MCID: BLT016
MIFTS: 23

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. An important gene associated with Bilateral Polymicrogyria is CCDC88A (Coiled-Coil Domain Containing 88A), and among its related pathways/superpathways is Mesodermal Commitment Pathway. Affiliated tissues include tongue and brain, and related phenotypes are abnormal pyramidal sign and global developmental delay

Related Diseases for Bilateral Polymicrogyria

Diseases in the Bilateral Polymicrogyria family:

Bilateral Frontal Polymicrogyria

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

# Related Disease Score Top Affiliating Genes
1 peho-like syndrome 11.1
2 polymicrogyria 10.3
3 endosteal hyperostosis, autosomal dominant 9.9
4 joubert syndrome 1 9.9

Symptoms & Phenotypes for Bilateral Polymicrogyria

Human phenotypes related to Bilateral Polymicrogyria:

60 33 (show all 46)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormal pyramidal sign 60 33 frequent (33%) Frequent (79-30%) HP:0007256
2 global developmental delay 60 33 frequent (33%) Frequent (79-30%) HP:0001263
3 delayed speech and language development 60 33 frequent (33%) Frequent (79-30%) HP:0000750
4 intellectual disability, mild 60 33 frequent (33%) Frequent (79-30%) HP:0001256
5 ventriculomegaly 60 33 frequent (33%) Frequent (79-30%) HP:0002119
6 motor delay 60 33 frequent (33%) Frequent (79-30%) HP:0001270
7 intellectual disability, moderate 60 33 frequent (33%) Frequent (79-30%) HP:0002342
8 mental deterioration 60 33 frequent (33%) Frequent (79-30%) HP:0001268
9 dyslexia 60 33 frequent (33%) Frequent (79-30%) HP:0010522
10 cerebellar atrophy 60 33 frequent (33%) Frequent (79-30%) HP:0001272
11 spastic tetraparesis 60 33 frequent (33%) Frequent (79-30%) HP:0001285
12 language impairment 60 33 frequent (33%) Frequent (79-30%) HP:0002463
13 functional motor deficit 60 33 frequent (33%) Frequent (79-30%) HP:0004302
14 esotropia 60 33 frequent (33%) Frequent (79-30%) HP:0000565
15 focal seizures, afebril 60 33 frequent (33%) Frequent (79-30%) HP:0040168
16 aplasia/hypoplasia of the brainstem 60 33 frequent (33%) Frequent (79-30%) HP:0007362
17 cerebellar ataxia associated with quadrupedal gait 60 33 frequent (33%) Frequent (79-30%) HP:0009878
18 spastic hemiparesis 60 33 frequent (33%) Frequent (79-30%) HP:0011099
19 aplasia/hypoplasia of the cerebral white matter 60 33 frequent (33%) Frequent (79-30%) HP:0012429
20 perisylvian polymicrogyria 60 33 frequent (33%) Frequent (79-30%) HP:0012650
21 macrocephaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0000256
22 low-set ears 60 33 occasional (7.5%) Occasional (29-5%) HP:0000369
23 sensorineural hearing impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0000407
24 micrognathia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000347
25 generalized myoclonic seizures 60 33 occasional (7.5%) Occasional (29-5%) HP:0002123
26 feeding difficulties 60 33 occasional (7.5%) Occasional (29-5%) HP:0011968
27 generalized tonic-clonic seizures 60 33 occasional (7.5%) Occasional (29-5%) HP:0002069
28 arthrogryposis multiplex congenita 60 33 occasional (7.5%) Occasional (29-5%) HP:0002804
29 talipes equinovarus 60 33 occasional (7.5%) Occasional (29-5%) HP:0001762
30 wide mouth 60 33 occasional (7.5%) Occasional (29-5%) HP:0000154
31 infantile spasms 60 33 occasional (7.5%) Occasional (29-5%) HP:0012469
32 facial diplegia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001349
33 drooling 60 33 occasional (7.5%) Occasional (29-5%) HP:0002307
34 difficulty in tongue movements 60 33 occasional (7.5%) Occasional (29-5%) HP:0000183
35 pseudobulbar paralysis 60 33 occasional (7.5%) Occasional (29-5%) HP:0007024
36 frontoparietal polymicrogyria 60 33 occasional (7.5%) Occasional (29-5%) HP:0007095
37 central hypothyroidism 60 33 occasional (7.5%) Occasional (29-5%) HP:0011787
38 abnormality of masticatory muscle 60 33 occasional (7.5%) Occasional (29-5%) HP:0410011
39 abnormal glossopharyngeal nerve morphology 60 33 occasional (7.5%) Occasional (29-5%) HP:3000047
40 4-layered lissencephaly 33 occasional (7.5%) HP:0006818
41 seizures 60 Very frequent (99-80%)
42 dysarthria 60 Occasional (29-5%)
43 cognitive impairment 60 Frequent (79-30%)
44 generalized seizures 60 Occasional (29-5%)
45 pseudobulbar signs 60 Frequent (79-30%)
46 type i lissencephaly 60 Occasional (29-5%)

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:

42
Tongue, Brain

Publications for Bilateral Polymicrogyria

Articles related to Bilateral Polymicrogyria:

# Title Authors Year
1
De novo mutations in GRIN1 cause extensive bilateral polymicrogyria. ( 29365063 )
2018
2
Effectiveness of total corpus callosotomy for diffuse bilateral polymicrogyria: Report of three pediatric cases. ( 29622280 )
2018
3
Bilateral polymicrogyria: always think in chromosome 22q11.2 deletion syndromes. ( 22674744 )
2011
4
Bilateral Polymicrogyria and MELAS/A3243G Mutation. A Very Uncommon Association. ( 24059608 )
2011
5
Bilateral polymicrogyria as the indicative feature in a child with a 22q11.2 deletion. ( 20553986 )
2010
6
Joubert syndrome with bilateral polymicrogyria: clinical and neuropathological findings in two brothers. ( 19533793 )
2009
7
A new syndrome of congenital generalized osteosclerosis and bilateral polymicrogyria. ( 16097005 )
2005

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
11.1 CCDC88A EOMES

GO Terms for Bilateral Polymicrogyria

Sources for Bilateral Polymicrogyria

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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