PVNH6
MCID: PRV016
MIFTS: 21

Periventricular Nodular Heterotopia 6 (PVNH6)

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

Aliases & Classifications for Periventricular Nodular Heterotopia 6

MalaCards integrated aliases for Periventricular Nodular Heterotopia 6:

Name: Periventricular Nodular Heterotopia 6 58 76 30 6 74
Pvnh6 58 76
Heterotopia, Nodular, Periventricular, Type 6 41

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
one patient has been reported (last curated november 2013)


HPO:

33
periventricular nodular heterotopia 6:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Periventricular Nodular Heterotopia 6

UniProtKB/Swiss-Prot : 76 Periventricular nodular heterotopia 6: 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. PVNH6 results in delayed psychomotor development, delayed speech, strabismus, and onset of seizures with hypsarrhythmia in early infancy.

MalaCards based summary : Periventricular Nodular Heterotopia 6, is also known as pvnh6, and has symptoms including seizures An important gene associated with Periventricular Nodular Heterotopia 6 is ERMARD (ER Membrane Associated RNA Degradation). Affiliated tissues include brain, skin and bone, and related phenotypes are seizures and global developmental delay

Description from OMIM: 615544

Related Diseases for Periventricular Nodular Heterotopia 6

Symptoms & Phenotypes for Periventricular Nodular Heterotopia 6

Human phenotypes related to Periventricular Nodular Heterotopia 6:

33 (show all 6)
# Description HPO Frequency HPO Source Accession
1 seizures 33 HP:0001250
2 global developmental delay 33 HP:0001263
3 delayed speech and language development 33 HP:0000750
4 strabismus 33 HP:0000486
5 hypsarrhythmia 33 HP:0002521
6 gray matter heterotopia 33 HP:0002282

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
seizures
hypsarrhythmia
delayed psychomotor development
delayed speech
periventricular nodular heterotopia

Head And Neck Eyes:
strabismus

Clinical features from OMIM:

615544

UMLS symptoms related to Periventricular Nodular Heterotopia 6:


seizures

Drugs & Therapeutics for Periventricular Nodular Heterotopia 6

Search Clinical Trials , NIH Clinical Center for Periventricular Nodular Heterotopia 6

Genetic Tests for Periventricular Nodular Heterotopia 6

Genetic tests related to Periventricular Nodular Heterotopia 6:

# Genetic test Affiliating Genes
1 Periventricular Nodular Heterotopia 6 30 ERMARD

Anatomical Context for Periventricular Nodular Heterotopia 6

MalaCards organs/tissues related to Periventricular Nodular Heterotopia 6:

42
Brain, Skin, Bone

Publications for Periventricular Nodular Heterotopia 6

Articles related to Periventricular Nodular Heterotopia 6:

# Title Authors Year
1
Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene. ( 24056535 )
2013

Variations for Periventricular Nodular Heterotopia 6

UniProtKB/Swiss-Prot genetic disease variations for Periventricular Nodular Heterotopia 6:

76
# Symbol AA change Variation ID SNP ID
1 ERMARD p.Ile377Asn VAR_070433 rs398122410

ClinVar genetic disease variations for Periventricular Nodular Heterotopia 6:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ERMARD NM_001278532.1(ERMARD): c.752T> A (p.Ile251Asn) single nucleotide variant Pathogenic rs398122410 GRCh37 Chromosome 6, 170169706: 170169706
2 ERMARD NM_001278532.1(ERMARD): c.752T> A (p.Ile251Asn) single nucleotide variant Pathogenic rs398122410 GRCh38 Chromosome 6, 169769610: 169769610

Expression for Periventricular Nodular Heterotopia 6

Search GEO for disease gene expression data for Periventricular Nodular Heterotopia 6.

Pathways for Periventricular Nodular Heterotopia 6

GO Terms for Periventricular Nodular Heterotopia 6

Sources for Periventricular Nodular Heterotopia 6

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
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
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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