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Disease Profile
Riboflavin transporter deficiency
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
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Age of onset
Childhood
ICD-10
G12.1
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
Pontobulbar palsy and neurosensory deafness; BVVLS; Pontobulbar palsy with deafness;
Categories
Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases; Nervous System Diseases
Summary
Riboflavin transporter deficiency is a progressive neurodegenerative disease characterized by paralysis of the cranial nerves, sensorineural deafness, and signs of damage to other nerves. Symptoms may begin from infancy to early adulthood and worsen over time.[1][2] When the condition begins in infancy, the first symptom often is breathing problems, which can be life-threatening. When it begins in childhood or early adulthood, sensorineural deafness is usually the first symptom.[3] Other signs and symptoms may include vocal cord paralysis, droopy eyelids, facial weakness, slurred speech, difficulty swallowing, visual problems, autonomic dysfunction, breathing difficulties, and weakness of the neck, shoulder, and limbs.[1][2]
Riboflavin transporter deficiency may be caused by
Symptoms
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
Medical Terms | Other Names |
Learn More:
HPO ID
|
---|---|---|
80%-99% of people have these symptoms | ||
Bulbar palsy | 0001283 | |
Progressive hearing impairment | 0001730 | |
30%-79% of people have these symptoms | ||
Abnormality of eye movement |
Abnormal eye movement
Abnormal eye movements
Eye movement abnormalities
Eye movement issue
[ more ] |
0000496 |
Difficulty articulating speech
|
0001260 | |
Poor swallowing
Swallowing difficulties
Swallowing difficulty
[ more ] |
0002015 | |
Facial palsy |
Bell's palsy
|
0010628 |
Hyporeflexia |
Decreased reflex response
Decreased reflexes
[ more ] |
0001265 |
Limb muscle weakness |
Limb weakness
|
0003690 |
Muscular |
Low or weak muscle tone
|
0001252 |
Myoclonus | 0001336 | |
Drooping upper eyelid
|
0000508 | |
Respiratory insufficiency |
Respiratory impairment
|
0002093 |
Skeletal muscle atrophy |
Muscle degeneration
Muscle wasting
[ more ] |
0003202 |
5%-29% of people have these symptoms | ||
Abnormal autonomic nervous system physiology | 0012332 | |
Abnormality of macular pigmentation | 0008002 | |
Aggressive behavior |
Aggression
Aggressive behaviour
Aggressiveness
[ more ] |
0000718 |
0001251 | ||
Cachexia |
Wasting syndrome
|
0004326 |
Cerebral cortical atrophy |
Decrease in size of the outer layer of the brain due to loss of brain cells
|
0002120 |
Color vision defect |
Abnormal color vision
Abnormality of color vision
[ more ] |
0000551 |
Diabetes insipidus | 0000873 | |
Enlarged male breast
|
0000771 | |
Hallucinations |
Hallucination
Sensory hallucination
[ more ] |
0000738 |
0000822 | ||
Decreased activity of gonads
|
0000135 | |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |
Iris hypopigmentation |
Light eye color
|
0007730 |
Optic disc pallor | 0000543 | |
0001250 | ||
Sleep apnea |
Pauses in breathing while sleeping
|
0010535 |
Tremor | 0001337 | |
Visual impairment |
Impaired vision
Loss of eyesight
Poor vision
[ more ] |
0000505 |
Percent of people who have these symptoms is not available through HPO | ||
Abnormal cerebellum morphology |
Abnormality of the cerebellum
Cerebellar abnormalities
Cerebellar abnormality
Cerebellar anomaly
[ more ] |
0001317 |
Ankle clonus |
Abnormal rhythmic movements of ankle
|
0011448 |
0000007 | ||
Clumsiness | 0002312 | |
Cranial nerve motor loss | 0007097 | |
Diaphragmatic weakness |
Weak diaphragm
|
0009113 |
External ophthalmoplegia |
Paralysis or weakness of muscles within or surrounding outer part of eye
|
0000544 |
Hand muscle atrophy |
Hand muscle degeneration
|
0009130 |
Juvenile onset |
Signs and symptoms begin before 15 years of age
|
0003621 |
Knee clonus | 0011449 | |
Kyphosis |
Hunched back
Round back
[ more ] |
0002808 |
Myopathic facies | 0002058 | |
Neck muscle weakness |
Floppy neck
|
0000467 |
Nocturnal hypoventilation | 0002877 | |
0009830 | ||
Progressive |
Worsens with time
|
0003676 |
Proximal muscle weakness |
Weakness in muscles of upper arms and upper legs
|
0003701 |
Recurrent respiratory infections |
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections
[ more ] |
0002205 |
Respiratory distress |
Breathing difficulties
Difficulty breathing
[ more ] |
0002098 |
0002650 | ||
Sensorineural hearing impairment | 0000407 | |
Stridor | 0010307 | |
Tongue atrophy |
Wasting of the tongue
|
0012473 |
Tongue fasciculations |
Tongue twitching
Twitching of the tongue
[ more ] |
0001308 |
Vocal cord paralysis |
Inability to move vocal cords
|
0001605 |
Weak voice |
Soft voice
|
0001621 |
Cause
Diagnosis
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
Testing Resources
- The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Treatment
Related diseases
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
|
---|
Differential diagnosis include neuromuscular diseases like some forms of congenital or mitochondrial myopathy and rapidly progressive neuropathies.
Visit the Orphanet disease page for more information.
|
Organizations
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Organizations Supporting this Disease
-
Cure RTD Foundation
6228 Northaven Rd.
Dallas, TX 75230
Telephone: 403-244-4549
E-mail: [email protected]
Website: https://curertd.org/ -
Thisbe and Noah Scott Foundation
P.O. Box 50332
Nashville, TN 37205-0332
Telephone: 615-521-6195
E-mail: https://www.thisbeandnoah.org/contact/
Website: https://www.thisbeandnoah.org/
Learn more
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
Where to Start
- Genetics Home Reference (GHR) contains information on Riboflavin transporter deficiency. This website is maintained by the National Library of Medicine.
In-Depth Information
- GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Riboflavin transporter deficiency. Click on the link to view a sample search on this topic.
Selected Full-Text Journal Articles
- The Orphanet Journal of Rare Diseases has published an article with information on this condition. This journal is affiliated with the Orphanet reference portal for information on rare diseases and orphan drugs.
References
- Manole A and H Houlden. Riboflavin Transporter Deficiency Neuronopathy. GeneReviews. 06/11/2015; https://www.ncbi.nlm.nih.gov/books/NBK299312/.
- About BVVL. BVVL International. 2016; https://www.bvvlinternational.org/about-bvvl.html.
- Riboflavin transporter deficiency neuronopathy. Genetics Home Reference. January, 2016; https://ghr.nlm.nih.gov/condition/riboflavin-transporter-deficiency-neuronopathy.
- Jaeger B, Bosch AM. Clinical presentation and outcome of riboflavin transporter deficiency: mini review after five years of experience. J Inherit Metab Dis. July, 2016; 39(4):559-564. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4920840/.
- Deficiencia del transportador de riboflavina. Orphanet. May 2013; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=ES&Expert=97229.
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