MCID: PCH002
MIFTS: 37

Pachygyria malady

Genetic diseases, Rare diseases categories

Aliases & Classifications for Pachygyria

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Aliases & Descriptions for Pachygyria:

Name: Pachygyria 45 22 65
Macrogyria 45 24
 
Large Gyri of Cerebrum 45
Broad Gyri of Cerebrum 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 macrogyria, is related to pachygyria with mental retardation and seizures and lissencephaly. An important gene associated with Pachygyria is PAFAH1B1 (Platelet-Activating Factor Acetylhydrolase 1b, Regulatory Subunit 1 (45kDa)), and among its related pathways are Reelin signaling pathway and Neuroscience. Affiliated tissues include brain and cortex, and related mouse phenotypes are behavior/neurological and 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 162)
idRelated DiseaseScoreTop Affiliating Genes
1pachygyria with mental retardation and seizures27.9CDK5, DCX, KATNB1, KIF2A, LAMC3, PAFAH1B1
2lissencephaly10.5
3pachygyria, frontotemporal10.4
4lissencephaly 110.3
5polymicrogyria10.3
6macrogyria, pseudobulbar palsy and mental retardation10.3
7microcephaly10.2
8agyria pachygyria polymicrogyria10.2
9agyria-pachygyria type 110.2
10central bilateral macrogyria10.2
11baraitser-winter syndrome 110.2
12lissencephaly 6, with microcephaly10.2
13neuronitis10.2
14cerebellar hypoplasia10.2
15neuronal migration disorders10.2
16pachygyria - intellectual disability - epilepsy10.2
17occipital pachygyria and polymicrogyria10.2
18schwannomatosis-210.1DCX, PAFAH1B1
19optic nerve hypoplasia10.1DCX, PAFAH1B1
20thanatophoric dysplasia, type i10.1
21cortical dysplasia, complex, with other brain malformations 310.1
22cortical malformations, occipital10.1
23lissencephaly 310.1
24miller-dieker lissencephaly syndrome10.1
25microcephaly 2, primary, autosomal recessive, with or without cortical malformations10.1
26arachnoiditis10.1
27arachnoid cysts10.1
28subcortical band heterotopia10.1
29hypotonia10.1
30tn polyagglutination syndrome, somatic10.1DCX, PAFAH1B1
31desmosterolosis10.0
32neu-laxova syndrome110.0
33megalencephaly-capillary malformation-polymicrogyria syndrome, somatic10.0
34thanatophoric dysplasia, type ii10.0
35nijmegen breakage syndrome10.0
36peroxisome biogenesis disorder 5a10.0
37ritscher-schinzel syndrome10.0
38joubert syndrome 110.0
39gracile bone dysplasia10.0
40jacobsen syndrome10.0
41microcephaly, amish type10.0
42tetrasomy 18p10.0
43vici syndrome10.0
44marshall-smith syndrome10.0
45coffin-lowry syndrome10.0
46mental retardation and microcephaly with pontine and cerebellar hypoplasia10.0
47wolcott-rallison syndrome10.0
48holoprosencephaly10.0
49leber congenital amaurosis10.0
50walker-warburg syndrome10.0

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
2 Macrogyria24

Anatomical Context for Pachygyria

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MalaCards organs/tissues related to Pachygyria:

33
Brain, Cortex

Animal Models for Pachygyria or affiliated genes

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MGI Mouse Phenotypes related to Pachygyria:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053867.0CDK5, DCX, KIF2A, PAFAH1B1, RELN, TUBA1A
2MP:00036316.9CDK5, DCX, KIF2A, LAMC3, PAFAH1B1, RELN

Publications for Pachygyria

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Articles related to Pachygyria:

(show top 50)    (show all 87)
idTitleAuthorsYear
1
Recurrent KIF5C mutation leading to frontal pachygyria without microcephaly. (26384676)
2015
2
Pachygyria, seizures, hypotonia, and growth retardation in a patient with an atypical 1.33Mb inherited microduplication at 22q11.23. (26099517)
2015
3
Demonstration of different histological layers of the pachygyria/agyria cortex using diffusion tensor MR imaging. (23262553)
2013
4
Epileptogenic pachygyria demonstrating on FDG PET. (22157055)
2012
5
Hot water epilepsy with pachygyria. (21932090)
2012
6
Evaluation of white matter changes in agyria-pachygyria complex using diffusion tensor imaging. (20929906)
2011
7
Mania and pachygyria. (21948916)
2011
8
Novel VLDLR microdeletion identified in two Turkish siblings with pachygyria and pontocerebellar atrophy. (20082205)
2010
9
A new autosomal recessive disorder of bilateral frontotemporal pachygyria without microcephaly: report of a case and review of literature. (17272902)
2007
10
A rare case of epilepsy in a 16-year-old girl with fallot tetralogy attributed to CNS heterotopia and pachygyria. (17431068)
2007
11
Apparently novel genetic syndrome of pachygyria, mental retardation, seizure, and arachnoid cysts. (17343267)
2007
12
High myopia and congenital myopathy with partial pachygyria in cutis laxa syndrome. (16496270)
2006
13
Sedaghatian spondylometaphyseal dysplasia with pachygyria and absence of the corpus callosum. (16892303)
2006
14
Extreme microcephaly with agyria-pachygyria, partial agenesis of the corpus callosum, and pontocerebellar dysplasia. (15794192)
2005
15
Pachygyria in a girl with microcephalic osteodysplastic primordial short stature type II. (15737708)
2005
16
MRI supported diagnosis and counselling in a family with a probably autosomal recessive form of pachygyria. (16240462)
2005
17
Pachygyria and cerebellar hypoplasia in a patient with a 2q22-q23 deletion that includes the ZFHX1B gene. (15103730)
2004
18
Autosomal recessive frontotemporal pachygyria. (14708094)
2004
19
Chromosome 22q11 deletion and pachygyria characterized by array-based comparative genomic hybridization. (15523606)
2004
20
Agyria-pachygyria complex: MR findings and correlation with clinical features. (14738944)
2004
21
Pachygyria and cerebellar hypoplasia in Goldberg-Shprintzen syndrome. (12687674)
2003
22
Bilateral posterior agyria-pachygyria and epilepsy. (12581809)
2003
23
Agyria-pachygyria: clinical, neuroimaging, and neurophysiologic correlations. (12393126)
2002
24
Localization-related epilepsy mimicking epilepsy with myoclonic absence in a patient with pachygyria. (11896877)
2002
25
What's your diagnosis? Heterotopic gray matter (HGM) in the left centrum semiovale with associated pachygyria presenting with a late-onset seizure. (17264552)
2001
26
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
27
Diffuse pachygyria with cerebellar hypoplasia: a milder form of microlissencephaly or a new genetic syndrome? (10514106)
1999
28
Pachygyria in Weaver syndrome. (10494098)
1999
29
Familial neuronal migration disorder: subcortical laminar heterotopia in a mother and pachygyria in the son. (9489790)
1998
30
Pachygyria associated with childhood-onset epileptic spasms. (9733294)
1998
31
Agyria-pachygyria and agenesis of the corpus callosum: autosomal recessive inheritance with neonatal death. (9596009)
1998
32
Recurrent seizures due to pachygyria. (10216703)
1998
33
A new autosomal recessive syndrome of pachygyria. (9147882)
1996
34
Non-ketotic hyperglycinaemia presenting as pachygyria. (8750602)
1995
35
Posterior agyria-pachygyria with polymicrogyria: evidence for an inherited neuronal migration disorder. (7824106)
1995
36
X-linked pachygyria and agenesis of the corpus callosum: evidence for an X chromosome lissencephaly locus. (8053659)
1994
37
An additional case of pachygyria, joint contractures and facial abnormalities. (8305968)
1993
38
Hemiplegic dystonia associated with regional cortical dysplasia (pachygyria). (8474506)
1993
39
New XLMR syndrome with characteristic face, hypogenitalism, congenital hypotonia and pachygyria. (1605225)
1992
40
The MR evaluation of pachygyria and associated syndromes. (1999213)
1991
41
Infantile spasm induced by hemispheric pachygyria ultrasound, MRIand Tc-99m HMPAO SPECT. (1891268)
1991
42
A case with athetosis, mental retardation, deafness, and pachygyria. (1785663)
1991
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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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 15)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.3CDK5, PAFAH1B1, RELN
29.1CDK5, DCX, PAFAH1B1, TUBA1B
39.0CDK5, KIF2A, RELN
49.0CDK5, DCX, PAFAH1B1, RELN
5
Show member pathways
8.8TUBA1A, TUBA1B, TUBB2B
6
Show member pathways
8.8TUBA1A, TUBA1B, TUBB2B
78.8TUBA1A, TUBA1B, TUBB2B
8
Show member pathways
8.8TUBA1A, 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
8.8TUBA1A, TUBA1B, TUBB2B
138.8DCX, PAFAH1B1, TUBA1A, TUBA1B, TUBG1
14
Show member pathways
8.5CDK5, TUBA1A, TUBA1B, TUBB2B
15
Show member pathways
8.2CDK5, 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
1microtubule associated complexGO:000587510.5DCX, PAFAH1B1
2spindle microtubuleGO:000587610.1KIF2A, TUBG1
3cell leading edgeGO:00312529.8PAFAH1B1, TUBG1
4cytoplasmic microtubuleGO:00058819.7TUBA1A, TUBA1B, TUBG1
5growth coneGO:00304269.6CDK5, KATNB1, PAFAH1B1
6axonGO:00304249.5CDK5, KATNB1, PAFAH1B1
7spindle poleGO:00009229.5KATNB1, KIF2A, WDR62
8centrosomeGO:00058139.0KATNB1, KIF2A, PAFAH1B1, TUBG1
9protein complexGO:00432348.5TUBA1A, TUBA1B, TUBB2B, TUBG1
10microtubuleGO:00058747.4DCX, KATNB1, TUBA1A, TUBA1B, TUBB2B, TUBG1

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

(show all 22)
idNameGO IDScoreTop Affiliating Genes
1axon extensionGO:004867510.4CDK5, DCX
2cytoskeleton-dependent intracellular transportGO:003070510.3TUBA1A, TUBA1B
3positive regulation of dendritic spine morphogenesisGO:006100310.1PAFAH1B1, RELN
4cell morphogenesis involved in differentiationGO:000090410.1LAMC3, RELN
5protein localization to synapseGO:003541810.1CDK5, RELN
6dendrite morphogenesisGO:004881310.0CDK5, DCX
7G2/M transition of mitotic cell cycleGO:000008610.0PAFAH1B1, TUBA1A, TUBG1
8mitotic spindle organizationGO:00070529.9KIF2A, WDR62
9associative learningGO:00083069.9CDK5, RELN
10layer formation in cerebral cortexGO:00218199.8CDK5, PAFAH1B1, RELN
11microtubule cytoskeleton organizationGO:00002269.8PAFAH1B1, TUBA1B, TUBG1
12hippocampus developmentGO:00217669.6CDK5, PAFAH1B1, RELN
13de novo posttranslational protein foldingGO:00510849.3TUBA1A, TUBA1B, TUBB2B
14cell migrationGO:00164779.3CDK5, PAFAH1B1, RELN
15brain developmentGO:00074209.2DCX, PAFAH1B1, RELN
16mitotic cell cycleGO:00002789.1KIF2A, PAFAH1B1, TUBA1A, TUBG1
17protein foldingGO:00064579.1TUBA1A, TUBA1B, TUBB2B
18protein polymerizationGO:00512589.0TUBA1A, TUBA1B, TUBB2B, TUBG1
19cerebral cortex developmentGO:00219878.9CDK5, PAFAH1B1, RELN, WDR62
20microtubule-based processGO:00070178.8PAFAH1B1, TUBA1A, TUBA1B, TUBB2B, TUBG1
21neuron migrationGO:00017648.5CDK5, DCX, PAFAH1B1, RELN, TUBB2B
22cell divisionGO:00513018.5CDK5, KATNB1, KIF2A, TUBA1A, TUBA1B

Molecular functions related to Pachygyria according to GeneCards Suite gene sharing:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1dynein bindingGO:004550210.3KATNB1, PAFAH1B1
2structural molecule activityGO:00051989.8LAMC3, TUBA1A, TUBA1B
3microtubule bindingGO:00080179.5DCX, KATNB1, KIF2A, PAFAH1B1
4GTPase activityGO:00039249.0TUBA1A, TUBA1B, TUBB2B, TUBG1
5GTP bindingGO:00055258.9TUBA1A, TUBA1B, TUBB2B, TUBG1
6structural constituent of cytoskeletonGO:00052008.4TUBA1A, TUBA1B, TUBB2B, TUBG1
7protein bindingGO:00055155.2CDK5, DCX, KATNB1, KIF2A, LAMC3, PAFAH1B1

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