BVVLS
MCID: RBF002
MIFTS: 25

Riboflavin Transporter Deficiency Neuronopathy (BVVLS)

Categories: Ear diseases, Neuronal diseases

Aliases & Classifications for Riboflavin Transporter Deficiency Neuronopathy

MalaCards integrated aliases for Riboflavin Transporter Deficiency Neuronopathy:

Name: Riboflavin Transporter Deficiency Neuronopathy 24 25
Brown-Vialetto-Van Laere Syndrome 25 72
Fazio-Londe Syndrome 25 72
Progressive Bulbar Palsy with Sensorineural Deafness 25
Riboflavin Transporter Deficiency 25
Pontobulbar Palsy with Deafness 25
Fazio-Londe Disease 25
Bvvls 25

Classifications:



External Ids:

UMLS 72 C0015708 C0796274

Summaries for Riboflavin Transporter Deficiency Neuronopathy

Genetics Home Reference : 25 Riboflavin transporter deficiency neuronopathy is a disorder that affects nerve cells (neurons). Affected individuals typically have hearing loss caused by nerve damage in the inner ear (sensorineural hearing loss) and signs of damage to other nerves. In addition to nerves in the inner ear, riboflavin transporter deficiency neuronopathy involves nerves found in the part of the brain that is connected to the spinal cord (the brainstem), specifically in a region of the brainstem known as the pontobulbar region. Damage to these nerves causes paralysis of the muscles controlled by them, a condition called pontobulbar palsy. Nerves in the pontobulbar region help control several voluntary muscle activities, including breathing, speaking, and moving the limbs. As a result of pontobulbar palsy, people with riboflavin transporter deficiency neuronopathy can have breathing problems; slurred speech; and muscle weakness in the face, neck, shoulders, and limbs. Affected individuals can also have muscle stiffness (spasticity) and exaggerated reflexes. The age at which riboflavin transporter deficiency neuronopathy begins varies from infancy to young adulthood. When the condition begins in infancy, the first symptom is often breathing problems caused by nerve damage, which can be life-threatening. When the condition begins in children or young adults, sensorineural hearing loss usually occurs first, followed by signs of pontobulbar palsy. If not treated, the signs and symptoms of riboflavin transporter deficiency neuronopathy worsen over time. Severe breathing problems and respiratory infections are the usual cause of death in people with this condition. Without treatment, affected infants typically survive less than one year. However, those who develop the condition after age 4 often survive more than 10 years. Riboflavin transporter deficiency neuronopathy encompasses two conditions that were once considered distinct disorders: Brown-Vialetto-Van Laere syndrome (BVVLS) and Fazio-Londe disease. The two conditions have similar signs and symptoms, but Fazio-Londe disease does not include sensorineural hearing loss. Because these two conditions share a genetic cause and have overlapping features, researchers determined that they are forms of a single disorder.

MalaCards based summary : Riboflavin Transporter Deficiency Neuronopathy, also known as brown-vialetto-van laere syndrome, is related to madras motor neuron disease and brown-vialetto-van laere syndrome, and has symptoms including dyspnea, clumsiness and stridor. An important gene associated with Riboflavin Transporter Deficiency Neuronopathy is SLC52A2 (Solute Carrier Family 52 Member 2), and among its related pathways/superpathways is Metabolism of water-soluble vitamins and cofactors. Affiliated tissues include brain, spinal cord and tongue.

