PVNH8
MCID: PRV021
MIFTS: 20

Periventricular Nodular Heterotopia 8 (PVNH8)

Categories: Bone diseases, Cardiovascular diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases, Skin diseases

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:



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, skin and bone, and related phenotypes are seizures and spasticity

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)

Related Diseases for Periventricular Nodular Heterotopia 8

Symptoms & Phenotypes for Periventricular Nodular Heterotopia 8

Human phenotypes related to Periventricular Nodular Heterotopia 8:

33
# Description HPO Frequency HPO Source Accession
1 seizures 33 very rare (1%) HP:0001250
2 spasticity 33 HP:0001257
3 delayed speech and language development 33 HP:0000750
4 delayed myelination 33 HP:0012448

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

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

Anatomical Context for Periventricular Nodular Heterotopia 8

MalaCards organs/tissues related to Periventricular Nodular Heterotopia 8:

42
Brain, Skin, Bone

Publications for Periventricular Nodular Heterotopia 8

Articles related to Periventricular Nodular Heterotopia 8:

# Title Authors Year
1
Missense-depleted regions in population exomes implicate ras superfamily nucleotide-binding protein alteration in patients with brain malformation. ( 28868155 )
2016

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 rs879036238
2 ARF1 p.Lys127Glu VAR_081274

ClinVar genetic disease variations for Periventricular Nodular Heterotopia 8:

6
# Gene Variation Type Significance SNP ID 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

Expression for Periventricular Nodular Heterotopia 8

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

Pathways for Periventricular Nodular Heterotopia 8

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
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45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
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58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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