MCID: BLT016
MIFTS: 25

Bilateral Polymicrogyria

Categories: Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Bilateral Polymicrogyria

Summaries for Bilateral Polymicrogyria

MalaCards based summary : Bilateral Polymicrogyria is related to peho-like syndrome and polymicrogyria with or without vascular-type ehlers-danlos syndrome. An important gene associated with Bilateral Polymicrogyria is CCDC88A (Coiled-Coil Domain Containing 88A), and among its related pathways/superpathways are Mesodermal Commitment Pathway and Transcriptional Regulatory Network in Embryonic Stem Cell. Affiliated tissues include brain and tongue, and related phenotypes are abnormal pyramidal sign and global developmental delay

Related Diseases for Bilateral Polymicrogyria

Graphical network of the top 20 diseases related to Bilateral Polymicrogyria:



Diseases related to Bilateral Polymicrogyria

Symptoms & Phenotypes for Bilateral Polymicrogyria

Human phenotypes related to Bilateral Polymicrogyria:

59 32 (show all 46)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormal pyramidal sign 59 32 frequent (33%) Frequent (79-30%) HP:0007256
2 global developmental delay 59 32 frequent (33%) Frequent (79-30%) HP:0001263
3 delayed speech and language development 59 32 frequent (33%) Frequent (79-30%) HP:0000750
4 intellectual disability, mild 59 32 frequent (33%) Frequent (79-30%) HP:0001256
5 ventriculomegaly 59 32 frequent (33%) Frequent (79-30%) HP:0002119
6 motor delay 59 32 frequent (33%) Frequent (79-30%) HP:0001270
7 intellectual disability, moderate 59 32 frequent (33%) Frequent (79-30%) HP:0002342
8 mental deterioration 59 32 frequent (33%) Frequent (79-30%) HP:0001268
9 dyslexia 59 32 frequent (33%) Frequent (79-30%) HP:0010522
10 cerebellar atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0001272
11 spastic tetraparesis 59 32 frequent (33%) Frequent (79-30%) HP:0001285
12 language impairment 59 32 frequent (33%) Frequent (79-30%) HP:0002463
13 functional motor deficit 59 32 frequent (33%) Frequent (79-30%) HP:0004302
14 esotropia 59 32 frequent (33%) Frequent (79-30%) HP:0000565
15 focal seizures, afebril 59 32 frequent (33%) Frequent (79-30%) HP:0040168
16 aplasia/hypoplasia of the brainstem 59 32 frequent (33%) Frequent (79-30%) HP:0007362
17 cerebellar ataxia associated with quadrupedal gait 59 32 frequent (33%) Frequent (79-30%) HP:0009878
18 spastic hemiparesis 59 32 frequent (33%) Frequent (79-30%) HP:0011099
19 aplasia/hypoplasia of the cerebral white matter 59 32 frequent (33%) Frequent (79-30%) HP:0012429
20 perisylvian polymicrogyria 59 32 frequent (33%) Frequent (79-30%) HP:0012650
21 macrocephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000256
22 low-set ears 59 32 occasional (7.5%) Occasional (29-5%) HP:0000369
23 sensorineural hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000407
24 micrognathia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000347
25 feeding difficulties 59 32 occasional (7.5%) Occasional (29-5%) HP:0011968
26 generalized myoclonic seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0002123
27 generalized tonic-clonic seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0002069
28 arthrogryposis multiplex congenita 59 32 occasional (7.5%) Occasional (29-5%) HP:0002804
29 talipes equinovarus 59 32 occasional (7.5%) Occasional (29-5%) HP:0001762
30 wide mouth 59 32 occasional (7.5%) Occasional (29-5%) HP:0000154
31 infantile spasms 59 32 occasional (7.5%) Occasional (29-5%) HP:0012469
32 facial diplegia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001349
33 drooling 59 32 occasional (7.5%) Occasional (29-5%) HP:0002307
34 difficulty in tongue movements 59 32 occasional (7.5%) Occasional (29-5%) HP:0000183
35 abnormality of masticatory muscle 59 32 occasional (7.5%) Occasional (29-5%) HP:0410011
36 central hypothyroidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0011787
37 pseudobulbar paralysis 59 32 occasional (7.5%) Occasional (29-5%) HP:0007024
38 frontoparietal polymicrogyria 59 32 occasional (7.5%) Occasional (29-5%) HP:0007095
39 abnormal glossopharyngeal nerve morphology 59 32 occasional (7.5%) Occasional (29-5%) HP:3000047
40 4-layered lissencephaly 32 occasional (7.5%) HP:0006818
41 seizures 59 Very frequent (99-80%)
42 dysarthria 59 Occasional (29-5%)
43 cognitive impairment 59 Frequent (79-30%)
44 generalized-onset seizure 59 Occasional (29-5%)
45 pseudobulbar signs 59 Frequent (79-30%)
46 type i lissencephaly 59 Occasional (29-5%)

MGI Mouse Phenotypes related to Bilateral Polymicrogyria:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 8.8 CCDC88A EOMES GRIN1

Drugs & Therapeutics for Bilateral Polymicrogyria

Search Clinical Trials , NIH Clinical Center for Bilateral Polymicrogyria

Genetic Tests for Bilateral Polymicrogyria

Anatomical Context for Bilateral Polymicrogyria

MalaCards organs/tissues related to Bilateral Polymicrogyria:

41
Brain, Tongue

Publications for Bilateral Polymicrogyria

Articles related to Bilateral Polymicrogyria:

(show all 30)
# Title Authors PMID Year
1
Overlap of polymicrogyria, hydrocephalus, and Joubert syndrome in a family with novel truncating mutations in ADGRG1/GPR56 and KIAA0556. 38
30982090 2019
2
Further refinement of COL4A1 and COL4A2 related cortical malformations. 38
30315939 2018
3
Effectiveness of total corpus callosotomy for diffuse bilateral polymicrogyria: Report of three pediatric cases. 38
29622280 2018
4
White matter spongiosis with vigabatrin therapy for infantile spasms. 38
29473152 2018
5
De novo mutations in GRIN1 cause extensive bilateral polymicrogyria. 38
29365063 2018
6
Successful hemispherotomy for a patient with intractable epilepsy secondary to bilateral congenital brain malformation with lateralized pyramidal tract of diffusion tensor image tractography. 38
27453818 2016
7
Compound heterozygosity in GPR56 with bilateral frontoparietal polymicrogyria. 38
23981349 2014
8
Pontine malformation, undecussated pyramidal tracts, and regional polymicrogyria: a new syndrome. 38
24507697 2014
9
Autosomal recessive bilateral frontal polymicrogyria with ectopia lentis and chorioretinal dystrophy. 38
24339607 2013
10
Polymicrogyria in a fetus with human parvovirus B19 infection: a case with radiologic-pathologic correlation. 38
22344957 2012
11
[Clinical variability of polymicrogiria: report of 35 new cases and review of the literature]. 38
22972573 2012
12
Bilateral polymicrogyria: always think in chromosome 22q11.2 deletion syndromes. 38
22674744 2011
13
Bilateral Polymicrogyria and MELAS/A3243G Mutation. A Very Uncommon Association. 38
24059608 2011
14
Bilateral polymicrogyria as the indicative feature in a child with a 22q11.2 deletion. 38
20553986 2010
15
The syndrome of perisylvian polymicrogyria with congenital arthrogryposis. 38
19751967 2010
16
Vagus nerve stimulation might have a unique effect in reflex eating seizures. 38
19780799 2010
17
Joubert syndrome with bilateral polymicrogyria: clinical and neuropathological findings in two brothers. 38
19533793 2009
18
Treatment of epilepsy in severely disabled children with bilateral brain malformations. 38
19036389 2009
19
Functional MRI in malformations of cortical development: activation of dysplastic tissue and functional reorganization. 38
18819184 2008
20
Interstitial deletion of 13q associated with polymicrogyria. 38
18324687 2008
21
Fumarate Hydratase Deficiency 38
20301679 2006
22
A familial syndrome of unilateral polymicrogyria affecting the right hemisphere. 38
16401865 2006
23
A new syndrome of congenital generalized osteosclerosis and bilateral polymicrogyria. 38
16097005 2005
24
Bilateral generalized polymicrogyria (BGP): a distinct syndrome of cortical malformation. 38
15159468 2004
25
[MRI of cerebral cortical dysgenesis]. 38
12624586 2003
26
MECP2 mutation in a boy with severe neonatal encephalopathy: clinical, neuropathological and molecular findings. 38
11930274 2002
27
Bilateral frontoparietal polymicrogyria and epilepsy. 38
10734259 2000
28
Bilateral focal polymicrogyria in Ehlers-Danlos syndrome. 38
10634459 2000
29
Late-onset epilepsy associated with regional brain cortical dysplasia. 38
10394042 1999
30
Absence of septum pellucidum and polymicrogyria: a forme fruste of the porencephalic syndrome. 38
2776383 1989

Variations for Bilateral Polymicrogyria

Expression for Bilateral Polymicrogyria

Search GEO for disease gene expression data for Bilateral Polymicrogyria.

Pathways for Bilateral Polymicrogyria

Pathways related to Bilateral Polymicrogyria according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.44 EOMES CCDC88A
2 10.25 GRIN1 EOMES

GO Terms for Bilateral Polymicrogyria

Biological processes related to Bilateral Polymicrogyria according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 brain development GO:0007420 8.62 GRIN1 EOMES

Sources for Bilateral Polymicrogyria

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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