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BTOP
MCID: PLY110
MIFTS: 25

Polymicrogyria, Bilateral Temporooccipital (BTOP)

Categories: Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes
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Aliases & Classifications for Polymicrogyria, Bilateral Temporooccipital

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MalaCards integrated aliases for Polymicrogyria, Bilateral Temporooccipital:

Name: Polymicrogyria, Bilateral Temporooccipital 56 73 29 6 39 71
Btop 56 73
Bilateral Parasagittal Parieto-Occipital Polymicrogyria 58
Polymicrogyria 71

Characteristics:

OMIM:

56
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:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases
Anatomical: Neuronal diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 612691
MeSH 43 D065706
ICD10 via Orphanet 33 Q04.3
Orphanet 58 ORPHA208441
UMLS 71 C0266464 C4013648
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Summaries for Polymicrogyria, Bilateral Temporooccipital

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UniProtKB/Swiss-Prot : 73 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 ventriculomegaly and polymicrogyria

More information from OMIM: 612691
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Related Diseases for Polymicrogyria, Bilateral Temporooccipital

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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 12.9

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Symptoms & Phenotypes for Polymicrogyria, Bilateral Temporooccipital

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Human phenotypes related to Polymicrogyria, Bilateral Temporooccipital:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 ventriculomegaly 31 HP:0002119
2 polymicrogyria 31 HP:0002126
3 focal impaired awareness seizure 31 HP:0002384
4 status epilepticus 31 HP:0002133
5 aggressive behavior 31 HP:0000718
6 visual hallucinations 31 HP:0002367
7 delirium 31 HP:0031258

Symptoms via clinical synopsis from OMIM:

56
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

UMLS symptoms related to Polymicrogyria, Bilateral Temporooccipital:


seizures, hallucinations, visual
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Drugs & Therapeutics for Polymicrogyria, Bilateral Temporooccipital

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Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Human Epilepsy Genetics--Neuronal Migration Disorders Study Unknown status NCT00041600
2 Epilepsy Phenome/Genome Project: A Phenotype/Genotype Analysis of Epilepsy Completed NCT00552045
3 Assessment of the Prevalence and Mutational Spectrum of Genes AHI1, NPHP1 and CEP290 in Joubert Syndrome and Cerebello-oculo-renal Syndromes Completed NCT00873678
4 Phenotypic and Genotypic Studies in Congenital and Early Onset Ataxias Completed NCT01488461
5 Disorders of Cerebral Development: A Phenotypic and Genetic Analysis Recruiting NCT00305305
6 Pathogenesis of Selected X-Linked Dominant Disorders and New Strategies to Identify the Gene Mutated in Aicardi Syndrome Recruiting NCT00697411
7 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

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Genetic Tests for Polymicrogyria, Bilateral Temporooccipital

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Genetic tests related to Polymicrogyria, Bilateral Temporooccipital:

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

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MalaCards organs/tissues related to Polymicrogyria, Bilateral Temporooccipital:

40
Brain
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Publications for Polymicrogyria, Bilateral Temporooccipital

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Articles related to Polymicrogyria, Bilateral Temporooccipital:

# Title Authors PMID Year
1
Role of the phosphoinositide phosphatase FIG4 gene in familial epilepsy with polymicrogyria. 56 6
24598713 2014
2
A locus for bilateral occipital polymicrogyria maps to chromosome 6q16-q22. 6
18758830 2009
3
Polymicrogyria Overview 6
20301504 2005
4
Attitudes toward and beliefs about obese persons across Hong Kong and Taiwan: wording effects and measurement invariance. 61
31362763 2019
5
Zeolitic materials with hierarchical porous structures. 61
21495091 2011
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Variations for Polymicrogyria, Bilateral Temporooccipital

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ClinVar genetic disease variations for Polymicrogyria, Bilateral Temporooccipital:

6 ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FIG4 NM_014845.5(FIG4):c.290-2A>GSNV Pathogenic 638361 6:110048310-110048310 6:109727107-109727107
2 FIG4 NM_014845.5(FIG4):c.2348A>T (p.Asp783Val)SNV Pathogenic 156017 rs587777716 6:110112746-110112746 6:109791543-109791543
3 FIG4 NM_014845.5(FIG4):c.737G>A (p.Trp246Ter)SNV Pathogenic/Likely pathogenic 420149 rs776005417 6:110059618-110059618 6:109738415-109738415
4 FIG4 NM_014845.5(FIG4):c.834A>T (p.Lys278Asn)SNV Conflicting interpretations of pathogenicity 407082 rs138048706 6:110062705-110062705 6:109741502-109741502

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

73
# Symbol AA change Variation ID SNP ID
1 FIG4 p.Asp783Val VAR_071959 rs587777716

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Expression for Polymicrogyria, Bilateral Temporooccipital

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

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GO Terms for Polymicrogyria, Bilateral Temporooccipital

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Sources for Polymicrogyria, Bilateral Temporooccipital

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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