MCID: PCH002
MIFTS: 42

Pachygyria malady

Genetic diseases, Rare diseases categories
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Summaries for Pachygyria

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43NIH Rare Diseases, 65Wikipedia, 33MalaCards
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NIH Rare Diseases:43 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 cerebellar hypoplasia. An important gene associated with Pachygyria is TUBB2B (tubulin, beta 2B class IIb), and among its related pathways are Lissencephaly gene (LIS1) in neuronal migration and development and Regulation of PLK1 Activity at G2/M Transition. The compounds vinblastine and vinblastine sulfate have been mentioned in the context of this disorder. Affiliated tissues include brain and cortex, and related mouse phenotypes are behavior/neurological and nervous system.

Wikipedia:65 Pachygyria (from the Greek \"pachy\" meaning \"thick\" or \"fat\" gyri) is a congenital malformation of... more...

Aliases & Classifications for Pachygyria

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43NIH Rare Diseases, 20GeneTests, 62UMLS, 22GTR
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Classifications:

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Global: Genetic diseases, Rare diseases


Aliases & Descriptions:

pachygyria 43 20 62
macrogyria 43 22
large gyri of cerebrum 43
broad gyri of cerebrum 43


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 113)
idRelated DiseaseScoreTop Affiliating Genes
1lissencephaly30.6PAFAH1B1, DCX, TUBB2B, TUBA1A
2cerebellar hypoplasia30.3DCX, PAFAH1B1
3lissencephaly 130.1PAFAH1B1, DCX
4subcortical laminar heterotopia30.0PAFAH1B1
5polymicrogyria10.3
6pachygyria, frontotemporal10.2
7pachygyria - intellectual disability - epilepsy10.2
8neuronitis10.2
9agyria pachygyria polymicrogyria10.2
10agyria-pachygyria type 110.2
11pachygyria with mental retardation and seizures10.2
12mental retardation10.2
13neuronal migration disorders10.2
14macrogyria, pseudobulbar palsy and mental retardation10.1
15microcephaly10.1
16arachnoiditis10.1
17arachnoid cysts10.1
18miller-dieker syndrome10.1
19subcortical band heterotopia10.1
20cortical malformations, occipital10.1
21thanatophoric dysplasia type 110.1
22central bilateral macrogyria10.1
23lissencephaly x-linked10.0DCX, PAFAH1B1
24periventricular nodular heterotopia10.0PAFAH1B1, DCX
25intellectual disability10.0PAFAH1B1, DCX
26focal epilepsy10.0PAFAH1B1, DCX
27developmental disabilities10.0PAFAH1B1, DCX
28duane retraction syndrome9.9
29cutis laxa9.9
30weaver syndrome9.9
31tuberous sclerosis9.9
32cerebritis9.9
33lennox-gastaut syndrome9.9
34craniopharyngioma9.9
35dystonia9.9
36hydrocephalus9.9
37myopathy9.9
38myopia9.9
39retinitis9.9
40athetosis9.9
41baraitser-winter syndrome9.9
42congenital cytomegalovirus9.9
43neu laxova syndrome9.9
44partial lissencephaly9.9
45spondylometaphyseal dysplasia sedaghatian type9.9
46winter harding hyde syndrome9.9
47microlissencephaly9.9
48periventricular heterotopia9.9
49cytomegalovirus infection9.9
50hypotonia9.9

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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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Pachygyria

Search NIH Clinical Center for Pachygyria

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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33MalaCards
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MalaCards organs/tissues related to Pachygyria:

33
Brain, Cortex

Animal Models for Pachygyria or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Pachygyria:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053868.5PAFAH1B1, DCX, TUBB2B, TUBA1A
2MP:00036317.3PAFAH1B1, LAMC3, DCX, TUBB2B, TUBA1A

Publications for Pachygyria

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52PubMed
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Articles related to Pachygyria:

(show top 50)    (show all 84)
idTitleAuthorsYear
1
Demonstration of different histological layers of the pachygyria/agyria cortex using diffusion tensor MR imaging. (23262553)
2013
2
Epileptogenic pachygyria demonstrating on FDG PET. (22157055)
2012
3
Hot water epilepsy with pachygyria. (21932090)
2012
4
Evaluation of white matter changes in agyria-pachygyria complex using diffusion tensor imaging. (20929906)
2011
5
Mania and pachygyria. (21948916)
2011
6
Novel VLDLR microdeletion identified in two Turkish siblings with pachygyria and pontocerebellar atrophy. (20082205)
2010
7
Duane retraction syndrome, nystagmus, retinal pigment epitheliopathy and epiretinal membrane with micro- and pachygyria, developmental delay, hearing loss and craniopharyngioma. (19172504)
2009
8
A new autosomal recessive disorder of bilateral frontotemporal pachygyria without microcephaly: report of a case and review of literature. (17272902)
2007
9
A rare case of epilepsy in a 16-year-old girl with fallot tetralogy attributed to CNS heterotopia and pachygyria. (17431068)
2007
10
Apparently novel genetic syndrome of pachygyria, mental retardation, seizure, and arachnoid cysts. (17343267)
2007
11
High myopia and congenital myopathy with partial pachygyria in cutis laxa syndrome. (16496270)
2006
12
Sedaghatian spondylometaphyseal dysplasia with pachygyria and absence of the corpus callosum. (16892303)
2006
13
Extreme microcephaly with agyria-pachygyria, partial agenesis of the corpus callosum, and pontocerebellar dysplasia. (15794192)
2005
14
Pachygyria in a girl with microcephalic osteodysplastic primordial short stature type II. (15737708)
2005
15
MRI supported diagnosis and counselling in a family with a probably autosomal recessive form of pachygyria. (16240462)
2005
16
Pachygyria and cerebellar hypoplasia in a patient with a 2q22-q23 deletion that includes the ZFHX1B gene. (15103730)
2004
17
Autosomal recessive frontotemporal pachygyria. (14708094)
2004
18
Chromosome 22q11 deletion and pachygyria characterized by array-based comparative genomic hybridization. (15523606)
2004
19
Agyria-pachygyria complex: MR findings and correlation with clinical features. (14738944)
2004
20
Pachygyria and cerebellar hypoplasia in Goldberg-Shprintzen syndrome. (12687674)
2003
21
Bilateral posterior agyria-pachygyria and epilepsy. (12581809)
2003
22
Agyria-pachygyria: clinical, neuroimaging, and neurophysiologic correlations. (12393126)
2002
23
Localization-related epilepsy mimicking epilepsy with myoclonic absence in a patient with pachygyria. (11896877)
2002
24
What's your diagnosis? Heterotopic gray matter (HGM) in the left centrum semiovale with associated pachygyria presenting with a late-onset seizure. (17264552)
2001
25
New MR/MCA syndrome with distinct facial appearance and general habitus, broad and webbed neck, hypoplastic inverted nipples, epilepsy, and pachygyria of the frontal lobes. (10928857)
2000
26
Diffuse pachygyria with cerebellar hypoplasia: a milder form of microlissencephaly or a new genetic syndrome? (10514106)
1999
27
Pachygyria in Weaver syndrome. (10494098)
1999
28
Familial neuronal migration disorder: subcortical laminar heterotopia in a mother and pachygyria in the son. (9489790)
1998
29
Pachygyria associated with childhood-onset epileptic spasms. (9733294)
1998
30
Agyria-pachygyria and agenesis of the corpus callosum: autosomal recessive inheritance with neonatal death. (9596009)
1998
31
Recurrent seizures due to pachygyria. (10216703)
1998
32
A new autosomal recessive syndrome of pachygyria. (9147882)
1996
33
Non-ketotic hyperglycinaemia presenting as pachygyria. (8750602)
1995
34
Posterior agyria-pachygyria with polymicrogyria: evidence for an inherited neuronal migration disorder. (7824106)
1995
35
X-linked pachygyria and agenesis of the corpus callosum: evidence for an X chromosome lissencephaly locus. (8053659)
1994
36
An additional case of pachygyria, joint contractures and facial abnormalities. (8305968)
1993
37
Hemiplegic dystonia associated with regional cortical dysplasia (pachygyria). (8474506)
1993
38
New XLMR syndrome with characteristic face, hypogenitalism, congenital hypotonia and pachygyria. (1605225)
1992
39
The MR evaluation of pachygyria and associated syndromes. (1999213)
1991
40
Infantile spasm induced by hemispheric pachygyria ultrasound, MRIand Tc-99m HMPAO SPECT. (1891268)
1991
41
A case with athetosis, mental retardation, deafness, and pachygyria. (1785663)
1991
42
Focal pachygyria with unusual vascular anomaly. (2215909)
1990
43
Unknown syndrome: pachygyria, joint contractures, and facial abnormalities. (2614803)
1989
44
Lissencephaly and pachygyria. (2736411)
1989
45
Agyria--pachygyria and Miller-Dieker syndrome: clinical, genetic and chromosome studies. (3391613)
1988
46
Fine structure based on the Golgi method of the abnormal cortex and heterotopic nodules in pachygyria. (6486379)
1984
47
Pachygyria and congenital nephrosis disorder of migration and neuronal orientation. (6880614)
1983
48
Agyria-pachygyria (lissencephaly syndrome). (988918)
1976
49
Lissencephaly and Pachygyria: an architectonic and topographical analysis. (1121923)
1975
50
Pachygyria: relation of findings to modern embryologic concepts. (5692340)
1968

Variations for Pachygyria

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Expression for genes affiliated with Pachygyria

