MCID: PCH002
MIFTS: 36

Pachygyria malady

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Pachygyria

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Aliases & Descriptions for Pachygyria:

Name: Pachygyria 45 22 65
Large Gyri of Cerebrum 45
 
Broad Gyri of Cerebrum 45
Macrogyria 45

Classifications:



Summaries for Pachygyria

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NIH Rare Diseases:45 Pachygyria is a developmental condition due to abnormal migration of nerve cells (neurons) in the developing brain and nervous system. with pachygyria, there are few gyri (the ridges between the wrinkles in the brain), and they are usually broad and flat. the condition is also known as "incomplete lissencephaly." pachygyria may occur alone (isolated) or as part of various underlying syndromes. symptoms vary among affected people and may include moderate to severe developmental delay, seizures, poor muscle tone and control, feeding or swallowing difficulties, and small head size (microcephaly). in most cases it is not inherited, but various inheritance patterns have been reported. treatment is symptomatic and supportive. last updated: 2/20/2014

MalaCards based summary: Pachygyria, also known as large gyri of cerebrum, is related to pachygyria with mental retardation and seizures and macrogyria, pseudobulbar palsy and mental retardation. An important gene associated with Pachygyria is TUBA1A (Tubulin Alpha 1a), and among its related pathways are Reelin signaling pathway and PLK1 signaling events. Affiliated tissues include brain, cortex and breast, and related mouse phenotype nervous system.

Wikipedia:68 Pachygyria (from the Greek \"pachy\" meaning \"thick\" or \"fat\" gyri) is a congenital malformation of... more...

Related Diseases for Pachygyria

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

(show top 50)    (show all 93)
idRelated DiseaseScoreTop Affiliating Genes
1pachygyria with mental retardation and seizures29.8CDK5, DCX, KATNB1, KIF2A, LAMC3, PAFAH1B1
2macrogyria, pseudobulbar palsy and mental retardation12.4
3pachygyria, frontotemporal12.4
4central bilateral macrogyria12.3
5agyria pachygyria polymicrogyria12.2
6agyria-pachygyria type 112.2
7pachygyria-intellectual disability-epilepsy syndrome12.2
8occipital pachygyria and polymicrogyria12.2
9baraitser-winter syndrome 111.6
10partial lissencephaly11.3
11winter harding hyde syndrome11.3
12microcephaly, cortical malformations, and mental retardation11.3
13lissencephaly 110.5
14cortical malformations, occipital10.4
15lissencephaly 6, with microcephaly10.4
16cortical dysplasia, complex, with other brain malformations 310.2
17lissencephaly 7 with cerebellar hypoplasia10.2
18lissencephaly 310.2
19miller-dieker lissencephaly syndrome10.2
20cortical dysplasia, complex, with other brain malformations 410.2
21microcephaly 2, primary, autosomal recessive, with or without cortical malformations10.2
22lissencephaly10.2
23isolated 17-linked lissencephaly10.2
24neuronal migration disorders10.2
25prostate cancer10.2
26breast cancer10.2
27leukemia10.2
28prostatitis10.2
29adenocarcinoma10.2
30vasculitis10.2
31endotheliitis10.2
32cryoglobulinemic vasculitis10.2
33dfna2 nonsyndromic hearing loss10.2DCX, PAFAH1B1
34isolated aniridia10.2DCX, PAFAH1B1
35hyperphosphatemia10.2DCX, PAFAH1B1
36tn polyagglutination syndrome, somatic10.1DCX, PAFAH1B1
37myocardial infarction10.1
38hepatocellular carcinoma10.1
39myelodysplastic syndrome10.1
40gitelman syndrome10.1
41cardiac conduction defect10.1
42kuru10.1
43acute leukemia10.1
44atherosclerosis10.1
45hemangioma10.1
46neuromyelitis optica10.1
47thrombocytopenia10.1
48brugada syndrome10.1
49chorioamnionitis10.1
50congenital adrenal hyperplasia10.1

Graphical network of the top 20 diseases related to Pachygyria:



Diseases related to pachygyria

Symptoms for Pachygyria

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Drugs & Therapeutics for Pachygyria

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Pachygyria

Genetic Tests for Pachygyria

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Genetic tests related to Pachygyria:

id Genetic test Affiliating Genes
1 Pachygyria22

Anatomical Context for Pachygyria

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MalaCards organs/tissues related to Pachygyria:

33
Brain, Cortex, Breast, Lung, Kidney, B cells, T cells

Animal Models for Pachygyria or affiliated genes

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MGI Mouse Phenotypes related to Pachygyria:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00036317.5CDK5, DCX, KIF2A, LAMC3, PAFAH1B1, TUBA1A

Publications for Pachygyria

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Articles related to Pachygyria:

(show top 50)    (show all 87)
idTitleAuthorsYear
1
High expression of RUNX1 is associated with poorer outcomes in cytogenetically normal acute myeloid leukemia. (26910834)
2016
2
Is There Excess Oxidative Stress and Damage in Eyes of Patients with Retinitis Pigmentosa? (25820114)
2015
3
Encephalocraniocutaneous lipomatosis, a rare neurocutaneous disorder: report of additional three cases. (26231568)
2015
4
Failing stentless Bioprostheses in patients with carcinoid heart valve disease. (25880286)
2015
5
Elevated soluble IL-2 receptor levels correlate with tumor bulk of follicular lymphomas with intestinal involvement. (24362271)
2014
6
Perirenal lymphangiomatosis. (25237663)
2014
7
Acute onset esotropia after heroin withdrawal. (25242008)
2014
8
Abnormal hypermethylation and clinicopathological significance of Axin gene in lung cancer. (23192643)
2013
9
Histologic changes in type A chronic atrophic gastritis indicating increased risk of neuroendocrine tumor development: the predictive role of dysplastic and severely hyperplastic enterochromaffin-like cell lesions. (23642738)
2013
10
Spinal cord injury: How can we improve the classification and quantification of its severity and prognosis? (23895105)
2013
11
Familial KANK1 deletion that does not follow expected imprinting pattern. (23454270)
2013
12
AC133 expression associated with poor prognosis in stage II colorectal cancer. (23322518)
2013
13
Letter: Skin cancer treatment fee comparisons inaccurate. (23205547)
2012
14
Genetic association and gene-gene interaction analyses in African American dialysis patients with nondiabetic nephropathy. (22119407)
2012
15
Troglitazone induced apoptosis of human pterygium fibroblasts through a mitochondrial-dependent pathway. (22553629)
2011
16
Low CD40L levels and relative lymphopenia in narcoleptic patients. (21669245)
2011
17
Molecular characterization of a novel 27.6-kb deletion causing I+(+) thalassemia in a Chinese family. (20645100)
2011
18
Pattern of fungal isolates in cases of corneal ulcer in the western periphery of Nepal. (21876583)
2011
19
Pancreatic-type hyperamylasemia and hyperlipasemia secondary to ruptured ovarian cyst: a case report and review of the literature. (18993019)
2010
20
Subinhibitory concentrations of moxifloxacin decrease adhesion and biofilm formation of Stenotrophomonas maltophilia from cystic fibrosis. (19762476)
2010
21
Proteinase-activated receptor-2 in the pathogenesis of gastroesophageal reflux disease. (20588261)
2010
22
Cerebral venous sinus thrombosis as presenting feature of ulcerative colitis. (19902870)
2009
23
Differential effects of protein quality on postprandial lipemia in response to a fat-rich meal in type 2 diabetes: comparison of whey, casein, gluten, and cod protein. (19458012)
2009
24
Smurf2 induces ubiquitin-dependent degradation of Smurf1 to prevent migration of breast cancer cells. (18927080)
2008
25
Prediction of refractive error in combined vitrectomy and cataract surgery with one-piece acrylic intraocular lens. (19096237)
2008
26
Differentiation of PC12 cells results in enhanced VIP expression and prolonged rhythmic expression of clock genes. (18810660)
2008
27
Immunogenicity of a triple diphtheria-tetanus-whole cell pertussis vaccine in Iranian preschool children. (17652850)
2007
28
The role of angiotensin AT1 receptor-associated protein in renin-angiotensin system regulation and function. (17442223)
2007
29
Effect of age on the association of non-high-density-lipoprotein cholesterol and apolipoprotein B with cardiovascular mortality in a Mediterranean population with type 2 diabetes: the Casale Monferrato study. (16525840)
2006
30
Molecular diagnostic and targeted therapy--"Barking dogs are going to bite": presentations from the 42nd Annual Meeting of the American Society of Clinical Oncology, Atlanta 2006]. (17001557)
2006
31
Role of hemoclips in a patient with cecal angiodysplasia at high risk of recurrent bleeding from antithrombotic therapy to maintain coronary stent patency: a case report. (16111979)
2005
32
Mechanisms of platelet-activating factor (PAF)-mediated responses in the lung. (16415501)
2005
33
Measurement of dendritic mRNA transport using ribosomal markers. (15707962)
2005
34
Analysis of 5-year survival among breast cancer patients with malignant pleural effusion receiving intrapleural OK-432 followed by adoptive transfer with cultured effusion lymphocytes]. (14619463)
2003
35
Induction of endogenous genes by peroxisome proliferator activated receptor alpha ligands in a human kidney cell line and in vivo. (12798359)
2003
36
Molecular basis of the synergistic production of IL-1 receptor antagonist by human neutrophils stimulated with IL-4 and IL-10. (12356680)
2002
37
Candidate genes for atopic asthma: current results from genome screens. (12083957)
2001
38
Improved cardiovascular risk factors and cardiac performance after 12 months of growth hormone (GH) replacement in young adult patients with GH deficiency. (11344175)
2001
39
Images in clinical medicine. An aspirin tablet and a gastric ulcer. (10995866)
2000
40
The serine/threonine kinase HIPK2 interacts with TRADD, but not with CD95 or TNF-R1 in 293T cells. (11032752)
2000
41
7-Ketocholesterol. (10224662)
1999
42
The RAG1 homeodomain recruits HMG1 and HMG2 to facilitate recombination signal sequence binding and to enhance the intrinsic DNA-bending activity of RAG1-RAG2. (10490593)
1999
43
The effect of transdermal oestradiol on bleeding pattern, hormonal profiles and sex steroid receptor distribution in the endometrium of Norplant users. (8982753)
1996
44
The mechanisms of myeloma cell growth]. (7699885)
1995
45
Increase of activated T-cells in BAL fluid of Japanese patients with bronchiolitis obliterans organizing pneumonia and chronic eosinophilic pneumonia. (7606945)
1995
46
Diagnosis and treatment of soft tissue sarcomas in adults. (7803538)
1994
47
Comparison of muscle activation patterns in adductor and abductor spasmodic dysphonia. (8122835)
1994
48
Bacterial vaginosis as a risk factor for post-cesarean endometritis. (2296423)
1990
49
Arteriomesenteric duodenal occlusion associated with strongyloidiasis. (2918578)
1989
50
Mitochondrial function in Kearns-Sayre syndrome. (3368088)
1988

Variations for Pachygyria

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Expression for genes affiliated with Pachygyria

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Search GEO for disease gene expression data for Pachygyria.

Pathways for genes affiliated with Pachygyria

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Pathways related to Pachygyria according to GeneCards Suite gene sharing:

(show all 13)
idSuper pathwaysScoreTop Affiliating Genes
19.8CDK5, PAFAH1B1
2
Show member pathways
9.6KIF2A, TUBG1
39.5CDK5, DCX, PAFAH1B1
4
Show member pathways
8.8TUBA1A, TUBA1B, TUBB2B
5
Show member pathways
8.8TUBA1A, TUBA1B, TUBB2B
6
Show member pathways
8.8TUBA1A, TUBA1B, TUBB2B
7
Show member pathways
8.8TUBA1A, TUBA1B, TUBB2B
88.8TUBA1A, TUBA1B, TUBB2B
98.8TUBA1A, TUBA1B, TUBB2B
10
Show member pathways
8.8TUBA1A, TUBA1B, TUBB2B
11
Show member pathways
8.8TUBA1A, TUBA1B, TUBB2B
12
Show member pathways
8.5CDK5, TUBA1A, TUBA1B, TUBB2B
13
Show member pathways
8.1CDK5, TUBA1A, TUBA1B, TUBB2B, TUBG1

GO Terms for genes affiliated with Pachygyria

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Cellular components related to Pachygyria according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1spindle microtubuleGO:00058769.8KIF2A, TUBG1
2spindle poleGO:00009229.3KATNB1, WDR62
3axonGO:00304249.3KATNB1, PAFAH1B1

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1cytoskeleton-dependent intracellular transportGO:003070510.3TUBA1A, TUBA1B
2peptidyl-serine phosphorylationGO:00181059.7CDK5, DCX
3mitotic cell cycleGO:00002789.7PAFAH1B1, TUBA1A, TUBG1
4microtubule cytoskeleton organizationGO:00002269.7PAFAH1B1, TUBA1B, TUBG1
5de novo posttranslational protein foldingGO:00510849.6TUBA1B, TUBB2B
6cell divisionGO:00513019.4CDK5, KIF2A, TUBA1A
7cellular protein metabolic processGO:00442678.8TUBA1A, TUBA1B, TUBB2B
8microtubule-based processGO:00070178.6PAFAH1B1, TUBA1A, TUBA1B, TUBB2B, TUBG1

Sources for Pachygyria

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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