BFPP
MCID: PLY117
MIFTS: 26

Polymicrogyria, Bilateral Frontoparietal (BFPP) malady

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

Aliases & Classifications for Polymicrogyria, Bilateral Frontoparietal

Aliases & Descriptions for Polymicrogyria, Bilateral Frontoparietal:

Name: Polymicrogyria, Bilateral Frontoparietal 54 66 13 69
Bilateral Frontoparietal Polymicrogyria 50 56 29
Cerebellar Ataxia with Neuronal Migration Defect 50 66
Bfpp 50 66

Characteristics:

HPO:

32
polymicrogyria, bilateral frontoparietal:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 606854
Orphanet 56 ORPHA101070
ICD10 via Orphanet 34 Q04.3
MedGen 40 C1847352
MeSH 42 D054220

Summaries for Polymicrogyria, Bilateral Frontoparietal

NIH Rare Diseases : 50 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 bilateral frontoparietal polymicrogyria, is related to polymicrogyria, symmetric or asymmetric 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 : 66 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 : 71 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:

id Related Disease Score Top Affiliating Genes
1 polymicrogyria, symmetric or asymmetric 11.1
2 polymicrogyria 10.2

Symptoms & Phenotypes for Polymicrogyria, Bilateral Frontoparietal

Symptoms by clinical synopsis from OMIM:

606854

Clinical features from OMIM:

606854

Human phenotypes related to Polymicrogyria, Bilateral Frontoparietal:

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

UMLS symptoms related to Polymicrogyria, Bilateral Frontoparietal:


seizures, abnormal pyramidal signs, ataxia, truncal

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:

id Genetic test Affiliating Genes
1 Polymicrogyria, Bilateral Frontoparietal 29

Anatomical Context for Polymicrogyria, Bilateral Frontoparietal

MalaCards organs/tissues related to Polymicrogyria, Bilateral Frontoparietal:

39
Brain, Cortex, Eye, Parietal Lobe

Publications for Polymicrogyria, Bilateral Frontoparietal

Variations for Polymicrogyria, Bilateral Frontoparietal

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

66
id 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)
id 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.621-1G> C single nucleotide variant Pathogenic rs587776624 GRCh38 Chromosome 16, 57653985: 57653985
3 ADGRG1 NM_005682.6(ADGRG1): c.739_745delCAGGACC (p.Gln247Cysfs) deletion Pathogenic rs587776625 GRCh38 Chromosome 16, 57654104: 57654110
4 ADGRG1 NM_005682.6(ADGRG1): c.112C> T (p.Arg38Trp) single nucleotide variant Pathogenic rs121908462 GRCh37 Chromosome 16, 57685159: 57685159
5 ADGRG1 NM_005682.6(ADGRG1): c.1036T> A (p.Cys346Ser) single nucleotide variant Pathogenic rs121908463 GRCh37 Chromosome 16, 57690156: 57690156
6 ADGRG1 NM_005682.6(ADGRG1): c.1693C> T (p.Arg565Trp) single nucleotide variant Pathogenic/Likely pathogenic rs121908464 GRCh37 Chromosome 16, 57695619: 57695619
7 ADGRG1 NM_005682.6(ADGRG1): c.272G> C (p.Cys91Ser) single nucleotide variant Pathogenic rs121908465 GRCh37 Chromosome 16, 57685319: 57685319
8 ADGRG1 NM_005682.6(ADGRG1): c.263A> G (p.Tyr88Cys) single nucleotide variant Pathogenic rs121908466 GRCh37 Chromosome 16, 57685310: 57685310
9 ADGRG1 NM_005682.6(ADGRG1): c.265C> T (p.His89Tyr) single nucleotide variant Pathogenic rs587783658 GRCh37 Chromosome 16, 57685312: 57685312
10 ADGRG1 NM_005682.6(ADGRG1): c.286C> T (p.Arg96Ter) single nucleotide variant Pathogenic rs146278035 GRCh38 Chromosome 16, 57651421: 57651421
11 ADGRG1 NM_005682.6(ADGRG1): c.620+1G> A single nucleotide variant Pathogenic rs587783660 GRCh38 Chromosome 16, 57653336: 57653336
12 ADGRG1 NM_005682.6(ADGRG1): c.768G> C (p.Glu256Asp) single nucleotide variant Likely pathogenic rs532188689 GRCh38 Chromosome 16, 57654133: 57654133
13 ADGRG1 NM_005682.6(ADGRG1): c.1426C> T (p.Arg476Ter) single nucleotide variant Pathogenic rs587783652 GRCh37 Chromosome 16, 57693446: 57693446
14 ADGRG1 NM_005682.6(ADGRG1): c.1460T> C (p.Leu487Pro) single nucleotide variant Pathogenic rs587783653 GRCh37 Chromosome 16, 57693480: 57693480
15 ADGRG1 NM_005682.6(ADGRG1): c.1508T> C (p.Leu503Pro) single nucleotide variant Likely pathogenic rs587783654 GRCh37 Chromosome 16, 57693528: 57693528
16 ADGRG1 NM_005682.6(ADGRG1): c.1533T> G (p.Tyr511Ter) single nucleotide variant Pathogenic rs587783655 GRCh37 Chromosome 16, 57693553: 57693553
17 ADGRG1 NM_005682.6(ADGRG1): c.1868G> C (p.Trp623Ser) single nucleotide variant Likely pathogenic rs587783656 GRCh38 Chromosome 16, 57661882: 57661882
18 ADGRG1 NM_005682.6(ADGRG1): c.1970G> A (p.Trp657Ter) single nucleotide variant Pathogenic rs587783657 GRCh37 Chromosome 16, 57697382: 57697382
19 ADGRG1 NM_005682.6(ADGRG1): c.10C> T (p.Gln4Ter) single nucleotide variant Pathogenic rs786204777 GRCh37 Chromosome 16, 57684209: 57684209
20 ADGRG1 NM_005682.6(ADGRG1): c.944_945dupTT (p.Val316Leufs) duplication Pathogenic rs797045602 GRCh38 Chromosome 16, 57655919: 57655920
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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