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Pachygyria

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Pathways for genes affiliated with Pachygyria

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50PathCards, 38NCBI BioSystems Database, 55Reactome, 53QIAGEN, 60Thomson Reuters, 30KEGG, 12EMD Millipore, 5Cell Signaling Technology
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Pathways related to Pachygyria according to GeneCards/GeneDecks:

(show all 17)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.4DCX, PAFAH1B1
2
Show member pathways
9.3PAFAH1B1, TUBA1A
3
Show member pathways
Cytoskeleton remodeling Reverse signaling by ephrin B60
9.0TUBA1A, TUBA1B, TUBB2B
49.0TUBB2B, TUBA1B, TUBA1A
5
Show member pathways
Neurophysiological process Receptor mediated axon growth repulsion60
Pathogenic Escherichia coli infection38
9.0TUBB2B, TUBA1B, TUBA1A
6
Show member pathways
9.0TUBB2B, TUBA1B, TUBA1A
7
Show member pathways
9.0TUBA1A, TUBA1B, TUBB2B
8
Show member pathways
9.0TUBB2B, TUBA1B, TUBA1A
99.0TUBA1A, TUBA1B, TUBB2B
10
Show member pathways
9.0TUBA1A, TUBA1B, TUBB2B
11
Show member pathways
9.0TUBA1A, TUBA1B, TUBB2B
129.0TUBB2B, TUBA1B, TUBA1A
139.0TUBA1A, TUBA1B, TUBB2B
14
Show member pathways
Proteolysis Role of Parkin in the Ubiquitin Proteasomal Pathway60
9.0TUBB2B, TUBA1B, TUBA1A
158.9PAFAH1B1, DCX, TUBA1B
16
Show member pathways
Cytoskeleton remodeling Neurofilaments60
8.4PAFAH1B1, TUBB2B, TUBA1B, TUBA1A
178.4PAFAH1B1, DCX, TUBA1B, TUBA1A

Compounds for genes affiliated with Pachygyria

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45Novoseek, 51PharmGKB, 11DrugBank, 61Tocris Bioscience, 3BitterDB, 29IUPHAR, 24HMDB
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Compounds related to Pachygyria according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1vinblastine45 51 1111.4TUBA1B, TUBA1A
2vinblastine sulfate619.2TUBB2B, TUBA1A, TUBA1B
3vinorelbine ditartrate619.1TUBA1A, TUBA1B, TUBB2B
4epothilone b45 61 1111.1TUBB2B, TUBA1B, TUBA1A
5colchicine45 61 3 29 1113.0TUBA1A, TUBA1B, TUBB2B
6docetaxel45 51 61 1111.9TUBB2B, TUBA1B, TUBA1A
7Guanosine triphosphate248.7TUBB2B, TUBA1B, TUBA1A

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:0058819.4TUBA1B, TUBA1A
2microtubule associated complexGO:0058759.1PAFAH1B1, DCX
3microtubuleGO:0058748.5DCX, TUBB2B, TUBA1B, TUBA1A

Biological processes related to Pachygyria according to GeneCards/GeneDecks:

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1cytoskeleton-dependent intracellular transportGO:0307059.5TUBA1A, TUBA1B
2G2/M transition of mitotic cell cycleGO:0000869.3PAFAH1B1, TUBA1A
3microtubule cytoskeleton organizationGO:0002269.3PAFAH1B1, TUBA1B
4protein polymerizationGO:0512589.2TUBB2B, TUBA1B, TUBA1A
5de novo posttranslational protein foldingGO:0510849.2TUBA1A, TUBA1B, TUBB2B
6neuron migrationGO:0017649.1PAFAH1B1, DCX, TUBB2B
7cell divisionGO:0513019.1TUBA1B, TUBA1A
8protein foldingGO:0064579.1TUBB2B, TUBA1B, TUBA1A
9cellular protein metabolic processGO:0442678.9TUBA1A, TUBA1B, TUBB2B
10microtubule-based processGO:0070178.6PAFAH1B1, TUBB2B, TUBA1B, TUBA1A

Molecular functions related to Pachygyria according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1microtubule bindingGO:0080179.4PAFAH1B1, DCX
2structural constituent of cytoskeletonGO:0052009.1TUBB2B, TUBA1B, TUBA1A
3GTPase activityGO:0039248.9TUBA1A, TUBA1B, TUBB2B
4GTP bindingGO:0055258.7TUBB2B, TUBA1B, TUBA1A
5structural molecule activityGO:0051988.6LAMC3, TUBA1B, TUBA1A

Products for genes affiliated with Pachygyria

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Sources for Pachygyria

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4CDC
13ExPASy
14FMA
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23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
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40NCIt
41NDF-RT
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45Novoseek
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53QIAGEN
59SNOMED-CT via Orphanet
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