MCID: PRV016
MIFTS: 18

Periventricular Nodular Heterotopia 6

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

Aliases & Classifications for Periventricular Nodular Heterotopia 6

MalaCards integrated aliases for Periventricular Nodular Heterotopia 6:

Name: Periventricular Nodular Heterotopia 6 53 71 28 69
Pvnh6 53 71

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant

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


HPO:

31
periventricular nodular heterotopia 6:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Periventricular Nodular Heterotopia 6

UniProtKB/Swiss-Prot : 71 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, global developmental delay and delayed speech and language development. An important gene associated with Periventricular Nodular Heterotopia 6 is ERMARD (ER Membrane Associated RNA Degradation). Affiliated tissues include brain.

Description from OMIM: 615544

Related Diseases for Periventricular Nodular Heterotopia 6

Symptoms & Phenotypes for Periventricular Nodular Heterotopia 6

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Eyes:
strabismus

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


Clinical features from OMIM:

615544

Human phenotypes related to Periventricular Nodular Heterotopia 6:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 seizures 31 HP:0001250
2 global developmental delay 31 HP:0001263
3 delayed speech and language development 31 HP:0000750
4 strabismus 31 HP:0000486
5 heterotopia 31 HP:0002282
6 hypsarrhythmia 31 HP:0002521

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 28 ERMARD

Anatomical Context for Periventricular Nodular Heterotopia 6

MalaCards organs/tissues related to Periventricular Nodular Heterotopia 6:

38
Brain

Publications for Periventricular Nodular Heterotopia 6

Variations for Periventricular Nodular Heterotopia 6

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

71
# 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

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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