BFPP
MCID: PLY117
MIFTS: 39

Polymicrogyria, Bilateral Frontoparietal (BFPP)

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

Aliases & Classifications for Polymicrogyria, Bilateral Frontoparietal

MalaCards integrated aliases for Polymicrogyria, Bilateral Frontoparietal:

Name: Polymicrogyria, Bilateral Frontoparietal 57 72 29 13 6 39 70
Cerebellar Ataxia with Neuronal Migration Defect 57 20 72
Bfpp 57 20 72
Bilateral Frontoparietal Polymicrogyria 20 58

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive


HPO:

31
polymicrogyria, bilateral frontoparietal:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for Polymicrogyria, Bilateral Frontoparietal

GARD : 20 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 autosomal recessive disease and lennox-gastaut syndrome, and has symptoms including seizures, ataxia, truncal and abnormal pyramidal signs. An important gene associated with Polymicrogyria, Bilateral Frontoparietal is ADGRG1 (Adhesion G Protein-Coupled Receptor G1). Affiliated tissues include cortex, brain and pons, and related phenotypes are motor delay and ventriculomegaly

UniProtKB/Swiss-Prot : 72 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 : 73 Bilateral frontoparietal polymicrogyria is a genetic disorder with autosomal recessive inheritance that... more...

More information 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:

(show all 19)
# Related Disease Score Top Affiliating Genes
1 autosomal recessive disease 10.3
2 lennox-gastaut syndrome 10.2
3 seizure disorder 10.2
4 bilateral polymicrogyria 10.2
5 alacrima, achalasia, and mental retardation syndrome 10.1
6 cortical dysplasia, complex, with other brain malformations 10 10.1
7 west syndrome 10.1
8 lissencephaly 10.1
9 walker-warburg syndrome 10.1
10 cerebellar hypoplasia 10.1
11 monocular esotropia 10.1
12 microcephaly 10.1
13 alternating exotropia 10.1
14 exotropia 10.1
15 quadriplegia 10.1
16 esotropia 10.1
17 polymicrogyria with or without vascular-type ehlers-danlos syndrome 10.1
18 polymicrogyria 10.1
19 chondrosarcoma 9.9

Graphical network of the top 20 diseases related to Polymicrogyria, Bilateral Frontoparietal:



Diseases related to Polymicrogyria, Bilateral Frontoparietal

Symptoms & Phenotypes for Polymicrogyria, Bilateral Frontoparietal

Human phenotypes related to Polymicrogyria, Bilateral Frontoparietal:

58 31 (show all 39)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 motor delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001270
2 ventriculomegaly 58 31 very rare (1%) Very frequent (99-80%) HP:0002119
3 cortical dysplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002539
4 cerebral dysmyelination 58 31 hallmark (90%) Very frequent (99-80%) HP:0007266
5 cerebellar dysplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0007033
6 abnormal pyramidal sign 58 31 frequent (33%) Frequent (79-30%) HP:0007256
7 global developmental delay 58 31 very rare (1%) Frequent (79-30%) HP:0001263
8 intellectual disability, severe 58 31 frequent (33%) Frequent (79-30%) HP:0010864
9 gait imbalance 58 31 frequent (33%) Frequent (79-30%) HP:0002141
10 cerebellar vermis hypoplasia 58 31 frequent (33%) Frequent (79-30%) HP:0001320
11 hypoplasia of the pons 58 31 very rare (1%) Frequent (79-30%) HP:0012110
12 esotropia 58 31 very rare (1%) Frequent (79-30%) HP:0000565
13 language impairment 58 31 frequent (33%) Frequent (79-30%) HP:0002463
14 bilateral tonic-clonic seizure with generalized onset 31 frequent (33%) HP:0025190
15 microcephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000252
16 hypoplasia of the brainstem 58 31 occasional (7.5%) Occasional (29-5%) HP:0002365
17 atonic seizure 58 31 occasional (7.5%) Occasional (29-5%) HP:0010819
18 typical absence seizure 58 31 occasional (7.5%) Occasional (29-5%) HP:0011147
19 increased head circumference 58 31 occasional (7.5%) Occasional (29-5%) HP:0040194
20 generalized myoclonic seizure 31 occasional (7.5%) HP:0002123
21 intellectual disability 58 31 very rare (1%) Very frequent (99-80%) HP:0001249
22 hypertonia 31 very rare (1%) HP:0001276
23 dysmetria 31 very rare (1%) HP:0001310
24 truncal ataxia 31 very rare (1%) HP:0002078
25 seizure 31 very rare (1%) HP:0001250
26 frontal polymicrogyria 31 very rare (1%) HP:0006821
27 seizures 58 Very frequent (99-80%)
28 hyperreflexia 31 HP:0001347
29 nystagmus 31 HP:0000639
30 strabismus 58 Occasional (29-5%)
31 generalized myoclonic seizures 58 Occasional (29-5%)
32 cerebellar hypoplasia 31 HP:0001321
33 abnormal cerebellum morphology 58 Frequent (79-30%)
34 broad-based gait 31 HP:0002136
35 babinski sign 31 HP:0003487
36 generalized tonic-clonic seizures without focal onset 58 Frequent (79-30%)
37 ankle clonus 31 HP:0011448
38 exotropia 31 HP:0000577
39 frontoparietal polymicrogyria 31 HP:0007095

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
seizures
hyperreflexia
cerebellar hypoplasia
ankle clonus
truncal ataxia
more
Muscle Soft Tissue:
increased muscle tone

Head And Neck Eyes:
nystagmus
strabismus
esotropia
exotropia
dysconjugate gaze

Clinical features from OMIM®:

606854 (Updated 05-Apr-2021)

UMLS symptoms related to Polymicrogyria, Bilateral Frontoparietal:


seizures; ataxia, truncal; abnormal pyramidal signs; 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:

40
Cortex, Brain, Pons, Cerebellum

Publications for Polymicrogyria, Bilateral Frontoparietal

Articles related to Polymicrogyria, Bilateral Frontoparietal:

(show all 40)
# Title Authors PMID Year
1
G protein-coupled receptor-dependent development of human frontal cortex. 61 6 57
15044805 2004
2
Genotype-phenotype analysis of human frontoparietal polymicrogyria syndromes. 61 57
16240336 2005
3
Bilateral frontoparietal polymicrogyria: clinical and radiological features in 10 families with linkage to chromosome 16. 61 57
12730993 2003
4
An autosomal recessive form of bilateral frontoparietal polymicrogyria maps to chromosome 16q12.2-21. 57 61
11845408 2002
5
Genetics of the polymicrogyria syndromes. 57
15863665 2005
6
A new autosomal recessive syndrome of pachygyria. 57
9147882 1996
7
Ataxia, developmental delay and an extensive neuronal migration abnormality in 2 siblings. 57
2290486 1990
8
Rapid molecular detection of airway pathogens in lung transplant recipients. 61
33523538 2021
9
An index framework founded on the future profit potential of female beef cattle to aid the identification of candidates for culling. 61
33047124 2020
10
Evaluation of the BioFire FilmArray Pneumonia Panel for Detection of Viral and Bacterial Pathogens in Lower Respiratory Tract Specimens in the Setting of a Tertiary Care Academic Medical Center. 61
32321782 2020
11
Overlap of polymicrogyria, hydrocephalus, and Joubert syndrome in a family with novel truncating mutations in ADGRG1/GPR56 and KIAA0556. 61
30982090 2019
12
Barefoot plantar pressure measurement in Chronic Exertional Compartment Syndrome. 61
29702369 2018
13
Three Mutations in the Bilateral Frontoparietal Polymicrogyria Gene GPR56 in Pakistani Intellectual Disability Families. 61
29707406 2018
14
GPR56 homozygous nonsense mutation p.R271* associated with phenotypic variability in bilateral frontoparietal polymicrogyria. 61
30511534 2018
15
Crucial Effect of Calibration Methods on the Association Between Central Pulsatile Indices and Coronary Atherosclerosis. 61
27633555 2017
16
Heparin interacts with the adhesion GPCR GPR56, reduces receptor shedding, and promotes cell adhesion and motility. 61
27068534 2016
17
Bilateral frontoparietal polymicrogyria: a novel GPR56 mutation and an unusual phenotype. 61
25642806 2015
18
The adhesion G protein-coupled receptor GPR56 is a cell-autonomous regulator of oligodendrocyte development. 61
25607655 2015
19
Compound heterozygosity in GPR56 with bilateral frontoparietal polymicrogyria. 61
23981349 2014
20
Mechanism for adhesion G protein-coupled receptor GPR56-mediated RhoA activation induced by collagen III stimulation. 61
24949629 2014
21
Conventional magnetic resonance imaging and diffusion tensor imaging studies in children with novel GPR56 mutations: further delineation of a cobblestone-like phenotype. 61
23274687 2013
22
GPR56 and the developing cerebral cortex: cells, matrix, and neuronal migration. 61
23001883 2013
23
GPR56 functions together with α3β1 integrin in regulating cerebral cortical development. 61
23874761 2013
24
Characterization of G protein-coupled receptor 56 protein expression in the mouse developing neocortex. 61
22351047 2012
25
Disease-associated mutations prevent GPR56-collagen III interaction. 61
22238662 2012
26
Photophysical properties of ternary hybrid system of lanthanide center linking organically modified silica and polymeric chain. 61
21208214 2011
27
Disease-associated GPR56 mutations cause bilateral frontoparietal polymicrogyria via multiple mechanisms. 61
21349848 2011
28
BFPP, a phloroglucinol derivative, induces cell apoptosis in human chondrosarcoma cells through endoplasmic reticulum stress. 61
20067774 2010
29
Adhesion-GPCRs in the CNS. 61
21618828 2010
30
Bilateral frontoparietal polymicrogyria (BFPP) syndrome secondary to a 16q12.1-q21 chromosome deletion involving GPR56 gene. 61
19807741 2009
31
Bilateral frontoparietal polymicrogyria, Lennox-Gastaut syndrome, and GPR56 gene mutations. 61
19016831 2009
32
GPR56-regulated granule cell adhesion is essential for rostral cerebellar development. 61
19515912 2009
33
Lanthanide (Eu3+, Tb3+) centered hybrid materials using modified functional bridge chemical bonded with silica: molecular design, physical characterization, and photophysical properties. 61
18698700 2008
34
GPR56 regulates pial basement membrane integrity and cortical lamination. 61
18509043 2008
35
Biochemical characterization of genetic mutations of GPR56 in patients with bilateral frontoparietal polymicrogyria (BFPP). 61
18042463 2008
36
Disease-associated mutations affect GPR56 protein trafficking and cell surface expression. 61
17576745 2007
37
Characterization of enteropathogenic Escherichia coli mutants that fail to disrupt host cell spreading and attachment to substratum. 61
16428726 2006
38
Bilateral generalized polymicrogyria (BGP): a distinct syndrome of cortical malformation. 61
15159468 2004
39
Effects of bfp mutations on biogenesis of functional enteropathogenic Escherichia coli type IV pili. 61
10762251 2000
40
A plasmid-encoded prepilin peptidase gene from enteropathogenic Escherichia coli. 61
7961448 1994

Variations for Polymicrogyria, Bilateral Frontoparietal

ClinVar genetic disease variations for Polymicrogyria, Bilateral Frontoparietal:

6 (show top 50) (show all 168)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ADGRG1 NM_201525.4(ADGRG1):c.1167+3G>C SNV Pathogenic 5826 rs587776623 GRCh37: 16:57690532-57690532
GRCh38: 16:57656620-57656620
2 ADGRG1 NM_201525.4(ADGRG1):c.621-1G>C SNV Pathogenic 5827 rs587776624 GRCh37: 16:57687897-57687897
GRCh38: 16:57653985-57653985
3 ADGRG1 NM_201525.4(ADGRG1):c.112C>T (p.Arg38Trp) SNV Pathogenic 5829 rs121908462 GRCh37: 16:57685159-57685159
GRCh38: 16:57651247-57651247
4 ADGRG1 NM_201525.4(ADGRG1):c.1036T>A (p.Cys346Ser) SNV Pathogenic 5830 rs121908463 GRCh37: 16:57690156-57690156
GRCh38: 16:57656244-57656244
5 ADGRG1 NM_201525.4(ADGRG1):c.263A>G (p.Tyr88Cys) SNV Pathogenic 5833 rs121908466 GRCh37: 16:57685310-57685310
GRCh38: 16:57651398-57651398
6 ADGRG1 NM_201525.4(ADGRG1):c.898C>T (p.Gln300Ter) SNV Pathogenic 617503 rs1567782714 GRCh37: 16:57689440-57689440
GRCh38: 16:57655528-57655528
7 ADGRG1 NM_201525.4(ADGRG1):c.10C>T (p.Gln4Ter) SNV Pathogenic 189231 rs786204777 GRCh37: 16:57684209-57684209
GRCh38: 16:57650297-57650297
8 ADGRG1 NM_201525.4(ADGRG1):c.265C>T (p.His89Tyr) SNV Pathogenic 158628 rs587783658 GRCh37: 16:57685312-57685312
GRCh38: 16:57651400-57651400
9 ADGRG1 NM_201525.4(ADGRG1):c.620+1G>A SNV Pathogenic 158634 rs587783660 GRCh37: 16:57687248-57687248
GRCh38: 16:57653336-57653336
10 ADGRG1 NM_201525.4(ADGRG1):c.1442T>C (p.Leu481Pro) SNV Pathogenic 158619 rs587783653 GRCh37: 16:57693480-57693480
GRCh38: 16:57659568-57659568
11 ADGRG1 NM_201525.4(ADGRG1):c.1515T>G (p.Tyr505Ter) SNV Pathogenic 158621 rs587783655 GRCh37: 16:57693553-57693553
GRCh38: 16:57659641-57659641
12 ADGRG1 NM_201525.4(ADGRG1):c.1216del (p.Leu406fs) Deletion Pathogenic 211093 rs797045600 GRCh37: 16:57691332-57691332
GRCh38: 16:57657420-57657420
13 ADGRG1 NM_201525.4(ADGRG1):c.272G>C (p.Cys91Ser) SNV Pathogenic 5832 rs121908465 GRCh37: 16:57685319-57685319
GRCh38: 16:57651407-57651407
14 ADGRG1 NM_201525.4(ADGRG1):c.944_945dup (p.Val316fs) Duplication Pathogenic 211096 rs797045602 GRCh37: 16:57689830-57689831
GRCh38: 16:57655918-57655919
15 ADGRG1 NM_201525.4(ADGRG1):c.1675C>T (p.Arg559Trp) SNV Pathogenic 5831 rs121908464 GRCh37: 16:57695619-57695619
GRCh38: 16:57661707-57661707
16 ADGRG1 NM_201525.4(ADGRG1):c.739_745del (p.Gln247fs) Deletion Pathogenic 5828 rs587776625 GRCh37: 16:57688015-57688021
GRCh38: 16:57654103-57654109
17 ADGRG1 NM_201525.4(ADGRG1):c.1408C>T (p.Arg470Ter) SNV Pathogenic 158618 rs587783652 GRCh37: 16:57693446-57693446
GRCh38: 16:57659534-57659534
18 ADGRG1 NM_201525.4(ADGRG1):c.1408C>T (p.Arg470Ter) SNV Pathogenic 158618 rs587783652 GRCh37: 16:57693446-57693446
GRCh38: 16:57659534-57659534
19 ADGRG1 NM_201525.4(ADGRG1):c.235C>T (p.Arg79Ter) SNV Pathogenic 430049 rs780718243 GRCh37: 16:57685282-57685282
GRCh38: 16:57651370-57651370
20 ADGRG1 NM_201525.4(ADGRG1):c.286C>T (p.Arg96Ter) SNV Pathogenic/Likely pathogenic 158629 rs146278035 GRCh37: 16:57685333-57685333
GRCh38: 16:57651421-57651421
