Periventricular Nodular Heterotopia 8 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Periventricular Nodular Heterotopia 8

MalaCards integrated aliases for Periventricular Nodular Heterotopia 8:

Name: Periventricular Nodular Heterotopia 8 ⁵⁷ ⁷⁴ ²⁹ ⁶

Pvnh8 ⁵⁷ ⁷⁴

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal dominant

Miscellaneous:
three patients have been reported (last curated november 2018)

HPO:

³²

periventricular nodular heterotopia 8:
Inheritance autosomal dominant inheritance

Classifications:

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

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 618185 PS300049

MeSH ⁴⁴ D054091

MedGen ⁴² C4748602 CN257784

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Summaries for Periventricular Nodular Heterotopia 8

UniProtKB/Swiss-Prot : ⁷⁴ Periventricular nodular heterotopia 8: A form of periventricular nodular heterotopia, a disorder resulting from a defect in the pattern of neuronal migration in which ectopic collections of neurons lie along the lateral ventricles of the brain or just beneath, contiguously or in isolated patches. PVNH8 is an autosomal dominant disease characterized by developmental disabilities, speech delay, seizures and attention deficit hyperactivity disorder.

MalaCards based summary : Periventricular Nodular Heterotopia 8, is also known as pvnh8. An important gene associated with Periventricular Nodular Heterotopia 8 is ARF1 (ADP Ribosylation Factor 1), and among its related pathways/superpathways are Vesicle-mediated transport and Transport to the Golgi and subsequent modification. Affiliated tissues include brain, and related phenotypes are seizures and microcephaly

OMIM : ⁵⁷ Periventricular nodular heterotopia-8 (PVNH8) is a neurologic disorder characterized by abnormal neuronal migration during brain development, resulting in delayed psychomotor development. Three patients have been reported (Ge et al., 2016). For a phenotypic description and a discussion of genetic heterogeneity of periventricular heterotopia, see PVNH1 (300049). (618185)

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Related Diseases for Periventricular Nodular Heterotopia 8

Diseases in the Periventricular Nodular Heterotopia family:

Periventricular Nodular Heterotopia 1	Periventricular Nodular Heterotopia 3
Periventricular Nodular Heterotopia 6	Periventricular Nodular Heterotopia 7
Periventricular Nodular Heterotopia 8

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Symptoms & Phenotypes for Periventricular Nodular Heterotopia 8

Human phenotypes related to Periventricular Nodular Heterotopia 8:

³² (show all 7)

#	Description	HPO Frequency	HPO Source Accession
1	seizures ³²	very rare (1%)	HP:0001250
2	microcephaly ³²	very rare (1%)	HP:0000252
3	spasticity ³²		HP:0001257
4	delayed speech and language development ³²		HP:0000750
5	attention deficit hyperactivity disorder ³²		HP:0007018
6	delayed myelination ³²		HP:0012448
7	periventricular nodular heterotopia ³²		HP:0032388

Symptoms via clinical synopsis from OMIM:

⁵⁷

Neurologic Behavioral Psychiatric Manifestations:
attention deficit hyperactivity disorder

Head And Neck Head:
microcephaly (in some patients)

Neurologic Central Nervous System:
delayed myelination
periventricular nodular heterotopia
speech delay
cortical thinning
diminished white matter
more

Clinical features from OMIM:

618185

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Drugs & Therapeutics for Periventricular Nodular Heterotopia 8

Search Clinical Trials , NIH Clinical Center for Periventricular Nodular Heterotopia 8

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Genetic Tests for Periventricular Nodular Heterotopia 8

Genetic tests related to Periventricular Nodular Heterotopia 8:

#	Genetic test	Affiliating Genes
1	Periventricular Nodular Heterotopia 8 ²⁹	ARF1

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Anatomical Context for Periventricular Nodular Heterotopia 8

MalaCards organs/tissues related to Periventricular Nodular Heterotopia 8:

⁴¹

Brain

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Publications for Periventricular Nodular Heterotopia 8

Articles related to Periventricular Nodular Heterotopia 8:

#	Title	Authors	PMID	Year
1	Missense-depleted regions in population exomes implicate ras superfamily nucleotide-binding protein alteration in patients with brain malformation. ⁸ ⁷¹	Ge X...Shieh JT	28868155	2016

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Genes for Periventricular Nodular Heterotopia 8

Genes related to Periventricular Nodular Heterotopia 8 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	ARF1	ADP Ribosylation Factor 1	Protein Coding	1328.68	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁴ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	28868155
2	MIR3620	MicroRNA 3620	RNA Gene	8.44	GeneCards inferred via : Variants (show sections)

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Variations for Periventricular Nodular Heterotopia 8

ClinVar genetic disease variations for Periventricular Nodular Heterotopia 8:

⁶

#	Gene	Variation	Type	Significance	GRCh37 Pos	GRCh38 Pos
1	ARF1	NM_001658.4(ARF1): c.103T> C (p.Tyr35His)	single nucleotide variant	Pathogenic	1:228284918-228284918	1:228097217-228097217
2	ARF1	NM_001658.4(ARF1): c.379A> G (p.Lys127Glu)	single nucleotide variant	Pathogenic	1:228285411-228285411	1:228097710-228097710
3	ARF1	NM_001658.4(ARF1): c.296G> A (p.Arg99His)	single nucleotide variant	Pathogenic	1:228285328-228285328	1:228097627-228097627

UniProtKB/Swiss-Prot genetic disease variations for Periventricular Nodular Heterotopia 8:

⁷⁴

#	Symbol	AA change	Variation ID	SNP ID
1	ARF1	p.Tyr35His	VAR_081272	rs879036238
2	ARF1	p.Lys127Glu	VAR_081274

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Expression for Periventricular Nodular Heterotopia 8

Search GEO for disease gene expression data for Periventricular Nodular Heterotopia 8.

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Pathways for Periventricular Nodular Heterotopia 8

Pathways related to Periventricular Nodular Heterotopia 8 according to GeneCards Suite gene sharing:

(show all 11)

#	Super pathways	Score	Top Affiliating Genes
1	Vesicle-mediated transport ⁶⁶ Show member pathways Membrane Trafficking ⁶⁶	12.6	MIR3620 ARF1
2	Transport to the Golgi and subsequent modification ⁶⁶ Show member pathways Asparagine N-linked glycosylation ⁶⁶ Cargo concentration in the ER ⁶⁶ COPII (Coat Protein 2) Mediated Vesicle Transport ⁶⁶ COPI-mediated anterograde transport ⁶⁶ ER to Golgi Anterograde Transport ⁶⁶ N-glycan trimming and elongation in the cis-Golgi ⁶⁶ Progressive trimming of alpha-1,2-linked mannose residues from Man9/8/7GlcNAc2 to produce Man5GlcNAc2 ⁶⁶	12.36	MIR3620 ARF1
3	Glycerophospholipid biosynthesis ⁶⁶ Show member pathways Acyl chain remodeling of CL ⁶⁶ Acyl chain remodeling of DAG and TAG ⁶⁶ Acyl chain remodelling of PG ⁶⁶ Acyl chain remodelling of PI ⁶⁶ Choline catabolism ⁶⁶ choline degradation ¹ glycerol-3-phosphate shuttle ¹ Glycerophospholipid metabolism ³⁷ Hydrolysis of LPC ⁶⁶ Hydrolysis of LPE ⁶⁶ phosphatidylserine biosynthesis I ¹ phosphatidylserine biosynthesis II ¹ Phospholipid metabolism ⁶⁶ Phosphonate and phosphinate metabolism ³⁷ Synthesis of CL ⁶⁶ Synthesis of PE ⁶⁶ Synthesis of PG ⁶⁶ Synthesis of PI ⁶⁶ Synthesis of PS ⁶⁶	12.19	MIR3620 ARF1
4	Golgi-to-ER retrograde transport ⁶⁶ Show member pathways COPI-dependent Golgi-to-ER retrograde traffic ⁶⁶ Intra-Golgi and retrograde Golgi-to-ER traffic ⁶⁶ Kinesins ⁶⁶	12.05	MIR3620 ARF1
5	Angiopoietin Like Protein 8 Regulatory Pathway ¹ Show member pathways Insulin Signaling ¹ Liver X Receptor Pathway ¹	11.89	MIR3620 ARF1
6	Clathrin derived vesicle budding ⁶⁶ Show member pathways Golgi Associated Vesicle Biogenesis ⁶⁶ Lysosome Vesicle Biogenesis ⁶⁶ trans-Golgi Network Vesicle Budding ⁶⁶	11.75	MIR3620 ARF1
7	Cell cycle ¹ ³⁷	11.68	MIR3620 ARF1
8	PI Metabolism ⁶⁶ Show member pathways Glycerophospholipid catabolism ⁶⁶ PI and PC transport between ER and Golgi membranes ⁶⁶ Synthesis of PIPs at the early endosome membrane ⁶⁶ Synthesis of PIPs at the ER membrane ⁶⁶ Synthesis of PIPs at the Golgi membrane ⁶⁶ Synthesis of PIPs at the late endosome membrane ⁶⁶ Synthesis of PIPs at the plasma membrane ⁶⁶	11.52	MIR3620 ARF1
9	MHC class II antigen presentation ⁶⁶	11.17	MIR3620 ARF1
10	Nef-mediates down modulation of cell surface receptors by recruiting them to clathrin adapters ⁶⁶ Show member pathways Inhibition of Ribosome Biogenesis by p19(ARF) ⁶⁴ Nef and signal transduction ⁶⁶ Nef Mediated CD4 Down-regulation ⁶⁶ Nef Mediated CD8 Down-regulation ⁶⁶ Nef mediated downregulation of CD28 cell surface expression ⁶⁶ Nef mediated downregulation of MHC class I complex cell surface expression ⁶⁶ The role of Nef in HIV-1 replication and disease pathogenesis ⁶⁶	10.91	MIR3620 ARF1
11	Intra-Golgi traffic ⁶⁶	10.28	MIR3620 ARF1

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GO Terms for Periventricular Nodular Heterotopia 8

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Sources for Periventricular Nodular Heterotopia 8

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

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¹⁶ DrugBank

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¹⁹ FMA

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

²⁹ GTR

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

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ TGDB

⁷¹ Tocris

⁷² UMLS

⁷³ UMLS via Orphanet

⁷⁴ UniProtKB/Swiss-Prot

⁷⁵ Wikipedia

Periventricular Nodular Heterotopia 8 (PVNH8)

Aliases & Classifications for Periventricular Nodular Heterotopia 8

MalaCards integrated aliases for Periventricular Nodular Heterotopia 8:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Periventricular Nodular Heterotopia 8

Related Diseases for Periventricular Nodular Heterotopia 8

Diseases in the Periventricular Nodular Heterotopia family:

Symptoms & Phenotypes for Periventricular Nodular Heterotopia 8

Human phenotypes related to Periventricular Nodular Heterotopia 8:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Periventricular Nodular Heterotopia 8

Genetic Tests for Periventricular Nodular Heterotopia 8

Genetic tests related to Periventricular Nodular Heterotopia 8:

Anatomical Context for Periventricular Nodular Heterotopia 8

MalaCards organs/tissues related to Periventricular Nodular Heterotopia 8:

Publications for Periventricular Nodular Heterotopia 8

Articles related to Periventricular Nodular Heterotopia 8:

Genes for Periventricular Nodular Heterotopia 8

Genes related to Periventricular Nodular Heterotopia 8 (1 elite genes):

Variations for Periventricular Nodular Heterotopia 8

ClinVar genetic disease variations for Periventricular Nodular Heterotopia 8:

UniProtKB/Swiss-Prot genetic disease variations for Periventricular Nodular Heterotopia 8:

Expression for Periventricular Nodular Heterotopia 8

Pathways for Periventricular Nodular Heterotopia 8

Pathways related to Periventricular Nodular Heterotopia 8 according to GeneCards Suite gene sharing:

GO Terms for Periventricular Nodular Heterotopia 8

Sources for Periventricular Nodular Heterotopia 8