Polymicrogyria, Bilateral Temporooccipital disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases
Anatomical: Neuronal diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations of the nervous system

Other congenital malformations of brain

Other reduction deformities of brain

Orphanet: ⁵⁹

Rare neurological diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM ⁵⁷ 612691

Orphanet ⁵⁹ ORPHA208441

ICD10 via Orphanet ³⁴ Q04.3

MedGen ⁴² C4013648 C2675191

MeSH ⁴⁴ D065706

SNOMED-CT via HPO ⁶⁹ 258211005 248004009 61372001 more

UMLS ⁷³ C4013648 C0266464

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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

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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 129)

#	Related Disease	Score
1	polymicrogyria	12.5
2	megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	12.5
3	megalencephaly-capillary malformation-polymicrogyria syndrome	12.4
4	polymicrogyria, bilateral frontoparietal	12.4
5	polymicrogyria, bilateral perisylvian, x-linked	12.3
6	polymicrogyria, bilateral perisylvian, autosomal recessive	12.2
7	bilateral generalized polymicrogyria	12.2
8	microcephaly, short stature, and polymicrogyria with or without seizures	12.2
9	bilateral frontal polymicrogyria	12.2
10	polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis	12.2
11	megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	12.2
12	megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3	12.2
13	unilateral polymicrogyria	12.0
14	pseudo-torch syndrome 1	11.9
15	bilateral polymicrogyria	11.9
16	cortical dysplasia, complex, with other brain malformations 8	11.9
17	unilateral focal polymicrogyria	11.9
18	cortical dysplasia, complex, with other brain malformations 7	11.9
19	agyria pachygyria polymicrogyria	11.8
20	bilateral parasagittal parieto-occipital polymicrogyria	11.8
21	polymicrogyria turricephaly hypogenitalism	11.8
22	microcephaly-polymicrogyria-corpus callosum agenesis syndrome	11.8
23	unilateral hemispheric polymicrogyria	11.8
24	cortical malformations, occipital	11.5
25	muscular dystrophy-dystroglycanopathy , type a, 4	11.1
26	band heterotopia	11.1
27	neuronal migration disorders	11.1
28	congenital intrauterine infection-like syndrome	10.9
29	cortical dysplasia, complex, with other brain malformations 1	10.9
30	aicardi-goutieres syndrome 1	10.8
31	galloway-mowat syndrome 1	10.8
32	galloway-mowat syndrome 2, x-linked	10.8
33	aicardi syndrome	10.8
34	cortical dysplasia, complex, with other brain malformations 2	10.8
35	spinal muscular atrophy, lower extremity-predominant, 2, autosomal dominant	10.8
36	cortical dysplasia, complex, with other brain malformations 6	10.8
37	peho-like syndrome	10.8
38	galloway-mowat syndrome 3	10.8
39	galloway-mowat syndrome 4	10.8
40	galloway-mowat syndrome 5	10.8
41	complex cortical dysplasia with other brain malformations	10.8
42	epilepsy	10.4
43	megalencephaly	10.3
44	hydrocephalus	10.2
45	polydactyly	10.2
46	schizencephaly	10.0
47	periventricular nodular heterotopia	10.0
48	pachygyria	10.0
49	neuronitis	10.0
50	status epilepticus	9.9

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

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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 6)

#	Description	HPO Source Accession
1	ventriculomegaly ³²	HP:0002119
2	aggressive behavior ³²	HP:0000718
3	polymicrogyria ³²	HP:0002126
4	focal seizures with impairment of consciousness or awareness ³²	HP:0002384
5	status epilepticus ³²	HP:0002133
6	visual hallucinations ³²	HP:0002367

UMLS symptoms related to Polymicrogyria, Bilateral Temporooccipital:

seizures, hallucinations, visual

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Drugs & Therapeutics for Polymicrogyria, Bilateral Temporooccipital

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

Cochrane evidence based reviews: polymicrogyria

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Genetic Tests for Polymicrogyria, Bilateral Temporooccipital

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

MalaCards organs/tissues related to Polymicrogyria, Bilateral Temporooccipital:

⁴¹

Brain

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Publications for Polymicrogyria, Bilateral Temporooccipital

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Genes for Polymicrogyria, Bilateral Temporooccipital

Genes related to Polymicrogyria, Bilateral Temporooccipital (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	FIG4	FIG4 Phosphoinositide 5-Phosphatase	Protein Coding	1727.91	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation (loss of function) ⁵⁹ Causative variation ⁷⁵ Genetic Tests ²⁹ Unconfirmed association ⁵⁷ GeneCards inferred via : Disorders Variants (show sections)	18758830 24598713

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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

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Expression for Polymicrogyria, Bilateral Temporooccipital

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

¹ BioSystems

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²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

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³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

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⁴⁸ NCBI Bookshelf

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⁵² NIH Clinical Center

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⁵⁴ NINDS

⁵⁵ Novoseek

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⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

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⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia