Riboflavin transporter deficiency

Summary

Riboflavin transporter deficiency (MONDO:0008891) is a disease and 2 clinical trials. A subtype of hereditary motor neuron disease — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Prevalence: <1 / 1 000 000 (Worldwide) [Orphanet-validated]
• Phenotypes (HPO): 35
• Clinical trials: 2

Clinical features

Epidemiology

Prevalence records

2 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Cases/families		109	Worldwide	Validated
Point prevalence	<1 / 1 000 000		Worldwide	Validated

Signs & symptoms

Clinical features (HPO)

35 HPO clinical features (Orphanet curated; top 35 by frequency):

HPO ID	Term	Frequency
HP:0001283	Bulbar palsy	Very frequent (80-99%)
HP:0001291	Abnormal cranial nerve morphology	Very frequent (80-99%)
HP:0001730	Progressive hearing impairment	Very frequent (80-99%)
HP:0006824	Cranial nerve paralysis	Very frequent (80-99%)
HP:0000496	Abnormality of eye movement	Frequent (30-79%)
HP:0000508	Ptosis	Frequent (30-79%)
HP:0001252	Hypotonia	Frequent (30-79%)
HP:0001260	Dysarthria	Frequent (30-79%)
HP:0001265	Hyporeflexia	Frequent (30-79%)
HP:0001324	Muscle weakness	Frequent (30-79%)
HP:0001336	Myoclonus	Frequent (30-79%)
HP:0002015	Dysphagia	Frequent (30-79%)
HP:0002093	Respiratory insufficiency	Frequent (30-79%)
HP:0003202	Skeletal muscle atrophy	Frequent (30-79%)
HP:0003690	Limb muscle weakness	Frequent (30-79%)
HP:0010628	Facial palsy	Frequent (30-79%)
HP:0000135	Hypogonadism	Occasional (5-29%)
HP:0000505	Visual impairment	Occasional (5-29%)
HP:0000543	Optic disc pallor	Occasional (5-29%)
HP:0000551	Color vision defect	Occasional (5-29%)
HP:0000718	Aggressive behavior	Occasional (5-29%)
HP:0000738	Hallucinations	Occasional (5-29%)
HP:0000771	Gynecomastia	Occasional (5-29%)
HP:0000822	Hypertension	Occasional (5-29%)
HP:0000873	Diabetes insipidus	Occasional (5-29%)
HP:0001249	Intellectual disability	Occasional (5-29%)
HP:0001250	Seizure	Occasional (5-29%)
HP:0001251	Ataxia	Occasional (5-29%)
HP:0001337	Tremor	Occasional (5-29%)
HP:0002120	Cerebral cortical atrophy	Occasional (5-29%)
HP:0004326	Cachexia	Occasional (5-29%)
HP:0007730	Iris hypopigmentation	Occasional (5-29%)
HP:0008002	Abnormality of macular pigmentation	Occasional (5-29%)
HP:0010535	Sleep apnea	Occasional (5-29%)
HP:0012332	Abnormal autonomic nervous system physiology	Occasional (5-29%)

Identifiers

Disease identifiers

Field	Value
Canonical name	riboflavin transporter deficiency
Mondo ID	MONDO:0008891
MeSH	C537111
OMIM	211530
Orphanet	97229
DOID	DOID:0050694
SNOMED CT	699866005
UMLS	C4551777
MedGen	1634394
GARD	0009993
NORD	1960
Is cancer (heuristic)	no

Also known as: Brown-Vialetto-van Laere syndrome · Brown-Vialetto-Van Laere syndrome 1 · BVVLS · BVVLS1 · disorder of riboflavin transmembrane transporter activity · Fazio-Londe syndrome · pontobulbar palsy and neurosensory deafness · progressive bulbar palsy with sensorineural deafness · riboflavin transmembrane transporter activity disease · sensorineural hearing loss-pontobulbar palsy syndrome

Data availability: 2 cell lines.

Disease family

This is a subtype of hereditary motor neuron disease. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.

Classification path: disease › human disease › disease by body system or component › nervous system disorder › central nervous system disorder › neurodegenerative disease › motor neuron disorder › hereditary motor neuron disease › riboflavin transporter deficiency

Related subtypes (8): prenatal-onset spinal muscular atrophy with congenital bone fractures, spinal muscular atrophy, familial amyotrophic lateral sclerosis, neurogenic scapuloperoneal syndrome, Kaeser type, motor neuron disease with dementia and ophthalmoplegia, lateral sclerosis, distal hereditary motor neuropathy, ALS2-related motor neuron disease

Subtypes (3): progressive bulbar palsy, Brown-Vialetto-van Laere syndrome 2, Brown-Vialetto-van Laere syndrome 1

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

No tiered GWAS variants or ClinVar records for this disease.

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

No druggable-target or therapeutic data for this disease’s cohort.

Clinical trials & evidence

Clinical trials

Clinical trials: 2.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	2

Top trials by phase / activity

NCT	Phase	Status	Title
NCT03655223	Not specified	ENROLLING_BY_INVITATION	Early Check: Expanded Screening in Newborns
NCT05687474	Not specified	COMPLETED	Baby Detect : Genomic Newborn Screening