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periventricular nodular heterotopia 6 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

periventricular nodular heterotopia 6

MONDO:0014240

Also known as:ERMARD periventricular nodular heterotopiaperiventricular nodular heterotopia caused by mutation in ERMARDperiventricular nodular heterotopia type 6

Overview

Any periventricular nodular heterotopia in which the cause of the disease is a mutation in the ERMARD gene.

GeneticsAutosomal dominant · ERMARD (chr 6)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Hypsarrhythmia, Delayed speech and language development, Strabismus, and Seizure and others.

Organ System	Phenotype Count	Example Features
Brain and nerves	4	Delayed speech and language development, Seizure, Mild global developmental delay

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

ERMARD encodes ER membrane associated RNA degradation (678 aa). May play a role in neuronal migration during embryonic development Highest expression in Testis (54.6 TPM) and Ovary (36.2 TPM).

Periventricular nodular heterotopia 6 is associated with mutations in the ERMARD gene on chromosome 6.

ERMARD is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for ERMARD is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for periventricular nodular heterotopia 6 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 8 always present features.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for periventricular nodular heterotopia 6.

12 publications have been identified in PubMed for periventricular nodular heterotopia 6. Research spans Case Report / Case Series (42%), Epidemiology / Natural History (25%), and Diagnostic / Biomarker (17%).

Research Type	Count	% of Total
Patient case studies	5	42%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 7:50 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615544

GARD

Genetic and Rare Diseases Info Center

GARD:15983

Questions for Your Care Team

→Should I pursue genetic testing for ERMARD, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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Kisho

periventricular nodular heterotopia 6

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

periventricular nodular heterotopia 6

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications