BTOP
MCID: PLY110
MIFTS: 26

Polymicrogyria, Bilateral Temporooccipital (BTOP)

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

Aliases & Classifications for Polymicrogyria, Bilateral Temporooccipital

MalaCards integrated aliases for Polymicrogyria, Bilateral Temporooccipital:

Name: Polymicrogyria, Bilateral Temporooccipital 57 72 29 6 39 70
Btop 57 72
Bilateral Parasagittal Parieto-Occipital Polymicrogyria 58
Polymicrogyria 70

Characteristics:

OMIM®:

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

Miscellaneous:
variable severity
one family has been reported (last curated september 2014)
variable age at onset, first to second decades


HPO:

31
polymicrogyria, bilateral temporooccipital:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM® 57 612691
MeSH 44 D065706
ICD10 via Orphanet 33 Q04.3
Orphanet 58 ORPHA208441
UMLS 70 C0266464 C4013648

Summaries for Polymicrogyria, Bilateral Temporooccipital

UniProtKB/Swiss-Prot : 72 Polymicrogyria, bilateral temporooccipital: A disease characterized by temporo-occipital polymicrogyria, psychiatric manifestations, and epilepsy.

MalaCards based summary : Polymicrogyria, Bilateral Temporooccipital, also known as btop, is related to bilateral parasagittal parieto-occipital polymicrogyria, and has symptoms including seizures and hallucinations, visual. An important gene associated with Polymicrogyria, Bilateral Temporooccipital is FIG4 (FIG4 Phosphoinositide 5-Phosphatase). Affiliated tissues include brain, and related phenotypes are focal impaired awareness seizure and aggressive behavior

More information from OMIM: 612691

Related Diseases for Polymicrogyria, Bilateral Temporooccipital

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

# Related Disease Score Top Affiliating Genes
1 bilateral parasagittal parieto-occipital polymicrogyria 11.6

Symptoms & Phenotypes for Polymicrogyria, Bilateral Temporooccipital

Human phenotypes related to Polymicrogyria, Bilateral Temporooccipital:

58 31 (show all 32)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 focal impaired awareness seizure 58 31 Occasional (29-5%) HP:0002384
2 aggressive behavior 58 31 Occasional (29-5%) HP:0000718
3 visual hallucinations 58 31 Occasional (29-5%) HP:0002367
4 delirium 58 31 Occasional (29-5%) HP:0031258
5 macrocephaly 58 Occasional (29-5%)
6 intellectual disability 58 Frequent (79-30%)
7 seizures 58 Frequent (79-30%)
8 spasticity 58 Occasional (29-5%)
9 muscular hypotonia 58 Occasional (29-5%)
10 hearing impairment 58 Occasional (29-5%)
11 global developmental delay 58 Frequent (79-30%)
12 behavioral abnormality 58 Frequent (79-30%)
13 delayed speech and language development 58 Very frequent (99-80%)
14 abnormal facial shape 58 Occasional (29-5%)
15 microcephaly 58 Occasional (29-5%)
16 visual impairment 58 Occasional (29-5%)
17 strabismus 58 Occasional (29-5%)
18 ventriculomegaly 31 HP:0002119
19 polymicrogyria 31 HP:0002126
20 abnormal palate morphology 58 Occasional (29-5%)
21 generalized tonic-clonic seizures 58 Frequent (79-30%)
22 status epilepticus 31 HP:0002133
23 abnormality of the skin 58 Occasional (29-5%)
24 delayed gross motor development 58 Very frequent (99-80%)
25 auditory hallucinations 58 Occasional (29-5%)
26 pseudobulbar paralysis 58 Occasional (29-5%)
27 cortical dysplasia 58 Very frequent (99-80%)
28 delayed fine motor development 58 Very frequent (99-80%)
29 abnormal digit morphology 58 Occasional (29-5%)
30 abnormal fear/anxiety-related behavior 58 Occasional (29-5%)
31 suicidal ideation 58 Occasional (29-5%)
32 psychotic mentation 58 Occasional (29-5%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
seizures
status epilepticus
visual hallucinations
enlarged ventricles
secondary generalization
more
Neurologic Behavioral Psychiatric Manifestations:
aggressive behavior
delirium
psychiatric abnormalities

Clinical features from OMIM®:

612691 (Updated 05-Apr-2021)

UMLS symptoms related to Polymicrogyria, Bilateral Temporooccipital:


seizures; hallucinations, visual

Drugs & Therapeutics for Polymicrogyria, Bilateral Temporooccipital

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Epilepsy Phenome/Genome Project: A Phenotype/Genotype Analysis of Epilepsy Completed NCT00552045
2 Human Epilepsy Genetics--Neuronal Migration Disorders Study Recruiting NCT00041600
3 Use of a Tonometer to Identify Focal Cortical Dysplasia and Tuberous Sclerosis Complex During Pediatric Epilepsy Surgery Recruiting NCT04344626

Search NIH Clinical Center for Polymicrogyria, Bilateral Temporooccipital

Genetic Tests for Polymicrogyria, Bilateral Temporooccipital

Genetic tests related to Polymicrogyria, Bilateral Temporooccipital:

# Genetic test Affiliating Genes
1 Polymicrogyria, Bilateral Temporooccipital 29 FIG4

Anatomical Context for Polymicrogyria, Bilateral Temporooccipital

MalaCards organs/tissues related to Polymicrogyria, Bilateral Temporooccipital:

40
Brain

Publications for Polymicrogyria, Bilateral Temporooccipital

Articles related to Polymicrogyria, Bilateral Temporooccipital:

(show all 15)
# Title Authors PMID Year
1
Role of the phosphoinositide phosphatase FIG4 gene in familial epilepsy with polymicrogyria. 57 6
24598713 2014
2
A New Mutation in FIG4 Causes a Severe Form of CMT4J Involving TRPV4 in the Pathogenic Cascade. 6
28859335 2017
3
A comprehensive analysis of rare genetic variation in amyotrophic lateral sclerosis in the UK. 6
28430856 2017
4
FIG4 variants in central European patients with amyotrophic lateral sclerosis: a whole-exome and targeted sequencing study. 6
28051077 2017
5
Improving diagnosis of inherited peripheral neuropathies through gene panel analysis. 6
27549087 2016
6
Whole exome sequencing identifies three recessive FIG4-mutations in an apparently dominant pedigree with Charcot-Marie-Tooth disease. 6
25617005 2015
7
Whole exome sequencing identifies three recessive FIG4 mutations in an apparently dominant pedigree with Charcot-Marie-Tooth disease. 6
24878229 2014
8
Rapidly progressive asymmetrical weakness in Charcot-Marie-Tooth disease type 4J resembles chronic inflammatory demyelinating polyneuropathy. 6
23489662 2013
9
Pathogenic mechanism of the FIG4 mutation responsible for Charcot-Marie-Tooth disease CMT4J. 6
21655088 2011
10
ArPIKfyve regulates Sac3 protein abundance and turnover: disruption of the mechanism by Sac3I41T mutation causing Charcot-Marie-Tooth 4J disorder. 6
20630877 2010
11
A locus for bilateral occipital polymicrogyria maps to chromosome 6q16-q22. 6
18758830 2009
12
CMT4J: Charcot-Marie-Tooth disorder caused by mutations in FIG4. 6
18261132 2008
13
Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J. 6
17572665 2007
14
Attitudes toward and beliefs about obese persons across Hong Kong and Taiwan: wording effects and measurement invariance. 61
31362763 2019
15
Zeolitic materials with hierarchical porous structures. 61
21495091 2011

Variations for Polymicrogyria, Bilateral Temporooccipital

ClinVar genetic disease variations for Polymicrogyria, Bilateral Temporooccipital:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FIG4 NM_014845.5(FIG4):c.290-2A>G SNV Pathogenic 638361 rs587777715 GRCh37: 6:110048310-110048310
GRCh38: 6:109727107-109727107
2 FIG4 NM_014845.5(FIG4):c.737G>A (p.Trp246Ter) SNV Pathogenic 420149 rs776005417 GRCh37: 6:110059618-110059618
GRCh38: 6:109738415-109738415
3 FIG4 NM_014845.5(FIG4):c.831_838del (p.Lys278fs) Deletion Pathogenic 50995 rs786200937 GRCh37: 6:110062701-110062708
GRCh38: 6:109741498-109741505
4 FIG4 NM_014845.5(FIG4):c.122T>C (p.Ile41Thr) SNV Pathogenic 1721 rs121908287 GRCh37: 6:110036336-110036336
GRCh38: 6:109715133-109715133
5 FIG4 NM_014845.5(FIG4):c.2348A>T (p.Asp783Val) SNV Pathogenic 156017 rs587777716 GRCh37: 6:110112746-110112746
GRCh38: 6:109791543-109791543
6 FIG4 NM_014845.6(FIG4):c.573dup (p.Glu192fs) Duplication Pathogenic 1033300 GRCh37: 6:110056427-110056428
GRCh38: 6:109735224-109735225
7 FIG4 NM_014845.6(FIG4):c.691A>G (p.Asn231Asp) SNV Likely pathogenic 977868 GRCh37: 6:110059572-110059572
GRCh38: 6:109738369-109738369
8 FIG4 NM_014845.5(FIG4):c.834A>T (p.Lys278Asn) SNV Uncertain significance 407082 rs138048706 GRCh37: 6:110062705-110062705
GRCh38: 6:109741502-109741502
9 FIG4 NM_014845.6(FIG4):c.2119G>A (p.Gly707Arg) SNV Uncertain significance 1029315 GRCh37: 6:110110819-110110819
GRCh38: 6:109789616-109789616

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

72
# Symbol AA change Variation ID SNP ID
1 FIG4 p.Asp783Val VAR_071959 rs587777716

Expression for Polymicrogyria, Bilateral Temporooccipital

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

Pathways for Polymicrogyria, Bilateral Temporooccipital

GO Terms for Polymicrogyria, Bilateral Temporooccipital

Sources for Polymicrogyria, Bilateral Temporooccipital

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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