MCID: PCH002
MIFTS: 36

Pachygyria malady

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Pachygyria

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Aliases & Descriptions for Pachygyria:

Name: Pachygyria 47 24 26 67
Macrogyria 47 26
 
Large Gyri of Cerebrum 47
Broad Gyri of Cerebrum 47

Classifications:



Summaries for Pachygyria

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Wikipedia:70 Pachygyria (from the Greek \"pachy\" meaning \"thick\" or \"fat\" gyri) is a congenital malformation of... more...

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 are Neuroscience and Reelin signaling pathway. Affiliated tissues include cortex and brain, and related mouse phenotype nervous system.

Related Diseases for Pachygyria

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

(show top 50)    (show all 68)
idRelated DiseaseScoreTop Affiliating Genes
1pachygyria with mental retardation, seizures, and arachnoid cysts12.1
2pachygyria, frontotemporal11.9
3macrogyria, pseudobulbar palsy and mental retardation11.8
4central bilateral macrogyria11.8
5agyria pachygyria polymicrogyria11.7
6agyria-pachygyria type 111.7
7cortical malformations, occipital11.4
8baraitser-winter syndrome 111.3
9lissencephaly11.1
10neuronal migration disorders11.0
11lissencephaly 110.9
12lissencephaly 6, with microcephaly10.8
13winter harding hyde syndrome10.8
14microcephaly, cortical malformations, and mental retardation10.8
15cortical dysplasia, complex, with other brain malformations 310.7
16lissencephaly 7 with cerebellar hypoplasia10.7
17lissencephaly 310.7
18miller-dieker lissencephaly syndrome10.7
19cortical dysplasia, complex, with other brain malformations 410.7
20microcephaly 2, primary, autosomal recessive, with or without cortical malformations10.7
21spondylometaphyseal dysplasia, sedaghatian type10.7
22isolated 17-linked lissencephaly10.7
23okur-chung neurodevelopmental syndrome10.7
24dfnx1 nonsyndromic hearing loss and deafness10.4DCX, PAFAH1B1
25noonan syndrome 1010.3DCX, PAFAH1B1
26mental retardation, x-linked, syndromic 1510.3DCX, PAFAH1B1
27amyotrophic lateral sclerosis 1810.2PAFAH1B1, TUBA1A
28coloboma, ocular10.1DCX, PAFAH1B1
29epilepsy10.0
30early-onset glaucoma10.0TUBA1A, TUBA1B
31polymicrogyria10.0
32microcephaly9.9
33epilepsy, familial temporal lobe, 79.9PAFAH1B1, RELN
34premature ovarian failure 89.9PAFAH1B1, RELN
35cerebellar hypoplasia9.9
36neuronitis9.9
37usher syndrome type ii9.9TUBA1A, TUBB2B, TUBG1
38arachnoiditis9.8
39arachnoid cysts9.8
40subcortical band heterotopia9.8
41hypotonia9.8
42band heterotopia9.8
43retinitis pigmentosa 139.7DCX, PAFAH1B1, RELN
44o'sullivan-mcleod syndrome9.7DCX, PAFAH1B1, RELN
45weaver syndrome9.6
46hydrocephalus9.6
47lennox-gastaut syndrome9.6
48baraitser-winter syndrome9.6
49congenital myopathy9.6
50myopia9.6

Graphical network of the top 20 diseases related to Pachygyria:



Diseases related to pachygyria

Symptoms for Pachygyria

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Drugs & Therapeutics for Pachygyria

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Pachygyria

Genetic Tests for Pachygyria

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Genetic tests related to Pachygyria:

id Genetic test Affiliating Genes
1 Pachygyria26 24
2 Macrogyria26

Anatomical Context for Pachygyria

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MalaCards organs/tissues related to Pachygyria:

35
Cortex, Brain

Animal Models for Pachygyria or affiliated genes

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MGI Mouse Phenotypes related to Pachygyria:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00036316.4CDK5, DCX, KATNB1, KIF2A, LAMC3, PAFAH1B1

Publications for Pachygyria

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Articles related to Pachygyria:

(show top 50)    (show all 91)
idTitleAuthorsYear
1
De Novo TUBB2A Variant Presenting With Anterior Temporal Pachygyria. (27770045)
2016
2
Familial pachygyria in both genders related to a DCX mutation. (26743950)
2016
3
Reverse Tigroid" Pattern in Pachygyria: A Novel Finding. (27195181)
2016
4
Recurrent KIF5C mutation leading to frontal pachygyria without microcephaly. (26384676)
2015
5
Demonstration of different histological layers of the pachygyria/agyria cortex using diffusion tensor MR imaging. (23262553)
2013
6
Hot water epilepsy with pachygyria. (21932090)
2012
7
Frontotemporal pachygyria-two new patients. (23022981)
2012
8
Symmetric polymicrogyria and pachygyria associated with TUBB2B gene mutations. (22333901)
2012
9
Evaluation of white matter changes in agyria-pachygyria complex using diffusion tensor imaging. (20929906)
2011
10
Familial Lennox-Gastaut syndrome in male siblings with a novel DCX mutation and anterior pachygyria. (20726879)
2010
11
Infantile spasms associated with lissencephaly pachygyria in a female twin. (20508363)
2010
12
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
13
Duane retraction syndrome, nystagmus, retinal pigment epitheliopathy and epiretinal membrane with micro- and pachygyria, developmental delay, hearing loss and craniopharyngioma. (19172504)
2009
14
A case of isolated pachygyria with unusual clinical onset in the neonatal period. (19216204)
2008
15
A pachygyria-causing alpha-tubulin mutation results in inefficient cycling with CCT and a deficient interaction with TBCB. (18199681)
2008
16
Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A). (17584854)
2007
17
A new lethal case of joint contractures, facial abnormalities, pachygyria plus early-onset encephalopathy with a suppression-burst EEG pattern. (17412623)
2007
18
Pachygyria in a neonate with trisomy 21. (17356314)
2007
19
Sedaghatian spondylometaphyseal dysplasia with pachygyria and absence of the corpus callosum. (16892303)
2006
20
Pachygyria in a girl with microcephalic osteodysplastic primordial short stature type II. (15737708)
2005
21
Re: polymicrogyria versus pachygyria in 22q11 microdeletion. (16001437)
2005
22
Pachygyria and cerebellar hypoplasia in a patient with a 2q22-q23 deletion that includes the ZFHX1B gene. (15103730)
2004
23
Chromosome 22q11 deletion and pachygyria characterized by array-based comparative genomic hybridization. (15523606)
2004
24
Agyria-pachygyria complex: MR findings and correlation with clinical features. (14738944)
2004
25
Pachygyria and cerebellar hypoplasia in Goldberg-Shprintzen syndrome. (12687674)
2003
26
Bilateral posterior agyria-pachygyria and epilepsy. (12581809)
2003
27
Agyria-pachygyria: clinical, neuroimaging, and neurophysiologic correlations. (12393126)
2002
28
Asymmetric arthrogryposis multiplex congenita with focal pachygyria. (11587882)
2001
29
Congenital cytomegalovirus infection: a retrospective diagnosis in a child with pachygyria. (10913736)
2000
30
Diffuse pachygyria with cerebellar hypoplasia: a milder form of microlissencephaly or a new genetic syndrome? (10514106)
1999
31
Pachygyria in Weaver syndrome. (10494098)
1999
32
Pachygyria/hypogenitalism: A monogenic syndrome. (10564880)
1999
33
Familial neuronal migration disorder: subcortical laminar heterotopia in a mother and pachygyria in the son. (9489790)
1998
34
Pachygyria associated with childhood-onset epileptic spasms. (9733294)
1998
35
Brain functional imaging SPECT in agyria-pachygyria. (8796359)
1996
36
Non-ketotic hyperglycinaemia presenting as pachygyria. (8750602)
1995
37
X-linked pachygyria and agenesis of the corpus callosum: evidence for an X chromosome lissencephaly locus. (8053659)
1994
38
Serial EEG and sleep polygraphic studies on lissencephaly (agyria-pachygyria). (7892955)
1994
39
Pachygyria in a neonate with prenatal cocaine exposure: MR features. (8040452)
1994
40
An additional case of pachygyria, joint contractures and facial abnormalities. (8305968)
1993
41
New XLMR syndrome with characteristic face, hypogenitalism, congenital hypotonia and pachygyria. (1605225)
1992
42
Pachygyria: CT findings. (1566695)
1992
43
A case with athetosis, mental retardation, deafness, and pachygyria. (1785663)
1991
44
The MR evaluation of pachygyria and associated syndromes. (1999213)
1991
45
Focal pachygyria with unusual vascular anomaly. (2215909)
1990
46
Pachygyria, joint contractures, and facial abnormalities: a new lethal syndrome. (2213849)
1990
47
Lissencephaly and pachygyria. (2736411)
1989
48
Agyria--pachygyria and Miller-Dieker syndrome: clinical, genetic and chromosome studies. (3391613)
1988
49
Fine structure based on the Golgi method of the abnormal cortex and heterotopic nodules in pachygyria. (6486379)
1984
50
Pachygyria: relation of findings to modern embryologic concepts. (5692340)
1968

Variations for Pachygyria

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Expression for genes affiliated with Pachygyria

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Search GEO for disease gene expression data for Pachygyria.

