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 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 Neuroscience and Reelin signaling pathway. Affiliated tissues include cortex and brain, and related mouse phenotypes are Increased number of mitotic cells and nervous system.

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 68)
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
24dfnx1 nonsyndromic hearing loss and deafness10.4DCX, PAFAH1B1
25noonan syndrome 1010.3DCX, PAFAH1B1
26mental retardation, x-linked, syndromic 1510.3DCX, PAFAH1B1
27amyotrophic lateral sclerosis 1810.2PAFAH1B1, TUBA1A
28coloboma, ocular10.1DCX, PAFAH1B1
29epilepsy10.0
30early-onset glaucoma10.0TUBA1A, TUBA1B
31polymicrogyria10.0
32microcephaly9.9
33epilepsy, familial temporal lobe, 79.9PAFAH1B1, RELN
34premature ovarian failure 89.9PAFAH1B1, RELN
35cerebellar hypoplasia9.9
36neuronitis9.9
37usher syndrome type ii9.9TUBA1A, TUBB2B, TUBG1
38arachnoiditis9.8
39arachnoid cysts9.8
40subcortical band heterotopia9.8
41hypotonia9.8
42band heterotopia9.8
43retinitis pigmentosa 139.7DCX, PAFAH1B1, RELN
44o'sullivan-mcleod syndrome9.7DCX, PAFAH1B1, RELN
45weaver syndrome9.6
46hydrocephalus9.6
47lennox-gastaut syndrome9.6
48baraitser-winter syndrome9.6
49congenital myopathy9.6
50myopia9.6

Graphical network of the top 20 diseases related to Pachygyria:



Diseases related to pachygyria

Symptoms & Phenotypes for Pachygyria

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GenomeRNAi Phenotypes related to Pachygyria according to GeneCards Suite gene sharing:

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00098-A-39.8TUBA1A, TUBA1B, TUBB2B

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

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00036316.4CDK5, DCX, KATNB1, KIF2A, LAMC3, PAFAH1B1

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
Cortex, Brain

Publications for Pachygyria

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Articles related to Pachygyria:

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

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 14)
idSuper pathwaysScoreTop Affiliating Genes
19.1CDK5, DCX, PAFAH1B1, TUBA1B
29.0CDK5, PAFAH1B1, RELN
3
Show member pathways
9.0TUBA1A, TUBA1B, TUBB2B
4
Show member pathways
9.0TUBA1A, TUBA1B, TUBB2B
5
Show member pathways
9.0TUBA1A, TUBA1B, TUBB2B
69.0TUBA1A, TUBA1B, TUBB2B
7
Show member pathways
9.0TUBA1A, TUBA1B, TUBB2B
89.0TUBA1A, TUBA1B, TUBB2B
9
Show member pathways
9.0TUBA1A, TUBA1B, TUBB2B
108.8CDK5, KIF2A, RELN
118.8DCX, PAFAH1B1, TUBA1A, TUBA1B, TUBG1
128.8CDK5, DCX, PAFAH1B1, RELN
13
Show member pathways
8.7CDK5, TUBA1A, TUBA1B, TUBB2B
14
Show member pathways
8.4CDK5, 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
1cell leading edgeGO:003125210.6PAFAH1B1, TUBG1
2microtubule associated complexGO:000587510.5DCX, PAFAH1B1
3spindle microtubuleGO:000587610.2KIF2A, TUBG1
4growth coneGO:003042610.1CDK5, KATNB1, PAFAH1B1
5cytoplasmic microtubuleGO:000588110.0TUBA1A, TUBA1B, TUBG1
6centrosomeGO:00058139.2KATNB1, KIF2A, PAFAH1B1, TUBG1, WDR62
7spindle poleGO:00009229.1KATNB1, KIF2A, WDR62
8microtubuleGO:00058748.9DCX, KATNB1, TUBA1A, TUBA1B, TUBB2B

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

(show all 18)
idNameGO IDScoreTop Affiliating Genes
1axon extensionGO:004867510.6CDK5, DCX
2dendrite morphogenesisGO:004881310.5CDK5, DCX
3cytoskeleton-dependent intracellular transportGO:003070510.3TUBA1A, TUBA1B
4G2/M transition of mitotic cell cycleGO:000008610.2PAFAH1B1, TUBA1A, TUBG1
5mitotic spindle organizationGO:000705210.1KIF2A, WDR62
6associative learningGO:000830610.0CDK5, RELN
7microtubule cytoskeleton organizationGO:000022610.0PAFAH1B1, TUBA1B, TUBG1
8cell morphogenesis involved in differentiationGO:00009049.9LAMC3, RELN
9brain developmentGO:00074209.8DCX, PAFAH1B1, RELN
10cell migrationGO:00164779.7CDK5, PAFAH1B1, RELN
11positive regulation of dendritic spine morphogenesisGO:00610039.7PAFAH1B1, RELN
12hippocampus developmentGO:00217669.4CDK5, DCX, PAFAH1B1, RELN
13layer formation in cerebral cortexGO:00218199.4CDK5, DCX, PAFAH1B1, RELN
14microtubule-based processGO:00070179.3PAFAH1B1, TUBA1A, TUBA1B, TUBB2B
15cerebral cortex developmentGO:00219879.3CDK5, PAFAH1B1, RELN, WDR62
16protein localization to synapseGO:00354189.3CDK5, RELN
17cell divisionGO:00513019.0CDK5, KATNB1, KIF2A, TUBA1A, TUBA1B
18neuron migrationGO:00017648.5CDK5, DCX, PAFAH1B1, RELN, TUBB2B

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

idNameGO IDScoreTop Affiliating Genes
1dynein bindingGO:004550210.5KATNB1, PAFAH1B1
2microtubule bindingGO:00080179.6DCX, KATNB1, KIF2A, PAFAH1B1
3GTP bindingGO:00055259.4TUBA1A, TUBA1B, TUBB2B, TUBG1
4GTPase activityGO:00039249.4TUBA1A, TUBA1B, TUBB2B, TUBG1
5structural constituent of cytoskeletonGO:00052009.3TUBA1A, TUBA1B, TUBB2B, TUBG1
6structural molecule activityGO:00051989.2LAMC3, TUBA1A, TUBA1B

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