MCID: PLY117
MIFTS: 30

Polymicrogyria, Bilateral Frontoparietal

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

Aliases & Classifications for Polymicrogyria, Bilateral Frontoparietal

MalaCards integrated aliases for Polymicrogyria, Bilateral Frontoparietal:

Name: Polymicrogyria, Bilateral Frontoparietal 53 71 28 13 69
Cerebellar Ataxia with Neuronal Migration Defect 53 49 71
Bfpp 53 49 71
Bilateral Frontoparietal Polymicrogyria 49 55

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive


HPO:

31
polymicrogyria, bilateral frontoparietal:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Polymicrogyria, Bilateral Frontoparietal

NIH Rare Diseases : 49 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 cerebellar ataxia with neuronal migration defect, is related to polymicrogyria, bilateral temporooccipital and polymicrogyria, and has symptoms including seizures, nystagmus and intellectual disability. An important gene associated with Polymicrogyria, Bilateral Frontoparietal is ADGRG1 (Adhesion G Protein-Coupled Receptor G1). Affiliated tissues include brain, cortex and eye.

UniProtKB/Swiss-Prot : 71 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 : 72 Bilateral frontoparietal polymicrogyria (BFPP) is a genetic disorder with autosomal recessive... more...

Description from OMIM: 606854

Related Diseases for Polymicrogyria, Bilateral Frontoparietal

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

# Related Disease Score Top Affiliating Genes
1 polymicrogyria, bilateral temporooccipital 10.2
2 polymicrogyria 10.2

Symptoms & Phenotypes for Polymicrogyria, Bilateral Frontoparietal

Symptoms via clinical synopsis from OMIM:

53
Neurologic Central Nervous System:
seizures
hyperreflexia
cerebellar hypoplasia
truncal ataxia
developmental delay
more
Muscle Soft Tissue:
increased muscle tone

Head And Neck Eyes:
nystagmus
strabismus
esotropia
exotropia
dysconjugate gaze


Clinical features from OMIM:

606854

Human phenotypes related to Polymicrogyria, Bilateral Frontoparietal:

31 (show all 17)
# Description HPO Frequency HPO Source Accession
1 seizures 31 HP:0001250
2 nystagmus 31 HP:0000639
3 intellectual disability 31 HP:0001249
4 hyperreflexia 31 HP:0001347
5 global developmental delay 31 HP:0001263
6 hypertonia 31 HP:0001276
7 babinski sign 31 HP:0003487
8 cerebellar hypoplasia 31 HP:0001321
9 esotropia 31 HP:0000565
10 exotropia 31 HP:0000577
11 broad-based gait 31 HP:0002136
12 truncal ataxia 31 HP:0002078
13 cerebral dysmyelination 31 HP:0007266
14 hypoplasia of the brainstem 31 HP:0002365
15 ankle clonus 31 HP:0011448
16 polymicrogyria, anterior to posterior gradient 31 HP:0006821
17 frontoparietal polymicrogyria 31 HP:0007095

UMLS symptoms related to Polymicrogyria, Bilateral Frontoparietal:


cerebellar signs, ataxia, truncal, abnormal pyramidal signs, seizures

Drugs & Therapeutics for Polymicrogyria, Bilateral Frontoparietal

Search Clinical Trials , NIH Clinical Center for Polymicrogyria, Bilateral Frontoparietal

Genetic Tests for Polymicrogyria, Bilateral Frontoparietal

Genetic tests related to Polymicrogyria, Bilateral Frontoparietal:

# Genetic test Affiliating Genes
1 Polymicrogyria, Bilateral Frontoparietal 28 ADGRG1

Anatomical Context for Polymicrogyria, Bilateral Frontoparietal

MalaCards organs/tissues related to Polymicrogyria, Bilateral Frontoparietal:

38
Brain, Cortex, Eye, Parietal Lobe

Publications for Polymicrogyria, Bilateral Frontoparietal

Articles related to Polymicrogyria, Bilateral Frontoparietal:

(show all 15)
# Title Authors Year
1
Bilateral Frontoparietal Polymicrogyria: A Novel GPR56 Mutation and an Unusual Phenotype. ( 25642806 )
2015
2
Bilateral frontoparietal polymicrogyria. ( 25416088 )
2015
3
Compound heterozygosity in GPR56 with bilateral frontoparietal polymicrogyria. ( 23981349 )
2013
4
A novel GPR56 mutation causes bilateral frontoparietal polymicrogyria. ( 21723461 )
2011
5
Disease-associated GPR56 mutations cause bilateral frontoparietal polymicrogyria via multiple mechanisms. ( 21349848 )
2011
6
BFPP, a phloroglucinol derivative, induces cell apoptosis in human chondrosarcoma cells through endoplasmic reticulum stress. ( 20067774 )
2010
7
GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complex. ( 20929962 )
2010
8
Bilateral frontoparietal polymicrogyria, Lennox-Gastaut syndrome, and GPR56 gene mutations. ( 19016831 )
2009
9
Bilateral frontoparietal polymicrogyria (BFPP) syndrome secondary to a 16q12.1-q21 chromosome deletion involving GPR56 gene. ( 19807741 )
2009
10
Biochemical characterization of genetic mutations of GPR56 in patients with bilateral frontoparietal polymicrogyria (BFPP). ( 18042463 )
2008
11
Three patients with severe bilateral frontoparietal polymicrogyria. ( 18410852 )
2008
12
Bilateral Frontoparietal Polymicrogyria Linked to Chromosome 16. ( 15346151 )
2003
13
Bilateral frontoparietal polymicrogyria: clinical and radiological features in 10 families with linkage to chromosome 16. ( 12730993 )
2003
14
An autosomal recessive form of bilateral frontoparietal polymicrogyria maps to chromosome 16q12.2-21. ( 11845408 )
2002
15
Bilateral frontoparietal polymicrogyria and epilepsy. ( 10734259 )
2000

Variations for Polymicrogyria, Bilateral Frontoparietal

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

71
# Symbol AA change Variation ID SNP ID
1 ADGRG1 p.Arg38Trp VAR_026242 rs121908462
2 ADGRG1 p.Tyr88Cys VAR_026243 rs121908466
3 ADGRG1 p.Cys91Ser VAR_026244 rs121908465
4 ADGRG1 p.Cys346Ser VAR_026245 rs121908463
5 ADGRG1 p.Arg565Trp VAR_026246 rs121908464
6 ADGRG1 p.Arg38Gln VAR_069581 rs764367185
7 ADGRG1 p.Trp349Ser VAR_069582
8 ADGRG1 p.Glu496Lys VAR_069583 rs556518689
9 ADGRG1 p.Leu640Arg VAR_069584

ClinVar genetic disease variations for Polymicrogyria, Bilateral Frontoparietal:

6 (show all 21)
# Gene Variation Type Significance SNP ID Assembly Location
1 ADGRG1 NM_005682.6(ADGRG1): c.265C> T (p.His89Tyr) single nucleotide variant Pathogenic rs587783658 GRCh37 Chromosome 16, 57685312: 57685312
2 ADGRG1 NM_005682.6(ADGRG1): c.286C> T (p.Arg96Ter) single nucleotide variant Pathogenic rs146278035 GRCh37 Chromosome 16, 57685333: 57685333
3 ADGRG1 NM_005682.6(ADGRG1): c.620+1G> A single nucleotide variant Pathogenic rs587783660 GRCh37 Chromosome 16, 57687248: 57687248
4 ADGRG1 NM_005682.6(ADGRG1): c.768G> C (p.Glu256Asp) single nucleotide variant Likely pathogenic rs532188689 GRCh37 Chromosome 16, 57688045: 57688045
5 ADGRG1 NM_005682.6(ADGRG1): c.1426C> T (p.Arg476Ter) single nucleotide variant Pathogenic rs587783652 GRCh37 Chromosome 16, 57693446: 57693446
6 ADGRG1 NM_005682.6(ADGRG1): c.1460T> C (p.Leu487Pro) single nucleotide variant Pathogenic rs587783653 GRCh37 Chromosome 16, 57693480: 57693480
7 ADGRG1 NM_005682.6(ADGRG1): c.1508T> C (p.Leu503Pro) single nucleotide variant Likely pathogenic rs587783654 GRCh37 Chromosome 16, 57693528: 57693528
8 ADGRG1 NM_005682.6(ADGRG1): c.1533T> G (p.Tyr511Ter) single nucleotide variant Pathogenic rs587783655 GRCh37 Chromosome 16, 57693553: 57693553
9 ADGRG1 NM_005682.6(ADGRG1): c.1868G> C (p.Trp623Ser) single nucleotide variant Likely pathogenic rs587783656 GRCh37 Chromosome 16, 57695794: 57695794
10 ADGRG1 NM_005682.6(ADGRG1): c.1970G> A (p.Trp657Ter) single nucleotide variant Pathogenic rs587783657 GRCh37 Chromosome 16, 57697382: 57697382
11 ADGRG1 NM_005682.6(ADGRG1): c.10C> T (p.Gln4Ter) single nucleotide variant Pathogenic rs786204777 GRCh37 Chromosome 16, 57684209: 57684209
12 ADGRG1 NM_005682.6(ADGRG1): c.1167+3G> C single nucleotide variant Pathogenic rs587776623 GRCh38 Chromosome 16, 57656620: 57656620
13 ADGRG1 NM_005682.6(ADGRG1): c.621-1G> C single nucleotide variant Pathogenic rs587776624 GRCh38 Chromosome 16, 57653985: 57653985
14 ADGRG1 NM_005682.6(ADGRG1): c.739_745delCAGGACC (p.Gln247Cysfs) deletion Pathogenic rs587776625 GRCh38 Chromosome 16, 57654104: 57654110
15 ADGRG1 NM_005682.6(ADGRG1): c.112C> T (p.Arg38Trp) single nucleotide variant Pathogenic rs121908462 GRCh37 Chromosome 16, 57685159: 57685159
16 ADGRG1 NM_005682.6(ADGRG1): c.1036T> A (p.Cys346Ser) single nucleotide variant Pathogenic rs121908463 GRCh37 Chromosome 16, 57690156: 57690156
17 ADGRG1 NM_005682.6(ADGRG1): c.1693C> T (p.Arg565Trp) single nucleotide variant Pathogenic/Likely pathogenic rs121908464 GRCh37 Chromosome 16, 57695619: 57695619
18 ADGRG1 NM_005682.6(ADGRG1): c.272G> C (p.Cys91Ser) single nucleotide variant Pathogenic rs121908465 GRCh37 Chromosome 16, 57685319: 57685319
19 ADGRG1 NM_005682.6(ADGRG1): c.263A> G (p.Tyr88Cys) single nucleotide variant Pathogenic rs121908466 GRCh37 Chromosome 16, 57685310: 57685310
20 ADGRG1 NM_005682.6(ADGRG1): c.944_945dupTT (p.Val316Leufs) duplication Pathogenic rs797045602 GRCh37 Chromosome 16, 57689831: 57689832
21 ADGRG1 NM_005682.6(ADGRG1): c.1216delC (p.Leu406Serfs) deletion Pathogenic rs797045600 GRCh38 Chromosome 16, 57657421: 57657421

Expression for Polymicrogyria, Bilateral Frontoparietal

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

Pathways for Polymicrogyria, Bilateral Frontoparietal

GO Terms for Polymicrogyria, Bilateral Frontoparietal

Sources for Polymicrogyria, Bilateral Frontoparietal

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