients with polymicrogyria and language disorders. (26216794)
2015
4
Germline activating AKT3 mutation associated with megalencephaly, polymicrogyria, epilepsy and hypoglycemia. (25523067)
2015
5
An autopsy case of refractory epilepsy due to unilateral polymicrogyria in a 65-year-old man: Histogenesis of four-layered polymicrogyric cortex. (26094545)
2015
6
GPR56-Related Polymicrogyria: Clinicoradiologic Profile of 4 Patients. (25922261)
2015
7
Focal unilateral polymicrogyria and epilepsy surgery. (26112139)
2015
8
Recessive Mutations in POLR3B Encoding RNA Polymerase III Subunit Causing Diffuse Hypomyelination in Patients with 4H Leukodystrophy with Polymicrogyria and Cataracts. (26478204)
2015
9
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
10
Polymicrogyria: pathology, fetal origins and mechanisms. (25047116)
2014
11
Polymicrogyria with dysmorphic basal ganglia? Think tubulin! (23495813)
2013
12
Brain lipoma, corpus callosum hypoplasia and polymicrogyria in familial multiple lipomatosis. (23116686)
2013
13
Description of a novel TUBA1A mutation in Arg-390 associated with asymmetrical polymicrogyria and mid-hindbrain dysgenesis. (23317684)
2013
14
Banding pattern on polarized hair microscopic examination and unilateral polymicrogyria in a patient with steroid sulfatase deficiency. (21931015)
2012
15
Seizure susceptibility in polymicrogyria: clinical and experimental approaches. (21733659)
2011
16
Disease-associated GPR56 mutations cause bilateral frontoparietal polymicrogyria via multiple mechanisms. (21349848)
2011
17
Whole-exome sequencing identifies compound heterozygous mutations in WDR62 in siblings with recurrent polymicrogyria. (21834044)
2011
18
GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complex. (20929962)
2010
19
Fetal akinesia deformation sequence with delayed skeletal muscle maturation and polymicrogyria: evidence for a hypoxic/ischemic pathogenesis. (19968489)
2010
20
Mega-corpus callosum, polymicrogyria, and psychomotor retardation syndrome. (20117750)
2010
21
Polymicrogyria without epilepsy by aberrantly migrating inhibitory interneurons. (20579939)
2010
22
Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patients. (20403963)
2010
23
Polymicrogyria in fetal alcohol syndrome. (19764076)
2010
24
Cortical malformations: unfolding polymicrogyria. (20811463)
2010
25
Intralesional recordings and epileptogenic zone in focal polymicrogyria. (17868055)
2008
26
Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2. (18536050)
2008
27
Megalencephaly, polymicrogyria, and hydrocephalus (MPPH) syndrome: a new case with syndactyly. (18474936)
2008
28
Prenatal ultrasonographic diagnosis of polymicrogyria. (18991326)
2008
29
Bilateral mesial temporal polymicrogyria: a case report. (18344402)
2008
30
Microstructural white matter abnormalities in nodular heterotopia with overlying polymicrogyria. (17097893)
2007
31
Clinical and electroencephalographic features of patients with polymicrogyria. (17545827)
2007
32
Polymicrogyria and deletion 22q11.2 syndrome: window to the etiology of a common cortical malformation. (17036343)
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
Cutis verticis gyrata--mental deficiency syndrome: a patient with drug-resistant epilepsy and polymicrogyria. (8598189)
1996
47
Monozygous twin with polymicrogyria and normal co-twin. (7986297)
1994
48
Polymicrogyria: a case detected by MRI. (2774095)
1989
49
Absence of septum pellucidum and polymicrogyria: a forme fruste of the porencephalic syndrome. (2776383)
1989
50

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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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