MCID: BLT016
MIFTS: 27

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:

58 31 (show all 46)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormal pyramidal sign 58 31 frequent (33%) Frequent (79-30%) HP:0007256
2 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
3 delayed speech and language development 58 31 frequent (33%) Frequent (79-30%) HP:0000750
4 intellectual disability, moderate 58 31 frequent (33%) Frequent (79-30%) HP:0002342
5 intellectual disability, mild 58 31 frequent (33%) Frequent (79-30%) HP:0001256
6 ventriculomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0002119
7 motor delay 58 31 frequent (33%) Frequent (79-30%) HP:0001270
8 mental deterioration 58 31 frequent (33%) Frequent (79-30%) HP:0001268
9 dyslexia 58 31 frequent (33%) Frequent (79-30%) HP:0010522
10 perisylvian polymicrogyria 58 31 frequent (33%) Frequent (79-30%) HP:0012650
11 focal seizures, afebril 58 31 frequent (33%) Frequent (79-30%) HP:0040168
12 cerebellar atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0001272
13 spastic tetraparesis 58 31 frequent (33%) Frequent (79-30%) HP:0001285
14 language impairment 58 31 frequent (33%) Frequent (79-30%) HP:0002463
15 functional motor deficit 58 31 frequent (33%) Frequent (79-30%) HP:0004302
16 esotropia 58 31 frequent (33%) Frequent (79-30%) HP:0000565
17 aplasia/hypoplasia of the brainstem 58 31 frequent (33%) Frequent (79-30%) HP:0007362
18 cerebellar ataxia associated with quadrupedal gait 58 31 frequent (33%) Frequent (79-30%) HP:0009878
19 spastic hemiparesis 58 31 frequent (33%) Frequent (79-30%) HP:0011099
20 aplasia/hypoplasia of the cerebral white matter 58 31 frequent (33%) Frequent (79-30%) HP:0012429
21 macrocephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000256
22 low-set ears 58 31 occasional (7.5%) Occasional (29-5%) HP:0000369
23 feeding difficulties 58 31 occasional (7.5%) Occasional (29-5%) HP:0011968
24 micrognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000347
25 sensorineural hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000407
26 arthrogryposis multiplex congenita 58 31 occasional (7.5%) Occasional (29-5%) HP:0002804
27 generalized myoclonic seizures 58 31 occasional (7.5%) Occasional (29-5%) HP:0002123
28 generalized tonic-clonic seizures 58 31 occasional (7.5%) Occasional (29-5%) HP:0002069
29 talipes equinovarus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001762
30 wide mouth 58 31 occasional (7.5%) Occasional (29-5%) HP:0000154
31 central hypothyroidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0011787
32 drooling 58 31 occasional (7.5%) Occasional (29-5%) HP:0002307
33 infantile spasms 58 31 occasional (7.5%) Occasional (29-5%) HP:0012469
34 facial diplegia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001349
35 difficulty in tongue movements 58 31 occasional (7.5%) Occasional (29-5%) HP:0000183
36 abnormality of masticatory muscle 58 31 occasional (7.5%) Occasional (29-5%) HP:0410011
37 pseudobulbar paralysis 58 31 occasional (7.5%) Occasional (29-5%) HP:0007024
38 frontoparietal polymicrogyria 58 31 occasional (7.5%) Occasional (29-5%) HP:0007095
39 abnormal glossopharyngeal nerve morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:3000047
40 4-layered lissencephaly 31 occasional (7.5%) HP:0006818
41 seizures 58 Very frequent (99-80%)
42 dysarthria 58 Occasional (29-5%)
43 cognitive impairment 58 Frequent (79-30%)
44 generalized-onset seizure 58 Occasional (29-5%)
45 pseudobulbar signs 58 Frequent (79-30%)
46 type i lissencephaly 58 Occasional (29-5%)

GenomeRNAi Phenotypes related to Bilateral Polymicrogyria according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-204 9.28 EOMES
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-209 9.28 GRIN1
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 9.28 EOMES
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-22 9.28 EOMES GRIN1
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-27 9.28 EOMES
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-33 9.28 EOMES
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-38 9.28 GRIN1
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-91 9.28 GRIN1

MGI Mouse Phenotypes related to Bilateral Polymicrogyria:

45
# 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:

40
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. 61
30982090 2019
2
Further refinement of COL4A1 and COL4A2 related cortical malformations. 61
30315939 2018
3
Effectiveness of total corpus callosotomy for diffuse bilateral polymicrogyria: Report of three pediatric cases. 61
29622280 2018
4
White matter spongiosis with vigabatrin therapy for infantile spasms. 61
29473152 2018
5
De novo mutations in GRIN1 cause extensive bilateral polymicrogyria. 61
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. 61
27453818 2016
7
Compound heterozygosity in GPR56 with bilateral frontoparietal polymicrogyria. 61
23981349 2014
8
Pontine malformation, undecussated pyramidal tracts, and regional polymicrogyria: a new syndrome. 61
24507697 2014
9
Autosomal recessive bilateral frontal polymicrogyria with ectopia lentis and chorioretinal dystrophy. 61
24339607 2013
10
Polymicrogyria in a fetus with human parvovirus B19 infection: a case with radiologic-pathologic correlation. 61
22344957 2012
11
[Clinical variability of polymicrogiria: report of 35 new cases and review of the literature]. 61
22972573 2012
12
Bilateral polymicrogyria: always think in chromosome 22q11.2 deletion syndromes. 61
22674744 2011
13
Bilateral Polymicrogyria and MELAS/A3243G Mutation. A Very Uncommon Association. 61
24059608 2011
14
Bilateral polymicrogyria as the indicative feature in a child with a 22q11.2 deletion. 61
20553986 2010
15
The syndrome of perisylvian polymicrogyria with congenital arthrogryposis. 61
19751967 2010
16
Vagus nerve stimulation might have a unique effect in reflex eating seizures. 61
19780799 2010
17
Joubert syndrome with bilateral polymicrogyria: clinical and neuropathological findings in two brothers. 61
19533793 2009
18
Treatment of epilepsy in severely disabled children with bilateral brain malformations. 61
19036389 2009
19
Functional MRI in malformations of cortical development: activation of dysplastic tissue and functional reorganization. 61
18819184 2008
20
Interstitial deletion of 13q associated with polymicrogyria. 61
18324687 2008
21
Fumarate Hydratase Deficiency 61
20301679 2006
22
A familial syndrome of unilateral polymicrogyria affecting the right hemisphere. 61
16401865 2006
23
A new syndrome of congenital generalized osteosclerosis and bilateral polymicrogyria. 61
16097005 2005
24
Bilateral generalized polymicrogyria (BGP): a distinct syndrome of cortical malformation. 61
15159468 2004
25
[MRI of cerebral cortical dysgenesis]. 61
12624586 2003
26
MECP2 mutation in a boy with severe neonatal encephalopathy: clinical, neuropathological and molecular findings. 61
11930274 2002
27
Bilateral frontoparietal polymicrogyria and epilepsy. 61
10734259 2000
28
Bilateral focal polymicrogyria in Ehlers-Danlos syndrome. 61
10634459 2000
29
Late-onset epilepsy associated with regional brain cortical dysplasia. 61
10394042 1999
30
Absence of septum pellucidum and polymicrogyria: a forme fruste of the porencephalic syndrome. 61
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 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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