MCID: PCH002
MIFTS: 31

Pachygyria

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Pachygyria

MalaCards integrated aliases for Pachygyria:

Name: Pachygyria 52 29 6 71
Broad Gyri of Cerebrum 52
Large Gyri of Cerebrum 52
Macrogyria 52

Classifications:



External Ids:

UMLS 71 C0266483

Summaries for Pachygyria

NIH Rare Diseases : 52 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 broad gyri of cerebrum, is related to miller-dieker lissencephaly syndrome and lissencephaly. An important gene associated with Pachygyria is ADGRG1 (Adhesion G Protein-Coupled Receptor G1), and among its related pathways/superpathways is Cytoskeletal Signaling. Affiliated tissues include brain, cortex and eye.

Wikipedia : 74 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 159)
# Related Disease Score Top Affiliating Genes
1 miller-dieker lissencephaly syndrome 31.9 TUBA1A PAFAH1B1
2 lissencephaly 31.7 TUBA1A PAFAH1B1 MACF1
3 neuronal migration disorders 31.6 TUBA1A PAFAH1B1 ADGRG1
4 band heterotopia 31.6 TUBA1A PAFAH1B1 ADGRG1
5 lissencephaly 2 29.8 TUBA1A PAFAH1B1
6 west syndrome 29.7 TUBA1A PAFAH1B1
7 periventricular nodular heterotopia 29.5 TUBA1A PAFAH1B1 ADGRG1
8 walker-warburg syndrome 29.3 TUBA1A PAFAH1B1 ADGRG1
9 pachygyria with mental retardation, seizures, and arachnoid cysts 12.6
10 pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures 12.5
11 pachygyria, frontotemporal 12.4
12 central bilateral macrogyria 12.2
13 agyria pachygyria polymicrogyria 12.2
14 agyria-pachygyria type 1 12.2
15 pachygyria-intellectual disability-epilepsy syndrome 12.2
16 baraitser-winter syndrome 1 12.0
17 cortical malformations, occipital 11.8
18 lissencephaly 1 11.7
19 baraitser-winter syndrome 11.6
20 spondylometaphyseal dysplasia, sedaghatian type 11.6
21 kuzniecky andermann syndrome 11.4
22 galloway-mowat syndrome 1 11.4
23 lissencephaly 3 11.4
24 lissencephaly 9 with complex brainstem malformation 11.3
25 lissencephaly 6 with microcephaly 11.2
26 cortical dysplasia, complex, with other brain malformations 9 11.2
27 winter harding hyde syndrome 11.2
28 aicardi-goutieres syndrome 1 11.1
29 galloway-mowat syndrome 2, x-linked 11.1
30 aicardi syndrome 11.1
31 microcephaly 2, primary, autosomal recessive, with or without cortical malformations 11.1
32 chromosome 2p16.1-p15 deletion syndrome 11.1
33 mental retardation, autosomal recessive 34, with variant lissencephaly 11.1
34 cortical dysplasia, complex, with other brain malformations 3 11.1
35 cortical dysplasia, complex, with other brain malformations 4 11.1
36 lissencephaly 7 with cerebellar hypoplasia 11.1
37 okur-chung neurodevelopmental syndrome 11.1
38 lissencephaly 8 11.1
39 peho-like syndrome 11.1
40 galloway-mowat syndrome 3 11.1
41 galloway-mowat syndrome 4 11.1
42 galloway-mowat syndrome 5 11.1
43 galloway-mowat syndrome 6 11.1
44 galloway-mowat syndrome 7 11.1
45 galloway-mowat syndrome 8 11.1
46 x-linked lissencephaly with abnormal genitalia 11.1
47 microcephaly 10.5
48 polymicrogyria with or without vascular-type ehlers-danlos syndrome 10.5
49 polymicrogyria 10.5
50 hypotonia 10.4

Graphical network of the top 20 diseases related to Pachygyria:



Diseases related to Pachygyria

Symptoms & Phenotypes for Pachygyria

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

Anatomical Context for Pachygyria

MalaCards organs/tissues related to Pachygyria:

40
Brain, Cortex, Eye, Testes, Skeletal Muscle, Pituitary, Bone

Publications for Pachygyria

Articles related to Pachygyria:

(show top 50) (show all 474)
# Title Authors PMID Year
1
Further Insights into Developmental Brain Malformations and Leukoencephalopathy Associated with 6p25.3 Deletion. 61
31634935 2020
2
LONP1 de novo dominant mutation causes mitochondrial encephalopathy with loss of LONP1 chaperone activity and excessive LONP1 proteolytic activity. 61
31923470 2020
3
Schizencephaly accompanied by occipital encephalocele and deletion of chromosome 22q13.32: a case report. 61
31130048 2019
4
Bi-allelic Pathogenic Variants in TUBGCP2 Cause Microcephaly and Lissencephaly Spectrum Disorders. 61
31630790 2019
5
Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay. 61
31585108 2019
6
ISCA1-Related Multiple Mitochondrial Dysfunctions Syndrome 61
31580634 2019
7
Correction: Phenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish population. 61
31506600 2019
8
Phenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish population. 61
30914828 2019
9
Pathogenic E2K mutation of doublecortin X (DCX) alters microtubule stabilisation and actin filament association. 61
30979500 2019
10
Posterior quadrantic dysplasia with localized hemimegalencephaly in a patient with giant congenital melanocytic nevus: First case report. 61
30794039 2019
11
SCN2A mutation in an infant with Ohtahara syndrome and neuroimaging findings: expanding the phenotype of neuronal migration disorders. 61
31204721 2019
12
A novel WDR62 missense mutation in microcephaly with abnormal cortical architecture and review of the literature. 61
30706430 2019
13
The clinical and imaging features of gray matter heterotopia: a clinical analysis on 15 patients. 61
30535564 2019
14
RNA-Seq detects a SAMD12-EXT1 fusion transcript and leads to the discovery of an EXT1 deletion in a child with multiple osteochondromas. 61
30632316 2019
15
Correction to: Congenital pial AVF along the falx cerebri with complete agenesis of the corpus callosum and bilateral parasagittal pachygyria-polymicrogyria secondary to chronic ischemia. 61
30694355 2019
16
Congenital pial AVF along the falx cerebri with complete agenesis of the corpus callosum and bilateral parasagittal pachygyria-polymicrogyria secondary to chronic ischemia. 61
30539296 2019
17
De Novo Mutated TUBB2B Associated Pachygyria Diagnosed by Medical Exome Sequencing and Long-Range PCR. 61
30585108 2019
18
The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy. 61
30744660 2019
19
Updated Imaging Findings in Congenital Zika Syndrome: A Disease Story That is Still Being Written. 61
30817674 2019
20
Doublecortin Mutation in an Adolescent Male. 61
31259193 2019
21
Galloway-Mowat syndrome in Taiwan: OSGEP mutation and unique clinical phenotype. 61
30558655 2018
22
Delineating FOXG1 syndrome: From congenital microcephaly to hyperkinetic encephalopathy. 61
30533527 2018
23
Mutations in TBR1 gene leads to cortical malformations and intellectual disability. 61
30268909 2018
24
Familial dominant epilepsy and mild pachygyria associated with a constitutional LIS1 mutation. 61
30144370 2018
25
Biallelic mutations in RTTN are associated with microcephaly, short stature and a wide range of brain malformations. 61
29883675 2018
26
Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly. 61
29671837 2018
27
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. 61
30537274 2018
28
WDR62 mediates TNFα-dependent JNK activation via TRAF2-MLK3 axis. 61
30091641 2018
29
A case of tubulinopathy presenting with porencephaly caused by a novel missense mutation in the TUBA1A gene. 61
29907476 2018
30
Tubulinopathies continued: refining the phenotypic spectrum associated with variants in TUBG1. 61
29706637 2018
31
Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration. 61
30013181 2018
32
Neuroimaging findings associated with congenital Zika virus syndrome: case series at the time of first epidemic outbreak in Pernambuco State, Brazil. 61
29209885 2018
33
Ciliogenesis and cell cycle alterations contribute to KIF2A-related malformations of cortical development. 61
29077851 2018
34
The central diabetes insipidus associated with septo-optic dysplasia (de Morsier syndrome). 61
30963758 2018
35
A novel mutation in LAMC3 associated with generalized polymicrogyria of the cortex and epilepsy. 61
29247375 2018
36
Mutations of KIF5C cause a neurodevelopmental disorder of infantile-onset epilepsy, absent language, and distinctive malformations of cortical development. 61
29048727 2017
37
Neuroimaging Findings of Congenital Toxoplasmosis, Cytomegalovirus, and Zika Virus Infections: A Comparison of Three Cases. 61
28780216 2017
38
Epileptogenic Brain Malformations and Mutations in Tubulin Genes: A Case Report and Review of the Literature. 61
29109381 2017
39
De novo mutation in DEPDC5 associated with unilateral pachygyria and intractable epilepsy. 61
28549235 2017
40
A Practical Approach to Supratentorial Brain Malformations: What Radiologists Should Know. 61
28601171 2017
41
Nonmicrocephalic Infants with Congenital Zika Syndrome Suspected Only after Neuroimaging Evaluation Compared with Those with Microcephaly at Birth and Postnatally: How Large Is the Zika Virus "Iceberg"? 61
28522665 2017
42
Baraitser-Winter cerebrofrontofacial syndrome. 61
27625340 2017
43
Lissencephaly: Expanded imaging and clinical classification. 61
28440899 2017
44
TUBB2B Mutation in an Adult Patient with Myoclonus-Dystonia. 61
28966590 2017
45
Unusual association of SCN2A epileptic encephalopathy with severe cortical dysplasia detected by prenatal MRI. 61
28254201 2017
46
A case report on dental management of a toddler with Pachygyria. 61
28512554 2017
47
Lissencephaly-pachygyria Masquerading as Leukodystrophy on Magnetic Resonance Imaging Brain. 61
28904573 2017
48
Neuroimaging findings of congenital Zika virus infection: a pictorial essay. 61
28074379 2017
49
Zika Virus-Associated Micrencephaly: A Thorough Description of Neuropathologic Findings in the Fetal Central Nervous System. 61
27726416 2017
50
Distinct Features of Doublecortin as a Marker of Neuronal Migration and Its Implications in Cancer Cell Mobility. 61
28701917 2017

Variations for Pachygyria

ClinVar genetic disease variations for Pachygyria:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ADGRG1 NM_201525.4(ADGRG1):c.1583dup (p.Ala529fs)duplication Pathogenic 544681 rs1567815105 16:57694706-57694707 16:57660794-57660795
2 DYNC1H1 NM_001376.5(DYNC1H1):c.9930G>A (p.Met3310Ile)SNV Uncertain significance 523440 rs1555411304 14:102498655-102498655 14:102032318-102032318

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:

# Super pathways Score Top Affiliating Genes
1 11.29 TUBA1A PAFAH1B1 CCDC88A

GO Terms for Pachygyria

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

# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.55 TUBGCP2 TUBA1A PAFAH1B1 MACF1 CCDC88A
2 centrosome GO:0005813 9.5 TUBGCP2 PAFAH1B1 CCDC88A
3 cell leading edge GO:0031252 9.26 PAFAH1B1 CCDC88A
4 microtubule GO:0005874 9.26 TUBGCP2 TUBA1A PAFAH1B1 MACF1
5 cytoplasmic microtubule GO:0005881 8.8 TUBGCP2 TUBA1A PAFAH1B1

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 nervous system development GO:0007399 9.61 PAFAH1B1 CCDC88A ADGRG1
2 mitotic cell cycle GO:0000278 9.51 TUBGCP2 TUBA1A
3 G2/M transition of mitotic cell cycle GO:0000086 9.49 TUBA1A PAFAH1B1
4 microtubule cytoskeleton organization GO:0000226 9.48 TUBA1A PAFAH1B1
5 ciliary basal body-plasma membrane docking GO:0097711 9.46 TUBA1A PAFAH1B1
6 regulation of G2/M transition of mitotic cell cycle GO:0010389 9.4 TUBA1A PAFAH1B1
7 cytoplasmic microtubule organization GO:0031122 9.37 TUBGCP2 CCDC88A
8 cell migration GO:0016477 9.33 PAFAH1B1 CCDC88A ADGRG1
9 microtubule-based process GO:0007017 9.32 TUBA1A PAFAH1B1
10 positive regulation of axon extension GO:0045773 9.26 PAFAH1B1 MACF1
11 cytoskeleton-dependent intracellular transport GO:0030705 8.96 TUBA1A CCDC88A
12 layer formation in cerebral cortex GO:0021819 8.62 PAFAH1B1 ADGRG1

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

# Name GO ID Score Top Affiliating Genes
1 microtubule binding GO:0008017 9.13 PAFAH1B1 MACF1 CCDC88A
2 microtubule minus-end binding GO:0051011 8.62 TUBGCP2 MACF1

Sources for Pachygyria

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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