MCID: PCH002
MIFTS: 37

Pachygyria malady

Summaries for Pachygyria

Sources:
43NIH Rare Diseases, 64Wikipedia, 33MalaCards
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NIH Rare Diseases:43 Pachygyria is a rare developmental disorder which results from abnormal migration of neurons in the developing brain and nervous system.  in pachygyria, the gyri are relatively few and are unusually broad and flat. the condition does not affect the entire brain, and is also known as ‘incomplete lissencephaly.’ symptoms are variable, but may include seizures, developmental delay, growth failure, small head size, feeding issues and poor muscle control. most cases are isolated, although autosomal dominant and recessive forms have been described. treatment is symptomatic and supportive. last updated: 8/18/2009

MalaCards: Pachygyria, also known as macrogyria, is related to lissencephaly and lissencephaly 1. An important gene associated with Pachygyria is WDR62 (WD repeat domain 62), and among its related pathways are Lissencephaly gene (LIS1) in neuronal migration and development and wtCFTR and deltaF508 traffic / Membrane expression (norm and CF). The compounds vinblastine and Epothilone D have been mentioned in the context of this disorder. Affiliated tissues include brain and cortex.

Wikipedia:64 Pachygyria (from the Greek \"pachy\" meaning \"thick\" or \"fat\" gyri) is a congenital malformation of... more...

Aliases & Classifications for Pachygyria

Sources:
43NIH Rare Diseases, 20GeneTests, 61UMLS, 22GTR
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Aliases & Descriptions:

pachygyria 43 20 61
macrogyria 43 22
large gyri of cerebrum 43
broad gyri of cerebrum 43


Related Diseases for Pachygyria

Sources:
17GeneCards, 18GeneDecks
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Diseases in the Pachygyria family:

pachygyria with mental retardation and seizures

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

(show top 50)    (show all 113)
idRelated DiseaseScoreTop Affiliating Genes
1lissencephaly30.6PAFAH1B1, TUBA1A, TUBB2B, DCX
2lissencephaly 130.2DCX, PAFAH1B1
3cerebellar hypoplasia30.2DCX, PAFAH1B1
4microcephaly30.0WDR62, PAFAH1B1
5pachygyria, frontotemporal10.3
6polymicrogyria10.3
7agyria pachygyria polymicrogyria10.2
8pachygyria - intellectual deficit - epilepsy10.2
9corpus callosum agenesis10.1
10agyria-pachygyria type 110.1
11pachygyria with mental retardation and seizures10.1
12mental retardation10.1
13pachygyria - epilepsy - intellectual deficit - dysmorphism10.1
14macrogyria, pseudobulbar palsy and mental retardation10.1
15central bilateral macrogyria10.1
16n syndrome10.1
17micro syndrome10.1
18char syndrome10.1
19arachnoid cysts10.1
20subcortical band heterotopia10.1
21miller-dieker syndrome10.1
22cortical malformations, occipital10.1
23thanatophoric dysplasia type 110.0
24lissencephaly x-linked10.0PAFAH1B1, DCX
25periventricular nodular heterotopia10.0DCX, PAFAH1B1
26developmental disabilities10.0DCX, PAFAH1B1
27focal epilepsy10.0DCX, PAFAH1B1
28cutis laxa9.9
29weaver syndrome9.9
30tuberous sclerosis9.9
31frontal lobe epilepsy9.9
32lennox-gastaut syndrome9.9
33duane retraction syndrome9.9
34fryns syndrome9.9
35shprintzen-goldberg syndrome9.9
36athetosis9.9
37baraitser-winter syndrome9.9
38myopathy congenital9.9
39chromosome 22q deletion9.9
40congenital cytomegalovirus9.9
41partial lissencephaly9.9
42winter harding hyde syndrome9.9
43microlissencephaly9.9
44periventricular heterotopia9.9
45cytomegalovirus infection9.9
46hypotonia9.9
47neuronal migration disorders9.9
48short stature9.9
49subcortical laminar heterotopia9.9
50nephrosis9.9

Graphical network of the top 20 diseases related to Pachygyria:



Diseases related to pachygyria

Clinical Features for Pachygyria

Drugs & Therapeutics for Pachygyria

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Pachygyria

Drug clinical trials:

Search ClinicalTrials for Pachygyria

Search NIH Clinical Center for Pachygyria

Search CenterWatch for Pachygyria

Genetic Tests for Pachygyria

Sources:
20GeneTests, 22GTR
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Genetic tests related to Pachygyria:

id Genetic test Affiliating Genes
1 Pachygyria20
2 Macrogyria22

Anatomical Context for Pachygyria

Sources:
33MalaCards
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MalaCards organs/tissues related to Pachygyria:

33
Brain, Cortex

Animal Models for Pachygyria or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Pachygyria

Sources:
51PubMed
See all sources

Articles related to Pachygyria:

(show top 50)    (show all 84)
idTitleAuthorsYear
1
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
2
Epileptogenic pachygyria demonstrating on FDG PET. (22157055)
2012
3
Hot water epilepsy with pachygyria. (21932090)
2012
4
Novel VLDLR microdeletion identified in two Turkish siblings with pachygyria and pontocerebellar atrophy. (20082205)
2010
5
Infantile spasms associated with lissencephaly pachygyria in a female twin. (20508363)
2010
6
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
7
A case of Baraitser-Winter syndrome with unusual brain MRI findings: pachygyria, subcortical-band heterotopia, and periventricular heterotopia. (19477093)
2010
8
Duane retraction syndrome, nystagmus, retinal pigment epitheliopathy and epiretinal membrane with micro- and pachygyria, developmental delay, hearing loss and craniopharyngioma. (19172504)
2009
9
The syndrome of pachygyria, mental retardation, and arachnoid cysts maps to 11p15. (19876906)
2009
10
A case of isolated pachygyria with unusual clinical onset in the neonatal period. (19216204)
2008
11
A new autosomal recessive disorder of bilateral frontotemporal pachygyria without microcephaly: report of a case and review of literature. (17272902)
2007
12
A rare case of epilepsy in a 16-year-old girl with fallot tetralogy attributed to CNS heterotopia and pachygyria. (17431068)
2007
13
A new lethal case of joint contractures, facial abnormalities, pachygyria plus early-onset encephalopathy with a suppression-burst EEG pattern. (17412623)
2007
14
High myopia and congenital myopathy with partial pachygyria in cutis laxa syndrome. (16496270)
2006
15
Sedaghatian spondylometaphyseal dysplasia with pachygyria and absence of the corpus callosum. (16892303)
2006
16
Extreme microcephaly with agyria-pachygyria, partial agenesis of the corpus callosum, and pontocerebellar dysplasia. (15794192)
2005
17
Pachygyria in a girl with microcephalic osteodysplastic primordial short stature type II. (15737708)
2005
18
MRI supported diagnosis and counselling in a family with a probably autosomal recessive form of pachygyria. (16240462)
2005
19
Pachygyria and cerebellar hypoplasia in a patient with a 2q22-q23 deletion that includes the ZFHX1B gene. (15103730)
2004
20
Autosomal recessive frontotemporal pachygyria. (14708094)
2004
21
Chromosome 22q11 deletion and pachygyria characterized by array-based comparative genomic hybridization. (15523606)
2004
22
Agyria-pachygyria complex: MR findings and correlation with clinical features. (14738944)
2004
23
Agyria-pachygyria: clinical, neuroimaging, and neurophysiologic correlations. (12393126)
2002
24
Localization-related epilepsy mimicking epilepsy with myoclonic absence in a patient with pachygyria. (11896877)
2002
25
What's your diagnosis? Heterotopic gray matter (HGM) in the left centrum semiovale with associated pachygyria presenting with a late-onset seizure. (17264552)
2001
26
Asymmetric arthrogryposis multiplex congenita with focal pachygyria. (11587882)
2001
27
Clinical features of 21 patients with lissencephaly type I (agyria-pachygyria). (11105619)
2000
28
Congenital cytomegalovirus infection: a retrospective diagnosis in a child with pachygyria. (10913736)
2000
29
Pachygyria in Weaver syndrome. (10494098)
1999
30
Familial neuronal migration disorder: subcortical laminar heterotopia in a mother and pachygyria in the son. (9489790)
1998
31
Pachygyria associated with childhood-onset epileptic spasms. (9733294)
1998
32
Recurrent seizures due to pachygyria. (10216703)
1998
33
The pachygyria-polymicrogyria spectrum of cortical dysplasia in X-linked hydrocephalus. (9926316)
1998
34
Agyria-pachygyria: cerebral perfusion studies by 99mTc-HMPAO SPECT [corrected]. (9105662)
1997
35
A new autosomal recessive syndrome of pachygyria. (9147882)
1996
36
X-linked pachygyria and agenesis of the corpus callosum: evidence for an X chromosome lissencephaly locus. (8053659)
1994
37
Serial EEG and sleep polygraphic studies on lissencephaly (agyria-pachygyria). (7892955)
1994
38
Pachygyria in a neonate with prenatal cocaine exposure: MR features. (8040452)
1994
39
Tuberous sclerosis associated with pachygyria. CT findings. (8255663)
1993
40
Biological rhythms in patients with lissencephaly (agyria-pachygyria). (8214346)
1993
41
Pachygyria: CT findings. (1566695)
1992
42
The MR evaluation of pachygyria and associated syndromes. (1999213)
1991
43
Infantile spasm induced by hemispheric pachygyria ultrasound, MRIand Tc-99m HMPAO SPECT. (1891268)
1991
44
Focal pachygyria with unusual vascular anomaly. (2215909)
1990
45
Unknown syndrome: pachygyria, joint contractures, and facial abnormalities. (2614803)
1989
46
Lissencephaly and pachygyria. (2736411)
1989
47
Agyria--pachygyria and Miller-Dieker syndrome: clinical, genetic and chromosome studies. (3391613)
1988
48
Lissencephaly (agyria-pachygyria): clinical findings and serial EEG studies. (2438181)
1987
49
Pachygyria and congenital nephrosis disorder of migration and neuronal orientation. (6880614)
1983
50
Pachygyria: relation of findings to modern embryologic concepts. (5692340)
1968

Genetic Variations for Pachygyria

Expression for genes affiliated with Pachygyria

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Pachygyria

Search GEO for disease gene expression data for Pachygyria.

Pathways for genes affiliated with Pachygyria

Sources:
38NCBI BioSystems Database, 12EMD Millipore, 54Reactome, 30KEGG, 52QIAGEN, 4Cell Signaling Technology
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Pathways related to Pachygyria according to GeneCards/GeneDecks:

(show all 27)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.2PAFAH1B1, DCX
2
wtCFTR and deltaF508 traffic / Membrane expression (norm and CF)
9.0TUBB2B, TUBA1A, TUBA1B
3
Hide members
9.0TUBA1B, TUBA1A, TUBB2B
4
Cell cycle Spindle assembly and chromosome separation
Hide members
9.0TUBB2B, TUBA1A, TUBA1B
5
Hide members
9.0TUBB2B, TUBA1A, TUBA1B
6
Cytoskeleton remodeling Reverse signaling by ephrin B
Hide members
9.0TUBA1B, TUBA1A, TUBB2B
79.0TUBA1B, TUBA1A, TUBB2B
8
Hide members
9.0TUBB2B, TUBA1A, TUBA1B
9
Hide members
9.0TUBA1B, TUBA1A, TUBB2B
10
Hide members
9.0TUBB2B, TUBA1A, TUBA1B
11
Development Slit-Robo signaling
Hide members
9.0TUBA1B, TUBA1A, TUBB2B
129.0TUBB2B, TUBA1A, TUBA1B
139.0TUBB2B, TUBA1A, TUBA1B
149.0TUBA1B, TUBA1A, TUBB2B
15
Hide members
9.0TUBB2B, TUBA1A, TUBA1B
16
Hide members
9.0TUBA1B, TUBA1A, TUBB2B
17
Hide members
9.0TUBB2B, TUBA1A, TUBA1B
18
Hide members
9.0TUBA1B, TUBA1A, TUBB2B
19
Hide members
9.0TUBB2B, TUBA1A, TUBA1B
20
Cell adhesion Gap junctions
Hide members
9.0TUBA1B, TUBA1A, TUBB2B
218.7PAFAH1B1, DCX, TUBA1B
22
Hide members
8.6DCX, TUBB2B, TUBA1A, TUBA1B
238.3TUBA1B, TUBA1A, DCX, PAFAH1B1
24
Hide members
8.2TUBA1B, TUBA1A, TUBB2B, PAFAH1B1
25
Hide members
8.2TUBA1B, TUBA1A, TUBB2B, PAFAH1B1
26
Hide members
8.2PAFAH1B1, TUBB2B, TUBA1A, TUBA1B
27
Hide members
8.2PAFAH1B1, TUBB2B, TUBA1A, TUBA1B