Pathways for genes affiliated with Pachygyria

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Pathways related to Pachygyria according to GeneCards Suite gene sharing:

(show all 14)
idSuper pathwaysScoreTop Affiliating Genes
19.1CDK5, DCX, PAFAH1B1, TUBA1B
29.0CDK5, PAFAH1B1, RELN
3
Show member pathways
9.0TUBA1A, TUBA1B, TUBB2B
4
Show member pathways
9.0TUBA1A, TUBA1B, TUBB2B
5
Show member pathways
9.0TUBA1A, TUBA1B, TUBB2B
69.0TUBA1A, TUBA1B, TUBB2B
7
Show member pathways
9.0TUBA1A, TUBA1B, TUBB2B
89.0TUBA1A, TUBA1B, TUBB2B
9
Show member pathways
9.0TUBA1A, TUBA1B, TUBB2B
108.8CDK5, KIF2A, RELN
118.8DCX, PAFAH1B1, TUBA1A, TUBA1B, TUBG1
128.8CDK5, DCX, PAFAH1B1, RELN
13
Show member pathways
8.7CDK5, TUBA1A, TUBA1B, TUBB2B
14
Show member pathways
8.4CDK5, TUBA1A, TUBA1B, TUBB2B, TUBG1

GO Terms for genes affiliated with Pachygyria

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

idNameGO IDScoreTop Affiliating Genes
1microtubule associated complexGO:000587510.3DCX, PAFAH1B1
2cell leading edgeGO:003125210.2PAFAH1B1, TUBG1
3spindle microtubuleGO:000587610.1KIF2A, TUBG1
4cytoplasmic microtubuleGO:00058819.8TUBA1A, TUBA1B, TUBG1
5spindle poleGO:00009229.5KATNB1, KIF2A, WDR62
6growth coneGO:00304269.4CDK5, KATNB1, PAFAH1B1
7centrosomeGO:00058138.6KATNB1, KIF2A, PAFAH1B1, TUBG1, WDR62
8microtubuleGO:00058748.2DCX, KATNB1, TUBA1A, TUBA1B, TUBB2B

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

(show all 18)
idNameGO IDScoreTop Affiliating Genes
1cytoskeleton-dependent intracellular transportGO:003070510.3TUBA1A, TUBA1B
2axon extensionGO:004867510.2CDK5, DCX
3dendrite morphogenesisGO:004881310.2CDK5, DCX
4mitotic spindle organizationGO:000705210.0KIF2A, WDR62
5positive regulation of dendritic spine morphogenesisGO:00610039.9PAFAH1B1, RELN
6G2/M transition of mitotic cell cycleGO:00000869.8PAFAH1B1, TUBA1A, TUBG1
7protein localization to synapseGO:00354189.6CDK5, RELN
8cell morphogenesis involved in differentiationGO:00009049.6LAMC3, RELN
9microtubule cytoskeleton organizationGO:00002269.5PAFAH1B1, TUBA1B, TUBG1
10associative learningGO:00083069.3CDK5, RELN
11cell migrationGO:00164779.3CDK5, PAFAH1B1, RELN
12cerebral cortex developmentGO:00219879.1CDK5, PAFAH1B1, RELN, WDR62
13layer formation in cerebral cortexGO:00218199.1CDK5, DCX, PAFAH1B1, RELN
14brain developmentGO:00074209.1DCX, PAFAH1B1, RELN
15microtubule-based processGO:00070178.9PAFAH1B1, TUBA1A, TUBA1B, TUBB2B
16hippocampus developmentGO:00217668.7CDK5, DCX, PAFAH1B1, RELN
17cell divisionGO:00513018.5CDK5, KATNB1, KIF2A, TUBA1A, TUBA1B
18neuron migrationGO:00017648.2CDK5, DCX, PAFAH1B1, RELN, TUBB2B

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

idNameGO IDScoreTop Affiliating Genes
1dynein bindingGO:004550210.1KATNB1, PAFAH1B1
2structural molecule activityGO:00051989.7LAMC3, TUBA1A, TUBA1B
3microtubule bindingGO:00080178.9DCX, KATNB1, KIF2A, PAFAH1B1
4structural constituent of cytoskeletonGO:00052008.9TUBA1A, TUBA1B, TUBB2B, TUBG1
5GTPase activityGO:00039248.8TUBA1A, TUBA1B, TUBB2B, TUBG1
6GTP bindingGO:00055258.4TUBA1A, TUBA1B, TUBB2B, TUBG1

Sources for Pachygyria

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet