MCID: PRV016
MIFTS: 21

Periventricular Nodular Heterotopia 6

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Periventricular Nodular Heterotopia 6

MalaCards integrated aliases for Periventricular Nodular Heterotopia 6:

Name: Periventricular Nodular Heterotopia 6 54 24 71 29 69
Pvnh6 24 71

Characteristics:

OMIM:

54
Miscellaneous:
one patient has been reported (last curated november 2013)

Inheritance:
autosomal dominant


HPO:

32
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 strabismus, seizures and hypsarrhythmia. 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:

54

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

Head And Neck- Eyes:
strabismus


Clinical features from OMIM:

615544

Human phenotypes related to Periventricular Nodular Heterotopia 6:

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

UMLS symptoms related to Periventricular Nodular Heterotopia 6:


seizures

Drugs & Therapeutics for Periventricular Nodular Heterotopia 6

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Epilepsy Phenome/Genome Project Unknown status NCT00552045

Search NIH Clinical Center for Periventricular Nodular Heterotopia 6

Genetic Tests for Periventricular Nodular Heterotopia 6

Genetic tests related to Periventricular Nodular Heterotopia 6:

id Genetic test Affiliating Genes
1 Periventricular Nodular Heterotopia 6 29 24 ERMARD

Anatomical Context for Periventricular Nodular Heterotopia 6

MalaCards organs/tissues related to Periventricular Nodular Heterotopia 6:

39
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
id Symbol AA change Variation ID SNP ID
1 ERMARD p.Ile377Asn VAR_070433 rs398122410

ClinVar genetic disease variations for Periventricular Nodular Heterotopia 6:

6
id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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