Aliases & Classifications for Pachygyria

MalaCards integrated aliases for Pachygyria:

Name: Pachygyria 49 28 69
Macrogyria 49 28
Broad Gyri of Cerebrum 49
Large Gyri of Cerebrum 49

Classifications:



Summaries for Pachygyria

NIH Rare Diseases : 49 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 lissencephaly 1 and neuronal migration disorders. An important gene associated with Pachygyria is PAFAH1B1 (Platelet Activating Factor Acetylhydrolase 1b Regulatory Subunit 1), and among its related pathways/superpathways are Neuroscience and Development Slit-Robo signaling. Affiliated tissues include brain and cortex, and related phenotypes are cellular and growth/size/body region

Wikipedia : 72 Pachygyria (from the Greek \"pachy\" meaning \"thick\" or \"fat\" gyri) is a congenital malformation of... more...

Related Diseases for Pachygyria

Diseases related to Pachygyria via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 84)
# Related Disease Score Top Affiliating Genes
1 lissencephaly 1 31.1 DCX PAFAH1B1 RELN
2 neuronal migration disorders 31.0 DCX PAFAH1B1 RELN
3 lissencephaly 30.0 CDK5 DCX KATNB1 PAFAH1B1 RELN TMTC3
4 subcortical band heterotopia 29.6 DCX KIF2A PAFAH1B1 TUBG1
5 band heterotopia 29.6 DCX KIF2A PAFAH1B1 TUBG1
6 microcephaly 29.4 KATNB1 TUBA1A TUBG1 WDR62
7 microlissencephaly 29.4 KATNB1 TUBA1A TUBB2B
8 cerebellar hypoplasia 29.3 DCX PAFAH1B1 RELN
9 pachygyria, frontotemporal 12.3
10 pachygyria with mental retardation, seizures, and arachnoid cysts 12.2
11 pachygyria-intellectual disability-epilepsy syndrome 12.1
12 central bilateral macrogyria 11.9
13 agyria pachygyria polymicrogyria 11.9
14 agyria-pachygyria type 1 11.9
15 baraitser-winter syndrome 1 11.5
16 cortical malformations, occipital 11.5
17 lissencephaly 6 with microcephaly 10.9
18 spondylometaphyseal dysplasia, sedaghatian type 10.9
19 winter harding hyde syndrome 10.9
20 lissencephaly 7 with cerebellar hypoplasia 10.8
21 okur-chung neurodevelopmental syndrome 10.8
22 microcephaly 2, primary, autosomal recessive, with or without cortical malformations 10.8
23 lissencephaly 8 10.8
24 aicardi-goutieres syndrome 1 10.8
25 peho-like syndrome 10.8
26 galloway-mowat syndrome 3 10.8
27 miller-dieker lissencephaly syndrome 10.8
28 lissencephaly 3 10.8
29 galloway-mowat syndrome 4 10.8
30 chromosome 2p16.1-p15 deletion syndrome 10.8
31 galloway-mowat syndrome 5 10.8
32 galloway-mowat syndrome 2, x-linked 10.8
33 mental retardation, autosomal recessive 34, with variant lissencephaly 10.8
34 cortical dysplasia, complex, with other brain malformations 3 10.8
35 aicardi syndrome 10.8
36 cortical dysplasia, complex, with other brain malformations 4 10.8
37 chromosome 17p13.3, centromeric, duplication syndrome 10.3 DCX PAFAH1B1
38 epilepsy 10.1
39 lissencephaly, x-linked, 1 10.1 DCX PAFAH1B1
40 polymicrogyria, bilateral temporooccipital 10.1
41 polymicrogyria 10.1
42 tubulinopathy-associated dysgyria 10.0 TUBA1A TUBB2B
43 distal hereditary motor neuropathy, type ii 10.0 TUBA1A TUBA1B
44 neuronitis 9.9
45 physical disorder 9.9 DCX PAFAH1B1 TUBA1A WDR62
46 arachnoiditis 9.9
47 hypotonia 9.9
48 arachnoid cysts 9.9
49 corpus callosum, partial agenesis of, x-linked 9.7
50 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.7

Graphical network of the top 20 diseases related to Pachygyria:



Diseases related to Pachygyria

Symptoms & Phenotypes for Pachygyria

MGI Mouse Phenotypes related to Pachygyria:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.96 TUBG1 WDR62 CCDC88A KATNB1 KIF2A PAFAH1B1
2 growth/size/body region MP:0005378 9.85 CCDC88A CSNK2A1 DCX KATNB1 PAFAH1B1 RELN
3 mortality/aging MP:0010768 9.7 CCDC88A CDK5 CSNK2A1 DCX KATNB1 KIF2A
4 nervous system MP:0003631 9.4 CCDC88A CDK5 CSNK2A1 DCX KATNB1 KIF2A

Drugs & Therapeutics for Pachygyria

Search Clinical Trials , NIH Clinical Center for Pachygyria

Genetic Tests for Pachygyria

Genetic tests related to Pachygyria:

# Genetic test Affiliating Genes
1 Pachygyria 28
2 Macrogyria 28

Anatomical Context for Pachygyria

MalaCards organs/tissues related to Pachygyria:

38
Brain, Cortex

Publications for Pachygyria

Articles related to Pachygyria:

(show top 50) (show all 94)
# Title Authors Year
1
De novo mutation in DEPDC5 associated with unilateral pachygyria and intractable epilepsy. ( 28549235 )
2017
2
A case report on dental management of a toddler with Pachygyria. ( 28512554 )
2017
3
Lissencephaly-pachygyria Masquerading as Leukodystrophy on Magnetic Resonance Imaging Brain. ( 28904573 )
2017
4
"Reverse Tigroid" Pattern in Pachygyria: A Novel Finding. ( 27195181 )
2016
5
De Novo TUBB2A Variant Presenting With Anterior Temporal Pachygyria. ( 27770045 )
2016
6
Familial pachygyria in both genders related to a DCX mutation. ( 26743950 )
2016
7
Primary Microcephaly With Anterior Predominant Pachygyria Caused by Novel Compound Heterozygous Mutations in ASPM. ( 25765464 )
2015
8
Pachygyria Presented as Mania. ( 26702182 )
2015
9
Recurrent KIF5C mutation leading to frontal pachygyria without microcephaly. ( 26384676 )
2015
10
Pachygyria, seizures, hypotonia, and growth retardation in a patient with an atypical 1.33Mb inherited microduplication at 22q11.23. ( 26099517 )
2015
11
Demonstration of different histological layers of the pachygyria/agyria cortex using diffusion tensor MR imaging. ( 23262553 )
2013
12
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
13
Symmetric polymicrogyria and pachygyria associated with TUBB2B gene mutations. ( 22333901 )
2012
14
Epileptogenic pachygyria demonstrating on FDG PET. ( 22157055 )
2012
15
Hot water epilepsy with pachygyria. ( 21932090 )
2012
16
Frontotemporal pachygyria-two new patients. ( 23022981 )
2012
17
Evaluation of white matter changes in agyria-pachygyria complex using diffusion tensor imaging. ( 20929906 )
2011
18
Mania and pachygyria. ( 21948916 )
2011
19
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
20
Novel VLDLR microdeletion identified in two Turkish siblings with pachygyria and pontocerebellar atrophy. ( 20082205 )
2010
21
Infantile spasms associated with lissencephaly pachygyria in a female twin. ( 20508363 )
2010
22
Familial Lennox-Gastaut syndrome in male siblings with a novel DCX mutation and anterior pachygyria. ( 20726879 )
2010
23
A case of Baraitser-Winter syndrome with unusual brain MRI findings: pachygyria, subcortical-band heterotopia, and periventricular heterotopia. ( 19477093 )
2010
24
The syndrome of pachygyria, mental retardation, and arachnoid cysts maps to 11p15. ( 19876906 )
2009
25
Duane retraction syndrome, nystagmus, retinal pigment epitheliopathy and epiretinal membrane with micro- and pachygyria, developmental delay, hearing loss and craniopharyngioma. ( 19172504 )
2009
26
A case of isolated pachygyria with unusual clinical onset in the neonatal period. ( 19216204 )
2008
27
A pachygyria-causing alpha-tubulin mutation results in inefficient cycling with CCT and a deficient interaction with TBCB. ( 18199681 )
2008
28
Pachygyria in a neonate with trisomy 21. ( 17356314 )
2007
29
Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A). ( 17584854 )
2007
30
A rare case of epilepsy in a 16-year-old girl with fallot tetralogy attributed to CNS heterotopia and pachygyria. ( 17431068 )
2007
31
Apparently novel genetic syndrome of pachygyria, mental retardation, seizure, and arachnoid cysts. ( 17343267 )
2007
32
A new autosomal recessive disorder of bilateral frontotemporal pachygyria without microcephaly: report of a case and review of literature. ( 17272902 )
2007
33
A new lethal case of joint contractures, facial abnormalities, pachygyria plus early-onset encephalopathy with a suppression-burst EEG pattern. ( 17412623 )
2007
34
High myopia and congenital myopathy with partial pachygyria in cutis laxa syndrome. ( 16496270 )
2006
35
Sedaghatian spondylometaphyseal dysplasia with pachygyria and absence of the corpus callosum. ( 16892303 )
2006
36
Pachygyria in a girl with microcephalic osteodysplastic primordial short stature type II. ( 15737708 )
2005
37
Extreme microcephaly with agyria-pachygyria, partial agenesis of the corpus callosum, and pontocerebellar dysplasia. ( 15794192 )
2005
38
Re: polymicrogyria versus pachygyria in 22q11 microdeletion. ( 16001437 )
2005
39
MRI supported diagnosis and counselling in a family with a probably autosomal recessive form of pachygyria. ( 16240462 )
2005
40
Severe epilepsy and pachygyria associated with peculiar facial traits characterize Fryns-Aftimos syndrome. ( 15794188 )
2005
41
Chromosome 22q11 deletion and pachygyria characterized by array-based comparative genomic hybridization. ( 15523606 )
2004
42
Agyria-pachygyria complex: MR findings and correlation with clinical features. ( 14738944 )
2004
43
Pachygyria and cerebellar hypoplasia in a patient with a 2q22-q23 deletion that includes the ZFHX1B gene. ( 15103730 )
2004
44
Autosomal recessive frontotemporal pachygyria. ( 14708094 )
2004
45
Pachygyria and polymicrogyria in 22q11 deletion syndrome. ( 12548745 )
2003
46
Pachygyria and cerebellar hypoplasia in Goldberg-Shprintzen syndrome. ( 12687674 )
2003
47
Bilateral posterior agyria-pachygyria and epilepsy. ( 12581809 )
2003
48
Agyria-pachygyria: clinical, neuroimaging, and neurophysiologic correlations. ( 12393126 )
2002
49
Localization-related epilepsy mimicking epilepsy with myoclonic absence in a patient with pachygyria. ( 11896877 )
2002
50
Asymmetric arthrogryposis multiplex congenita with focal pachygyria. ( 11587882 )
2001

Variations for Pachygyria

Expression for Pachygyria

Search GEO for disease gene expression data for Pachygyria.

Pathways for Pachygyria

Pathways related to Pachygyria according to GeneCards Suite gene sharing:

(show all 15)
# Super pathways Score Top Affiliating Genes
1 12.37 CDK5 DCX PAFAH1B1 TUBA1B
2
Show member pathways
12.37 CDK5 TUBA1A TUBA1B TUBB1 TUBB2B
3
Show member pathways
12.21 TUBA1A TUBA1B TUBB1 TUBB2B
4
Show member pathways
12.19 CSNK2A1 TUBA1A TUBA1B TUBB1 TUBB2B
5 12.12 CCDC88A DCX PAFAH1B1 TUBA1A TUBA1B TUBG1
6 11.99 TUBA1A TUBA1B TUBB1 TUBB2B
7
Show member pathways
11.95 TUBA1A TUBA1B TUBB1 TUBB2B
8
Show member pathways
11.87 CSNK2A1 TUBA1A TUBA1B TUBB1 TUBB2B
9
Show member pathways
11.84 TUBA1A TUBA1B TUBB1 TUBB2B
10 11.73 CDK5 KIF2A RELN
11 11.65 TUBA1A TUBA1B TUBB1 TUBB2B
12 11.57 TUBA1A TUBA1B TUBB1 TUBB2B
13
Show member pathways
11.47 CDK5 TUBA1A TUBA1B TUBB1 TUBB2B TUBG1
14 11.07 CDK5 PAFAH1B1 RELN
15 10.51 CDK5 CSNK2A1 DCX PAFAH1B1 RELN

GO Terms for Pachygyria

Cellular components related to Pachygyria according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 microtubule organizing center GO:0005815 9.83 KATNB1 KIF2A PAFAH1B1 TUBG1 WDR62
2 centrosome GO:0005813 9.73 CCDC88A KATNB1 KIF2A PAFAH1B1 TUBG1 WDR62
3 cytoskeleton GO:0005856 9.73 CCDC88A CDK5 DCX KATNB1 KIF2A PAFAH1B1
4 spindle pole GO:0000922 9.67 KATNB1 KIF2A WDR62
5 centriole GO:0005814 9.67 CCDC88A KIF2A TUBG1 WDR62
6 growth cone GO:0030426 9.65 CDK5 KATNB1 PAFAH1B1
7 cell leading edge GO:0031252 9.63 CCDC88A PAFAH1B1 TUBG1
8 microtubule cytoskeleton GO:0015630 9.63 KATNB1 PAFAH1B1 TUBA1A TUBA1B TUBB1 TUBB2B
9 cytoplasmic microtubule GO:0005881 9.58 TUBA1A TUBA1B TUBG1
10 microtubule GO:0005874 9.32 CDK5 DCX KATNB1 KIF2A PAFAH1B1 TUBA1A
11 cytoplasm GO:0005737 10.17 CCDC88A CDK5 CSNK2A1 DCX KATNB1 KIF2A

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

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 cell cycle GO:0007049 9.96 CDK5 CSNK2A1 KATNB1 KIF2A PAFAH1B1
2 cell division GO:0051301 9.91 CDK5 KATNB1 KIF2A PAFAH1B1 TUBA1A TUBA1B
3 nervous system development GO:0007399 9.91 CCDC88A CDK5 DCX KIF2A PAFAH1B1 TUBB2B
4 cell migration GO:0016477 9.8 CCDC88A CDK5 PAFAH1B1 RELN
5 cytoskeleton organization GO:0007010 9.77 TUBA1A TUBA1B TUBB2B
6 G2/M transition of mitotic cell cycle GO:0000086 9.75 PAFAH1B1 TUBA1A TUBG1
7 neuron migration GO:0001764 9.72 CDK5 DCX PAFAH1B1 RELN TUBB2B
8 hippocampus development GO:0021766 9.71 CDK5 DCX PAFAH1B1 RELN
9 ciliary basal body-plasma membrane docking GO:0097711 9.7 PAFAH1B1 TUBA1A TUBG1
10 regulation of G2/M transition of mitotic cell cycle GO:0010389 9.69 PAFAH1B1 TUBA1A TUBG1
11 microtubule cytoskeleton organization GO:0000226 9.65 CDK5 KIF2A PAFAH1B1 TUBA1B TUBG1
12 cytoskeleton-dependent intracellular transport GO:0030705 9.63 CCDC88A TUBA1A TUBA1B
13 axon extension GO:0048675 9.59 CDK5 DCX
14 associative learning GO:0008306 9.58 CDK5 RELN
15 positive regulation of dendritic spine morphogenesis GO:0061003 9.57 PAFAH1B1 RELN
16 regulation of protein localization to plasma membrane GO:1903076 9.55 CDK5 CSNK2A1
17 cerebral cortex development GO:0021987 9.55 CDK5 CSNK2A1 PAFAH1B1 RELN WDR62
18 protein localization to synapse GO:0035418 9.54 CDK5 RELN
19 cell morphogenesis involved in differentiation GO:0000904 9.48 LAMC3 RELN
20 layer formation in cerebral cortex GO:0021819 9.26 CDK5 DCX PAFAH1B1 RELN
21 microtubule-based process GO:0007017 9.1 PAFAH1B1 TUBA1A TUBA1B TUBB1 TUBB2B TUBG1

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

# Name GO ID Score Top Affiliating Genes
1 GTP binding GO:0005525 9.65 TUBA1A TUBA1B TUBB1 TUBB2B TUBG1
2 GTPase activity GO:0003924 9.55 TUBA1A TUBA1B TUBB1 TUBB2B TUBG1
3 structural constituent of cytoskeleton GO:0005200 9.35 TUBA1A TUBA1B TUBB1 TUBB2B TUBG1
4 dynein complex binding GO:0070840 9.32 KATNB1 PAFAH1B1
5 microtubule binding GO:0008017 9.1 CCDC88A CDK5 DCX KATNB1 KIF2A PAFAH1B1

Sources for Pachygyria

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
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47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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