21 ADGRG1 NM_201525.4(ADGRG1):c.1952G>A (p.Trp651Ter) SNV Pathogenic/Likely pathogenic 158627 rs587783657 GRCh37: 16:57697382-57697382
GRCh38: 16:57663470-57663470
22 ADGRG1 NM_201525.4(ADGRG1):c.1925C>T (p.Ser642Phe) SNV Likely pathogenic 977829 GRCh37: 16:57695869-57695869
GRCh38: 16:57661957-57661957
23 ADGRG1 NM_201525.4(ADGRG1):c.1850G>C (p.Trp617Ser) SNV Likely pathogenic 158625 rs587783656 GRCh37: 16:57695794-57695794
GRCh38: 16:57661882-57661882
24 ADGRG1 NM_201525.4(ADGRG1):c.768G>C (p.Glu256Asp) SNV Likely pathogenic 158637 rs532188689 GRCh37: 16:57688045-57688045
GRCh38: 16:57654133-57654133
25 ADGRG1 NM_201525.4(ADGRG1):c.1490T>C (p.Leu497Pro) SNV Likely pathogenic 158620 rs587783654 GRCh37: 16:57693528-57693528
GRCh38: 16:57659616-57659616
26 ADGRG1 NM_201525.4(ADGRG1):c.64+15G>T SNV Conflicting interpretations of pathogenicity 158635 rs200303272 GRCh37: 16:57684278-57684278
GRCh38: 16:57650366-57650366
27 ADGRG1 NM_201525.4(ADGRG1):c.761G>A (p.Arg254Gln) SNV Uncertain significance 158636 rs145001300 GRCh37: 16:57688038-57688038
GRCh38: 16:57654126-57654126
28 ADGRG1 NM_201525.4(ADGRG1):c.1048G>A (p.Val350Ile) SNV Uncertain significance 158613 rs587783649 GRCh37: 16:57690168-57690168
GRCh38: 16:57656256-57656256
29 ADGRG1 NM_201525.4(ADGRG1):c.1063+9G>C SNV Uncertain significance 158614 rs587783650 GRCh37: 16:57690192-57690192
GRCh38: 16:57656280-57656280
30 ADGRG1 NM_201525.4(ADGRG1):c.1246C>T (p.Leu416=) SNV Uncertain significance 158616 rs587783651 GRCh37: 16:57691363-57691363
GRCh38: 16:57657451-57657451
31 ADGRG1 NM_201525.4(ADGRG1):c.900G>C (p.Gln300His) SNV Uncertain significance 158639 rs587783661 GRCh37: 16:57689442-57689442
GRCh38: 16:57655530-57655530
32 ADGRG1 NM_201525.4(ADGRG1):c.402G>A (p.Pro134=) SNV Uncertain significance 435353 rs149607882 GRCh37: 16:57685449-57685449
GRCh38: 16:57651537-57651537
33 ADGRG1 NM_201525.4(ADGRG1):c.487A>C (p.Ser163Arg) SNV Uncertain significance 287269 rs373741981 GRCh37: 16:57685534-57685534
GRCh38: 16:57651622-57651622
34 ADGRG1 NM_201525.4(ADGRG1):c.64+5G>A SNV Uncertain significance 984712 GRCh37: 16:57684268-57684268
GRCh38: 16:57650356-57650356
35 ADGRG1 NM_201525.4(ADGRG1):c.1188C>T (p.Asp396=) SNV Uncertain significance 497887 rs368883473 GRCh37: 16:57691305-57691305
GRCh38: 16:57657393-57657393
36 ADGRG1 NM_201525.4(ADGRG1):c.97C>T (p.Arg33Cys) SNV Uncertain significance 287194 rs776480483 GRCh37: 16:57685144-57685144
GRCh38: 16:57651232-57651232
37 ADGRG1 NM_201525.4(ADGRG1):c.985G>A (p.Val329Met) SNV Uncertain significance 733153 rs61744444 GRCh37: 16:57689872-57689872
GRCh38: 16:57655960-57655960
38 ADGRG1 NM_201525.4(ADGRG1):c.1269C>T (p.Ala423=) SNV Uncertain significance 764366 rs768984787 GRCh37: 16:57691386-57691386
GRCh38: 16:57657474-57657474
39 ADGRG1 NM_201525.4(ADGRG1):c.462C>G (p.Ala154=) SNV Uncertain significance 796923 rs373133040 GRCh37: 16:57685509-57685509
GRCh38: 16:57651597-57651597
40 ADGRG1 NM_201525.4(ADGRG1):c.2001G>A (p.Lys667=) SNV Uncertain significance 758880 rs1241910381 GRCh37: 16:57697431-57697431
GRCh38: 16:57663519-57663519
41 ADGRG1 NM_201525.4(ADGRG1):c.2037G>A (p.Ser679=) SNV Uncertain significance 792497 rs186736979 GRCh37: 16:57697467-57697467
GRCh38: 16:57663555-57663555
42 ADGRG1 NM_201525.4(ADGRG1):c.685G>A (p.Glu229Lys) SNV Uncertain significance 886783 GRCh37: 16:57687962-57687962
GRCh38: 16:57654050-57654050
43 ADGRG1 NM_201525.4(ADGRG1):c.-11G>A SNV Uncertain significance 158611 rs112775979 GRCh37: 16:57684189-57684189
GRCh38: 16:57650277-57650277
44 ADGRG1 NM_201525.4(ADGRG1):c.287G>A (p.Arg96Gln) SNV Uncertain significance 158630 rs587783659 GRCh37: 16:57685334-57685334
GRCh38: 16:57651422-57651422
45 ADGRG1 NM_201525.4(ADGRG1):c.1287-28G>C SNV Uncertain significance 287126 rs60624815 GRCh37: 16:57693297-57693297
GRCh38: 16:57659385-57659385
46 ADGRG1 NM_201525.4(ADGRG1):c.1377G>A (p.Pro459=) SNV Uncertain significance 737031 rs772599432 GRCh37: 16:57693415-57693415
GRCh38: 16:57659503-57659503
47 ADGRG1 NM_201525.4(ADGRG1):c.641C>G (p.Ser214Trp) SNV Uncertain significance 596586 rs114515505 GRCh37: 16:57687918-57687918
GRCh38: 16:57654006-57654006
48 ADGRG1 NM_201525.4(ADGRG1):c.1170C>A (p.Val390=) SNV Uncertain significance 989970 GRCh37: 16:57691287-57691287
GRCh38: 16:57657375-57657375
49 ADGRG1 NM_201525.4(ADGRG1):c.1183G>A (p.Val395Met) SNV Uncertain significance 989971 GRCh37: 16:57691300-57691300
GRCh38: 16:57657388-57657388
50 ADGRG1 NM_201525.4(ADGRG1):c.1561C>G (p.Pro521Ala) SNV Uncertain significance 988720 GRCh37: 16:57694685-57694685
GRCh38: 16:57660773-57660773

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

72
# 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

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

Cellular components related to Polymicrogyria, Bilateral Frontoparietal according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integral component of plasma membrane GO:0005887 8.62 ADGRG3 ADGRG1

Biological processes related to Polymicrogyria, Bilateral Frontoparietal according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 G protein-coupled receptor signaling pathway GO:0007186 9.16 ADGRG3 ADGRG1
2 cell surface receptor signaling pathway GO:0007166 8.96 ADGRG3 ADGRG1
3 adenylate cyclase-activating G protein-coupled receptor signaling pathway GO:0007189 8.62 ADGRG3 ADGRG1

Molecular functions related to Polymicrogyria, Bilateral Frontoparietal according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 G protein-coupled receptor activity GO:0004930 8.96 ADGRG3 ADGRG1
2 transmembrane signaling receptor activity GO:0004888 8.62 ADGRG3 ADGRG1

Sources for Polymicrogyria, Bilateral Frontoparietal

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
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
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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