Compounds for genes affiliated with Pachygyria

Sources:
45Novoseek, 50PharmGKB, 11DrugBank, 60Tocris Bioscience, 2BitterDB, 29IUPHAR
See all sources

Compounds related to Pachygyria according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1vinblastine45 50 1111.5TUBA1B, TUBA1A
2Epothilone D119.4TUBA1A, TUBA1B
32-MERCAPTO-N-[1,2,3,10-TETRAMETHOXY-9-OXO-5,6,7,9-TETRAHYDRO-BENZO[A]HEPTALEN-7-YL]ACETAMIDE119.2TUBA1B, TUBA1A, TUBB2B
4vinorelbine ditartrate609.2TUBB2B, TUBA1A, TUBA1B
5vinblastine sulfate609.1TUBA1B, TUBA1A, TUBB2B
6epothilone b60 45 1111.1TUBA1A, TUBA1B, TUBB2B
7colchicine60 45 2 29 1113.0TUBA1B, TUBB2B, TUBA1A
8docetaxel45 50 60 1111.7TUBA1B, TUBA1A, TUBB2B

GO Terms for genes affiliated with Pachygyria

Sources:
16Gene Ontology
See all sources

Cellular components related to Pachygyria according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytoplasmic microtubuleGO:0058819.5TUBA1A, TUBA1B
2microtubule cytoskeletonGO:0156308.9TUBA1B, TUBA1A, TUBB2B
3microtubule associated complexGO:0058758.9PAFAH1B1, DCX
4microtubuleGO:0058748.6DCX, TUBB2B, TUBA1A, TUBA1B

Biological processes related to Pachygyria according to GeneCards/GeneDecks:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1cytoskeleton-dependent intracellular transportGO:0307059.7TUBA1A, TUBA1B
2protein polymerizationGO:0512589.2TUBB2B, TUBA1B, TUBA1A
3cerebral cortex developmentGO:0219879.2WDR62, PAFAH1B1
4de novo posttranslational protein foldingGO:0510849.2TUBA1A, TUBA1B, TUBB2B
5protein foldingGO:0064579.0TUBB2B, TUBA1B, TUBA1A
6cellular protein metabolic processGO:0442679.0TUBA1B, TUBA1A, TUBB2B
7microtubule cytoskeleton organizationGO:0002268.8TUBA1B, PAFAH1B1
8neuron migrationGO:0017648.7DCX, PAFAH1B1, TUBB2B
9microtubule-based processGO:0070178.4TUBB2B, TUBA1B, TUBA1A, PAFAH1B1

Molecular functions related to Pachygyria according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1structural constituent of cytoskeletonGO:0052009.0TUBB2B, TUBA1A, TUBA1B
2GTP bindingGO:0055259.0TUBB2B, TUBA1A, TUBA1B
3structural molecule activityGO:0051988.8LAMC3, TUBA1A, TUBA1B
4GTPase activityGO:0039248.7TUBA1B, TUBA1A, TUBB2B

Products for genes affiliated with Pachygyria

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Sources for Pachygyria

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet