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

Sources

Aliases & Classifications for Periventricular Nodular Heterotopia 8

MalaCards integrated aliases for Periventricular Nodular Heterotopia 8:

Name: Periventricular Nodular Heterotopia 8 ⁵⁸ ⁷⁶ ⁶

Pvnh8 ⁵⁸ ⁷⁶

Characteristics:

OMIM:

⁵⁸

Inheritance:
autosomal dominant

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

Classifications:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases
Anatomical: Neuronal diseases Skin diseases Bone diseases Cardiovascular diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁸ 618185

MeSH ⁴⁵ D054091

Sources

Summaries for Periventricular Nodular Heterotopia 8

UniProtKB/Swiss-Prot : ⁷⁶ 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). Affiliated tissues include brain.

OMIM : ⁵⁸ 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)

Sources

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	Flna-Related Periventricular Nodular Heterotopia

Sources

Symptoms & Phenotypes for Periventricular Nodular Heterotopia 8

Symptoms via clinical synopsis from OMIM:

⁵⁸

Neurologic Behavioral Psychiatric Manifestations:
attention deficit hyperactivity disorder

Head And Neck Head:
microcephaly (in some patients)

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

Clinical features from OMIM:

618185

Sources

Drugs & Therapeutics for Periventricular Nodular Heterotopia 8

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

Sources

Genetic Tests for Periventricular Nodular Heterotopia 8

Sources

Anatomical Context for Periventricular Nodular Heterotopia 8

MalaCards organs/tissues related to Periventricular Nodular Heterotopia 8:

⁴²

Brain

Sources

Publications for Periventricular Nodular Heterotopia 8

Sources

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	1228.4	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative variation ⁷⁶ GeneCards inferred via : Disorders Variants (show sections)	28868155

Sources

Variations for Periventricular Nodular Heterotopia 8

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

⁷⁶

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

ClinVar genetic disease variations for Periventricular Nodular Heterotopia 8:

⁶

#	Gene	Variation	Type	Significance	Assembly	Location
1	ARF1	NM_001024226.1(ARF1): c.103T> C (p.Tyr35His)	single nucleotide variant	Pathogenic	GRCh38	Chromosome 1, 228097217: 228097217
2	ARF1	NM_001024226.1(ARF1): c.103T> C (p.Tyr35His)	single nucleotide variant	Pathogenic	GRCh37	Chromosome 1, 228284918: 228284918
3	ARF1	NM_001024226.1(ARF1): c.379A> G (p.Lys127Glu)	single nucleotide variant	Pathogenic	GRCh38	Chromosome 1, 228097710: 228097710
4	ARF1	NM_001024226.1(ARF1): c.379A> G (p.Lys127Glu)	single nucleotide variant	Pathogenic	GRCh37	Chromosome 1, 228285411: 228285411
5	ARF1	NM_001024226.1(ARF1): c.296G> A (p.Arg99His)	single nucleotide variant	Pathogenic	GRCh37	Chromosome 1, 228285328: 228285328
6	ARF1	NM_001024226.1(ARF1): c.296G> A (p.Arg99His)	single nucleotide variant	Pathogenic	GRCh38	Chromosome 1, 228097627: 228097627

Sources

Expression for Periventricular Nodular Heterotopia 8

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

Sources

Pathways for Periventricular Nodular Heterotopia 8

Sources

GO Terms for Periventricular Nodular Heterotopia 8

Sources

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

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FDA Approved Drugs

²⁰ FMA

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ Genetics Home Reference

²⁷ GenomeRNAi

²⁸ GEO DataSets

²⁹ GO

³⁰ GTR

³¹ HGMD

³² HMDB

³³ HPO

³⁴ ICD10

³⁵ ICD10 via Orphanet

³⁶ ICD9CM

³⁷ IUPHAR

³⁸ KEGG

³⁹ LifeMap

⁴⁰ LncRNADisease

⁴¹ LOVD

⁴² MalaCards

⁴³ MedGen

⁴⁴ MedlinePlus

⁴⁵ MeSH

⁴⁶ MESH via Orphanet

⁴⁷ MGI

⁴⁸ miR2Disease

⁴⁹ NCBI Bookshelf

⁵⁰ NCI

⁵¹ NCIt

⁵² NDF-RT

⁵³ NIH Clinical Center

⁵⁴ NIH Rare Diseases

⁵⁵ NINDS

⁵⁶ Novoseek

⁵⁷ Novus Biologicals

⁵⁸ OMIM

⁵⁹ OMIM via Orphanet

⁶⁰ Orphanet

⁶¹ PathCards

⁶² PharmGKB

⁶³ PubMed

⁶⁴ PubMed Health

⁶⁵ QIAGEN

⁶⁶ R&D Systems

⁶⁷ Reactome

⁶⁸ Sino Biological

⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia

Periventricular Nodular Heterotopia 8 (PVNH8)

Aliases & Classifications for Periventricular Nodular Heterotopia 8

MalaCards integrated aliases for Periventricular Nodular Heterotopia 8:

Characteristics:

OMIM:

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

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Periventricular Nodular Heterotopia 8

Genetic Tests for 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

Genes for Periventricular Nodular Heterotopia 8

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

Variations for Periventricular Nodular Heterotopia 8

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

ClinVar genetic disease variations for Periventricular Nodular Heterotopia 8:

Expression for Periventricular Nodular Heterotopia 8

Pathways for Periventricular Nodular Heterotopia 8

GO Terms for Periventricular Nodular Heterotopia 8

Sources for Periventricular Nodular Heterotopia 8