MCID: PLY117
MIFTS: 28

Polymicrogyria, Bilateral Frontoparietal malady

Genetic diseases, Rare diseases, Neuronal diseases, Fetal diseases categories

Aliases & Classifications for Polymicrogyria, Bilateral Frontoparietal

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Sources:
45OMIM, 10diseasecard, 60UMLS, 41NIH Rare Diseases, 47Orphanet, 22GTR, 26ICD10 via Orphanet
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Polymicrogyria, Bilateral Frontoparietal, Aliases & Descriptions:

Name: Polymicrogyria, Bilateral Frontoparietal 45 10 60
Bilateral Frontoparietal Polymicrogyria 41 47 22
 
Cerebellar Ataxia with Neuronal Migration Defect 41
Bfpp 41


Classifications:

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


External Ids:

OMIM45 606854
Orphanet47 101070
ICD10 via Orphanet26 Q04.3

Summaries for Polymicrogyria, Bilateral Frontoparietal

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NIH Rare Diseases:41 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: Polymicrogyria, Bilateral Frontoparietal, also known as bilateral frontoparietal polymicrogyria, is related to polymicrogyria and polymicrogyria, symmetric or asymmetric, and has symptoms including autosomal recessive inheritance, esotropia and exotropia. An important gene associated with Polymicrogyria, Bilateral Frontoparietal is GPR56 (G protein-coupled receptor 56). Affiliated tissues include brain, eye and cortex.

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

Description from OMIM:45 606854

Related Diseases for Polymicrogyria, Bilateral Frontoparietal

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

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

Symptoms for Polymicrogyria, Bilateral Frontoparietal

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Symptoms by clinical synopsis from OMIM:

606854

Clinical features from OMIM:

606854

HPO human phenotypes related to Polymicrogyria, Bilateral Frontoparietal:

(show all 18)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 esotropia HP:0000565
3 exotropia HP:0000577
4 nystagmus HP:0000639
5 intellectual disability HP:0001249
6 seizures HP:0001250
7 global developmental delay HP:0001263
8 hypertonia HP:0001276
9 cerebellar hypoplasia HP:0001321
10 hyperreflexia HP:0001347
11 truncal ataxia HP:0002078
12 broad-based gait HP:0002136
13 hypoplasia of the brainstem HP:0002365
14 babinski sign HP:0003487
15 polymicrogyria, anterior to posterior gradient HP:0006821
16 frontoparietal polymicrogyria HP:0007095
17 cerebral dysmyelination HP:0007266
18 ankle clonus HP:0011448

Drugs & Therapeutics for Polymicrogyria, Bilateral Frontoparietal

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Drug clinical trials:

Search ClinicalTrials for Polymicrogyria, Bilateral Frontoparietal

Search NIH Clinical Center for Polymicrogyria, Bilateral Frontoparietal

Genetic Tests for Polymicrogyria, Bilateral Frontoparietal

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Genetic tests related to Polymicrogyria, Bilateral Frontoparietal:

id Genetic test Affiliating Genes
1 Polymicrogyria, Bilateral Frontoparietal22

Anatomical Context for Polymicrogyria, Bilateral Frontoparietal

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MalaCards organs/tissues related to Polymicrogyria, Bilateral Frontoparietal:

31
Brain, Eye, Cortex, Parietal lobe

Animal Models for Polymicrogyria, Bilateral Frontoparietal or affiliated genes

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Publications for Polymicrogyria, Bilateral Frontoparietal

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Variations for Polymicrogyria, Bilateral Frontoparietal

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

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

Clinvar genetic disease variations for Polymicrogyria, Bilateral Frontoparietal:

6
id Gene Variation 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 Polymicrogyria, Bilateral Frontoparietal

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

Pathways for genes affiliated with Polymicrogyria, Bilateral Frontoparietal

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Compounds for genes affiliated with Polymicrogyria, Bilateral Frontoparietal

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GO Terms for genes affiliated with Polymicrogyria, Bilateral Frontoparietal

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Products for genes affiliated with Polymicrogyria, Bilateral Frontoparietal

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Sources for Polymicrogyria, Bilateral Frontoparietal

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet