PVNH6
MCID: PRV016
MIFTS: 18

Periventricular Nodular Heterotopia 6 (PVNH6)

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

Aliases & Classifications for Periventricular Nodular Heterotopia 6

MalaCards integrated aliases for Periventricular Nodular Heterotopia 6:

Name: Periventricular Nodular Heterotopia 6 57 74 29 6 72
Pvnh6 57 74
Heterotopia, Nodular, Periventricular, Type 6 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
periventricular nodular heterotopia 6:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

MeSH 44 D054091
UMLS 72 C3809872

Summaries for Periventricular Nodular Heterotopia 6

UniProtKB/Swiss-Prot : 74 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, and related phenotypes are seizures and global developmental delay

More information from OMIM: 615544 PS300049

Related Diseases for Periventricular Nodular Heterotopia 6

Symptoms & Phenotypes for Periventricular Nodular Heterotopia 6

Human phenotypes related to Periventricular Nodular Heterotopia 6:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 seizures 32 HP:0001250
2 global developmental delay 32 HP:0001263
3 delayed speech and language development 32 HP:0000750
4 strabismus 32 HP:0000486
5 hypsarrhythmia 32 HP:0002521
6 gray matter heterotopia 32 HP:0002282
7 periventricular nodular heterotopia 32 HP:0032388

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
seizures
hypsarrhythmia
periventricular nodular heterotopia
delayed psychomotor development
delayed speech

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 29 ERMARD

Anatomical Context for Periventricular Nodular Heterotopia 6

MalaCards organs/tissues related to Periventricular Nodular Heterotopia 6:

41
Brain

Publications for Periventricular Nodular Heterotopia 6

Articles related to Periventricular Nodular Heterotopia 6:

# Title Authors PMID Year
1
Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene. 8 71
24056535 2013

Variations for Periventricular Nodular Heterotopia 6

ClinVar genetic disease variations for Periventricular Nodular Heterotopia 6:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 ERMARD NM_018341.3(ERMARD): c.1130T> A (p.Ile377Asn) single nucleotide variant Pathogenic rs398122410 6:170169706-170169706 6:169769610-169769610

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

74
# Symbol AA change Variation ID SNP ID
1 ERMARD p.Ile377Asn VAR_070433 rs398122410

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
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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