MCID: PLY117
MIFTS: 29

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 57 75 29 13 6 40 73
Cerebellar Ataxia with Neuronal Migration Defect 57 53 75
Bfpp 57 53 75
Bilateral Frontoparietal Polymicrogyria 53 59

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
polymicrogyria, bilateral frontoparietal:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Polymicrogyria, Bilateral Frontoparietal

NIH Rare Diseases : 53 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.

MalaCards based summary : Polymicrogyria, Bilateral Frontoparietal, also known as cerebellar ataxia with neuronal migration defect, is related to polymicrogyria, and has symptoms including seizures, abnormal pyramidal signs and ataxia, truncal. An important gene associated with Polymicrogyria, Bilateral Frontoparietal is ADGRG1 (Adhesion G Protein-Coupled Receptor G1). Affiliated tissues include brain, cortex and parietal lobe, and related phenotypes are esotropia and exotropia

UniProtKB/Swiss-Prot : 75 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 : 76 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 10.0

Symptoms & Phenotypes for Polymicrogyria, Bilateral Frontoparietal

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
nystagmus
strabismus
esotropia
exotropia
dysconjugate gaze

Muscle Soft Tissue:
increased muscle tone

Neurologic Central Nervous System:
seizures
hyperreflexia
cerebellar hypoplasia
truncal ataxia
ankle clonus
more

Clinical features from OMIM:

606854

Human phenotypes related to Polymicrogyria, Bilateral Frontoparietal:

32 (show all 17)
# Description HPO Frequency HPO Source Accession
1 esotropia 32 HP:0000565
2 exotropia 32 HP:0000577
3 nystagmus 32 HP:0000639
4 intellectual disability 32 HP:0001249
5 seizures 32 HP:0001250
6 global developmental delay 32 HP:0001263
7 hypertonia 32 HP:0001276
8 cerebellar hypoplasia 32 HP:0001321
9 hyperreflexia 32 HP:0001347
10 truncal ataxia 32 HP:0002078
11 broad-based gait 32 HP:0002136
12 hypoplasia of the brainstem 32 HP:0002365
13 babinski sign 32 HP:0003487
14 polymicrogyria, anterior to posterior gradient 32 HP:0006821
15 frontoparietal polymicrogyria 32 HP:0007095
16 cerebral dysmyelination 32 HP:0007266
17 ankle clonus 32 HP:0011448

UMLS symptoms related to Polymicrogyria, Bilateral Frontoparietal:


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

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 29 ADGRG1

Anatomical Context for Polymicrogyria, Bilateral Frontoparietal

MalaCards organs/tissues related to Polymicrogyria, Bilateral Frontoparietal:

41
Brain, Cortex, Parietal Lobe, Eye

Publications for Polymicrogyria, Bilateral Frontoparietal

Articles related to Polymicrogyria, Bilateral Frontoparietal:

(show all 15)
# Title Authors Year
1
Three Mutations in the Bilateral Frontoparietal Polymicrogyria Gene <i>GPR56</i> in Pakistani Intellectual Disability Families. ( 29707406 )
2018
2
Bilateral frontoparietal polymicrogyria. ( 25416088 )
2015
3
Bilateral Frontoparietal Polymicrogyria: A Novel GPR56 Mutation and an Unusual Phenotype. ( 25642806 )
2015
4
Compound heterozygosity in GPR56 with bilateral frontoparietal polymicrogyria. ( 23981349 )
2013
5
A novel GPR56 mutation causes bilateral frontoparietal polymicrogyria. ( 21723461 )
2011
6
Disease-associated GPR56 mutations cause bilateral frontoparietal polymicrogyria via multiple mechanisms. ( 21349848 )
2011
7
GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complex. ( 20929962 )
2010
8
Bilateral frontoparietal polymicrogyria (BFPP) syndrome secondary to a 16q12.1-q21 chromosome deletion involving GPR56 gene. ( 19807741 )
2009
9
Bilateral frontoparietal polymicrogyria, Lennox-Gastaut syndrome, and GPR56 gene mutations. ( 19016831 )
2009
10
Three patients with severe bilateral frontoparietal polymicrogyria. ( 18410852 )
2008
11
Biochemical characterization of genetic mutations of GPR56 in patients with bilateral frontoparietal polymicrogyria (BFPP). ( 18042463 )
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:

75
# 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 top 50) (show all 64)
# Gene Variation Type Significance SNP ID Assembly Location
1 ADGRG1 NM_005682.6(ADGRG1): c.1167+3G> C single nucleotide variant Pathogenic rs587776623 GRCh38 Chromosome 16, 57656620: 57656620
2 ADGRG1 NM_005682.6(ADGRG1): c.1167+3G> C single nucleotide variant Pathogenic rs587776623 GRCh37 Chromosome 16, 57690532: 57690532
3 ADGRG1 NM_005682.6(ADGRG1): c.621-1G> C single nucleotide variant Pathogenic rs587776624 GRCh38 Chromosome 16, 57653985: 57653985
4 ADGRG1 NM_005682.6(ADGRG1): c.621-1G> C single nucleotide variant Pathogenic rs587776624 GRCh37 Chromosome 16, 57687897: 57687897
5 ADGRG1 NM_005682.6(ADGRG1): c.739_745delCAGGACC (p.Gln247Cysfs) deletion Pathogenic rs587776625 GRCh38 Chromosome 16, 57654104: 57654110
6 ADGRG1 NM_005682.6(ADGRG1): c.739_745delCAGGACC (p.Gln247Cysfs) deletion Pathogenic rs587776625 GRCh37 Chromosome 16, 57688016: 57688022
7 ADGRG1 NM_005682.6(ADGRG1): c.112C> T (p.Arg38Trp) single nucleotide variant Pathogenic rs121908462 GRCh37 Chromosome 16, 57685159: 57685159
8 ADGRG1 NM_005682.6(ADGRG1): c.112C> T (p.Arg38Trp) single nucleotide variant Pathogenic rs121908462 GRCh38 Chromosome 16, 57651247: 57651247
9 ADGRG1 NM_005682.6(ADGRG1): c.1036T> A (p.Cys346Ser) single nucleotide variant Pathogenic rs121908463 GRCh37 Chromosome 16, 57690156: 57690156
10 ADGRG1 NM_005682.6(ADGRG1): c.1036T> A (p.Cys346Ser) single nucleotide variant Pathogenic rs121908463 GRCh38 Chromosome 16, 57656244: 57656244
11 ADGRG1 NM_005682.6(ADGRG1): c.1693C> T (p.Arg565Trp) single nucleotide variant Likely pathogenic rs121908464 GRCh37 Chromosome 16, 57695619: 57695619
12 ADGRG1 NM_005682.6(ADGRG1): c.1693C> T (p.Arg565Trp) single nucleotide variant Likely pathogenic rs121908464 GRCh38 Chromosome 16, 57661707: 57661707
13 ADGRG1 NM_005682.6(ADGRG1): c.272G> C (p.Cys91Ser) single nucleotide variant Pathogenic rs121908465 GRCh37 Chromosome 16, 57685319: 57685319
14 ADGRG1 NM_005682.6(ADGRG1): c.272G> C (p.Cys91Ser) single nucleotide variant Pathogenic rs121908465 GRCh38 Chromosome 16, 57651407: 57651407
15 ADGRG1 NM_005682.6(ADGRG1): c.263A> G (p.Tyr88Cys) single nucleotide variant Pathogenic rs121908466 GRCh37 Chromosome 16, 57685310: 57685310
16 ADGRG1 NM_005682.6(ADGRG1): c.263A> G (p.Tyr88Cys) single nucleotide variant Pathogenic rs121908466 GRCh38 Chromosome 16, 57651398: 57651398
17 ADGRG1 NM_005682.6(ADGRG1): c.-11G> A single nucleotide variant Uncertain significance rs112775979 GRCh37 Chromosome 16, 57684189: 57684189
18 ADGRG1 NM_005682.6(ADGRG1): c.-11G> A single nucleotide variant Uncertain significance rs112775979 GRCh38 Chromosome 16, 57650277: 57650277
19 ADGRG1 NM_005682.6(ADGRG1): c.64+15G> T single nucleotide variant Uncertain significance rs200303272 GRCh37 Chromosome 16, 57684278: 57684278
20 ADGRG1 NM_005682.6(ADGRG1): c.64+15G> T single nucleotide variant Uncertain significance rs200303272 GRCh38 Chromosome 16, 57650366: 57650366
21 ADGRG1 NM_005682.6(ADGRG1): c.265C> T (p.His89Tyr) single nucleotide variant Pathogenic rs587783658 GRCh37 Chromosome 16, 57685312: 57685312
22 ADGRG1 NM_005682.6(ADGRG1): c.265C> T (p.His89Tyr) single nucleotide variant Pathogenic rs587783658 GRCh38 Chromosome 16, 57651400: 57651400
23 ADGRG1 NM_005682.6(ADGRG1): c.286C> T (p.Arg96Ter) single nucleotide variant Pathogenic rs146278035 GRCh37 Chromosome 16, 57685333: 57685333
24 ADGRG1 NM_005682.6(ADGRG1): c.286C> T (p.Arg96Ter) single nucleotide variant Pathogenic rs146278035 GRCh38 Chromosome 16, 57651421: 57651421
25 ADGRG1 NM_005682.6(ADGRG1): c.287G> A (p.Arg96Gln) single nucleotide variant Uncertain significance rs587783659 GRCh37 Chromosome 16, 57685334: 57685334
26 ADGRG1 NM_005682.6(ADGRG1): c.287G> A (p.Arg96Gln) single nucleotide variant Uncertain significance rs587783659 GRCh38 Chromosome 16, 57651422: 57651422
27 ADGRG1 NM_005682.6(ADGRG1): c.401C> T (p.Pro134Leu) single nucleotide variant Uncertain significance rs138344683 GRCh37 Chromosome 16, 57685448: 57685448
28 ADGRG1 NM_005682.6(ADGRG1): c.401C> T (p.Pro134Leu) single nucleotide variant Uncertain significance rs138344683 GRCh38 Chromosome 16, 57651536: 57651536
29 ADGRG1 NM_005682.6(ADGRG1): c.612C> T (p.Pro204=) single nucleotide variant Conflicting interpretations of pathogenicity rs147495708 GRCh37 Chromosome 16, 57687239: 57687239
30 ADGRG1 NM_005682.6(ADGRG1): c.612C> T (p.Pro204=) single nucleotide variant Conflicting interpretations of pathogenicity rs147495708 GRCh38 Chromosome 16, 57653327: 57653327
31 ADGRG1 NM_005682.6(ADGRG1): c.620+1G> A single nucleotide variant Pathogenic rs587783660 GRCh37 Chromosome 16, 57687248: 57687248
32 ADGRG1 NM_005682.6(ADGRG1): c.620+1G> A single nucleotide variant Pathogenic rs587783660 GRCh38 Chromosome 16, 57653336: 57653336
33 ADGRG1 NM_005682.6(ADGRG1): c.761G> A (p.Arg254Gln) single nucleotide variant Uncertain significance rs145001300 GRCh37 Chromosome 16, 57688038: 57688038
34 ADGRG1 NM_005682.6(ADGRG1): c.761G> A (p.Arg254Gln) single nucleotide variant Uncertain significance rs145001300 GRCh38 Chromosome 16, 57654126: 57654126
35 ADGRG1 NM_005682.6(ADGRG1): c.768G> C (p.Glu256Asp) single nucleotide variant Likely pathogenic rs532188689 GRCh37 Chromosome 16, 57688045: 57688045
36 ADGRG1 NM_005682.6(ADGRG1): c.768G> C (p.Glu256Asp) single nucleotide variant Likely pathogenic rs532188689 GRCh38 Chromosome 16, 57654133: 57654133
37 ADGRG1 NM_005682.6(ADGRG1): c.900G> C (p.Gln300His) single nucleotide variant Uncertain significance rs587783661 GRCh37 Chromosome 16, 57689442: 57689442
38 ADGRG1 NM_005682.6(ADGRG1): c.900G> C (p.Gln300His) single nucleotide variant Uncertain significance rs587783661 GRCh38 Chromosome 16, 57655530: 57655530
39 ADGRG1 NM_005682.6(ADGRG1): c.1048G> A (p.Val350Ile) single nucleotide variant Uncertain significance rs587783649 GRCh37 Chromosome 16, 57690168: 57690168
40 ADGRG1 NM_005682.6(ADGRG1): c.1048G> A (p.Val350Ile) single nucleotide variant Uncertain significance rs587783649 GRCh38 Chromosome 16, 57656256: 57656256
41 ADGRG1 NM_005682.6(ADGRG1): c.1063+9G> C single nucleotide variant Uncertain significance rs587783650 GRCh37 Chromosome 16, 57690192: 57690192
42 ADGRG1 NM_005682.6(ADGRG1): c.1063+9G> C single nucleotide variant Uncertain significance rs587783650 GRCh38 Chromosome 16, 57656280: 57656280
43 ADGRG1 NM_005682.6(ADGRG1): c.1246C> T (p.Leu416=) single nucleotide variant Uncertain significance rs587783651 GRCh37 Chromosome 16, 57691363: 57691363
44 ADGRG1 NM_005682.6(ADGRG1): c.1246C> T (p.Leu416=) single nucleotide variant Uncertain significance rs587783651 GRCh38 Chromosome 16, 57657451: 57657451
45 ADGRG1 NM_005682.6(ADGRG1): c.1426C> T (p.Arg476Ter) single nucleotide variant Pathogenic rs587783652 GRCh37 Chromosome 16, 57693446: 57693446
46 ADGRG1 NM_005682.6(ADGRG1): c.1426C> T (p.Arg476Ter) single nucleotide variant Pathogenic rs587783652 GRCh38 Chromosome 16, 57659534: 57659534
47 ADGRG1 NM_005682.6(ADGRG1): c.1460T> C (p.Leu487Pro) single nucleotide variant Pathogenic rs587783653 GRCh37 Chromosome 16, 57693480: 57693480
48 ADGRG1 NM_005682.6(ADGRG1): c.1460T> C (p.Leu487Pro) single nucleotide variant Pathogenic rs587783653 GRCh38 Chromosome 16, 57659568: 57659568
49 ADGRG1 NM_005682.6(ADGRG1): c.1508T> C (p.Leu503Pro) single nucleotide variant Likely pathogenic rs587783654 GRCh37 Chromosome 16, 57693528: 57693528
50 ADGRG1 NM_005682.6(ADGRG1): c.1508T> C (p.Leu503Pro) single nucleotide variant Likely pathogenic rs587783654 GRCh38 Chromosome 16, 57659616: 57659616

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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