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disorder of manganese transport - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

disorder of manganese transport

MONDO:0017766

Overview

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.

No HPO annotations are available for this condition.

GeneReviews

Clinical Guidance

To date, 48 individuals have been identified with biallelic pathogenic variants in SLC30A10 [, , , ]. The following description of the phenotypic features associated with this condition is based on these reports. Table 2. Hypermanganesemia with Dystonia 1: Frequency of Select Features

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

GeneReviews

Diagnostic Criteria

Hypermanganesemia with dystonia 1 (HMNDYT1) presents as a movement disorder associated with manganese accumulation in the basal ganglia. No consensus clinical diagnostic criteria have been published.

Suggestive Findings

HMNDYT1 should be suspected in individuals with typical clinical, brain MRI, and laboratory findings and family history.

Clinical Findings

An early- and a late-onset form exist:

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for disorder of manganese transport. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

No clinical practice guidelines for hypermanganesemia with dystonia 1 (HMNDYT1) have been published. Evaluations Following Initial Diagnosis To establish the extent of disease and needs of an individual diagnosed with HMNDYT1, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended. Table 4. Recommended Evaluations Following Initial Diagnosis in Individuals with Hypermanganesemia with Dystonia 1

Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

Table 6.

Recommended Surveillance for Individuals with Hypermanganesemia with Dystonia 1

System/Concern | Evaluation | Frequency

Hypermanganesemia chronic liver disease

| Liver function tests; hemoglobin; iron indices; whole-blood manganese (if available) | Every 3 mos

Follow up w/neurologist hepatologist (w/repeat assessment of brain MRI liver ultrasound biopsy) | When clinically indicated by worsening liver function /or for monitoring treatment at least every 6-12 mos

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 disorder of manganese transport.

105 publications have been identified in PubMed for disorder of manganese transport. Research spans Basic Science / Preclinical (53%), Review / Meta-Analysis (22%), and Epidemiology / Natural History (10%).

Research Type	Count	% of Total
Laboratory research	56	53%

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 5:36 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:309851

GARD

Genetic and Rare Diseases Info Center

GARD:21358

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

System/Concern	Evaluation	Comment
Hypermanganesemia	Whole-blood manganese levels	Establish baseline.
Liver disease	Liver function tests, liver ultrasound exam, liver biopsy if indicated	Consultation w/hepatologist is advised.
Iron status	Total iron binding capacity, ferritin	Monitoring of iron supplementation
Genetic counseling	By genetics professionals1	To obtain a pedigree inform affected persons families re nature, MOI, implications of HMNDYT1 in order to facilitate medical personal decision making Family support resources
Treatment of Manifestations in Individuals with Hypermanganesemia with Dystonia 1 Manifestation/Concern	Treatment	Considerations/Other
Hypermanganesemia	Chelation therapy w/intravenous disodium calcium edetate	Regular chelation therapy can stabilize blood manganese levels, improve neurologic symptoms, halt liver disease. Short term. The response of a person to disodium calcium edetate is determined by a single 5-day course of 2x/d disodium calcium edetate at 20 mg/kg/dose (made up in 250 mL of 0.
Hypermanganesemia polycythemia	Iron therapy: supplementation w/iron given orally per standard protocols for iron supplementation for iron deficiency	Iron is a competitive inhibitor of intestinal manganese uptake; despite normal iron levels, iron therapy can blood manganese levels resolve polycythemia.
Dystonia, dysarthria, rigidity	PT (to prevent contractures maintain ambulation), OT, /or speech therapy; use of adaptive aids (e.g., walker or wheelchair for gait abnormalities) assistive communication devices	Symptomatic treatment w/anti-spasticity medications L-dopa has been attempted w/limited success.
Inadequate nutrition due to progressive dystonia	Gastrostomy tube placement once an adequate oral diet can no longer be maintained	To prevent assoc aspiration pneumonia, a tracheostomy may be required.

Kisho

disorder of manganese transport

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Clinical Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Hypermanganesemia chronic liver disease

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Brain MRI

Differential Diagnosis

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Recent Publications

disorder of manganese transport

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Clinical Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Hypermanganesemia chronic liver disease

Research Landscape

Medical References

External Resources

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Brain MRI

Differential Diagnosis

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Recent Publications