BPPR
MCID: PLY167
MIFTS: 20

Polymicrogyria, Bilateral Perisylvian, Autosomal Recessive (BPPR)

Categories: Genetic diseases

Aliases & Classifications for Polymicrogyria, Bilateral Perisylvian, Autosomal Recessive

MalaCards integrated aliases for Polymicrogyria, Bilateral Perisylvian, Autosomal Recessive:

Name: Polymicrogyria, Bilateral Perisylvian, Autosomal Recessive 57 72 29 6 39 70
Bppr 57 72
Pmgr 57 72
Polymicrogyria, Bilateral Perisylvian 57

Characteristics:

HPO:

31
polymicrogyria, bilateral perisylvian, autosomal recessive:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:



External Ids:

OMIM® 57 615752
MeSH 44 D054220
UMLS 70 C3810405

Summaries for Polymicrogyria, Bilateral Perisylvian, Autosomal Recessive

UniProtKB/Swiss-Prot : 72 Polymicrogyria, bilateral perisylvian, autosomal recessive: A form of polymicrogyria, a malformation of the cortex in which the brain surface is irregular and characterized by an excessive number of small gyri with abnormal lamination. BPPR is characterized by strikingly restricted polymicrogyria limited to the cortex surrounding the Sylvian fissure. Affected individuals have intellectual and language difficulty and seizures, but no motor disability. Polymicrogyria is a heterogeneous disorder, considered to be the result of post-migratory abnormal cortical organization.

MalaCards based summary : Polymicrogyria, Bilateral Perisylvian, Autosomal Recessive, also known as bppr, is related to polymicrogyria, bilateral perisylvian, x-linked and polymicrogyria with or without vascular-type ehlers-danlos syndrome. An important gene associated with Polymicrogyria, Bilateral Perisylvian, Autosomal Recessive is ADGRG1 (Adhesion G Protein-Coupled Receptor G1). Affiliated tissues include cortex, and related phenotypes are intellectual disability and language impairment

OMIM® : 57 Autosomal recessive bilateral perisylvian polymicrogyria is characterized by strikingly restricted polymicrogyria limited to the cortex surrounding the Sylvian fissure. Affected individuals have intellectual and language difficulty and seizures, but no motor disability (Bae et al., 2014). (615752) (Updated 05-Apr-2021)

Related Diseases for Polymicrogyria, Bilateral Perisylvian, Autosomal Recessive

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

# Related Disease Score Top Affiliating Genes
1 polymicrogyria, bilateral perisylvian, x-linked 11.6
2 polymicrogyria with or without vascular-type ehlers-danlos syndrome 10.1
3 polymicrogyria 10.1

Symptoms & Phenotypes for Polymicrogyria, Bilateral Perisylvian, Autosomal Recessive

Human phenotypes related to Polymicrogyria, Bilateral Perisylvian, Autosomal Recessive:

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# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 language impairment 31 HP:0002463
3 perisylvian polymicrogyria 31 HP:0012650
4 enlarged sylvian cistern 31 HP:0100952
5 seizure 31 HP:0001250

Clinical features from OMIM®:

615752 (Updated 05-Apr-2021)

Drugs & Therapeutics for Polymicrogyria, Bilateral Perisylvian, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Polymicrogyria, Bilateral Perisylvian, Autosomal Recessive

Genetic Tests for Polymicrogyria, Bilateral Perisylvian, Autosomal Recessive

Genetic tests related to Polymicrogyria, Bilateral Perisylvian, Autosomal Recessive:

# Genetic test Affiliating Genes
1 Polymicrogyria, Bilateral Perisylvian, Autosomal Recessive 29 ADGRG1

Anatomical Context for Polymicrogyria, Bilateral Perisylvian, Autosomal Recessive

MalaCards organs/tissues related to Polymicrogyria, Bilateral Perisylvian, Autosomal Recessive:

40
Cortex

Publications for Polymicrogyria, Bilateral Perisylvian, Autosomal Recessive

Articles related to Polymicrogyria, Bilateral Perisylvian, Autosomal Recessive:

# Title Authors PMID Year
1
Evolutionarily dynamic alternative splicing of GPR56 regulates regional cerebral cortical patterning. 57 6
24531968 2014
2
Pneumonia risks in bedridden patients receiving oral care and their screening tool: Malnutrition and urinary tract infection-induced inflammation. 61
29380508 2018
3
Selectivity of azine ligands toward lanthanide(III)/actinide(III) differentiation: a relativistic DFT based rationalization. 61
24749559 2014
4
Controlled fabrication and optoelectrical properties of metallosupramolecular films based on ruthenium(II) phthalocyanines and 4,4'-bipyridine covalently anchored on inorganic substrates. 61
23570368 2013

Variations for Polymicrogyria, Bilateral Perisylvian, Autosomal Recessive

ClinVar genetic disease variations for Polymicrogyria, Bilateral Perisylvian, Autosomal Recessive:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ADGRG1 NM_201525.4(ADGRG1):c.-36+10587_-36+10601del Microsatellite Pathogenic 127079 rs587777312 GRCh37: 16:57673286-57673300
GRCh38: 16:57639374-57639388
2 ADGRG1 NM_201525.4(ADGRG1):c.1408C>T (p.Arg470Ter) SNV Pathogenic 158618 rs587783652 GRCh37: 16:57693446-57693446
GRCh38: 16:57659534-57659534
3 ADGRG1 NM_201525.4(ADGRG1):c.26C>T (p.Thr9Met) SNV Uncertain significance 585950 rs200241873 GRCh37: 16:57684225-57684225
GRCh38: 16:57650313-57650313
4 ADGRG1 NM_201525.4(ADGRG1):c.620+11C>T SNV Uncertain significance 1034203 GRCh37: 16:57687258-57687258
GRCh38: 16:57653346-57653346
5 ADGRG1 NM_201525.4(ADGRG1):c.1561C>G (p.Pro521Ala) SNV Uncertain significance 988720 GRCh37: 16:57694685-57694685
GRCh38: 16:57660773-57660773
6 ADGRG1 NM_201525.4(ADGRG1):c.843_844delinsGC (p.Ser281_Gly282delinsArgArg) Indel Uncertain significance 372698 rs1057517931 GRCh37: 16:57689385-57689386
GRCh38: 16:57655473-57655474

Expression for Polymicrogyria, Bilateral Perisylvian, Autosomal Recessive

Search GEO for disease gene expression data for Polymicrogyria, Bilateral Perisylvian, Autosomal Recessive.

Pathways for Polymicrogyria, Bilateral Perisylvian, Autosomal Recessive

GO Terms for Polymicrogyria, Bilateral Perisylvian, Autosomal Recessive

Sources for Polymicrogyria, Bilateral Perisylvian, Autosomal Recessive

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
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44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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