BTOP
MCID: PLY110
MIFTS: 29

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 75 29 6 40 73
Polymicrogyria 44 73
Btop 57 75
Bilateral Parasagittal Parieto-Occipital Polymicrogyria 59

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
polymicrogyria, bilateral temporooccipital:
Onset and clinical course variable expressivity
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 612691
Orphanet 59 ORPHA208441
ICD10 via Orphanet 34 Q04.3
MeSH 44 D065706

Summaries for Polymicrogyria, Bilateral Temporooccipital

UniProtKB/Swiss-Prot : 75 Polymicrogyria, bilateral temporooccipital: A disease characterized by temporo-occipital polymicrogyria, psychiatric manifestations, and epilepsy.

MalaCards based summary : Polymicrogyria, Bilateral Temporooccipital, also known as polymicrogyria, is related to polymicrogyria and megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, 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 aggressive behavior

Description 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:

(show top 50) (show all 125)
# Related Disease Score Top Affiliating Genes
1 polymicrogyria 12.7
2 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 12.6
3 megalencephaly-capillary malformation-polymicrogyria syndrome 12.5
4 polymicrogyria, bilateral frontoparietal 12.5
5 polymicrogyria, bilateral perisylvian, x-linked 12.4
6 polymicrogyria, bilateral perisylvian, autosomal recessive 12.4
7 bilateral generalized polymicrogyria 12.4
8 microcephaly, short stature, and polymicrogyria with or without seizures 12.4
9 bilateral frontal polymicrogyria 12.4
10 polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis 12.3
11 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 12.3
12 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 12.3
13 unilateral polymicrogyria 12.2
14 pseudo-torch syndrome 1 12.1
15 bilateral polymicrogyria 12.1
16 cortical dysplasia, complex, with other brain malformations 8 12.1
17 unilateral focal polymicrogyria 12.1
18 agyria pachygyria polymicrogyria 11.9
19 bilateral parasagittal parieto-occipital polymicrogyria 11.9
20 polymicrogyria turricephaly hypogenitalism 11.9
21 microcephaly-polymicrogyria-corpus callosum agenesis syndrome 11.9
22 unilateral hemispheric polymicrogyria 11.9
23 cortical dysplasia, complex, with other brain malformations 7 11.9
24 cortical malformations, occipital 11.6
25 muscular dystrophy-dystroglycanopathy , type a, 4 11.3
26 band heterotopia 11.3
27 congenital intrauterine infection-like syndrome 11.1
28 cortical dysplasia, complex, with other brain malformations 1 11.1
29 craniotelencephalic dysplasia 10.9
30 aicardi-goutieres syndrome 1 10.9
31 galloway-mowat syndrome 1 10.9
32 galloway-mowat syndrome 2, x-linked 10.9
33 aicardi syndrome 10.9
34 cortical dysplasia, complex, with other brain malformations 2 10.9
35 spinal muscular atrophy, lower extremity-predominant, 2, autosomal dominant 10.9
36 cortical dysplasia, complex, with other brain malformations 6 10.9
37 peho-like syndrome 10.9
38 galloway-mowat syndrome 3 10.9
39 galloway-mowat syndrome 4 10.9
40 galloway-mowat syndrome 5 10.9
41 complex cortical dysplasia with other brain malformations 10.9
42 neuronal migration disorders 10.9
43 epilepsy 10.6
44 megalencephaly 10.4
45 hydrocephalus 10.4
46 polydactyly 10.3
47 pachygyria 10.2
48 schizencephaly 10.2
49 periventricular nodular heterotopia 10.2
50 microcephaly 10.1

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



Diseases related to Polymicrogyria, Bilateral Temporooccipital

Symptoms & Phenotypes for Polymicrogyria, Bilateral Temporooccipital

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
seizures
status epilepticus
visual hallucinations
enlarged ventricles
secondary generalization
more
Neurologic Behavioral Psychiatric Manifestations:
aggressive behavior
psychiatric abnormalities
delirium


Clinical features from OMIM:

612691

Human phenotypes related to Polymicrogyria, Bilateral Temporooccipital:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 ventriculomegaly 32 HP:0002119
2 aggressive behavior 32 HP:0000718
3 status epilepticus 32 HP:0002133
4 polymicrogyria 32 HP:0002126
5 visual hallucinations 32 HP:0002367
6 delirium 32 HP:0031258
7 focal impaired awareness seizure 32 HP:0002384

UMLS symptoms related to Polymicrogyria, Bilateral Temporooccipital:


seizures, hallucinations, visual

Drugs & Therapeutics for Polymicrogyria, Bilateral Temporooccipital

Search Clinical Trials , NIH Clinical Center for Polymicrogyria, Bilateral Temporooccipital

Cochrane evidence based reviews: polymicrogyria

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:

41
Brain

Publications for Polymicrogyria, Bilateral Temporooccipital

Articles related to Polymicrogyria, Bilateral Temporooccipital:

(show all 22)
# Title Authors Year
1
Epilepsy surgery for polymicrogyria: a challenge to be undertaken. ( 30378553 )
2018
2
The role of surgery in refractory epilepsy secondary to polymicrogyria in the pediatric population. ( 30203507 )
2018
3
Congenital pial AVF along the falx cerebri with complete agenesis of the corpus callosum and bilateral parasagittal pachygyria-polymicrogyria secondary to chronic ischemia. ( 30539296 )
2018
4
Recurrent RTTN mutation leading to severe microcephaly, polymicrogyria and growth restriction. ( 30121372 )
2018
5
AP4S1 splice-site mutation in a case of spastic paraplegia type 52 with polymicrogyria. ( 30283821 )
2018
6
Neonatal HCMV-related polymicrogyria in seroimmune women: What is the optimal pregnancy management? ( 30316173 )
2018
7
GPR56 homozygous nonsense mutation p.R271* associated with phenotypic variability in bilateral frontoparietal polymicrogyria. ( 30511534 )
2018
8
The pathology of incipient polymicrogyria. ( 27406708 )
2017
9
MEGALENCEPHALY, POLYMICROGYRIA, POLYDACTYLY AND HYDROCEPHALUS (MPPH) SYNDROME: A NEW CASE WITH OCCIPITAL ENCEPHALOCELE AND CLEFT PALATE. ( 26852507 )
2015
10
Polymicrogyria: pathology, fetal origins and mechanisms. ( 25047116 )
2014
11
An autopsy case of polymicrogyria and intracerebral calcification with death by intracerebral hemorrhage. ( 21615522 )
2012
12
Focal polymicrogyria are associated with submicroscopic chromosomal rearrangements detected by CGH microarray analysis. ( 22766001 )
2012
13
Deletion of human GP1BB and SEPT5 is associated with Bernard-Soulier syndrome, platelet secretion defect, polymicrogyria, and developmental delay. ( 21800012 )
2011
14
Polymicrogyria in fetal alcohol syndrome. ( 19764076 )
2010
15
Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patients. ( 20403963 )
2010
16
Complex epileptic (Foix-Chavany-Marie like) syndrome in a child with neurofibromatosis type 1 (NF1) and bilateral (opercular and paracentral) polymicrogyria. ( 19141142 )
2009
17
Truncation of NHEJ1 in a patient with polymicrogyria. ( 17191205 )
2007
18
Unilateral polymicrogyria with ipsilateral cerebral hemiatrophy: a distinct syndrome? ( 17307715 )
2007
19
Polymicrogyria in monozygous twins and an elder sibling. ( 12828405 )
2003
20
Unilateral polymicrogyria: a common cause of hemiplegia of prenatal origin. ( 11376999 )
2001
21
Bilateral frontoparietal polymicrogyria and epilepsy. ( 10734259 )
2000
22
Syndrome of absent abdominal muscles: two cases with microcephaly, polymicrogyria, and cerebellar malformations. ( 4250700 )
1970

Variations for Polymicrogyria, Bilateral Temporooccipital

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

75
# Symbol AA change Variation ID SNP ID
1 FIG4 p.Asp783Val VAR_071959 rs587777716

ClinVar genetic disease variations for Polymicrogyria, Bilateral Temporooccipital:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 FIG4 NM_014845.5(FIG4): c.2348A> T (p.Asp783Val) single nucleotide variant Pathogenic rs587777716 GRCh38 Chromosome 6, 109791543: 109791543
2 FIG4 NM_014845.5(FIG4): c.2348A> T (p.Asp783Val) single nucleotide variant Pathogenic rs587777716 GRCh37 Chromosome 6, 110112746: 110112746
3 FIG4 NM_014845.5(FIG4): c.834A> T (p.Lys278Asn) single nucleotide variant Uncertain significance rs138048706 GRCh37 Chromosome 6, 110062705: 110062705
4 FIG4 NM_014845.5(FIG4): c.834A> T (p.Lys278Asn) single nucleotide variant Uncertain significance rs138048706 GRCh38 Chromosome 6, 109741502: 109741502

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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