MCID: PCH002
MIFTS: 39

Pachygyria malady

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Pachygyria

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Aliases & Descriptions for Pachygyria:

Name: Pachygyria 46 23 25 66
Macrogyria 46 25
 
Broad Gyri of Cerebrum 46
Large Gyri of Cerebrum 46

Classifications:



Summaries for Pachygyria

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NIH Rare Diseases:46 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 TUBA1A (Tubulin Alpha 1a), and among its related pathways are Regulation of CFTR activity (norm and CF) and Phagosome. Affiliated tissues include brain and cortex, and related mouse phenotype nervous system.

Wikipedia:69 Pachygyria (from the Greek \"pachy\" meaning \"thick\" or \"fat\" gyri) is a congenital malformation of... more...

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 72)
idRelated DiseaseScoreTop Affiliating Genes
1pachygyria with mental retardation, seizures, and arachnoid cysts12.1
2pachygyria, frontotemporal12.0
3macrogyria, pseudobulbar palsy and mental retardation12.0
4central bilateral macrogyria11.9
5agyria pachygyria polymicrogyria11.9
6agyria-pachygyria type 111.9
7cortical malformations, occipital11.2
8baraitser-winter syndrome 111.2
9partial lissencephaly10.9
10winter harding hyde syndrome10.9
11microcephaly, cortical malformations, and mental retardation10.9
12lissencephaly10.7
13dfnx1 nonsyndromic hearing loss and deafness10.5DCX, PAFAH1B1
14neuronal migration disorders10.5
15noonan syndrome 1010.4DCX, PAFAH1B1
16mental retardation, x-linked, syndromic 1510.3DCX, PAFAH1B1
17amyotrophic lateral sclerosis 1810.3PAFAH1B1, TUBA1A
18epilepsy, familial temporal lobe, 710.2PAFAH1B1, RELN
19antley-bixler syndrome10.2DCX, PAFAH1B1, TUBA1A
20premature ovarian failure 810.2PAFAH1B1, RELN
21coloboma, ocular10.2DCX, PAFAH1B1
22epilepsy10.1
23polymicrogyria10.1
24lissencephaly 110.1
25microcephaly10.0
26retinitis pigmentosa 1310.0DCX, PAFAH1B1, RELN
27cerebellar hypoplasia10.0
28neuronitis10.0
29o'sullivan-mcleod syndrome10.0DCX, PAFAH1B1, RELN
30lissencephaly 6, with microcephaly10.0
31mckusick type metaphyseal dysplasia10.0DCX, PAFAH1B1, TUBA1A, WDR62
32arachnoiditis9.9
33arachnoid cysts9.9
34subcortical band heterotopia9.9
35hypotonia9.9
36usher syndrome type ii9.9TUBA1A, TUBB2B, TUBG1
37cortical dysplasia, complex, with other brain malformations 39.8
38lissencephaly 7 with cerebellar hypoplasia9.8
39lissencephaly 39.8
40miller-dieker lissencephaly syndrome9.8
41cortical dysplasia, complex, with other brain malformations 49.8
42microcephaly 2, primary, autosomal recessive, with or without cortical malformations9.8
43spondylometaphyseal dysplasia, sedaghatian type9.8
44isolated 17-linked lissencephaly9.8
45early-onset glaucoma9.8TUBA1A, TUBA1B
46fibuloulnar aplasia or hypoplasia with renal abnormalities9.8PAFAH1B1, RELN
47weaver syndrome9.7
48hydrocephalus9.7
49lennox-gastaut syndrome9.7
50baraitser-winter syndrome9.7

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 Pachygyria25 23
2 Macrogyria25

Anatomical Context for Pachygyria

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MalaCards organs/tissues related to Pachygyria:

34
Brain, Cortex

Animal Models for Pachygyria or affiliated genes

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MGI Mouse Phenotypes related to Pachygyria:

39
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 90)
idTitleAuthorsYear
1
Familial pachygyria in both genders related to a DCX mutation. (26743950)
2016
2
"Reverse Tigroid" Pattern in Pachygyria: A Novel Finding. (27195181)
2016
3
Recurrent KIF5C mutation leading to frontal pachygyria without microcephaly. (26384676)
2015
4
Pachygyria Presented as Mania. (26702182)
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 15)
idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.1TUBA1A, TUBA1B, TUBB2B
29.1TUBA1A, TUBA1B, TUBB2B
3
Show member pathways
9.1TUBA1A, TUBA1B, TUBB2B
4
Show member pathways
9.1TUBA1A, TUBA1B, TUBB2B
5
Show member pathways
9.1TUBA1A, TUBA1B, TUBB2B
6
Show member pathways
9.1TUBA1A, TUBA1B, TUBB2B
7
Show member pathways
9.1TUBA1A, TUBA1B, TUBB2B
89.1TUBA1A, TUBA1B, TUBB2B
99.0CDK5, PAFAH1B1, RELN
109.0CDK5, DCX, PAFAH1B1, TUBA1B
118.8CDK5, KIF2A, RELN
128.8DCX, PAFAH1B1, TUBA1A, TUBA1B, TUBG1
138.7CDK5, DCX, PAFAH1B1, RELN
14
Show member pathways
8.7CDK5, TUBA1A, TUBA1B, TUBB2B
15
Show member pathways
8.3CDK5, 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
2spindle microtubuleGO:000587610.1KIF2A, TUBG1
3cell leading edgeGO:003125210.0PAFAH1B1, TUBG1
4cytoplasmic microtubuleGO:00058819.8TUBA1A, TUBA1B, TUBG1
5spindle poleGO:00009229.6KATNB1, KIF2A, WDR62
6growth coneGO:00304269.4CDK5, KATNB1, PAFAH1B1
7centrosomeGO:00058138.9KATNB1, KIF2A, PAFAH1B1, TUBG1, WDR62
8microtubuleGO:00058748.3DCX, 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
3mitotic spindle organizationGO:000705210.0KIF2A, WDR62
4dendrite morphogenesisGO:004881310.0CDK5, DCX
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
10microtubule-based processGO:00070179.2PAFAH1B1, TUBA1A, TUBA1B, TUBB2B
11cerebral cortex developmentGO:00219879.1CDK5, PAFAH1B1, RELN, WDR62
12brain developmentGO:00074209.1DCX, PAFAH1B1, RELN
13layer formation in cerebral cortexGO:00218199.1CDK5, DCX, PAFAH1B1, RELN
14cell migrationGO:00164779.0CDK5, PAFAH1B1, RELN
15associative learningGO:00083069.0CDK5, RELN
16hippocampus developmentGO:00217668.9CDK5, DCX, PAFAH1B1, RELN
17cell divisionGO:00513018.7CDK5, KATNB1, KIF2A, TUBA1A, TUBA1B
18neuron migrationGO:00017648.1CDK5, 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:00051989.6LAMC3, TUBA1A, TUBA1B
3structural constituent of cytoskeletonGO:00052009.0TUBA1A, TUBA1B, TUBB2B, TUBG1
4microtubule bindingGO:00080178.9DCX, KATNB1, KIF2A, PAFAH1B1
5GTPase activityGO:00039248.8TUBA1A, TUBA1B, TUBB2B, TUBG1
6GTP bindingGO:00055258.7TUBA1A, TUBA1B, TUBB2B, TUBG1

Sources for Pachygyria

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet