BFPP
MCID: BLT008
MIFTS: 37

Bilateral Frontoparietal Polymicrogyria (BFPP) malady

Neuronal diseases, Fetal diseases categories

Summaries for Bilateral Frontoparietal Polymicrogyria

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42NIH Rare Diseases, 63Wikipedia, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 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 eye.

Wikipedia:63 Bilateral frontoparietal polymicrogyria (BFPP) is a genetic disorder with autosomal recessive... more...

Description from OMIM:46 612691,300388,606854,610031,614833

Aliases & Classifications for Bilateral Frontoparietal Polymicrogyria

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42NIH Rare Diseases, 22GTR, 46OMIM, 48Orphanet, 60UMLS, 26ICD10 via Orphanet
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Classifications:

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


Aliases & Descriptions:

bilateral frontoparietal polymicrogyria 42 22 48
polymicrogyria, bilateral frontoparietal 46 60
bilateral polymicrogyria 48 46
cerebellar ataxia with neuronal migration defect 42
bfpp 42


External Ids:

ICD10 via Orphanet26 Q04.3

Related Diseases for Bilateral Frontoparietal Polymicrogyria

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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
3polymicrogyria, symmetric or asymmetric10.3
4joubert syndrome10.0
5osteosclerosis10.0
6chondrosarcoma10.0

Graphical network of diseases related to Bilateral Frontoparietal Polymicrogyria:



Diseases related to bilateral frontoparietal polymicrogyria

Clinical Features for Bilateral Frontoparietal Polymicrogyria

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46OMIM
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Clinical features from OMIM:

612691,300388,606854,610031,614833

Clinical synopsis from OMIM:

300388

Drugs & Therapeutics for Bilateral Frontoparietal Polymicrogyria

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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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

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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

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32MalaCards
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MalaCards organs/tissues related to Bilateral Frontoparietal Polymicrogyria:

32
Brain, Cortex, Eye, Parietal lobe

Animal Models for Bilateral Frontoparietal Polymicrogyria or affiliated genes

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Publications for Bilateral Frontoparietal Polymicrogyria

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Genetic Variations for Bilateral Frontoparietal Polymicrogyria

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Bilateral Frontoparietal Polymicrogyria:

62
id Symbol AA change Variation ID 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

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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

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Compounds for genes affiliated with Bilateral Frontoparietal Polymicrogyria

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GO Terms for genes affiliated with Bilateral Frontoparietal Polymicrogyria

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Products for genes affiliated with Bilateral Frontoparietal Polymicrogyria

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  • Antibodies
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  • Lysates
  • Antibodies

Sources for Bilateral Frontoparietal Polymicrogyria

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet