BFPP
MCID: BLT008
MIFTS: 38

Bilateral Frontoparietal Polymicrogyria (BFPP) malady

Genetic diseases, Rare diseases, Neuronal diseases, Fetal diseases categories
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Summaries for Bilateral Frontoparietal Polymicrogyria

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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 based summary: Bilateral Frontoparietal Polymicrogyria, also known as cerebellar ataxia with neuronal migration defect, is related to polymicrogyria and lennox-gastaut syndrome, and has symptoms including An important gene associated with Bilateral Frontoparietal Polymicrogyria is GPR56 (G protein-coupled receptor 56). Affiliated tissues include brain, cortex and eye.

Wikipedia:65 Bilateral frontoparietal polymicrogyria (BFPP) is a genetic disorder with autosomal recessive... more...

Descriptions from OMIM:46 300388, 606854, 610031, 612691, 614833 615752 more

Aliases & Classifications for Bilateral Frontoparietal Polymicrogyria

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Sources:
42NIH Rare Diseases, 22GTR, 48Orphanet, 62UMLS, 46OMIM, 26ICD10 via Orphanet
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Bilateral Frontoparietal Polymicrogyria, Aliases & Descriptions:

Name: Bilateral Frontoparietal Polymicrogyria 42 22 48
Cerebellar Ataxia with Neuronal Migration Defect 42 62
Polymicrogyria, Bilateral Frontoparietal 46 62
 
Bilateral Polymicrogyria 48 46
Bfpp 42


Classifications:

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


External Ids:

ICD10 via Orphanet26 Q04.3

Related Diseases for Bilateral Frontoparietal Polymicrogyria

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

idRelated DiseaseScoreTop Affiliating Genes
1polymicrogyria10.9
2lennox-gastaut syndrome10.3
3polymicrogyria, symmetric or asymmetric10.3
4joubert syndrome10.1
5osteosclerosis10.1
6chondrosarcoma10.1

Graphical network of diseases related to Bilateral Frontoparietal Polymicrogyria:



Diseases related to bilateral frontoparietal polymicrogyria

Symptoms for Bilateral Frontoparietal Polymicrogyria

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Symptoms by clinical synopsis from OMIM:

300388

Clinical features from OMIM:

300388,606854,610031,612691,614833,615752

HPO human phenotypes related to Bilateral Frontoparietal Polymicrogyria:

(show all 26)
id Description Frequency HPO Source Accession
1 delayed speech and language development HP:0000750
2 x-linked dominant inheritance HP:0001423
3 generalized tonic-clonic seizures HP:0002069
4 polymicrogyria HP:0002126
5 pseudobulbar paralysis HP:0007024
6 atypical absence seizures HP:0007270
7 dyslexia HP:0010522
8 cognitive impairment HP:0100543
9 autosomal recessive inheritance HP:0000007
10 esotropia HP:0000565
11 exotropia HP:0000577
12 nystagmus HP:0000639
13 intellectual disability HP:0001249
14 seizures HP:0001250
15 global developmental delay HP:0001263
16 hypertonia HP:0001276
17 cerebellar hypoplasia HP:0001321
18 hyperreflexia HP:0001347
19 truncal ataxia HP:0002078
20 broad-based gait HP:0002136
21 hypoplasia of the brainstem HP:0002365
22 babinski sign HP:0003487
23 polymicrogyria, anterior to posterior gradient HP:0006821
24 frontoparietal polymicrogyria HP:0007095
25 cerebral dysmyelination HP:0007266
26 ankle clonus HP:0011448

Drugs & Therapeutics for Bilateral Frontoparietal Polymicrogyria

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Drug clinical trials:

Search ClinicalTrials for Bilateral Frontoparietal Polymicrogyria

Search NIH Clinical Center for Bilateral Frontoparietal Polymicrogyria

Genetic Tests for Bilateral Frontoparietal Polymicrogyria

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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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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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Articles related to Bilateral Frontoparietal Polymicrogyria:

(show all 12)
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 frontoparietal polymicrogyria and epilepsy. (10734259)
2000

Variations for Bilateral Frontoparietal Polymicrogyria

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

64
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

Clinvar genetic disease variations for Bilateral Frontoparietal Polymicrogyria:

6
id Gene Name Type Significance SNP ID Assembly Location
1GPR56NM_005682.6(GPR56): c.1167+3G> Csingle nucleotide variantPathogenicGRCh38Chr 16, 57656620: 57656620
2GPR56NM_005682.6(GPR56): c.621-1G> Csingle nucleotide variantPathogenicGRCh38Chr 16, 57653985: 57653985
3GPR56NM_005682.6(GPR56): c.739_745delCAGGACC (p.Gln247Cysfs)deletionPathogenicGRCh38Chr 16, 57654104: 57654110
4GPR56NM_005682.6(GPR56): c.112C> T (p.Arg38Trp)single nucleotide variantPathogenicrs121908462GRCh37Chr 16, 57685159: 57685159
5GPR56NM_005682.6(GPR56): c.1036T> A (p.Cys346Ser)single nucleotide variantPathogenicrs121908463GRCh37Chr 16, 57690156: 57690156
6GPR56NM_005682.6(GPR56): c.1693C> T (p.Arg565Trp)single nucleotide variantPathogenicrs121908464GRCh37Chr 16, 57695619: 57695619
7GPR56NM_005682.6(GPR56): c.272G> C (p.Cys91Ser)single nucleotide variantPathogenicrs121908465GRCh37Chr 16, 57685319: 57685319
8GPR56NM_005682.6(GPR56): c.263A> G (p.Tyr88Cys)single nucleotide variantPathogenicrs121908466GRCh37Chr 16, 57685310: 57685310

Expression for genes affiliated with Bilateral Frontoparietal Polymicrogyria

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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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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet