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 9.8

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:

41
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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....