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neurodegeneration with brain iron accumulation 9 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

neurodegeneration with brain iron accumulation 9

MONDO:0958012

Overview

GeneticsAutosomal dominant · FTH1 (chr 11)

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: Ataxia, Neurodegeneration, Thin corpus callosum, and Failure to thrive and others; and very common findings: Delayed ability to sit, Difficulty swallowing (dysphagia), Microcephaly, and Delayed ability to walk and others. 32 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	15	Exaggerated startle response, Dystonia, Seizure

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.

FTH1 encodes ferritin heavy chain 1 (183 aa). Stores iron in a soluble, non-toxic, readily available form. Important for iron homeostasis. Has ferroxidase activity. Highest expression in Cells Cultured fibroblasts (4,593 TPM) and Nerve Tibial (3,095 TPM).

Neurodegeneration with brain iron accumulation 9 has been associated with mutations in the FTH1 gene on chromosome 11.

FTH1 is classified as a druggable target with score 52.2.

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.

Genetic testing for FTH1 is available. Testing is considered supportive for diagnosis.

Biomarker and diagnostic research for neurodegeneration with brain iron accumulation 9 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 8 always present features, 5 very common 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 neurodegeneration with brain iron accumulation 9.

24 publications have been identified in PubMed for neurodegeneration with brain iron accumulation 9. Research spans Basic Science / Preclinical (42%), Diagnostic / Biomarker (25%), and Review / Meta-Analysis (13%).

Research Type	Count	% of Total
Laboratory research	10	42%

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 8:42 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:620669

Questions for Your Care Team

→Should I pursue genetic testing for FTH1, 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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Kisho

neurodegeneration with brain iron accumulation 9

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

neurodegeneration with brain iron accumulation 9

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications