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, bilateral perisylvian and megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1. 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 234)
idRelated DiseaseScoreTop Affiliating Genes
1polymicrogyria, bilateral perisylvian12.5
2megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 112.5
3polymicrogyria, bilateral frontoparietal12.5
4polymicrogyria with optic nerve hypoplasia12.5
5band-like calcification with simplified gyration and polymicrogyria12.5
6polymicrogyria with seizures12.5
7megalencephaly-capillary malformation-polymicrogyria syndrome, somatic12.4
8polymicrogyria, symmetric or asymmetric12.4
9megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 212.4
10megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 312.4
11polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis12.4
12bilateral generalized polymicrogyria12.4
13polymicrogyria, bilateral temporooccipital12.4
14bilateral frontal polymicrogyria12.3
15megalencephaly, polymicrogyria, and hydrocephalus syndrome12.3
16bilateral parasagittal parieto-occipital polymicrogyria12.2
17polymicrogyria turricephaly hypogenitalism12.2
18megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome, somatic12.2
19microcephaly with polymicrogyria12.2
20unilateral polymicrogyria12.2
21agyria pachygyria polymicrogyria12.1
22microcephaly-polymicrogyria-corpus callosum agenesis syndrome12.1
23bilateral polymicrogyria12.1
24unilateral focal polymicrogyria12.1
25occipital pachygyria and polymicrogyria12.1
26polymicrogyria due to tubb2b mutation12.1
27megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome12.1
28unilateral hemispheric polymicrogyria12.1
29congenital intrauterine infection-like syndrome11.4
30muscular dystrophy-dystroglycanopathy , type a, 411.2
31breast cancer10.4
32cortical malformations, occipital10.4
33cortical dysplasia, complex, with other brain malformations 110.4
34leukemia10.3
35thyroiditis10.3
36hepatitis10.2
37endotheliitis10.2
38cortical dysplasia, complex, with other brain malformations 210.2
39cortical dysplasia, complex, with other brain malformations 610.2
40hemimegalencephaly10.2
41megalencephaly10.2
42neuronal migration disorders10.2
43tuberculosis10.2
44rheumatoid arthritis10.1
45lung cancer10.1
46hiv-110.1
47retinoblastoma10.1
48alopecia10.1
49arthritis10.1
50chronic lymphocytic leukemia10.1

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 ADGRG1

Anatomical Context for Polymicrogyria

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MalaCards organs/tissues related to Polymicrogyria:

33
Brain, Cortex, Eye, Breast, Prostate, T cells, Kidney

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 260)
idTitleAuthorsYear
1
CYP2J2 attenuates metabolic dysfunction in diabetic mice by reducing hepatic inflammation via the PPARI^. (25389363)
2015
2
Relationship between EPHX2 gene polymorphisms and essential hypertension in Uygur, Kazakh, and Han. (25966114)
2015
3
Complex I and complex III inhibition specifically increase cytosolic hydrogen peroxide levels without inducing oxidative stress in HEK293 cells. (26516986)
2015
4
High sensitivity cardiac troponin T in patients with immunoglobulin light chain amyloidosis. (24402772)
2014
5
Thyrotoxic, hypokalemic periodic paralysis (THPP) in adolescents. (25153560)
2014
6
Early changes of procalcitonin predict bacteremia in patients with intensive care unit-acquired new fever. (23673095)
2013
7
Gastric variceal bleeding from segmentary idiopathic splenic vein stenosis with left-sided portal hypertension: An unappreciated complication of pregnancy. (23607892)
2013
8
Clinical outcomes of allogeneic stem cell transplantation for relapsed or refractory follicular lymphoma: a retrospective analysis by the Fukuoka Blood and Marrow Transplantation Group. (24043582)
2013
9
Post-autologous hematopoietic SCT engraftment syndrome: a single center experience. (21499317)
2012
10
Dyslexia, authorial identity, and approaches to learning and writing: a mixed methods study. (22583092)
2012
11
Establishing a serologic decision tree model of extrapulmonary tuberculosis by MALDI-TOF MS analysis. (21855247)
2011
12
Netrin-1 mediates early events in pancreatic adenocarcinoma progression, acting on tumor and endothelial cells. (20080097)
2010
13
Genetic variation in a metabolic signaling pathway and colon and rectal cancer risk: mTOR, PTEN, STK11, RPKAA1, PRKAG2, TSC1, TSC2, PI3K and Akt1. (20622004)
2010
14
Characterization of high molecular weight multimeric states of human haptoglobin and hemoglobin-based oxygen carriers by high-mass MALDI MS. (19296479)
2009
15
A rabbit model of pediatric nonalcoholic steatohepatitis: the role of adiponectin. (19248189)
2009
16
BAX inhibitor-1 is a negative regulator of the ER stress sensor IRE1alpha. (19328063)
2009
17
Conservative therapy in placenta accreta: unexpected problems after drug-induced uterine contractions. (19906022)
2009
18
Venous function and pressure: what is their role in the management of spinal cord ischemia after thoracoabdominal aortic aneurysm repair? (18946312)
2008
19
Investigation on the possible relationship existing between the HLA-DR gene and attention deficit hyperactivity disorder and/or mental retardation. (19144284)
2008
20
Characterization of discriminant human brain antigenic targets in neuropsychiatric systemic lupus erythematosus using an immunoproteomic approach. (17907141)
2007
21
Part II. Eosinophilia-Myalgia Syndrome: further correlations between compromised histamine degradation, eosinophilias and myopathies. (17806156)
2007
22
Adiponectin in children with chronic kidney disease: role of adiposity and kidney dysfunction. (17699386)
2007
23
Characterization of glycation adducts on human serum albumin by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry. (17707360)
2007
24
Caspase-3 cleavage and nuclear localization of caspase-activated DNase in human temporal lobe epilepsy. (16121124)
2006
25
GABA(A)-receptor mRNA expression in the prefrontal and temporal cortex of ALS patients. (17011586)
2006
26
The dependence receptor DCC requires lipid raft localization for cell death signaling. (16537496)
2006
27
Meningoencephalitis as a presentation of Kawasaki disease. (17156704)
2006
28
Probing conformational changes of human serum albumin due to unsaturated fatty acid binding by chemical cross-linking and mass spectrometry. (15588254)
2005
29
Calcium/calmodulin-dependent kinase I and calcium/calmodulin-dependent kinase kinase participate in the control of cell cycle progression in MCF-7 human breast cancer cells. (15958590)
2005
30
Regulation of arachidonic acid availability for eicosanoid production. (15052324)
2004
31
Identification of relaxin-3/INSL7 as a ligand for GPCR142. (14522967)
2003
32
Characterization and transcriptional analysis of the mouse Chromosome 16 cytokine receptor gene cluster. (12584606)
2003
33
Allele A in intron 4 of ecNOS gene will not increase the risk of diabetic nephropathy in type 2 diabetes of Chinese population. (12138290)
2002
34
CAG polymorphic repeat lengths in androgen receptor gene among Japanese prostate cancer patients: potential predictor of prognosis after endocrine therapy. (11967956)
2002
35
Heat shock protein 27 prevents cellular polyglutamine toxicity and suppresses the increase of reactive oxygen species caused by huntingtin. (11978772)
2002
36
Predicting response to plasma exchange in patients with thrombotic thrombocytopenic purpura with measurement of vWF-cleaving protease activity. (12084165)
2002
37
Associations of blood pressure and hypertension with lead dose measures and polymorphisms in the vitamin D receptor and delta-aminolevulinic acid dehydratase genes. (11335187)
2001
38
Atypical prolymphocytic variant of hairy-cell leukemia: case report and review of the literature. (8892738)
1996
39
Role of alternatively spliced beta E-globin mRNA on clinical severity of beta-thalassemia/hemoglobin E disease. (8629114)
1995
40
Herniated cervical intervertebral discs spontaneously produce matrix metalloproteinases, nitric oxide, interleukin-6, and prostaglandin E2. (8578386)
1995
41
Surgical management of syndactyly in a dog. (7890572)
1994
42
Mutagen sensitivity and suppression of position-effect variegation result from mutations in mus209, the Drosophila gene encoding PCNA. (7907981)
1994
43
Insulin stimulates the activity of a novel protein kinase C, PKC-epsilon, in cultured fetal chick neurons. (2203768)
1990
44
Pulmonic stenosis caused by single coronary artery in dogs: four cases (1965-1984). (2295544)
1990
45
Epidermal growth factor receptor and tissue tumor markers in human intracranial neoplasms. (1965899)
1990
46
Human cysteine-proteinase inhibitors: nucleotide sequence analysis of three members of the cystatin gene family. (3446578)
1987
47
Gastrografin in acute meconium ileus equivalent. (3789794)
1986
48
Evaluation of aztreonam in experimental bacterial meningitis and cerebritis. (6362552)
1983
49
Twin-to-twin transfusion syndrome. (5198153)
1970
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