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leukodystrophy, hypomyelinating, 16 (HLD16) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

leukodystrophy, hypomyelinating, 16

MONDO:0054791

Also known as:HLD16

Overview

GeneticsAutosomal dominant · TMEM106B (chr 7)

ResearchLimited published research (8 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: Delayed CNS myelination and Nystagmus; and common findings: Seizure, Gait ataxia, Low muscle tone (hypotonia), and Intention tremor and others. 35 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	13	Dystonia, Shuffling gait, Seizure

Genetic Landscape

TMEM106B function has not been fully characterized.

Leukodystrophy, hypomyelinating, 16 is caused by mutations in the TMEM106B gene on chromosome 7.

Diagnosis

Genetic testing for TMEM106B is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 2 always present features, 7 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 leukodystrophy, hypomyelinating, 16.

8 publications have been identified in PubMed for leukodystrophy, hypomyelinating, 16. Research spans Basic Science / Preclinical (50%), Case Report / Case Series (25%), and Other (13%).

Recent Publications

Drobňaková S (2026). [PMID: 42195294](https://pubmed.ncbi.nlm.nih.gov/42195294/). *Life (Basel)*. [Other]
Mitsutake A (2026). [PMID: 41721156](https://pubmed.ncbi.nlm.nih.gov/41721156/). *Neurogenetics*. [Basic Science / Preclinical]
Breijo M (2026). [PMID: 41914324](https://pubmed.ncbi.nlm.nih.gov/41914324/). *Lab Anim*. [Basic Science / Preclinical]
Büyükyılmaz G (2025). [PMID: 36974356](https://pubmed.ncbi.nlm.nih.gov/36974356/). *J Clin Res Pediatr Endocrinol*. [Case Report / Case Series]
Alghamdi M (2025). [PMID: 40199965](https://pubmed.ncbi.nlm.nih.gov/40199965/). *J Hum Genet*. [Basic Science / Preclinical]

Data assembled from 6 of 12 sources · Last updated Sep 18, 2026, 8:48 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:617964

Questions for Your Care Team

→Should I pursue genetic testing for TMEM106B, 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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leukodystrophy, hypomyelinating, 16

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

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Questions for Your Care Team

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