MCID: PLY167
MIFTS: 17

Polymicrogyria, Bilateral Perisylvian, Autosomal Recessive

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 75 29 6 40 73
Bppr 57 75
Pmgr 57 75
Polymicrogyria, Bilateral Perisylvian 57

Characteristics:

HPO:

32
polymicrogyria, bilateral perisylvian, autosomal recessive:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Polymicrogyria, Bilateral Perisylvian, Autosomal Recessive

UniProtKB/Swiss-Prot : 75 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. An important gene associated with Polymicrogyria, Bilateral Perisylvian, Autosomal Recessive is ADGRG1 (Adhesion G Protein-Coupled Receptor G1). Affiliated tissues include cortex and brain, and related phenotypes are intellectual disability and seizures

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)

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 12.4
2 polymicrogyria 10.0

Symptoms & Phenotypes for Polymicrogyria, Bilateral Perisylvian, Autosomal Recessive

Clinical features from OMIM:

615752

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

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# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 seizures 32 HP:0001250
3 language impairment 32 HP:0002463
4 perisylvian polymicrogyria 32 HP:0012650

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:

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Cortex, Brain

Publications for Polymicrogyria, Bilateral Perisylvian, Autosomal Recessive

Variations for Polymicrogyria, Bilateral Perisylvian, Autosomal Recessive

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ADGRG1 NM_005682.6(ADGRG1): c.-153-2202_-153-2188delCAACGGTTGCCAGGG deletion Pathogenic rs587777312 GRCh38 Chromosome 16, 57639389: 57639403
2 ADGRG1 NM_005682.6(ADGRG1): c.-153-2202_-153-2188delCAACGGTTGCCAGGG deletion Pathogenic rs587777312 GRCh37 Chromosome 16, 57673301: 57673315

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
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45 MESH via Orphanet
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49 NCI
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55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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