PVNH8
MCID: PRV021
MIFTS: 24

Periventricular Nodular Heterotopia 8 (PVNH8)

Categories: Blood diseases, Cardiovascular diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases

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:



External Ids:

MeSH 44 D054091

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)

Related Diseases for Periventricular Nodular Heterotopia 8

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

Drugs & Therapeutics for Periventricular Nodular Heterotopia 8

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

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

Anatomical Context for Periventricular Nodular Heterotopia 8

MalaCards organs/tissues related to Periventricular Nodular Heterotopia 8:

41
Brain

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
28868155 2016

Variations for Periventricular Nodular Heterotopia 8

ClinVar genetic disease variations for Periventricular Nodular Heterotopia 8:

6
# Gene Variation Type Significance SNP ID 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

Expression for Periventricular Nodular Heterotopia 8

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

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
Show member pathways
12.6 MIR3620 ARF1
2
Show member pathways
12.36 MIR3620 ARF1
3
Show member pathways
12.19 MIR3620 ARF1
4
Show member pathways
12.05 MIR3620 ARF1
5
Show member pathways
11.89 MIR3620 ARF1
6
Show member pathways
11.75 MIR3620 ARF1
7 11.68 MIR3620 ARF1
8
Show member pathways
11.52 MIR3620 ARF1
9 11.17 MIR3620 ARF1
10
Show member pathways
10.91 MIR3620 ARF1
11 10.28 MIR3620 ARF1

GO Terms for Periventricular Nodular Heterotopia 8

Sources for Periventricular Nodular Heterotopia 8

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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