MCID: BLT009
MIFTS: 21

Bilateral Generalized Polymicrogyria

Categories: Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Bilateral Generalized Polymicrogyria

MalaCards integrated aliases for Bilateral Generalized Polymicrogyria:

Name: Bilateral Generalized Polymicrogyria 20 58
Bilateral Generalised Polymicrogyria 20

Characteristics:

Orphanet epidemiological data:

58
bilateral generalized polymicrogyria
Inheritance: Autosomal recessive;

Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for Bilateral Generalized Polymicrogyria

GARD : 20 Bilateral generalized polymicrogyria is a rare neurological disorder that affects the cerebral cortex (the outer surface of the brain). This is the most widespread form of polymicrogyria and typically affects the entire surface of the brain. Signs and symptoms include severe intellectual disability, problems with movement, and seizures that are difficult or impossible to treat. While the exact cause of bilateral generalized polymicrogyria is not fully understood, it is thought to be due to improper brain development during embryonic growth. Most cases appear to follow an autosomal recessive pattern of inheritance. Treatment is based on the signs and symptoms present in each person.

MalaCards based summary : Bilateral Generalized Polymicrogyria, also known as bilateral generalised polymicrogyria, is related to polymicrogyria and polymicrogyria, bilateral frontoparietal. An important gene associated with Bilateral Generalized Polymicrogyria is GRIN1 (Glutamate Ionotropic Receptor NMDA Type Subunit 1). Affiliated tissues include brain and cortex, and related phenotypes are profound global developmental delay and delayed ability to walk

Related Diseases for Bilateral Generalized Polymicrogyria

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

# Related Disease Score Top Affiliating Genes
1 polymicrogyria 11.2
2 polymicrogyria, bilateral frontoparietal 10.0
3 polymicrogyria with or without vascular-type ehlers-danlos syndrome 10.0
4 pseudobulbar palsy 10.0
5 bilateral polymicrogyria 10.0

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



Diseases related to Bilateral Generalized Polymicrogyria

Symptoms & Phenotypes for Bilateral Generalized Polymicrogyria

Human phenotypes related to Bilateral Generalized Polymicrogyria:

58 31 (show top 50) (show all 55)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 profound global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0012736
2 delayed ability to walk 58 31 hallmark (90%) Very frequent (99-80%) HP:0031936
3 stereotypy 58 31 frequent (33%) Frequent (79-30%) HP:0000733
4 spastic tetraplegia 58 31 frequent (33%) Frequent (79-30%) HP:0002510
5 intellectual disability, severe 58 31 frequent (33%) Frequent (79-30%) HP:0010864
6 muscular hypotonia of the trunk 58 31 frequent (33%) Frequent (79-30%) HP:0008936
7 cerebral visual impairment 58 31 frequent (33%) Frequent (79-30%) HP:0100704
8 mutism 58 31 frequent (33%) Frequent (79-30%) HP:0002300
9 sleep disturbance 58 31 occasional (7.5%) Occasional (29-5%) HP:0002360
10 self-injurious behavior 58 31 occasional (7.5%) Occasional (29-5%) HP:0100716
11 dyskinesia 58 31 occasional (7.5%) Occasional (29-5%) HP:0100660
12 microcephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000252
13 short stature 58 31 occasional (7.5%) Occasional (29-5%) HP:0004322
14 gastroesophageal reflux 58 31 occasional (7.5%) Occasional (29-5%) HP:0002020
15 intellectual disability, mild 58 31 occasional (7.5%) Occasional (29-5%) HP:0001256
16 intellectual disability, moderate 58 31 occasional (7.5%) Occasional (29-5%) HP:0002342
17 severe global developmental delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0011344
18 infantile spasms 58 31 occasional (7.5%) Occasional (29-5%) HP:0012469
19 hypoplasia of the corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0002079
20 status epilepticus 58 31 occasional (7.5%) Occasional (29-5%) HP:0002133
21 intellectual disability, profound 58 31 occasional (7.5%) Occasional (29-5%) HP:0002187
22 autistic behavior 58 31 occasional (7.5%) Occasional (29-5%) HP:0000729
23 impaired mastication 58 31 occasional (7.5%) Occasional (29-5%) HP:0005216
24 oral-pharyngeal dysphagia 58 31 occasional (7.5%) Occasional (29-5%) HP:0200136
25 widened subarachnoid space 58 31 occasional (7.5%) Occasional (29-5%) HP:0012704
26 focal motor seizure 58 31 occasional (7.5%) Occasional (29-5%) HP:0011153
27 diffuse white matter abnormalities 58 31 occasional (7.5%) Occasional (29-5%) HP:0007204
28 atonic seizure 58 31 occasional (7.5%) Occasional (29-5%) HP:0010819
29 paroxysmal dyskinesia 58 31 occasional (7.5%) Occasional (29-5%) HP:0007166
30 total ophthalmoplegia 58 31 occasional (7.5%) Occasional (29-5%) HP:0007824
31 oculogyric crisis 58 31 occasional (7.5%) Occasional (29-5%) HP:0010553
32 dilation of lateral ventricles 58 31 occasional (7.5%) Occasional (29-5%) HP:0006956
33 hypoplastic hippocampus 58 31 occasional (7.5%) Occasional (29-5%) HP:0025517
34 nasogastric tube feeding 58 31 occasional (7.5%) Occasional (29-5%) HP:0040288
35 typical absence seizure 58 31 occasional (7.5%) Occasional (29-5%) HP:0011147
36 eyelid myoclonus 58 31 occasional (7.5%) Occasional (29-5%) HP:0025097
37 bilateral tonic-clonic seizure 31 occasional (7.5%) HP:0002069
38 generalized tonic seizure 31 occasional (7.5%) HP:0010818
39 generalized myoclonic seizure 31 occasional (7.5%) HP:0002123
40 focal emotional seizure with laughing 31 occasional (7.5%) HP:0010821
41 developmental regression 58 31 very rare (1%) Very rare (<4-1%) HP:0002376
42 spasticity 58 Frequent (79-30%)
43 behavioral abnormality 58 Frequent (79-30%)
44 abnormality of movement 58 Frequent (79-30%)
45 growth delay 58 Occasional (29-5%)
46 generalized myoclonic seizures 58 Occasional (29-5%)
47 dystonia 58 Occasional (29-5%)
48 feeding difficulties 58 Frequent (79-30%)
49 generalized tonic-clonic seizures 58 Occasional (29-5%)
50 delayed gross motor development 58 Very frequent (99-80%)

Drugs & Therapeutics for Bilateral Generalized Polymicrogyria

Search Clinical Trials , NIH Clinical Center for Bilateral Generalized Polymicrogyria

Genetic Tests for Bilateral Generalized Polymicrogyria

Anatomical Context for Bilateral Generalized Polymicrogyria

MalaCards organs/tissues related to Bilateral Generalized Polymicrogyria:

40
Brain, Cortex

Publications for Bilateral Generalized Polymicrogyria

Articles related to Bilateral Generalized Polymicrogyria:

# Title Authors PMID Year
1
Genotype-phenotype analysis of human frontoparietal polymicrogyria syndromes. 61
16240336 2005
2
Bilateral generalized polymicrogyria (BGP): a distinct syndrome of cortical malformation. 61
15159468 2004

Variations for Bilateral Generalized Polymicrogyria

Expression for Bilateral Generalized Polymicrogyria

Search GEO for disease gene expression data for Bilateral Generalized Polymicrogyria.

Pathways for Bilateral Generalized Polymicrogyria

GO Terms for Bilateral Generalized Polymicrogyria

Sources for Bilateral Generalized Polymicrogyria

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....