MCID: BLT016
MIFTS: 13

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 brain.

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 joubert syndrome 1 9.9

Symptoms & Phenotypes for Bilateral Polymicrogyria

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
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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