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null syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

null syndrome

MONDO:0017225

Also known as:PLP1 null syndromePelizaeus-Merzbacher disease, null syndrome

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Overview

The null syndrome is part of the Pelizaeus-Merzbacher disease (PMD) spectrum and is characterized by mild PMD features associated with demyelinating peripheral neuropathy.

Clinical Trials1 registered · 1 recruiting

ResearchLimited published research (1 article)

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 very common findings: Abnormality of peripheral nerve conduction, CNS hypomyelination, Demyelinating peripheral neuropathy, and Peripheral demyelination; and common findings: Decreased nerve conduction velocity, Ataxia, Difficulty walking (gait disturbance), and Progressive spastic paraplegia. 14 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	7	Demyelinating peripheral neuropathy, Ataxia, Difficulty walking (gait disturbance)

Prognosis

Phenotype severity distribution: 4 very common features, 4 common features.

Estimated prevalence: Unknown (Unknown prevalence).

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.

1 clinical trial registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

2 publications have been identified in PubMed for null syndrome. Kisho has analyzed 1 by research type. Research spans Basic Science / Preclinical (100%).

Recent Publications

Miolo G (2024). [PMID: 38732303](https://pubmed.ncbi.nlm.nih.gov/38732303/). *Diagnostics (Basel)*. [Basic Science / Preclinical]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 3:29 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:280234

GARD

Genetic and Rare Diseases Info Center

GARD:17292

Questions for Your Care Team

→Are any of the 1 active clinical trial a good fit for my situation?
→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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null syndrome

Overview

Clinical Presentation

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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