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riboflavin transporter deficiency - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

riboflavin transporter deficiency

MONDO:0008891

Also known as:Brown-Vialetto-van Laere syndromeFazio-Londe syndromedisorder of riboflavin transmembrane transporter activity

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Overview

A progressive motor neuron disorder characterized by respiratory insufficiency, sensorineural deafness and progressive ponto-bulbar palsy.

Clinical Trials1 registered

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 very common findings: Bulbar palsy, Abnormal cranial nerve morphology, Progressive hearing impairment, and Cranial nerve paralysis; and common findings: Abnormal eye movements (abnormality of eye movement), Ptosis, Low muscle tone (hypotonia), and Dysarthria and others. 35 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	14	Abnormal cranial nerve morphology, Cranial nerve paralysis, Dysarthria

Diagnosis

Biomarker and diagnostic research for riboflavin transporter deficiency has been reported in the published literature.

Prognosis

Phenotype severity distribution: 4 very common features, 12 common features.

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

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.

1 clinical trial registered. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

37 publications have been identified in PubMed for riboflavin transporter deficiency. Research spans Case Report / Case Series (43%), Basic Science / Preclinical (24%), and Review / Meta-Analysis (11%).

Research Type	Count	% of Total
Patient case studies	16	43%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 3:59 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:97229

GARD

Genetic and Rare Diseases Info Center

GARD:9993

Questions for Your Care Team

→Are any of the 1 active clinical trial a good fit for my situation?
→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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riboflavin transporter deficiency

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

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Recent Publications

riboflavin transporter deficiency

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications