Aliases & Classifications for Pachygyria

MalaCards integrated aliases for Pachygyria:

Name: Pachygyria 53 29 6 73
Macrogyria 53 29
Broad Gyri of Cerebrum 53
Large Gyri of Cerebrum 53

Classifications:



Summaries for Pachygyria

NIH Rare Diseases : 53 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.

MalaCards based summary : Pachygyria, also known as macrogyria, is related to band heterotopia 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 Regulation of PLK1 Activity at G2/M Transition and Organelle biogenesis and maintenance. Affiliated tissues include brain and cortex, and related phenotype is Decreased caspase 3/7 activity.

Wikipedia : 76 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 76)
# Related Disease Score Top Affiliating Genes
1 band heterotopia 31.4 PAFAH1B1 TUBG1
2 neuronal migration disorders 31.1 PAFAH1B1 WDR62
3 miller-dieker lissencephaly syndrome 30.9 PAFAH1B1 TUBA1A
4 lissencephaly 30.9 PAFAH1B1 TUBA1A
5 microcephaly 27.3 TP53RK TUBA1A TUBG1 WDR62
6 pachygyria with mental retardation, seizures, and arachnoid cysts 12.2
7 pachygyria, frontotemporal 12.1
8 central bilateral macrogyria 11.9
9 agyria pachygyria polymicrogyria 11.9
10 agyria-pachygyria type 1 11.9
11 pachygyria-intellectual disability-epilepsy syndrome 11.9
12 baraitser-winter syndrome 1 11.5
13 cortical malformations, occipital 11.5
14 lissencephaly 1 11.1
15 lissencephaly 6 with microcephaly 10.9
16 spondylometaphyseal dysplasia, sedaghatian type 10.9
17 winter harding hyde syndrome 10.9
18 cortical dysplasia, complex, with other brain malformations 3 10.8
19 cortical dysplasia, complex, with other brain malformations 4 10.8
20 galloway-mowat syndrome 2, x-linked 10.8
21 aicardi syndrome 10.8
22 lissencephaly 7 with cerebellar hypoplasia 10.8
23 okur-chung neurodevelopmental syndrome 10.8
24 lissencephaly 8 10.8
25 peho-like syndrome 10.8
26 microcephaly 2, primary, autosomal recessive, with or without cortical malformations 10.8
27 galloway-mowat syndrome 3 10.8
28 galloway-mowat syndrome 4 10.8
29 aicardi-goutieres syndrome 1 10.8
30 galloway-mowat syndrome 5 10.8
31 lissencephaly 3 10.8
32 chromosome 2p16.1-p15 deletion syndrome 10.8
33 galloway-mowat syndrome 1 10.8
34 mental retardation, autosomal recessive 34, with variant lissencephaly 10.8
35 epilepsy 10.2
36 polymicrogyria 10.1
37 cerebellar hypoplasia 10.0
38 neuronitis 10.0
39 arachnoiditis 9.9
40 arachnoid cysts 9.9
41 infantile epileptic encephalopathy 9.9
42 cerebritis 9.9
43 hypotonia 9.9
44 periventricular nodular heterotopia 9.8 PAFAH1B1 TUBA1A
45 myopathy, congenital 9.7
46 neu-laxova syndrome 1 9.7
47 myopia 9.7
48 weaver syndrome 9.7
49 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.7
50 duane retraction syndrome 9.7

Graphical network of the top 20 diseases related to Pachygyria:



Diseases related to Pachygyria

Symptoms & Phenotypes for Pachygyria

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased caspase 3/7 activity GR00318-A 8.62 PAFAH1B1 TP53RK

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 29
2 Macrogyria 29

Anatomical Context for Pachygyria

MalaCards organs/tissues related to Pachygyria:

41
Brain, Cortex

Publications for Pachygyria

Articles related to Pachygyria:

(show top 50) (show all 96)
# Title Authors Year
1
De novo mutation in DEPDC5 associated with unilateral pachygyria and intractable epilepsy. ( 28549235 )
2017
2
Lissencephaly-pachygyria Masquerading as Leukodystrophy on Magnetic Resonance Imaging Brain. ( 28904573 )
2017
3
A case report on dental management of a toddler with Pachygyria. ( 28512554 )
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
Recurrent KIF5C mutation leading to frontal pachygyria without microcephaly. ( 26384676 )
2015
8
Pachygyria, seizures, hypotonia, and growth retardation in a patient with an atypical 1.33Mb inherited microduplication at 22q11.23. ( 26099517 )
2015
9
Primary Microcephaly With Anterior Predominant Pachygyria Caused by Novel Compound Heterozygous Mutations in ASPM. ( 25765464 )
2015
10
Pachygyria Presented as Mania. ( 26702182 )
2015
11
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
12
Demonstration of different histological layers of the pachygyria/agyria cortex using diffusion tensor MR imaging. ( 23262553 )
2013
13
Epileptogenic pachygyria demonstrating on FDG PET. ( 22157055 )
2012
14
Frontotemporal pachygyria-two new patients. ( 23022981 )
2012
15
Symmetric polymicrogyria and pachygyria associated with TUBB2B gene mutations. ( 22333901 )
2012
16
Hot water epilepsy with pachygyria. ( 21932090 )
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
Familial Lennox-Gastaut syndrome in male siblings with a novel DCX mutation and anterior pachygyria. ( 20726879 )
2010
21
Novel VLDLR microdeletion identified in two Turkish siblings with pachygyria and pontocerebellar atrophy. ( 20082205 )
2010
22
A case of Baraitser-Winter syndrome with unusual brain MRI findings: pachygyria, subcortical-band heterotopia, and periventricular heterotopia. ( 19477093 )
2010
23
Infantile spasms associated with lissencephaly pachygyria in a female twin. ( 20508363 )
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
Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A). ( 17584854 )
2007
29
Apparently novel genetic syndrome of pachygyria, mental retardation, seizure, and arachnoid cysts. ( 17343267 )
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
A new lethal case of joint contractures, facial abnormalities, pachygyria plus early-onset encephalopathy with a suppression-burst EEG pattern. ( 17412623 )
2007
32
Pachygyria in a neonate with trisomy 21. ( 17356314 )
2007
33
A new autosomal recessive disorder of bilateral frontotemporal pachygyria without microcephaly: report of a case and review of literature. ( 17272902 )
2007
34
Sedaghatian spondylometaphyseal dysplasia with pachygyria and absence of the corpus callosum. ( 16892303 )
2006
35
High myopia and congenital myopathy with partial pachygyria in cutis laxa syndrome. ( 16496270 )
2006
36
Severe epilepsy and pachygyria associated with peculiar facial traits characterize Fryns-Aftimos syndrome. ( 15794188 )
2005
37
Re: polymicrogyria versus pachygyria in 22q11 microdeletion. ( 16001437 )
2005
38
MRI supported diagnosis and counselling in a family with a probably autosomal recessive form of pachygyria. ( 16240462 )
2005
39
Extreme microcephaly with agyria-pachygyria, partial agenesis of the corpus callosum, and pontocerebellar dysplasia. ( 15794192 )
2005
40
Pachygyria in a girl with microcephalic osteodysplastic primordial short stature type II. ( 15737708 )
2005
41
Pachygyria and cerebellar hypoplasia in a patient with a 2q22-q23 deletion that includes the ZFHX1B gene. ( 15103730 )
2004
42
Autosomal recessive frontotemporal pachygyria. ( 14708094 )
2004
43
Chromosome 22q11 deletion and pachygyria characterized by array-based comparative genomic hybridization. ( 15523606 )
2004
44
Agyria-pachygyria complex: MR findings and correlation with clinical features. ( 14738944 )
2004
45
Bilateral posterior agyria-pachygyria and epilepsy. ( 12581809 )
2003
46
Pachygyria and polymicrogyria in 22q11 deletion syndrome. ( 12548745 )
2003
47
Pachygyria and cerebellar hypoplasia in Goldberg-Shprintzen syndrome. ( 12687674 )
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

ClinVar genetic disease variations for Pachygyria:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 DYNC1H1 NM_001376.4(DYNC1H1): c.9930G> A (p.Met3310Ile) single nucleotide variant Uncertain significance GRCh37 Chromosome 14, 102498655: 102498655
2 DYNC1H1 NM_001376.4(DYNC1H1): c.9930G> A (p.Met3310Ile) single nucleotide variant Uncertain significance GRCh38 Chromosome 14, 102032318: 102032318

Expression for Pachygyria

Search GEO for disease gene expression data for Pachygyria.

Pathways for Pachygyria

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 cytosol GO:0005829 9.85 PAFAH1B1 TP53RK TUBA1A TUBG1 WDR62
2 centrosome GO:0005813 9.54 PAFAH1B1 TUBG1 WDR62
3 microtubule organizing center GO:0005815 9.5 PAFAH1B1 TUBG1 WDR62
4 spindle GO:0005819 9.49 PAFAH1B1 TUBG1
5 microtubule cytoskeleton GO:0015630 9.48 PAFAH1B1 TUBA1A
6 centriole GO:0005814 9.43 TUBG1 WDR62
7 recycling endosome GO:0055037 9.4 TUBA1A TUBG1
8 cell leading edge GO:0031252 9.26 PAFAH1B1 TUBG1
9 cytoskeleton GO:0005856 9.26 PAFAH1B1 TUBA1A TUBG1 WDR62
10 cytoplasmic microtubule GO:0005881 9.16 TUBA1A TUBG1
11 microtubule GO:0005874 8.8 PAFAH1B1 TUBA1A TUBG1

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

# Name GO ID Score Top Affiliating Genes
1 G2/M transition of mitotic cell cycle GO:0000086 9.5 PAFAH1B1 TUBA1A TUBG1
2 mitotic cell cycle GO:0000278 9.43 TUBA1A TUBG1
3 microtubule cytoskeleton organization GO:0000226 9.43 PAFAH1B1 TUBA1A TUBG1
4 cerebral cortex development GO:0021987 9.4 PAFAH1B1 WDR62
5 mitotic spindle organization GO:0007052 9.37 TUBG1 WDR62
6 ciliary basal body-plasma membrane docking GO:0097711 9.33 PAFAH1B1 TUBA1A TUBG1
7 regulation of G2/M transition of mitotic cell cycle GO:0010389 9.13 PAFAH1B1 TUBA1A TUBG1
8 microtubule-based process GO:0007017 8.8 PAFAH1B1 TUBA1A TUBG1

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

# Name GO ID Score Top Affiliating Genes
1 structural constituent of cytoskeleton GO:0005200 8.62 TUBA1A TUBG1

Sources for Pachygyria

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
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49 NCI
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54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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