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disorder of iron metabolism and transport - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

disorder of iron metabolism and transport

MONDO:0017763

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

The clinical manifestations of aceruloplasminemia are retinal degeneration, diabetes mellitus (DM), and neurologic signs/symptoms . Individuals with aceruloplasminemia often present with iron-restricted microcytic anemia prior to onset of DM or neurologic signs/symptoms. Phenotypic expression varies even within families. A summary of clinical manifestations and age of onset in 71 Japanese individuals is shown in . The manifestations (in order of frequency) are anemia, retinal degeneration, diabetes mellitus, and neurologic signs/symptoms. The neurologic signs/symptoms correspond to regions of brain iron accumulation and include ataxia, involuntary movement, parkinsonism, and cognitive dysfunction .

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

Aceruloplasminemia is characterized by iron accumulation in the brain and viscera.

Suggestive Findings

Aceruloplasminemia should be suspected in individuals with characteristic MRI findings, more than one of the following clinical findings, and typical results on laboratory testing. MRI. Abnormal low intensities in the liver as well as the striatum, thalamus, and dentate nucleus of the brain on T1- and T2-weighted images are consistent with iron deposition and support a diagnosis of aceruloplasminemia .

Clinical findings

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 iron metabolism and transport. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

Evaluations Following Initial Diagnosis

To establish the extent of disease and needs in an individual diagnosed with aceruloplasminemia, the evaluations summarized in this section (if not performed as part of the evaluation that led to the diagnosis) are recommended:

Prognosis

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

GeneReviews

Surveillance Guidelines

Marked accumulation of iron in parenchymal tissues including the liver, pancreas, heart, and thyroid can result in diabetes mellitus, cardiac failure, and hypothyroidism.

All affected individuals should have an annual glucose tolerance test starting at age 15 years to evaluate for the onset of diabetes mellitus.
Cardiac evaluation should be performed early in the course of the disease and repeated every year.

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 iron metabolism and transport.

211 publications have been identified in PubMed for disorder of iron metabolism and transport. Research spans Basic Science / Preclinical (63%), Review / Meta-Analysis (24%), and Epidemiology / Natural History (5%).

Research Type	Count	% of Total
Laboratory research	130	63%

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 5:41 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:309842

GARD

Genetic and Rare Diseases Info Center

GARD:21355

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?

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Kisho

disorder of iron metabolism and transport

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

Other types of slowly progressive

Neuroferritinopathy

Treatment of Manifestations

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Recent Publications

disorder of iron metabolism and transport

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

Other types of slowly progressive

Neuroferritinopathy

Treatment of Manifestations

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Recent Publications