BFPP
MCID: BLT008
MIFTS: 33

Bilateral Frontoparietal Polymicrogyria (BFPP) malady

Neuronal, Fetal categories

Summaries for Bilateral Frontoparietal Polymicrogyria

Sources:
43NIH Rare Diseases, 64Wikipedia, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 Bilateral frontoparietal polymicrogyria (bfpp) is an abnormality of the developing brain in which the brain develops too many folds (which are also unusually small). bfpp specifically affects the frontal and parietal lobes and occurs in both sides of the brain (bilateral). signs and symptoms of bfpp typically include moderate to severe intellectual disability, motor developmental delay, seizures, cerebellar ataxia, strabismus, dysconjugate gaze (eyes that are not aligned) and other findings. some cases of bfpp are caused by mutations in the gpr56 gene, and it is inherited in an autosomal recessive manner. last updated: 8/24/2011

MalaCards: Bilateral Frontoparietal Polymicrogyria, also known as polymicrogyria, bilateral frontoparietal, is related to polymicrogyria and lennox-gastaut syndrome. An important gene associated with Bilateral Frontoparietal Polymicrogyria is GPR56 (G protein-coupled receptor 56). Affiliated tissues include brain, cortex and parietal lobe.

Wikipedia:64 Bilateral frontoparietal polymicrogyria (BFPP) is a genetic disorder with autosomal recessive... more...

Description from OMIM:47 612691,300388,606854,610031,614833

Aliases & Classifications for Bilateral Frontoparietal Polymicrogyria

Sources:
43NIH Rare Diseases, 22GTR, 49Orphanet, 47OMIM, 61UMLS, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal
Anatomical: Neuronal


Aliases & Descriptions:

bilateral frontoparietal polymicrogyria 43 22 49
polymicrogyria, bilateral frontoparietal 47 61
bilateral polymicrogyria 49 47
cerebellar ataxia with neuronal migration defect 43
bfpp 43


External Ids:

ICD10 via Orphanet26 Q04.3

Related Diseases for Bilateral Frontoparietal Polymicrogyria

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Bilateral Frontoparietal Polymicrogyria via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1polymicrogyria10.8
2lennox-gastaut syndrome10.3
3chromosome 16q deletion10.3
4polymicrogyria, symmetric or asymmetric10.3
5n syndrome10.0
6joubert syndrome10.0
7bilateral generalized polymicrogyria10.0
8chromosome 22q deletion10.0

Graphical network of diseases related to Bilateral Frontoparietal Polymicrogyria:



Diseases related to bilateral frontoparietal polymicrogyria

Clinical Features for Bilateral Frontoparietal Polymicrogyria

Sources:
47OMIM
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Clinical features from OMIM:

612691,300388,606854,610031,614833

Clinical synopsis from OMIM:

300388

Drugs & Therapeutics for Bilateral Frontoparietal Polymicrogyria

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Bilateral Frontoparietal Polymicrogyria

Drug clinical trials:

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Search NIH Clinical Center for Bilateral Frontoparietal Polymicrogyria

Search CenterWatch for Bilateral Frontoparietal Polymicrogyria

Genetic Tests for Bilateral Frontoparietal Polymicrogyria

Sources:
22GTR
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Genetic tests related to Bilateral Frontoparietal Polymicrogyria:

id Genetic test Affiliating Genes
1 Polymicrogyria, Bilateral Frontoparietal22

Anatomical Context for Bilateral Frontoparietal Polymicrogyria

Sources:
33MalaCards
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MalaCards organs/tissues related to Bilateral Frontoparietal Polymicrogyria:

33
Brain, Cortex, Parietal lobe, Occipital lobe

Animal Models for Bilateral Frontoparietal Polymicrogyria or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Bilateral Frontoparietal Polymicrogyria

Sources:
51PubMed
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Articles related to Bilateral Frontoparietal Polymicrogyria:

(show all 13)
idTitleAuthorsYear
1
Compound heterozygosity in GPR56 with bilateral frontoparietal polymicrogyria. (23981349)
2013
2
Disease-associated GPR56 mutations cause bilateral frontoparietal polymicrogyria via multiple mechanisms. (21349848)
2011
3
A novel GPR56 mutation causes bilateral frontoparietal polymicrogyria. (21723461)
2011
4
GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complex. (20929962)
2010
5
Bilateral frontoparietal polymicrogyria, Lennox-Gastaut syndrome, and GPR56 gene mutations. (19016831)
2009
6
Bilateral frontoparietal polymicrogyria (BFPP) syndrome secondary to a 16q12.1-q21 chromosome deletion involving GPR56 gene. (19807741)
2009
7
Biochemical characterization of genetic mutations of GPR56 in patients with bilateral frontoparietal polymicrogyria (BFPP). (18042463)
2008
8
Three patients with severe bilateral frontoparietal polymicrogyria. (18410852)
2008
9
Bilateral frontoparietal polymicrogyria: clinical and radiological features in 10 families with linkage to chromosome 16. (12730993)
2003
10
Bilateral Frontoparietal Polymicrogyria Linked to Chromosome 16. (15346151)
2003
11
An autosomal recessive form of bilateral frontoparietal polymicrogyria maps to chromosome 16q12.2-21. (11845408)
2002
12
Bilateral symmetrical frontoparietal polymicrogyria. (12374591)
2002
13
Bilateral frontoparietal polymicrogyria and epilepsy. (10734259)
2000

Genetic Variations for Bilateral Frontoparietal Polymicrogyria

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Bilateral Frontoparietal Polymicrogyria:

63
id Symbol AA change Variation SNP ID
1GPR56p.Arg38TrpVAR_026242
2GPR56p.Tyr88CysVAR_026243
3GPR56p.Cys91SerVAR_026244
4GPR56p.Cys346SerVAR_026245
5GPR56p.Arg565TrpVAR_026246
6GPR56p.Arg38GlnVAR_069581
7GPR56p.Trp349SerVAR_069582
8GPR56p.Glu496LysVAR_069583
9GPR56p.Leu640ArgVAR_069584

Expression for genes affiliated with Bilateral Frontoparietal Polymicrogyria

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Bilateral Frontoparietal Polymicrogyria

Search GEO for disease gene expression data for Bilateral Frontoparietal Polymicrogyria.

Pathways for genes affiliated with Bilateral Frontoparietal Polymicrogyria

Compounds for genes affiliated with Bilateral Frontoparietal Polymicrogyria

GO Terms for genes affiliated with Bilateral Frontoparietal Polymicrogyria

Products for genes affiliated with Bilateral Frontoparietal Polymicrogyria

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Sources for Bilateral Frontoparietal Polymicrogyria

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet