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hereditary hyperferritinemia with congenital cataracts - Clinical Profile, Genes & Research | Kisho | Kisho

Features include always present findings: Anterior subcapsular cataract and Elevated ferritin (iron storage marker) (increased circulating ferritin concentration); and very common findings: Cataract and Abnormality of metabolism/homeostasis. 9 total HPO annotations.

Organ System	Phenotype Count	Example Features
Eyes	4	Nuclear cataract, Anterior subcapsular cataract, Cataract
Lab test results	1	Elevated ferritin (iron storage marker) (increased circulating ferritin concentration)
Metabolism	1	Abnormality of metabolism/homeostasis

GeneReviews

Clinical Guidance

To date, more than 100 individuals have been identified with a pathogenic variant in FTL. The following description of the phenotypic features associated with this condition is based on these reports [, , , , , , , , , , , , , , , , , , , , , ]. Table 2. Neuroferritinopathy: Frequency of Select Features

Category	Feature	% of Persons w/Feature1	Comment
phenotype	Chorea	50%	Affects 1 or 2 limbs at time of onset; Age of onset in adulthood Dystonia
Motor issues	Bradykinesia	35%	Motor issues typically progressive Dystonia
Oral motor issues	Dysarthria	78%

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

No consensus clinical diagnostic criteria for neuroferritinopathy have been published.

Suggestive Findings

Neuroferritinopathy should be suspected in individuals with the following clinical, imaging, and family history findings. Clinical findings. Adult-onset progressive movement disorder (either chorea or dystonia) Imaging findings. Evidence of excess iron storage or accumulation on T2-weighted images from disease onset. As disease progresses, high signal on T2-weighted MRI in the caudate, globus pallidus, putamen, substantia nigra, and red nuclei is seen, followed by cystic degeneration in the caudate and putamen . Family history is consistent with autosomal dominant inheritance (e.g., affected males and females in multiple generations).

Source: GeneReviews — "Neuroferritinopathy"

GeneReviews

Differential Diagnosis

Table 3. Disorders of Interest in the Differential Diagnosis of Neuroferritinopathy

Gene	Disorder	MOI	Features Overlapping w/Neuroferritinopathy	Distinguishing Features
SCA2	AD	Dystonia	Ataxia neuropathy (a minor feature) in SCA2 ATXN3	—
SCA3

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

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 hereditary hyperferritinemia with congenital cataracts. 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 neuroferritinopathy, 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 Neuroferritinopathy

System/Concern	Evaluation	Comment
Neurologic/movement disorders	Assessment by neurologist or movement disorders specialist	To incl brain MRI w/T2 or T2* sequences Psychiatric/
Behavioral	Assessment by neuropsychiatrist/behavioral specialist	Early neuropsychiatric features are common.
Nutrition	Assessment by dietician/nutritionist	To incl dietary assessment, as weight loss may develop in late stages of disorder
Activities of daily living	Assessment by developmental therapists	To incl motor, adaptive, cognitive/psychometric, speech/language evals
Genetic counseling	By genetics professionals1	To inform affected persons their families re nature, MOI, implications of neuroferritinopathy to facilitate medical personal decision making Family support resources

Source: GeneReviews — "Neuroferritinopathy"

Clinical Trials

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Prognosis

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

GeneReviews

Surveillance Guidelines

To monitor existing manifestations, the individual's response to supportive care, and the emergence of new manifestations, the following evaluations are recommended. Table 6. Recommended Surveillance for Individuals with Neuroferritinopathy

System/Concern	Evaluation	Frequency
movement disorders	Assessment of mvmt abnormalities	At each visit
Cognition	Eval w/neuropsychologist	Annually /or as needed
Dietary/nutritional needs	Ongoing dietary nutritional support	—
Family/Community	Assess family need for social work support (e.g., palliative/respite care, home nursing, other local resources), care coordination, or follow-up genetic counseling if new questions arise (e.g., family planning).	At each visit

Source: GeneReviews — "Neuroferritinopathy"

Phenotype severity distribution: 2 always present features, 2 very common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Kisho

hereditary hyperferritinemia with congenital cataracts

Overview

Clinical Presentation

Clinical Guidance

Explore clinical features

Genetic Landscape

Penetrance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Differential Diagnosis

Treatment

Management Guidelines

Clinical Trials

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

hereditary hyperferritinemia with congenital cataracts

Overview

Clinical Presentation

Clinical Guidance

Explore clinical features

Genetic Landscape

Penetrance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Differential Diagnosis

Treatment

Management Guidelines

Clinical Trials

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team