MCID: PCH002
MIFTS: 39

Pachygyria malady

Categories: Rare diseases, Genetic diseases

Aliases & Classifications for Pachygyria

Aliases & Descriptions for Pachygyria:

Name: Pachygyria 50 24 29 69
Macrogyria 50 29
Broad Gyri of Cerebrum 50
Large Gyri of Cerebrum 50

Classifications:



Summaries for Pachygyria

NIH Rare Diseases : 50 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/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 : 71 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 74)
id Related Disease Score Top Affiliating Genes
1 pachygyria with mental retardation, seizures, and arachnoid cysts 12.1
2 pachygyria, frontotemporal 11.9
3 macrogyria, pseudobulbar palsy and mental retardation 11.8
4 central bilateral macrogyria 11.8
5 agyria pachygyria polymicrogyria 11.7
6 agyria-pachygyria type 1 11.7
7 cortical malformations, occipital 11.4
8 baraitser-winter syndrome 1 11.3
9 lissencephaly 11.1
10 neuronal migration disorders 11.0
11 lissencephaly 1 10.9
12 lissencephaly 6, with microcephaly 10.8
13 winter harding hyde syndrome 10.8
14 microcephaly, cortical malformations, and mental retardation 10.8
15 cortical dysplasia, complex, with other brain malformations 3 10.7
16 lissencephaly 7 with cerebellar hypoplasia 10.7
17 okur-chung neurodevelopmental syndrome 10.7
18 lissencephaly 3 10.7
19 lissencephaly 8 10.7
20 miller-dieker lissencephaly syndrome 10.7
21 cortical dysplasia, complex, with other brain malformations 4 10.7
22 microcephaly 2, primary, autosomal recessive, with or without cortical malformations 10.7
23 spondylometaphyseal dysplasia, sedaghatian type 10.7
24 isolated 17-linked lissencephaly 10.7
25 deafness and hereditary hearing loss 10.2 DCX PAFAH1B1
26 autosomal recessive spastic paraplegia type 70 10.2 TUBA1A TUBB2B
27 noonan syndrome 10 10.2 DCX PAFAH1B1
28 kcne2-related familial atrial fibrillation 10.2 DCX PAFAH1B1 RELN
29 hereditary cerebral amyloid angiopathy 10.1 TUBA1A TUBA1B
30 right ventricular hypoplasia, isolated 10.1 DCX PAFAH1B1
31 lung agenesis 10.1 DCX PAFAH1B1 RELN
32 y chromosome infertility 10.1 TUBA1A TUBB2B TUBG1
33 persistent vegetative state 10.1 DCX PAFAH1B1 RELN TUBA1A
34 otopalatodigital syndrome, type ii 10.1 DCX PAFAH1B1 RELN TUBA1A
35 mental retardation, x-linked, syndromic 15 10.1 DCX PAFAH1B1
36 mlc1-related megalencephalic leukoencephalopathy with subcortical cysts 10.1 KATNB1 TUBA1A TUBB2B
37 epilepsy 10.0
38 fibrous dysplasia 10.0 DCX PAFAH1B1 TUBA1A WDR62
39 polymicrogyria 10.0
40 meier-gorlin syndrome 6 10.0 DCX KIF2A PAFAH1B1 TUBG1
41 aids - neurological complications 9.9 CDK5 DCX PAFAH1B1 RELN TUBA1A
42 superficial spreading melanoma 9.9 DCX KIF2A PAFAH1B1 TUBG1
43 microcephaly 9.9
44 cerebellar hypoplasia 9.9
45 neuronitis 9.9
46 angiodysplasia 9.8 DCX PAFAH1B1 RELN TUBA1A TUBB2B WDR62
47 hypotonia 9.8
48 arachnoid cysts 9.8
49 arachnoiditis 9.8
50 band heterotopia 9.8

Graphical network of the top 20 diseases related to Pachygyria:



Diseases related to Pachygyria

Symptoms & Phenotypes for Pachygyria

MGI Mouse Phenotypes related to Pachygyria:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.91 KIF2A PAFAH1B1 RELN TMTC3 TUBA1A TUBB2B
2 growth/size/body region MP:0005378 9.81 CSNK2A1 DCX KATNB1 PAFAH1B1 RELN TMTC3
3 mortality/aging MP:0010768 9.65 CDK5 CSNK2A1 DCX KATNB1 KIF2A PAFAH1B1
4 nervous system MP:0003631 9.36 CDK5 CSNK2A1 DCX KATNB1 KIF2A LAMC3

Drugs & Therapeutics for Pachygyria

Search Clinical Trials , NIH Clinical Center for Pachygyria

Genetic Tests for Pachygyria

Genetic tests related to Pachygyria:

id Genetic test Affiliating Genes
1 Pachygyria 29 24
2 Macrogyria 29

Anatomical Context for Pachygyria

MalaCards organs/tissues related to Pachygyria:

39
Brain, Cortex

Publications for Pachygyria

Articles related to Pachygyria:

(show top 50) (show all 91)
id Title Authors Year
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

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)
id Super pathways Score Top Affiliating Genes
1 12.35 CDK5 DCX PAFAH1B1 TUBA1B
2
Show member pathways
12.35 CDK5 TUBA1A TUBA1B TUBB1 TUBB2B
3 12.31 DCX PAFAH1B1 TUBA1A TUBA1B TUBG1
4
Show member pathways
12.22 TUBA1A TUBA1B TUBB1 TUBB2B
5
Show member pathways
12.19 TUBA1A TUBA1B TUBB1 TUBB2B
6
Show member pathways
12.04 CSNK2A1 TUBA1A TUBA1B TUBB1 TUBB2B
7 11.98 TUBA1A TUBA1B TUBB1 TUBB2B
8
Show member pathways
11.94 TUBA1A TUBA1B TUBB1 TUBB2B
9
Show member pathways
11.79 TUBA1A TUBA1B TUBB1 TUBB2B
10
Show member pathways
11.77 CSNK2A1 TUBA1A TUBA1B TUBB1 TUBB2B
11 11.73 CDK5 KIF2A RELN
12 11.6 TUBA1A TUBA1B TUBB1 TUBB2B
13
Show member pathways
11.47 CDK5 TUBA1A TUBA1B TUBB1 TUBB2B TUBG1
14 11.01 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:

id Name GO ID Score Top Affiliating Genes
1 centrosome GO:0005813 9.77 KATNB1 KIF2A PAFAH1B1 TUBG1 WDR62
2 cytoskeleton GO:0005856 9.7 CDK5 DCX KATNB1 KIF2A PAFAH1B1 TUBA1A
3 microtubule organizing center GO:0005815 9.65 KATNB1 KIF2A PAFAH1B1 TUBG1 WDR62
4 growth cone GO:0030426 9.63 CDK5 KATNB1 PAFAH1B1
5 microtubule cytoskeleton GO:0015630 9.63 KATNB1 PAFAH1B1 TUBA1A TUBA1B TUBB1 TUBB2B
6 spindle pole GO:0000922 9.61 KATNB1 KIF2A WDR62
7 cytoplasmic microtubule GO:0005881 9.5 TUBA1A TUBA1B TUBG1
8 microtubule associated complex GO:0005875 9.48 DCX PAFAH1B1
9 microtubule GO:0005874 9.28 DCX KATNB1 KIF2A PAFAH1B1 TUBA1A TUBA1B
10 cytoplasm GO:0005737 10.18 CDK5 DCX KATNB1 KIF2A PAFAH1B1 RELN

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

(show all 19)
id Name GO ID Score Top Affiliating Genes
1 cell cycle GO:0007049 9.91 CDK5 CSNK2A1 KATNB1 KIF2A PAFAH1B1
2 nervous system development GO:0007399 9.85 CDK5 DCX KIF2A PAFAH1B1 WDR62
3 cell division GO:0051301 9.8 CDK5 KATNB1 KIF2A PAFAH1B1 TUBA1A TUBA1B
4 cytoskeleton organization GO:0007010 9.75 TUBA1A TUBA1B TUBB2B
5 G2/M transition of mitotic cell cycle GO:0000086 9.72 PAFAH1B1 TUBA1A TUBG1
6 cerebral cortex development GO:0021987 9.67 CDK5 PAFAH1B1 RELN WDR62
7 ciliary basal body docking GO:0097711 9.65 PAFAH1B1 TUBA1A TUBG1
8 microtubule cytoskeleton organization GO:0000226 9.61 PAFAH1B1 TUBA1B TUBG1
9 mitotic spindle organization GO:0007052 9.58 KIF2A WDR62
10 associative learning GO:0008306 9.57 CDK5 RELN
11 axon extension GO:0048675 9.56 CDK5 DCX
12 hippocampus development GO:0021766 9.56 CDK5 DCX PAFAH1B1 RELN
13 neuron migration GO:0001764 9.55 CDK5 DCX PAFAH1B1 RELN TUBB2B
14 positive regulation of dendritic spine morphogenesis GO:0061003 9.54 PAFAH1B1 RELN
15 cytoskeleton-dependent intracellular transport GO:0030705 9.52 TUBA1A TUBA1B
16 protein localization to synapse GO:0035418 9.49 CDK5 RELN
17 cell morphogenesis involved in differentiation GO:0000904 9.4 LAMC3 RELN
18 layer formation in cerebral cortex GO:0021819 9.26 CDK5 DCX PAFAH1B1 RELN
19 microtubule-based process GO:0007017 9.1 PAFAH1B1 TUBA1A TUBA1B TUBB1 TUBB2B TUBG1

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

id Name GO ID Score Top Affiliating Genes
1 microtubule binding GO:0008017 9.56 DCX KATNB1 KIF2A PAFAH1B1
2 GTP binding GO:0005525 9.55 TUBA1A TUBA1B TUBB1 TUBB2B TUBG1
3 GTPase activity GO:0003924 9.35 TUBA1A TUBA1B TUBB1 TUBB2B TUBG1
4 dynein complex binding GO:0070840 9.32 KATNB1 PAFAH1B1
5 structural constituent of cytoskeleton GO:0005200 9.02 TUBA1A TUBA1B TUBB1 TUBB2B TUBG1

Sources for Pachygyria

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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