GeneReviews: NBK299312

Related Diseases for Riboflavin Transporter Deficiency Neuronopathy

Diseases related to Riboflavin Transporter Deficiency Neuronopathy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 53)
# Related Disease Score Top Affiliating Genes
1 madras motor neuron disease 30.2 SLC52A3 SLC52A2
2 brown-vialetto-van laere syndrome 30.0 SLC52A3 SLC52A2
3 progressive bulbar palsy 29.4 SLC52A3 SLC52A2
4 sensorineural hearing loss 11.0
5 auditory neuropathy spectrum disorder 10.8
6 dysphagia 10.8
7 nathalie syndrome 10.7
8 ataxia and polyneuropathy, adult-onset 10.7
9 ptosis 10.7
10 multiple cranial nerve palsy 10.7
11 hypotonia 10.7
12 multiple acyl-coa dehydrogenase deficiency 10.6
13 dowling-degos disease 1 10.5
14 retinitis pigmentosa 10.5
15 pulmonary hypertension 10.5
16 sleep apnea 10.5
17 cardiac arrest 10.5
18 neuroretinitis 10.5
19 polyneuropathy 10.5
20 toxic shock syndrome 10.5
21 status epilepticus 10.5
22 retinitis 10.5
23 cranial nerve palsy 10.5
24 central sleep apnea 10.5
25 autonomic dysfunction 10.5
26 neurometabolic disease 10.5
27 facial paralysis 10.4
28 amyotrophic lateral sclerosis 1 10.4
29 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.4
30 respiratory failure 10.4
31 spinal muscular atrophy 10.4
32 lateral sclerosis 10.4
33 motor neuron disease 10.4
34 axonal neuropathy 10.4
35 muscular atrophy 10.4
36 neuropathy 10.4
37 giant axonal neuropathy 10.4
38 juvenile amyotrophic lateral sclerosis 10.4
39 fazio-londe disease 10.2
40 brown-vialetto-van laere syndrome 1 10.2
41 3-methylglutaconic aciduria, type iii 10.2
42 branchiootic syndrome 1 10.2
43 brown-vialetto-van laere syndrome 2 10.2
44 riboflavin deficiency 10.2
45 scoliosis 10.2
46 riboflavin transporter deficiency 10.2
47 charcot-marie-tooth disease, demyelinating, type 1a 9.9
48 charcot-marie-tooth disease 9.9
49 tooth disease 9.9
50 sensory peripheral neuropathy 9.9

Graphical network of the top 20 diseases related to Riboflavin Transporter Deficiency Neuronopathy:



Diseases related to Riboflavin Transporter Deficiency Neuronopathy

Symptoms & Phenotypes for Riboflavin Transporter Deficiency Neuronopathy

UMLS symptoms related to Riboflavin Transporter Deficiency Neuronopathy:


dyspnea, clumsiness, stridor, muscular fasciculation, facial paresis

Drugs & Therapeutics for Riboflavin Transporter Deficiency Neuronopathy

Search Clinical Trials , NIH Clinical Center for Riboflavin Transporter Deficiency Neuronopathy

Genetic Tests for Riboflavin Transporter Deficiency Neuronopathy

Anatomical Context for Riboflavin Transporter Deficiency Neuronopathy

MalaCards organs/tissues related to Riboflavin Transporter Deficiency Neuronopathy:

41
Brain, Spinal Cord, Tongue

Publications for Riboflavin Transporter Deficiency Neuronopathy

Articles related to Riboflavin Transporter Deficiency Neuronopathy:

(show top 50) (show all 61)
# Title Authors PMID Year
1
Madras motor neuron disease (MMND) is distinct from the riboflavin transporter genetic defects that cause Brown-Vialetto-Van Laere syndrome. 38 4
24139842 2013
2
The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectives. 38 4
23107375 2012
3
Four novel C20orf54 mutations identified in Brown-Vialetto-Van Laere syndrome patients. 38 4
22718020 2012
4
Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment. 38 4
21110228 2011
5
Brown-Vialetto-Van Laere syndrome. 38 4
18416855 2008
6
Replication of results of genome-wide association studies on esophageal squamous cell carcinoma susceptibility loci in a Korean population. 4
24152165 2014
7
Mutations in riboflavin transporter present with severe sensory loss and deafness in childhood. 4
24616084 2014
8
Recent advances in bulbar syndromes: genetic causes and disease mechanisms. 4
25159929 2014
9
Heterozygous D90A-SOD1 mutation in a patient with facial onset sensory motor neuronopathy (FOSMN) syndrome: a bridge to amyotrophic lateral sclerosis. 4
24591457 2014
10
Brown-Vialetto-van Laere syndrome: a riboflavin responsive neuronopathy of infancy with singular features. 4
24206674 2014
11
Brown-Vialetto-Van Laere syndrome: clinical and neuroradiological findings of a genetically proven patient. 4
24079556 2014
12
Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2. 4
24253200 2014
13
Maternal dietary nutrient intake and risk of preterm delivery. 4
23208764 2013
14
Novel riboflavin transporter family RFVT/SLC52: identification, nomenclature, functional characterization and genetic diseases of RFVT/SLC52. 4
23506902 2013
15
Riboflavin transporter 3 involvement in infantile Brown-Vialetto-Van Laere disease: two novel mutations. 4
23243084 2013
16
[The relationship between C20orf54 gene rs3746804 position single nucleotide polymorphism and susceptibility to esophageal squamous cell carcinoma]. 4
23327963 2012
17
Association of UBQLN1 mutation with Brown-Vialetto-Van Laere syndrome but not typical ALS. 4
22766032 2012
18
Genetic variation in C20orf54, PLCE1 and MUC1 and the risk of upper gastrointestinal cancers in Caucasian populations. 4
22805490 2012
19
Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome. 4
22864630 2012
20
Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease. 4
22740598 2012
21
FOSMN syndrome: novel insight into disease pathophysiology. 4
22722633 2012
22
Update on clinical aspects and treatment of selected vitamin-responsive disorders II (riboflavin and CoQ 10). 4
22231380 2012
23
Effect of clinical mutations on functionality of the human riboflavin transporter-2 (hRFT-2). 4
22273710 2012
24
Clinical diagnosis and management of amyotrophic lateral sclerosis. 4
21989247 2011
25
Maternal riboflavin deficiency, resulting in transient neonatal-onset glutaric aciduria Type 2, is caused by a microdeletion in the riboflavin transporter gene GPR172B. 4
21089064 2011
26
Exome sequencing in Brown-Vialetto-van Laere syndrome. 4
20920669 2010
27
Pontobulbar palsy and sensorineural deafness (Brown-Vialetto-van Laere syndrome): the first case from Libya. 4
20001484 2010
28
Brown-Vialetto-Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused by mutations in c20orf54. 4
20206331 2010
29
Novel mutations in ETFDH gene in Chinese patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency. 4
19265687 2009
30
The small, spastic, and furrowed tongue of Allgrove syndrome. 4
19365062 2009
31
Adolescent spinal muscular atrophy with calf hypertrophy and a deletion in the SMN gene. 4
18508340 2008
32
Severe sleep-disordered breathing in a patient with Brown-Vialetto-Van Laere syndrome: polysomnographic findings. 4
17669429 2007
33
Transient multiple acyl-CoA dehydrogenation deficiency in a newborn female caused by maternal riboflavin deficiency. 4
17689999 2007
34
ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency. 4
17584774 2007
35
A Brazilian family with Brown-Vialetto-van Laere syndrome with autosomal recessive inheritance. 4
17420823 2007
36
Cardiac arrest in a patient with Brown-Vialetto-Van Laere syndrome. 4
16963409 2006
37
Brown-Vialetto-Van Laere syndrome; variability in age at onset and disease progression highlighting the phenotypic overlap with Fazio-Londe disease. 4
16122634 2005
38
Clinical and genetic characterization of families with triple A (Allgrove) syndrome. 4
12429595 2002
39
Infantile progressive bulbar palsy with deafness. 4
12427524 2002
40
Brown-Vialetto-Van Laere syndrome: case report and literature review. 4
11465021 2000
41
Riboflavin deficiency and preeclampsia. 4
10862839 2000
42
Brown-Vialetto-Van Laere syndrome in a large inbred Lebanese family: confirmation of autosomal recessive inheritance? 4
10797435 2000
43
Pathology of Madras type of motor neuron disease (MMND)--a histological and immunohistochemical study. 4
10787043 2000
44
Progressive bulbar paralysis of childhood. A reappraisal of Fazio-Londe disease. 4
1486466 1992
45
Bulbo-pontine paralysis with deafness: the Vialetto-Van Laere syndrome. 4
1913372 1991
46
Juvenile-onset bulbospinal muscular atrophy with deafness: Vialetta-van Laere syndrome or Madras-type motor neuron disease? 4
3655850 1987
47
Progressive bulbar paralysis of childhood (Fazio-Londe disease) with deafness. Case report with clinicopathologic correlation. 4
7094955 1982
48
Ponto-bulbar palsy with deafness (Brown-Vialetto-Van Laere syndrome). 4
7229669 1981
49
Progressive bulbar paresis in childhood. 4
1247398 1976
50
The Nathalie syndrome. A new hereditary syndrome. 4
1204231 1975

Variations for Riboflavin Transporter Deficiency Neuronopathy

Expression for Riboflavin Transporter Deficiency Neuronopathy

Search GEO for disease gene expression data for Riboflavin Transporter Deficiency Neuronopathy.

Pathways for Riboflavin Transporter Deficiency Neuronopathy

GO Terms for Riboflavin Transporter Deficiency Neuronopathy

Biological processes related to Riboflavin Transporter Deficiency Neuronopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 riboflavin metabolic process GO:0006771 8.96 SLC52A3 SLC52A2
2 riboflavin transport GO:0032218 8.62 SLC52A3 SLC52A2

Molecular functions related to Riboflavin Transporter Deficiency Neuronopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 riboflavin transmembrane transporter activity GO:0032217 8.62 SLC52A3 SLC52A2

Sources for Riboflavin Transporter Deficiency Neuronopathy

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