PVNH6
MCID: PRV016
MIFTS: 19

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 72 29 6 70
Pvnh6 57 72
Heterotopia, Nodular, Periventricular, Type 6 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
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 : 72 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). Related phenotypes are global developmental delay and delayed speech and language development

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:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 global developmental delay 31 HP:0001263
2 delayed speech and language development 31 HP:0000750
3 strabismus 31 HP:0000486
4 gray matter heterotopia 31 HP:0002282
5 hypsarrhythmia 31 HP:0002521
6 periventricular nodular heterotopia 31 HP:0032388
7 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
seizures
hypsarrhythmia
periventricular nodular heterotopia
delayed psychomotor development
delayed speech

Head And Neck Eyes:
strabismus

Clinical features from OMIM®:

615544 (Updated 05-Apr-2021)

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

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. 57 6
24056535 2013

Variations for Periventricular Nodular Heterotopia 6

ClinVar genetic disease variations for Periventricular Nodular Heterotopia 6:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ERMARD NM_018341.3(ERMARD):c.1130T>A (p.Ile377Asn) SNV Pathogenic 88869 rs398122410 GRCh37: 6:170169706-170169706
GRCh38: 6:169769610-169769610
2 ERMARD NM_018341.3(ERMARD):c.1072del (p.Asp358fs) Deletion Uncertain significance 915337 GRCh37: 6:170169646-170169646
GRCh38: 6:169769550-169769550
3 ERMARD NM_018341.3(ERMARD):c.1394+1G>T SNV Uncertain significance 1030652 GRCh37: 6:170175443-170175443
GRCh38: 6:169775347-169775347
4 ERMARD NM_018341.3(ERMARD):c.313G>C (p.Glu105Gln) SNV Likely benign 977896 GRCh37: 6:170155516-170155516
GRCh38: 6:169755420-169755420

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

72
# 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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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