PVNH8
MCID: PRV021
MIFTS: 21

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 56 73 29 6
Pvnh8 56 73

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

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


HPO:

31
periventricular nodular heterotopia 8:
Inheritance autosomal dominant inheritance


Classifications:



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 : 56 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:

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 delayed speech and language development 31 HP:0000750
4 spasticity 31 HP:0001257
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:

56
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:

40
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. 56 6
28868155 2016

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 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

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
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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