MCID: PLY117
MIFTS: 26

Polymicrogyria, Bilateral Frontoparietal malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Fetal diseases

Aliases & Classifications for Polymicrogyria, Bilateral Frontoparietal

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Aliases & Descriptions for Polymicrogyria, Bilateral Frontoparietal:

Name: Polymicrogyria, Bilateral Frontoparietal 50 68 12 66
Bilateral Frontoparietal Polymicrogyria 46 52 25
 
Cerebellar Ataxia with Neuronal Migration Defect 46 68
Bfpp 46 68

Characteristics:

HPO:

62
polymicrogyria, bilateral frontoparietal:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 606854
Orphanet52 ORPHA101070
ICD10 via Orphanet29 Q04.3
MedGen35 C1847352
MeSH37 D054220

Summaries for Polymicrogyria, Bilateral Frontoparietal

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NIH Rare Diseases:46 Bilateral frontoparietal polymicrogyria (bfpp) is a rare neurological disorder that affects the cerebral cortex (the outer surface of the brain). bfpp specifically affects the frontal and parietal lobes on both sides of the brain (bilateral). signs and symptoms typically include moderate to severe intellectual disability, developmental delay, seizures, cerebellar ataxia, strabismus, and dysconjugate gaze (eyes that are not aligned). some cases are caused by mutations in the gpr56 gene and are inherited in an autosomal recessive manner. treatment is based on the signs and symptoms present in each person. last updated: 6/8/2015

MalaCards based summary: Polymicrogyria, Bilateral Frontoparietal, also known as bilateral frontoparietal polymicrogyria, is related to polymicrogyria, and has symptoms including seizures, seizures and pyramidal sign. An important gene associated with Polymicrogyria, Bilateral Frontoparietal is ADGRG1 (Adhesion G Protein-Coupled Receptor G1). Affiliated tissues include brain, cortex and parietal lobe.

UniProtKB/Swiss-Prot:68 Polymicrogyria, bilateral frontoparietal: A malformation of the cortex in which the brain surface is irregular and characterized by an excessive number of small gyri with abnormal lamination, most severe in the frontoparietal regions. BFPP clinical manifestations include developmental and psychomotor delay, cerebellar and pyramidal signs, truncal ataxia, seizures, hyperreflexia. Polymicrogyria is a heterogeneous disorder, considered to be the result of postmigratory abnormal cortical organization.

Wikipedia:69 Bilateral frontoparietal polymicrogyria (BFPP) is a genetic disorder with autosomal recessive... more...

Description from OMIM:50 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
1polymicrogyria10.1

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

UMLS symptoms related to Polymicrogyria, Bilateral Frontoparietal:


seizures, pyramidal sign, ataxia, truncal

Drugs & Therapeutics for Polymicrogyria, Bilateral Frontoparietal

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Interventional clinical trials:

Search ClinicalTrials, 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 Frontoparietal25

Anatomical Context for Polymicrogyria, Bilateral Frontoparietal

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MalaCards organs/tissues related to Polymicrogyria, Bilateral Frontoparietal:

34
Brain, Cortex, Parietal lobe, Eye

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:

68
id Symbol AA change Variation ID SNP ID
1ADGRG1p.Arg38TrpVAR_026242rs121908462
2ADGRG1p.Tyr88CysVAR_026243rs121908466
3ADGRG1p.Cys91SerVAR_026244rs121908465
4ADGRG1p.Cys346SerVAR_026245rs121908463
5ADGRG1p.Arg565TrpVAR_026246rs121908464
6ADGRG1p.Arg38GlnVAR_069581rs764367185
7ADGRG1p.Trp349SerVAR_069582
8ADGRG1p.Glu496LysVAR_069583rs556518689
9ADGRG1p.Leu640ArgVAR_069584

Clinvar genetic disease variations for Polymicrogyria, Bilateral Frontoparietal:

5 (show all 21)
id Gene Variation Type Significance SNP ID Assembly Location
1ADGRG1NM_005682.6(ADGRG1): c.1426C> T (p.Arg476Ter)single nucleotide variantPathogenicrs587783652GRCh37Chr 16, 57693446: 57693446
2ADGRG1NM_005682.6(ADGRG1): c.1460T> C (p.Leu487Pro)single nucleotide variantPathogenicrs587783653GRCh37Chr 16, 57693480: 57693480
3ADGRG1NM_005682.6(ADGRG1): c.1508T> C (p.Leu503Pro)single nucleotide variantLikely pathogenicrs587783654GRCh37Chr 16, 57693528: 57693528
4ADGRG1NM_005682.6(ADGRG1): c.1533T> G (p.Tyr511Ter)single nucleotide variantPathogenicrs587783655GRCh37Chr 16, 57693553: 57693553
5ADGRG1NM_005682.6(ADGRG1): c.1868G> C (p.Trp623Ser)single nucleotide variantLikely pathogenicrs587783656GRCh37Chr 16, 57695794: 57695794
6ADGRG1NM_005682.6(ADGRG1): c.1970G> A (p.Trp657Ter)single nucleotide variantPathogenicrs587783657GRCh38Chr 16, 57663470: 57663470
7ADGRG1NM_005682.6(ADGRG1): c.265C> T (p.His89Tyr)single nucleotide variantPathogenicrs587783658GRCh37Chr 16, 57685312: 57685312
8ADGRG1NM_005682.6(ADGRG1): c.286C> T (p.Arg96Ter)single nucleotide variantPathogenicrs146278035GRCh37Chr 16, 57685333: 57685333
9ADGRG1NM_005682.6(ADGRG1): c.620+1G> Asingle nucleotide variantPathogenicrs587783660GRCh37Chr 16, 57687248: 57687248
10ADGRG1NM_005682.6(ADGRG1): c.768G> C (p.Glu256Asp)single nucleotide variantLikely pathogenicrs532188689GRCh37Chr 16, 57688045: 57688045
11ADGRG1NM_005682.6(ADGRG1): c.10C> T (p.Gln4Ter)single nucleotide variantPathogenicrs786204777GRCh37Chr 16, 57684209: 57684209
12ADGRG1NM_005682.6(ADGRG1): c.1216delC (p.Leu406Serfs)deletionPathogenicrs797045600GRCh37Chr 16, 57691333: 57691333
13ADGRG1NM_005682.6(ADGRG1): c.944_945dupTT (p.Val316Leufs)duplicationPathogenicrs797045602GRCh38Chr 16, 57655919: 57655920
14ADGRG1NM_005682.6(ADGRG1): c.1167+3G> Csingle nucleotide variantPathogenicrs587776623GRCh38Chr 16, 57656620: 57656620
15ADGRG1NM_005682.6(ADGRG1): c.621-1G> Csingle nucleotide variantPathogenicrs587776624GRCh38Chr 16, 57653985: 57653985
16ADGRG1NM_005682.6(ADGRG1): c.739_745delCAGGACC (p.Gln247Cysfs)deletionPathogenicrs587776625GRCh38Chr 16, 57654104: 57654110
17ADGRG1NM_005682.6(ADGRG1): c.112C> T (p.Arg38Trp)single nucleotide variantPathogenicrs121908462GRCh37Chr 16, 57685159: 57685159
18ADGRG1NM_005682.6(ADGRG1): c.1036T> A (p.Cys346Ser)single nucleotide variantPathogenicrs121908463GRCh37Chr 16, 57690156: 57690156
19ADGRG1NM_005682.6(ADGRG1): c.1693C> T (p.Arg565Trp)single nucleotide variantPathogenicrs121908464GRCh37Chr 16, 57695619: 57695619
20ADGRG1NM_005682.6(ADGRG1): c.272G> C (p.Cys91Ser)single nucleotide variantPathogenicrs121908465GRCh37Chr 16, 57685319: 57685319
21ADGRG1NM_005682.6(ADGRG1): 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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GO Terms for genes affiliated with Polymicrogyria, Bilateral Frontoparietal

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Sources for Polymicrogyria, Bilateral Frontoparietal

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet