MCID: PCH002
MIFTS: 39

Pachygyria malady

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Pachygyria

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Aliases & Descriptions for Pachygyria:

Name: Pachygyria 48 24 27 68
Macrogyria 48 27
 
Large Gyri of Cerebrum 48
Broad Gyri of Cerebrum 48

Classifications:



Summaries for Pachygyria

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NIH Rare Diseases:48 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, seizures, and arachnoid cysts and pachygyria, frontotemporal. An important gene associated with Pachygyria is PAFAH1B1 (Platelet Activating Factor Acetylhydrolase 1b Regulatory Subunit 1), and among its related pathways are Reelin signaling pathway and Reelin Pathway (Cajal-Retzius cells). Affiliated tissues include brain and cortex, and related mouse phenotypes are cellular and growth/size/body region.

Wikipedia:71 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 74)
idRelated DiseaseScoreTop Affiliating Genes
1pachygyria with mental retardation, seizures, and arachnoid cysts12.1
2pachygyria, frontotemporal11.9
3macrogyria, pseudobulbar palsy and mental retardation11.8
4central bilateral macrogyria11.8
5agyria pachygyria polymicrogyria11.7
6agyria-pachygyria type 111.7
7cortical malformations, occipital11.4
8baraitser-winter syndrome 111.3
9lissencephaly11.1
10neuronal migration disorders11.0
11lissencephaly 110.9
12lissencephaly 6, with microcephaly10.8
13winter harding hyde syndrome10.8
14microcephaly, cortical malformations, and mental retardation10.8
15cortical dysplasia, complex, with other brain malformations 310.7
16lissencephaly 7 with cerebellar hypoplasia10.7
17lissencephaly 310.7
18miller-dieker lissencephaly syndrome10.7
19cortical dysplasia, complex, with other brain malformations 410.7
20microcephaly 2, primary, autosomal recessive, with or without cortical malformations10.7
21spondylometaphyseal dysplasia, sedaghatian type10.7
22isolated 17-linked lissencephaly10.7
23okur-chung neurodevelopmental syndrome10.7
24lissencephaly 810.7
25deafness and hereditary hearing loss10.2DCX, PAFAH1B1
26autosomal recessive spastic paraplegia type 7010.2TUBA1A, TUBB2B
27noonan syndrome 1010.2DCX, PAFAH1B1
28kcne2-related familial atrial fibrillation10.2DCX, PAFAH1B1, RELN
29hereditary cerebral amyloid angiopathy10.1TUBA1A, TUBA1B
30right ventricular hypoplasia, isolated10.1DCX, PAFAH1B1
31lung agenesis10.1DCX, PAFAH1B1, RELN
32y chromosome infertility10.1TUBA1A, TUBB2B, TUBG1
33persistent vegetative state10.1DCX, PAFAH1B1, RELN, TUBA1A
34otopalatodigital syndrome, type ii10.1DCX, PAFAH1B1, RELN, TUBA1A
35mental retardation, x-linked, syndromic 1510.1DCX, PAFAH1B1
36mlc1-related megalencephalic leukoencephalopathy with subcortical cysts10.1KATNB1, TUBA1A, TUBB2B
37epilepsy10.0
38fibrous dysplasia10.0DCX, PAFAH1B1, TUBA1A, WDR62
39polymicrogyria10.0
40meier-gorlin syndrome 610.0DCX, KIF2A, PAFAH1B1, TUBG1
41aids - neurological complications9.9CDK5, DCX, PAFAH1B1, RELN, TUBA1A
42superficial spreading melanoma9.9DCX, KIF2A, PAFAH1B1, TUBG1
43microcephaly9.9
44cerebellar hypoplasia9.9
45neuronitis9.9
46angiodysplasia9.8DCX, PAFAH1B1, RELN, TUBA1A, TUBB2B, WDR62
47arachnoiditis9.8
48arachnoid cysts9.8
49subcortical band heterotopia9.8
50hypotonia9.8

Graphical network of the top 20 diseases related to Pachygyria:



Diseases related to pachygyria

Symptoms & Phenotypes for Pachygyria

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MGI Mouse Phenotypes related to Pachygyria according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053848.2KATNB1, KIF2A, PAFAH1B1, RELN, TMTC3, TUBA1A
2MP:00053788.1CSNK2A1, DCX, KATNB1, PAFAH1B1, RELN, TMTC3
3MP:00107687.5CDK5, CSNK2A1, DCX, KATNB1, KIF2A, PAFAH1B1
4MP:00036316.7CDK5, CSNK2A1, DCX, KATNB1, KIF2A, LAMC3

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 Pachygyria27 24
2 Macrogyria27

Anatomical Context for Pachygyria

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MalaCards organs/tissues related to Pachygyria:

36
Brain, Cortex

Publications for Pachygyria

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Articles related to Pachygyria:

(show top 50)    (show all 91)
idTitleAuthorsYear
1
Reverse Tigroid" Pattern in Pachygyria: A Novel Finding. (27195181)
2016
2
Familial pachygyria in both genders related to a DCX mutation. (26743950)
2016
3
De Novo TUBB2A Variant Presenting With Anterior Temporal Pachygyria. (27770045)
2016
4
Primary Microcephaly With Anterior Predominant Pachygyria Caused by Novel Compound Heterozygous Mutations in ASPM. (25765464)
2015
5
Recurrent KIF5C mutation leading to frontal pachygyria without microcephaly. (26384676)
2015
6
Pachygyria Presented as Mania. (26702182)
2015
7
Pachygyria, seizures, hypotonia, and growth retardation in a patient with an atypical 1.33Mb inherited microduplication at 22q11.23. (26099517)
2015
8
Demonstration of different histological layers of the pachygyria/agyria cortex using diffusion tensor MR imaging. (23262553)
2013
9
A collodion baby with facial dysmorphism, limb anomalies, pachygyria and genital hypoplasia: a mild form of Neu-laxova syndrome or a new entity? (24371398)
2013
10
Epileptogenic pachygyria demonstrating on FDG PET. (22157055)
2012
11
Hot water epilepsy with pachygyria. (21932090)
2012
12
Symmetric polymicrogyria and pachygyria associated with TUBB2B gene mutations. (22333901)
2012
13
Frontotemporal pachygyria-two new patients. (23022981)
2012
14
Mania and pachygyria. (21948916)
2011
15
Evaluation of white matter changes in agyria-pachygyria complex using diffusion tensor imaging. (20929906)
2011
16
A novel missense mutation in LIS1 in a child with subcortical band heterotopia and pachygyria inherited from his mildly affected mother with somatic mosaicism. (19808989)
2010
17
Novel VLDLR microdeletion identified in two Turkish siblings with pachygyria and pontocerebellar atrophy. (20082205)
2010
18
Infantile spasms associated with lissencephaly pachygyria in a female twin. (20508363)
2010
19
A case of Baraitser-Winter syndrome with unusual brain MRI findings: pachygyria, subcortical-band heterotopia, and periventricular heterotopia. (19477093)
2010
20
Familial Lennox-Gastaut syndrome in male siblings with a novel DCX mutation and anterior pachygyria. (20726879)
2010
21
The syndrome of pachygyria, mental retardation, and arachnoid cysts maps to 11p15. (19876906)
2009
22
Duane retraction syndrome, nystagmus, retinal pigment epitheliopathy and epiretinal membrane with micro- and pachygyria, developmental delay, hearing loss and craniopharyngioma. (19172504)
2009
23
A pachygyria-causing alpha-tubulin mutation results in inefficient cycling with CCT and a deficient interaction with TBCB. (18199681)
2008
24
A case of isolated pachygyria with unusual clinical onset in the neonatal period. (19216204)
2008
25
Pachygyria in a neonate with trisomy 21. (17356314)
2007
26
A new autosomal recessive disorder of bilateral frontotemporal pachygyria without microcephaly: report of a case and review of literature. (17272902)
2007
27
A rare case of epilepsy in a 16-year-old girl with fallot tetralogy attributed to CNS heterotopia and pachygyria. (17431068)
2007
28
A new lethal case of joint contractures, facial abnormalities, pachygyria plus early-onset encephalopathy with a suppression-burst EEG pattern. (17412623)
2007
29
Apparently novel genetic syndrome of pachygyria, mental retardation, seizure, and arachnoid cysts. (17343267)
2007
30
Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A). (17584854)
2007
31
High myopia and congenital myopathy with partial pachygyria in cutis laxa syndrome. (16496270)
2006
32
Sedaghatian spondylometaphyseal dysplasia with pachygyria and absence of the corpus callosum. (16892303)
2006
33
Pachygyria in a girl with microcephalic osteodysplastic primordial short stature type II. (15737708)
2005
34
Re: polymicrogyria versus pachygyria in 22q11 microdeletion. (16001437)
2005
35
Severe epilepsy and pachygyria associated with peculiar facial traits characterize Fryns-Aftimos syndrome. (15794188)
2005
36
MRI supported diagnosis and counselling in a family with a probably autosomal recessive form of pachygyria. (16240462)
2005
37
Extreme microcephaly with agyria-pachygyria, partial agenesis of the corpus callosum, and pontocerebellar dysplasia. (15794192)
2005
38
Autosomal recessive frontotemporal pachygyria. (14708094)
2004
39
Chromosome 22q11 deletion and pachygyria characterized by array-based comparative genomic hybridization. (15523606)
2004
40
Pachygyria and cerebellar hypoplasia in a patient with a 2q22-q23 deletion that includes the ZFHX1B gene. (15103730)
2004
41
Agyria-pachygyria complex: MR findings and correlation with clinical features. (14738944)
2004
42
Pachygyria and polymicrogyria in 22q11 deletion syndrome. (12548745)
2003
43
Pachygyria and cerebellar hypoplasia in Goldberg-Shprintzen syndrome. (12687674)
2003
44
Bilateral posterior agyria-pachygyria and epilepsy. (12581809)
2003
45
Localization-related epilepsy mimicking epilepsy with myoclonic absence in a patient with pachygyria. (11896877)
2002
46
Agyria-pachygyria: clinical, neuroimaging, and neurophysiologic correlations. (12393126)
2002
47
What's your diagnosis? Heterotopic gray matter (HGM) in the left centrum semiovale with associated pachygyria presenting with a late-onset seizure. (17264552)
2001
48
Asymmetric arthrogryposis multiplex congenita with focal pachygyria. (11587882)
2001
49
Congenital cytomegalovirus infection: a retrospective diagnosis in a child with pachygyria. (10913736)
2000
50
Clinical features of 21 patients with lissencephaly type I (agyria-pachygyria). (11105619)
2000

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 pathwaysScoreTop Affiliating Genes
19.6CDK5, PAFAH1B1, RELN
29.4CDK5, KIF2A, RELN
39.1CDK5, DCX, PAFAH1B1, TUBA1B
48.9DCX, PAFAH1B1, TUBA1A, TUBA1B, TUBG1
58.8CDK5, CSNK2A1, DCX, PAFAH1B1, RELN
68.6TUBA1A, TUBA1B, TUBB1, TUBB2B
7
Show member pathways
8.6TUBA1A, TUBA1B, TUBB1, TUBB2B
8
Show member pathways
8.6TUBA1A, TUBA1B, TUBB1, TUBB2B
98.6TUBA1A, TUBA1B, TUBB1, TUBB2B
10
Show member pathways
8.6TUBA1A, TUBA1B, TUBB1, TUBB2B
11
Show member pathways
8.6TUBA1A, TUBA1B, TUBB1, TUBB2B
12
Show member pathways
8.2CDK5, TUBA1A, TUBA1B, TUBB1, TUBB2B
13
Show member pathways
8.0CSNK2A1, TUBA1A, TUBA1B, TUBB1, TUBB2B
14
Show member pathways
8.0CSNK2A1, TUBA1A, TUBA1B, TUBB1, TUBB2B
15
Show member pathways
7.9CDK5, TUBA1A, TUBA1B, TUBB1, 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:000587510.7DCX, PAFAH1B1
2growth coneGO:003042610.2CDK5, KATNB1, PAFAH1B1
3cytoplasmic microtubuleGO:000588110.1TUBA1A, TUBA1B, TUBG1
4centrosomeGO:00058139.5KATNB1, KIF2A, PAFAH1B1, TUBG1, WDR62
5spindle poleGO:00009229.2KATNB1, KIF2A, WDR62
6microtubule organizing centerGO:00058159.2KATNB1, KIF2A, PAFAH1B1, TUBG1, WDR62
7microtubule cytoskeletonGO:00156308.6KATNB1, PAFAH1B1, TUBA1A, TUBA1B, TUBB1, TUBB2B
8microtubuleGO:00058747.6DCX, KATNB1, KIF2A, PAFAH1B1, TUBA1A, TUBA1B
9cytoskeletonGO:00058566.9CDK5, DCX, KATNB1, KIF2A, PAFAH1B1, TUBA1A
10cytoplasmGO:00057376.7CDK5, DCX, KATNB1, KIF2A, PAFAH1B1, RELN

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

(show all 19)
idNameGO IDScoreTop Affiliating Genes
1axon extensionGO:004867510.6CDK5, DCX
2cell morphogenesis involved in differentiationGO:000090410.6LAMC3, RELN
3associative learningGO:000830610.6CDK5, RELN
4cytoskeleton-dependent intracellular transportGO:003070510.4TUBA1A, TUBA1B
5ciliary basal body dockingGO:009771110.4PAFAH1B1, TUBA1A, TUBG1
6G2/M transition of mitotic cell cycleGO:000008610.4PAFAH1B1, TUBA1A, TUBG1
7mitotic spindle organizationGO:000705210.3KIF2A, WDR62
8positive regulation of dendritic spine morphogenesisGO:006100310.3PAFAH1B1, RELN
9cytoskeleton organizationGO:000701010.1TUBA1A, TUBA1B, TUBB2B
10microtubule cytoskeleton organizationGO:000022610.1PAFAH1B1, TUBA1B, TUBG1
11hippocampus developmentGO:002176610.1CDK5, DCX, PAFAH1B1, RELN
12layer formation in cerebral cortexGO:002181910.1CDK5, DCX, PAFAH1B1, RELN
13cerebral cortex developmentGO:002198710.0CDK5, PAFAH1B1, RELN, WDR62
14protein localization to synapseGO:00354189.9CDK5, RELN
15neuron migrationGO:00017649.5CDK5, DCX, PAFAH1B1, RELN, TUBB2B
16nervous system developmentGO:00073999.4CDK5, DCX, KIF2A, PAFAH1B1, WDR62
17cell cycleGO:00070499.1CDK5, CSNK2A1, KATNB1, KIF2A, PAFAH1B1
18cell divisionGO:00513019.0CDK5, KATNB1, KIF2A, PAFAH1B1, TUBA1A, TUBA1B
19microtubule-based processGO:00070178.7PAFAH1B1, TUBA1A, TUBA1B, TUBB1, TUBB2B, TUBG1

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

idNameGO IDScoreTop Affiliating Genes
1dynein complex bindingGO:007084010.5KATNB1, PAFAH1B1
2microtubule bindingGO:00080179.7DCX, KATNB1, KIF2A, PAFAH1B1
3GTP bindingGO:00055258.9TUBA1A, TUBA1B, TUBB1, TUBB2B, TUBG1
4GTPase activityGO:00039248.9TUBA1A, TUBA1B, TUBB1, TUBB2B, TUBG1
5structural constituent of cytoskeletonGO:00052008.3TUBA1A, TUBA1B, TUBB1, TUBB2B, TUBG1

Sources for Pachygyria

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet