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periventricular nodular heterotopia 9 (PVNH9) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

periventricular nodular heterotopia 9

MONDO:0030061

Also known as:PVNH9

Overview

GeneticsAutosomal dominant · MAP1B (chr 5)

OnsetCHILDHOOD

ResearchLimited published research (3 articles)

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: Epicanthus, Everted upper lip vermilion, Prominent fingertip pads, and Gray matter heterotopia and others; and common findings: Dyslexia, Interictal epileptiform activity, Mild global developmental delay, and Intellectual disability and others. 34 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	9	Interictal epileptiform activity, Mild global developmental delay, Intellectual disability

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.

MAP1B encodes microtubule associated protein 1B (2,468 aa). Facilitates tyrosination of alpha-tubulin in neuronal microtubules. Highest expression in Brain Cerebellar Hemisphere (262.6 TPM) and Brain Cerebellum (227.2 TPM).

Periventricular nodular heterotopia 9 is associated with mutations in the MAP1B gene on chromosome 5.

MAP1B is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for MAP1B is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 19 always present features, 10 common 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 9.

3 publications have been identified in PubMed for periventricular nodular heterotopia 9. Research spans Review / Meta-Analysis (67%) and Basic Science / Preclinical (33%).

Recent Publications

Archer J (2026). [PMID: 40874586](https://pubmed.ncbi.nlm.nih.gov/40874586/). *Clin Genet*. [Basic Science / Preclinical]
Zhou C (2025). [PMID: 40802165](https://pubmed.ncbi.nlm.nih.gov/40802165/). *Neurol Sci*. [Review / Meta-Analysis]
Russ JB (2025). [PMID: 40048696](https://pubmed.ncbi.nlm.nih.gov/40048696/). *Brain*. [Review / Meta-Analysis]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 11:54 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618918

GARD

Genetic and Rare Diseases Info Center

GARD:16394

Questions for Your Care Team

→Should I pursue genetic testing for MAP1B, 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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periventricular nodular heterotopia 9

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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