MCID: PCH002
MIFTS: 30

Pachygyria malady

Summaries for Pachygyria

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42NIH Rare Diseases, 63Wikipedia, 32MalaCards
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NIH Rare Diseases:42 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: Pachygyria, also known as macrogyria, is related to lissencephaly and lissencephaly 1. An important gene associated with Pachygyria is WDR62 (WD repeat domain 62), and among its related pathways are Lissencephaly gene (LIS1) in neuronal migration and development and wtCFTR and deltaF508 traffic / Membrane expression (norm and CF). The compounds vinblastine and Epothilone D have been mentioned in the context of this disorder. Affiliated tissues include brain and cortex.

Wikipedia:63 Pachygyria (from the Greek \"pachy\" meaning \"thick\" or \"fat\" gyri) is a congenital malformation of... more...

Aliases & Classifications for Pachygyria

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42NIH Rare Diseases, 20GeneTests, 60UMLS, 22GTR
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Aliases & Descriptions:

pachygyria 42 20 60
macrogyria 42 22
large gyri of cerebrum 42
broad gyri of cerebrum 42


Related Diseases for Pachygyria

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17GeneCards, 18GeneDecks
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Diseases related to Pachygyria via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 103)
idRelated DiseaseScoreTop Affiliating Genes
1lissencephaly30.6PAFAH1B1, DCX, TUBB2B, TUBA1A
2lissencephaly 130.2PAFAH1B1, DCX
3microcephaly30.0WDR62, PAFAH1B1
4polymicrogyria10.3
5pachygyria, frontotemporal10.2
6pachygyria - intellectual deficit - epilepsy10.2
7neuronitis10.1
8agyria pachygyria polymicrogyria10.1
9agyria-pachygyria type 110.1
10pachygyria with mental retardation and seizures10.1
11pachygyria - epilepsy - intellectual deficit - dysmorphism10.1
12macrogyria, pseudobulbar palsy and mental retardation10.1
13arachnoiditis10.1
14epilepsy syndrome10.1
15cortical malformations, occipital10.1
16thanatophoric dysplasia type 110.0
17central bilateral macrogyria10.0
18lissencephaly x-linked10.0DCX, PAFAH1B1
19periventricular nodular heterotopia10.0PAFAH1B1, DCX
20developmental disabilities10.0PAFAH1B1, DCX
21cerebellar hypoplasia10.0PAFAH1B1, DCX
22focal epilepsy10.0PAFAH1B1, DCX
23cutis laxa9.9
24weaver syndrome9.9
25tuberous sclerosis9.9
26frontal lobe epilepsy9.9
27cerebritis9.9
28lennox-gastaut syndrome9.9
29tetralogy of fallot9.9
30duane retraction syndrome9.9
31craniopharyngioma9.9
32hydrocephalus9.9
33myopathy9.9
34myopia9.9
35retinitis9.9
36micro syndrome9.9
37fryns syndrome9.9
38partial lissencephaly9.9
39miller-dieker syndrome9.9
40winter harding hyde syndrome9.9
41neuronal migration disorders9.9
42x-linked ichthyosis9.9
43incontinentia pigmenti achromians9.9
44melas syndrome9.9
45aicardi syndrome9.9
46nijmegen breakage syndrome9.9
47pseudobulbar palsy9.9
48coffin-lowry syndrome9.9
49thanatophoric dysplasia type 29.9
50amish lethal microcephaly9.9

Graphical network of the top 20 diseases related to Pachygyria:



Diseases related to pachygyria

Clinical Features for Pachygyria

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Drugs & Therapeutics for Pachygyria

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Pachygyria

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Genetic Tests for Pachygyria

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20GeneTests, 22GTR
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Genetic tests related to Pachygyria:

id Genetic test Affiliating Genes
1 Pachygyria20
2 Macrogyria22

Anatomical Context for Pachygyria

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32MalaCards
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MalaCards organs/tissues related to Pachygyria:

32
Brain, Cortex

Animal Models for Pachygyria or affiliated genes

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Publications for Pachygyria

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Genetic Variations for Pachygyria

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Expression for genes affiliated with Pachygyria

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Pachygyria

Search GEO for disease gene expression data for Pachygyria.

Pathways for genes affiliated with Pachygyria

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37NCBI BioSystems Database, 12EMD Millipore, 53Reactome, 29KEGG, 51QIAGEN, 4Cell Signaling Technology
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Pathways related to Pachygyria according to GeneCards/GeneDecks:

(show all 27)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.2PAFAH1B1, DCX
2
wtCFTR and deltaF508 traffic / Membrane expression (norm and CF)
9.0TUBB2B, TUBA1A, TUBA1B
3
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9.0TUBA1B, TUBA1A, TUBB2B
4
Cell cycle Spindle assembly and chromosome separation
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9.0TUBB2B, TUBA1A, TUBA1B
5
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9.0TUBB2B, TUBA1A, TUBA1B
6
Cytoskeleton remodeling Reverse signaling by ephrin B
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9.0TUBA1B, TUBA1A, TUBB2B
79.0TUBA1B, TUBA1A, TUBB2B
8
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9.0TUBB2B, TUBA1A, TUBA1B
9
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9.0TUBA1B, TUBA1A, TUBB2B
10
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9.0TUBB2B, TUBA1A, TUBA1B
11
Development Slit-Robo signaling
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9.0TUBA1B, TUBA1A, TUBB2B
129.0TUBB2B, TUBA1A, TUBA1B
139.0TUBB2B, TUBA1A, TUBA1B
149.0TUBA1B, TUBA1A, TUBB2B
15
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9.0TUBB2B, TUBA1A, TUBA1B
16
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9.0TUBA1B, TUBA1A, TUBB2B
17
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9.0TUBB2B, TUBA1A, TUBA1B
18
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9.0TUBA1B, TUBA1A, TUBB2B
19
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9.0TUBB2B, TUBA1A, TUBA1B
20
Cell adhesion Gap junctions
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9.0TUBA1B, TUBA1A, TUBB2B
218.7PAFAH1B1, DCX, TUBA1B
22
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8.6DCX, TUBB2B, TUBA1A, TUBA1B
238.3TUBA1B, TUBA1A, DCX, PAFAH1B1
24
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8.2TUBA1B, TUBA1A, TUBB2B, PAFAH1B1
25
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8.2TUBA1B, TUBA1A, TUBB2B, PAFAH1B1
26
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8.2PAFAH1B1, TUBB2B, TUBA1A, TUBA1B
27
Hide members
8.2PAFAH1B1, TUBB2B, TUBA1A, TUBA1B

Compounds for genes affiliated with Pachygyria

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44Novoseek, 49PharmGKB, 11DrugBank, 59Tocris Bioscience, 2BitterDB, 28IUPHAR
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Compounds related to Pachygyria according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1vinblastine44 49 1111.5TUBA1A, TUBA1B
2Epothilone D119.4TUBA1B, TUBA1A
32-MERCAPTO-N-[1,2,3,10-TETRAMETHOXY-9-OXO-5,6,7,9-TETRAHYDRO-BENZO[A]HEPTALEN-7-YL]ACETAMIDE119.2TUBB2B, TUBA1A, TUBA1B
4vinorelbine ditartrate599.2TUBA1B, TUBA1A, TUBB2B
5vinblastine sulfate599.1TUBA1B, TUBA1A, TUBB2B
6epothilone b59 44 1111.1TUBA1B, TUBA1A, TUBB2B
7colchicine59 44 2 28 1113.0TUBB2B, TUBA1A, TUBA1B
8docetaxel44 49 59 1111.7TUBB2B, TUBA1A, TUBA1B

GO Terms for genes affiliated with Pachygyria

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16Gene Ontology
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Cellular components related to Pachygyria according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytoplasmic microtubuleGO:0058819.5TUBA1A, TUBA1B
2microtubule cytoskeletonGO:0156308.9TUBA1B, TUBA1A, TUBB2B
3microtubule associated complexGO:0058758.9PAFAH1B1, DCX
4microtubuleGO:0058748.6DCX, TUBB2B, TUBA1A, TUBA1B

Biological processes related to Pachygyria according to GeneCards/GeneDecks:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1cytoskeleton-dependent intracellular transportGO:0307059.7TUBA1A, TUBA1B
2protein polymerizationGO:0512589.2TUBA1B, TUBA1A, TUBB2B
3cerebral cortex developmentGO:0219879.2WDR62, PAFAH1B1
4de novo posttranslational protein foldingGO:0510849.2TUBB2B, TUBA1A, TUBA1B
5protein foldingGO:0064579.0TUBB2B, TUBA1A, TUBA1B
6cellular protein metabolic processGO:0442679.0TUBB2B, TUBA1A, TUBA1B
7microtubule cytoskeleton organizationGO:0002268.8PAFAH1B1, TUBA1B
8neuron migrationGO:0017648.7TUBB2B, DCX, PAFAH1B1
9microtubule-based processGO:0070178.4PAFAH1B1, TUBB2B, TUBA1A, TUBA1B

Molecular functions related to Pachygyria according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1structural constituent of cytoskeletonGO:0052009.0TUBB2B, TUBA1A, TUBA1B
2GTP bindingGO:0055259.0TUBB2B, TUBA1A, TUBA1B
3structural molecule activityGO:0051988.8LAMC3, TUBA1A, TUBA1B
4GTPase activityGO:0039248.7TUBA1B, TUBA1A, TUBB2B

Products for genes affiliated with Pachygyria

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Sources for Pachygyria

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet