BFPP
MCID: PLY117
MIFTS: 26

Polymicrogyria, Bilateral Frontoparietal (BFPP) 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 52 70 12 68
Bilateral Frontoparietal Polymicrogyria 48 54 27
 
Cerebellar Ataxia with Neuronal Migration Defect 48 70
Bfpp 48 70

Characteristics:

HPO:

64
polymicrogyria, bilateral frontoparietal:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 606854
Orphanet54 ORPHA101070
ICD10 via Orphanet31 Q04.3
MedGen37 C1847352
MeSH39 D054220

Summaries for Polymicrogyria, Bilateral Frontoparietal

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NIH Rare Diseases:48 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, symmetric or asymmetric and polymicrogyria, and has symptoms including seizures, seizures and abnormal pyramidal signs. 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:70 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:71 Bilateral frontoparietal polymicrogyria (BFPP) is a genetic disorder with autosomal recessive... more...

Description from OMIM:52 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
1polymicrogyria, symmetric or asymmetric11.1
2polymicrogyria10.2

Symptoms & Phenotypes for Polymicrogyria, Bilateral Frontoparietal

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Symptoms by clinical synopsis from OMIM:

606854

Clinical features from OMIM:

606854

Human phenotypes related to Polymicrogyria, Bilateral Frontoparietal:

 64 (show all 17)
id Description HPO Frequency HPO Source Accession
1 esotropia64 HP:0000565
2 exotropia64 HP:0000577
3 nystagmus64 HP:0000639
4 intellectual disability64 HP:0001249
5 seizures64 HP:0001250
6 global developmental delay64 HP:0001263
7 hypertonia64 HP:0001276
8 cerebellar hypoplasia64 HP:0001321
9 hyperreflexia64 HP:0001347
10 truncal ataxia64 HP:0002078
11 broad-based gait64 HP:0002136
12 hypoplasia of the brainstem64 HP:0002365
13 babinski sign64 HP:0003487
14 polymicrogyria, anterior to posterior gradient64 HP:0006821
15 frontoparietal polymicrogyria64 HP:0007095
16 cerebral dysmyelination64 HP:0007266
17 ankle clonus64 HP:0011448

UMLS symptoms related to Polymicrogyria, Bilateral Frontoparietal:


seizures, abnormal pyramidal signs, 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 Frontoparietal27

Anatomical Context for Polymicrogyria, Bilateral Frontoparietal

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MalaCards organs/tissues related to Polymicrogyria, Bilateral Frontoparietal:

36
Brain, Cortex, Parietal lobe, Eye

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:

70
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)SNVPathogenicrs587783652GRCh37Chr 16, 57693446: 57693446
2ADGRG1NM_ 005682.6(ADGRG1): c.1460T> C (p.Leu487Pro)SNVPathogenicrs587783653GRCh37Chr 16, 57693480: 57693480
3ADGRG1NM_ 005682.6(ADGRG1): c.1508T> C (p.Leu503Pro)SNVLikely pathogenicrs587783654GRCh37Chr 16, 57693528: 57693528
4ADGRG1NM_ 005682.6(ADGRG1): c.1533T> G (p.Tyr511Ter)SNVPathogenicrs587783655GRCh37Chr 16, 57693553: 57693553
5ADGRG1NM_ 005682.6(ADGRG1): c.1868G> C (p.Trp623Ser)SNVLikely pathogenicrs587783656GRCh38Chr 16, 57661882: 57661882
6ADGRG1NM_ 005682.6(ADGRG1): c.1970G> A (p.Trp657Ter)SNVPathogenicrs587783657GRCh37Chr 16, 57697382: 57697382
7ADGRG1NM_ 005682.6(ADGRG1): c.265C> T (p.His89Tyr)SNVPathogenicrs587783658GRCh37Chr 16, 57685312: 57685312
8ADGRG1NM_ 005682.6(ADGRG1): c.286C> T (p.Arg96Ter)SNVPathogenicrs146278035GRCh38Chr 16, 57651421: 57651421
9ADGRG1NM_ 005682.6(ADGRG1): c.620+1G> ASNVPathogenicrs587783660GRCh38Chr 16, 57653336: 57653336
10ADGRG1NM_ 005682.6(ADGRG1): c.768G> C (p.Glu256Asp)SNVLikely pathogenicrs532188689GRCh38Chr 16, 57654133: 57654133
11ADGRG1NM_ 005682.6(ADGRG1): c.10C> T (p.Gln4Ter)SNVPathogenicrs786204777GRCh37Chr 16, 57684209: 57684209
12ADGRG1NM_ 005682.6(ADGRG1): c.1216delC (p.Leu406Serfs)deletionPathogenicrs797045600GRCh38Chr 16, 57657421: 57657421
13ADGRG1NM_ 005682.6(ADGRG1): c.944_ 945dupTT (p.Val316Leufs)duplicationPathogenicrs797045602GRCh38Chr 16, 57655919: 57655920
14ADGRG1NM_ 005682.6(ADGRG1): c.1167+3G> CSNVPathogenicrs587776623GRCh38Chr 16, 57656620: 57656620
15ADGRG1NM_ 005682.6(ADGRG1): c.621-1G> CSNVPathogenicrs587776624GRCh38Chr 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)SNVPathogenicrs121908462GRCh37Chr 16, 57685159: 57685159
18ADGRG1NM_ 005682.6(ADGRG1): c.1036T> A (p.Cys346Ser)SNVPathogenicrs121908463GRCh37Chr 16, 57690156: 57690156
19ADGRG1NM_ 005682.6(ADGRG1): c.1693C> T (p.Arg565Trp)SNVPathogenic/ Likely pathogenicrs121908464GRCh37Chr 16, 57695619: 57695619
20ADGRG1NM_ 005682.6(ADGRG1): c.272G> C (p.Cys91Ser)SNVPathogenicrs121908465GRCh37Chr 16, 57685319: 57685319
21ADGRG1NM_ 005682.6(ADGRG1): c.263A> G (p.Tyr88Cys)SNVPathogenicrs121908466GRCh37Chr 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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet