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 ⁷³ ²⁹ ⁶

Pvnh8 ⁵⁷ ⁷³

Characteristics:

OMIM®:

⁵⁷ (Updated 05-Mar-2021)

Inheritance:
autosomal dominant

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

HPO:

³¹

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

OMIM Phenotypic Series ⁵⁷ PS300049

MeSH ⁴⁴ D054091

MedGen ⁴¹ C4748602 CN257784

SNOMED-CT via HPO ⁶⁸ 128613002 135810007 162294008 more

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Summaries for Periventricular Nodular Heterotopia 8

UniProtKB/Swiss-Prot : ⁷³ 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, and related phenotypes are microcephaly and seizure

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) (Updated 05-Mar-2021)

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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	Periventricular Nodular Heterotopia 9
Flna-Related Periventricular Nodular Heterotopia

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Symptoms & Phenotypes for Periventricular Nodular Heterotopia 8

Human phenotypes related to Periventricular Nodular Heterotopia 8:

³¹ (show all 7)

#	Description	HPO Frequency	HPO Source Accession
1	microcephaly ³¹	very rare (1%)	HP:0000252
2	seizure ³¹	very rare (1%)	HP:0001250
3	spasticity ³¹		HP:0001257
4	delayed speech and language development ³¹		HP:0000750
5	attention deficit hyperactivity disorder ³¹		HP:0007018
6	delayed myelination ³¹		HP:0012448
7	periventricular nodular heterotopia ³¹		HP:0032388

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 05-Mar-2021)

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 (Updated 05-Mar-2021)

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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:

⁴⁰

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. ⁵⁷ ⁶	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	PubMed IDs
1	ARF1	ADP Ribosylation Factor 1	Protein Coding	1343.21	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷³ Genetic Tests ²⁹ Likely pathogenic ⁶ GeneCards inferred via : Disorders Variants (show sections)	28868155

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Variations for Periventricular Nodular Heterotopia 8

ClinVar genetic disease variations for Periventricular Nodular Heterotopia 8:

⁶

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	ARF1	NM_001658.4(ARF1):c.103T>C (p.Tyr35His)	SNV	Pathogenic	590332	rs879036238	1:228284918-228284918	1:228097217-228097217
2	ARF1	NM_001658.4(ARF1):c.379A>G (p.Lys127Glu)	SNV	Pathogenic	590333	rs1558087795	1:228285411-228285411	1:228097710-228097710
3	ARF1	NM_001658.4(ARF1):c.296G>A (p.Arg99His)	SNV	Pathogenic	590334	rs1558087712	1:228285328-228285328	1:228097627-228097627
4	ARF1	NM_001658.4(ARF1):c.143C>T (p.Thr48Ile)	SNV	Likely pathogenic	690284	rs1571844539	1:228284958-228284958	1:228097257-228097257

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

⁷³

#	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

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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

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¹² Disease Ontology

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²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

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²⁷ GEO DataSets

²⁸ GO

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³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

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⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Mar-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

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⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ 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

GO Terms for Periventricular Nodular Heterotopia 8

Sources for Periventricular Nodular Heterotopia 8