MCID: PCH002
MIFTS: 35

Pachygyria

Categories: Neuronal diseases, Rare diseases

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:



External Ids:

UMLS 73 C0266483

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 lissencephaly and neuronal migration disorders. An important gene associated with Pachygyria is ADGRG1 (Adhesion G Protein-Coupled Receptor G1), and among its related pathways/superpathways are Cell Cycle, Mitotic and Regulation of PLK1 Activity at G2/M Transition. Affiliated tissues include brain and cortex, and related phenotype is cellular.

Wikipedia : 76 Pachygyria (from the Greek "pachy" meaning "thick" or "fat" gyri) is a congenital malformation of the... 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 lissencephaly 31.9 PAFAH1B1 TUBA1A
2 neuronal migration disorders 31.3 ADGRG1 PAFAH1B1
3 miller-dieker lissencephaly syndrome 31.3 PAFAH1B1 TUBA1A
4 band heterotopia 31.1 KIF2A PAFAH1B1 TUBA1A TUBG1
5 pachygyria with mental retardation, seizures, and arachnoid cysts 12.3
6 pachygyria, frontotemporal 12.3
7 pachygyria-intellectual disability-epilepsy syndrome 12.2
8 central bilateral macrogyria 12.1
9 agyria pachygyria polymicrogyria 12.0
10 agyria-pachygyria type 1 12.0
11 baraitser-winter syndrome 1 11.7
12 cortical malformations, occipital 11.7
13 lissencephaly 1 11.6
14 kuzniecky andermann syndrome 11.2
15 spondylometaphyseal dysplasia, sedaghatian type 11.1
16 lissencephaly 6 with microcephaly 11.1
17 winter harding hyde syndrome 11.0
18 aicardi-goutieres syndrome 1 10.9
19 galloway-mowat syndrome 1 10.9
20 galloway-mowat syndrome 2, x-linked 10.9
21 aicardi syndrome 10.9
22 microcephaly 2, primary, autosomal recessive, with or without cortical malformations 10.9
23 lissencephaly 3 10.9
24 chromosome 2p16.1-p15 deletion syndrome 10.9
25 mental retardation, autosomal recessive 34, with variant lissencephaly 10.9
26 cortical dysplasia, complex, with other brain malformations 3 10.9
27 cortical dysplasia, complex, with other brain malformations 4 10.9
28 lissencephaly 7 with cerebellar hypoplasia 10.9
29 okur-chung neurodevelopmental syndrome 10.9
30 lissencephaly 8 10.9
31 peho-like syndrome 10.9
32 galloway-mowat syndrome 3 10.9
33 galloway-mowat syndrome 4 10.9
34 galloway-mowat syndrome 5 10.9
35 epilepsy 10.4
36 polymicrogyria 10.3
37 cerebellar hypoplasia 10.2
38 microcephaly 10.2
39 pseudobulbar palsy 10.0
40 foix chavany marie syndrome 10.0
41 arachnoid cysts 10.0
42 congenital cytomegalovirus 10.0
43 hypotonia 10.0
44 cytomegalovirus infection 10.0
45 congenital nervous system abnormality 9.9 PAFAH1B1 TUBA1A
46 spondyloepimetaphyseal dysplasia, strudwick type 9.9
47 spinal muscular atrophy, type i 9.9
48 myopathy, congenital 9.9
49 neu-laxova syndrome 1 9.9
50 weaver syndrome 9.9

Graphical network of the top 20 diseases related to Pachygyria:



Diseases related to Pachygyria

Symptoms & Phenotypes for Pachygyria

MGI Mouse Phenotypes related to Pachygyria:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.02 ADGRG1 KIF2A PAFAH1B1 TUBA1A TUBG1

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 103)
# Title Authors Year
1
New Pachygyria Syndrome Linked to Actin Regulation Identified: When mutated, CTNNA2 leads to a new form of pachygyria that has a diffuse anterior-posterior gradient with cerebellar hypoplasia, thinning corpus callosum, and absent anterior commissure. ( 30537274 )
2018
2
Familial dominant epilepsy and mild pachygyria associated with a constitutional LIS1 mutation. ( 30144370 )
2018
3
Congenital pial AVF along the falx cerebri with complete agenesis of the corpus callosum and bilateral parasagittal pachygyria-polymicrogyria secondary to chronic ischemia. ( 30539296 )
2018
4
De novo mutation in DEPDC5 associated with unilateral pachygyria and intractable epilepsy. ( 28549235 )
2017
5
Lissencephaly-pachygyria Masquerading as Leukodystrophy on Magnetic Resonance Imaging Brain. ( 28904573 )
2017
6
A case report on dental management of a toddler with Pachygyria. ( 28512554 )
2017
7
"Reverse Tigroid" Pattern in Pachygyria: A Novel Finding. ( 27195181 )
2016
8
De Novo TUBB2A Variant Presenting With Anterior Temporal Pachygyria. ( 27770045 )
2016
9
Familial pachygyria in both genders related to a DCX mutation. ( 26743950 )
2016
10
Recurrent KIF5C mutation leading to frontal pachygyria without microcephaly. ( 26384676 )
2015
11
Pachygyria, seizures, hypotonia, and growth retardation in a patient with an atypical 1.33Mb inherited microduplication at 22q11.23. ( 26099517 )
2015
12
Primary Microcephaly With Anterior Predominant Pachygyria Caused by Novel Compound Heterozygous Mutations in ASPM. ( 25765464 )
2015
13
Pachygyria Presented as Mania. ( 26702182 )
2015
14
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
15
Demonstration of different histological layers of the pachygyria/agyria cortex using diffusion tensor MR imaging. ( 23262553 )
2013
16
Epileptogenic pachygyria demonstrating on FDG PET. ( 22157055 )
2012
17
Frontotemporal pachygyria-two new patients. ( 23022981 )
2012
18
Symmetric polymicrogyria and pachygyria associated with TUBB2B gene mutations. ( 22333901 )
2012
19
Hot water epilepsy with pachygyria. ( 21932090 )
2012
20
Evaluation of white matter changes in agyria-pachygyria complex using diffusion tensor imaging. ( 20929906 )
2011
21
Mania and pachygyria. ( 21948916 )
2011
22
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
23
Familial Lennox-Gastaut syndrome in male siblings with a novel DCX mutation and anterior pachygyria. ( 20726879 )
2010
24
Novel VLDLR microdeletion identified in two Turkish siblings with pachygyria and pontocerebellar atrophy. ( 20082205 )
2010
25
A case of Baraitser-Winter syndrome with unusual brain MRI findings: pachygyria, subcortical-band heterotopia, and periventricular heterotopia. ( 19477093 )
2010
26
Infantile spasms associated with lissencephaly pachygyria in a female twin. ( 20508363 )
2010
27
The syndrome of pachygyria, mental retardation, and arachnoid cysts maps to 11p15. ( 19876906 )
2009
28
Duane retraction syndrome, nystagmus, retinal pigment epitheliopathy and epiretinal membrane with micro- and pachygyria, developmental delay, hearing loss and craniopharyngioma. ( 19172504 )
2009
29
A case of isolated pachygyria with unusual clinical onset in the neonatal period. ( 19216204 )
2008
30
A pachygyria-causing alpha-tubulin mutation results in inefficient cycling with CCT and a deficient interaction with TBCB. ( 18199681 )
2008
31
Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A). ( 17584854 )
2007
32
Apparently novel genetic syndrome of pachygyria, mental retardation, seizure, and arachnoid cysts. ( 17343267 )
2007
33
A rare case of epilepsy in a 16-year-old girl with fallot tetralogy attributed to CNS heterotopia and pachygyria. ( 17431068 )
2007
34
A new lethal case of joint contractures, facial abnormalities, pachygyria plus early-onset encephalopathy with a suppression-burst EEG pattern. ( 17412623 )
2007
35
Pachygyria in a neonate with trisomy 21. ( 17356314 )
2007
36
A new autosomal recessive disorder of bilateral frontotemporal pachygyria without microcephaly: report of a case and review of literature. ( 17272902 )
2007
37
Sedaghatian spondylometaphyseal dysplasia with pachygyria and absence of the corpus callosum. ( 16892303 )
2006
38
High myopia and congenital myopathy with partial pachygyria in cutis laxa syndrome. ( 16496270 )
2006
39
Severe epilepsy and pachygyria associated with peculiar facial traits characterize Fryns-Aftimos syndrome. ( 15794188 )
2005
40
Re: polymicrogyria versus pachygyria in 22q11 microdeletion. ( 16001437 )
2005
41
MRI supported diagnosis and counselling in a family with a probably autosomal recessive form of pachygyria. ( 16240462 )
2005
42
Extreme microcephaly with agyria-pachygyria, partial agenesis of the corpus callosum, and pontocerebellar dysplasia. ( 15794192 )
2005
43
Pachygyria in a girl with microcephalic osteodysplastic primordial short stature type II. ( 15737708 )
2005
44
Pachygyria and cerebellar hypoplasia in a patient with a 2q22-q23 deletion that includes the ZFHX1B gene. ( 15103730 )
2004
45
Autosomal recessive frontotemporal pachygyria. ( 14708094 )
2004
46
Chromosome 22q11 deletion and pachygyria characterized by array-based comparative genomic hybridization. ( 15523606 )
2004
47
Agyria-pachygyria complex: MR findings and correlation with clinical features. ( 14738944 )
2004
48
Bilateral posterior agyria-pachygyria and epilepsy. ( 12581809 )
2003
49
Pachygyria and polymicrogyria in 22q11 deletion syndrome. ( 12548745 )
2003
50
Pachygyria and cerebellar hypoplasia in Goldberg-Shprintzen syndrome. ( 12687674 )
2003

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
3 ADGRG1 NM_005682.6(ADGRG1): c.1601dup (p.Ala535Glyfs) duplication Pathogenic GRCh38 Chromosome 16, 57660795: 57660795
4 ADGRG1 NM_005682.6(ADGRG1): c.1601dup (p.Ala535Glyfs) duplication Pathogenic GRCh37 Chromosome 16, 57694707: 57694707

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 12)
# Name GO ID Score Top Affiliating Genes
1 centrosome GO:0005813 9.63 KIF2A PAFAH1B1 TUBG1
2 cytoskeleton GO:0005856 9.62 KIF2A PAFAH1B1 TUBA1A TUBG1
3 microtubule organizing center GO:0005815 9.58 KIF2A PAFAH1B1 TUBG1
4 microtubule cytoskeleton GO:0015630 9.51 PAFAH1B1 TUBA1A
5 centriole GO:0005814 9.49 KIF2A TUBG1
6 recycling endosome GO:0055037 9.48 TUBA1A TUBG1
7 kinesin complex GO:0005871 9.43 KIF2A PAFAH1B1
8 cell leading edge GO:0031252 9.37 PAFAH1B1 TUBG1
9 spindle GO:0005819 9.33 KIF2A PAFAH1B1 TUBG1
10 spindle microtubule GO:0005876 9.26 KIF2A TUBG1
11 microtubule GO:0005874 9.26 KIF2A PAFAH1B1 TUBA1A TUBG1
12 cytoplasmic microtubule GO:0005881 8.8 PAFAH1B1 TUBA1A TUBG1

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 cell differentiation GO:0030154 9.67 ADGRG1 KIF2A PAFAH1B1
2 nervous system development GO:0007399 9.63 ADGRG1 KIF2A PAFAH1B1
3 cell division GO:0051301 9.61 KIF2A PAFAH1B1 TUBA1A
4 cell migration GO:0016477 9.51 ADGRG1 PAFAH1B1
5 G2/M transition of mitotic cell cycle GO:0000086 9.5 PAFAH1B1 TUBA1A TUBG1
6 mitotic cell cycle GO:0000278 9.48 TUBA1A TUBG1
7 ciliary basal body-plasma membrane docking GO:0097711 9.43 PAFAH1B1 TUBA1A TUBG1
8 mitotic spindle organization GO:0007052 9.4 KIF2A TUBG1
9 layer formation in cerebral cortex GO:0021819 9.37 ADGRG1 PAFAH1B1
10 regulation of G2/M transition of mitotic cell cycle GO:0010389 9.33 PAFAH1B1 TUBA1A TUBG1
11 microtubule-based process GO:0007017 9.13 PAFAH1B1 TUBA1A TUBG1
12 microtubule cytoskeleton organization GO:0000226 8.92 KIF2A PAFAH1B1 TUBA1A TUBG1

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

# Name GO ID Score Top Affiliating Genes
1 heparin binding GO:0008201 8.96 ADGRG1 PAFAH1B1
2 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
46 MGI
49 NCI
50 NCIt
51 NDF-RT
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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