BVVLS
MCID: BRW001
MIFTS: 41

Brown-Vialetto-Van Laere Syndrome (BVVLS)

Categories: Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Brown-Vialetto-Van Laere Syndrome

MalaCards integrated aliases for Brown-Vialetto-Van Laere Syndrome:

Name: Brown-Vialetto-Van Laere Syndrome 12 52 58 36 29 43 15 39 71
Riboflavin Transporter Deficiency 52 58
Sensorineural Hearing Loss-Pontobulbar Palsy Syndrome 58
Progressive Bulbar Palsy with Sensorineural Deafness 52
Pontobulbar Palsy and Neurosensory Deafness 52
Pontobulbar Palsy with Deafness 52
Bvvls 52

Characteristics:

Orphanet epidemiological data:

58
riboflavin transporter deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: any age;

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare otorhinolaryngological diseases
Developmental anomalies during embryogenesis


Summaries for Brown-Vialetto-Van Laere Syndrome

NIH Rare Diseases : 52 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. 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. 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. Riboflavin transporter deficiency may be caused by mutations in the SLC52A2 or SLC52A3 genes . Inheritance is autosomal recessive . Treatment with riboflavin therapy has been used since 2010 and appears to be effective and possibly life-saving. Without treatment, affected infants typically survive less than one year.

MalaCards based summary : Brown-Vialetto-Van Laere Syndrome, also known as riboflavin transporter deficiency, is related to brown-vialetto-van laere syndrome 1 and riboflavin transporter deficiency neuronopathy, and has symptoms including dyspnea, clumsiness and stridor. An important gene associated with Brown-Vialetto-Van Laere Syndrome is SLC52A3 (Solute Carrier Family 52 Member 3), and among its related pathways/superpathways are Vitamin digestion and absorption and Metabolism of water-soluble vitamins and cofactors. Affiliated tissues include eye and skeletal muscle, and related phenotypes are bulbar palsy and progressive hearing impairment

Disease Ontology : 12 A syndrome that is characterized by progressive bulbar palsies with sensorineural deafness.

KEGG : 36 Brown-Vialetto-Van Laere Syndrome (BVVLS) is a rare neurological disorder characterized by bulbar palsies and sensorineural deafness. BVVLS is mainly associated with defective riboflavin transporters encoded by the SLC52A2 and SLC52A3 genes. It has been suggested that riboflavin supplementation can ameliorate the progression of this neurodegenerative condition.

Wikipedia : 74 Brown-Vialetto-Van-Laere syndrome (BVVL), sometimes known as Brown's Syndrome, is a rare degenerative... more...

Related Diseases for Brown-Vialetto-Van Laere Syndrome

Diseases in the Brown-Vialetto-Van Laere Syndrome family:

Brown-Vialetto-Van Laere Syndrome 1 Brown-Vialetto-Van Laere Syndrome 2

Diseases related to Brown-Vialetto-Van Laere Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 76)
# Related Disease Score Top Affiliating Genes
1 brown-vialetto-van laere syndrome 1 35.8 SLC52A3 SLC52A2
2 riboflavin transporter deficiency neuronopathy 34.9 SLC52A3 SLC52A2
3 madras motor neuron disease 33.8 SLC52A3 SLC52A2 SLC52A1
4 progressive bulbar palsy 31.6 SLC52A3 SLC52A2 C9orf72
5 cranial nerve palsy 31.4 SLC52A3 SLC52A2 SLC52A1
6 motor neuron disease 31.3 SLC52A3 SLC52A2 SLC52A1 C9orf72 BICD2
7 juvenile amyotrophic lateral sclerosis 30.9 IGHMBP2 C19orf12
8 riboflavin deficiency 30.5 SLC52A3 SLC52A1 RFK FLAD1 ETFDH
9 charcot-marie-tooth disease 29.0 PRPS1L1 MORC2 IGHMBP2 C9orf72 C12orf65 BICD2
10 brown-vialetto-van laere syndrome 2 13.4
11 branchiootic syndrome 1 11.2
12 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 11.1
13 sensorineural hearing loss 11.0
14 fazio-londe disease 11.0
15 respiratory failure 10.9
16 amyotrophic lateral sclerosis 1 10.8
17 lateral sclerosis 10.8
18 neuropathy 10.8
19 auditory neuropathy spectrum disorder 10.8
20 dysphagia 10.8
21 nathalie syndrome 10.7
22 3-methylglutaconic aciduria, type iii 10.7
23 ataxia and polyneuropathy, adult-onset 10.7
24 ptosis 10.7
25 multiple cranial nerve palsy 10.7
26 hypotonia 10.7
27 dowling-degos disease 1 10.5
28 retinitis pigmentosa 10.5
29 pulmonary hypertension 10.5
30 sleep apnea 10.5
31 cardiac arrest 10.5
32 neuroretinitis 10.5
33 polyneuropathy 10.5
34 toxic shock syndrome 10.5
35 status epilepticus 10.5
36 retinitis 10.5
37 axonal neuropathy 10.5
38 central sleep apnea 10.5
39 autonomic dysfunction 10.5
40 neurometabolic disease 10.5
41 chronic apical periodontitis 10.5 SLC52A3 SLC52A2
42 ariboflavinosis 10.5 SLC52A1 FLAD1
43 amyotrophic lateral sclerosis type 15 10.4 UBQLN2 C9orf72
44 amyotrophic lateral sclerosis type 14 10.4 UBQLN2 C9orf72
45 amyotrophic lateral sclerosis 19 10.4 UBQLN2 C9orf72
46 amyotrophic lateral sclerosis 16, juvenile 10.3 UBQLN2 C9orf72
47 amyotrophic lateral sclerosis 10 with or without frontotemporal dementia 10.3 UBQLN2 C9orf72
48 behr syndrome 10.3 C19orf12 C12orf65
49 amyotrophic lateral sclerosis type 6 10.3 UBQLN2 C9orf72
50 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 10.3 UBQLN2 UBQLN1 C9orf72

Graphical network of the top 20 diseases related to Brown-Vialetto-Van Laere Syndrome:



Diseases related to Brown-Vialetto-Van Laere Syndrome

Symptoms & Phenotypes for Brown-Vialetto-Van Laere Syndrome

Human phenotypes related to Brown-Vialetto-Van Laere Syndrome:

58 31 (show all 37)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 bulbar palsy 58 31 hallmark (90%) Very frequent (99-80%) HP:0001283
2 progressive hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0001730
3 abnormality of eye movement 58 31 frequent (33%) Frequent (79-30%) HP:0000496
4 ptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000508
5 dysarthria 58 31 frequent (33%) Frequent (79-30%) HP:0001260
6 dysphagia 58 31 frequent (33%) Frequent (79-30%) HP:0002015
7 facial palsy 58 31 frequent (33%) Frequent (79-30%) HP:0010628
8 muscular hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001252
9 respiratory insufficiency 58 31 frequent (33%) Frequent (79-30%) HP:0002093
10 myoclonus 58 31 frequent (33%) Frequent (79-30%) HP:0001336
11 skeletal muscle atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0003202
12 hyporeflexia 58 31 frequent (33%) Frequent (79-30%) HP:0001265
13 limb muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0003690
14 intellectual disability 58 31 occasional (7.5%) Occasional (29-5%) HP:0001249
15 seizures 58 31 occasional (7.5%) Occasional (29-5%) HP:0001250
16 ataxia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001251
17 tremor 58 31 occasional (7.5%) Occasional (29-5%) HP:0001337
18 sleep apnea 58 31 occasional (7.5%) Occasional (29-5%) HP:0010535
19 hypertension 58 31 occasional (7.5%) Occasional (29-5%) HP:0000822
20 hallucinations 58 31 occasional (7.5%) Occasional (29-5%) HP:0000738
21 cerebral cortical atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0002120
22 visual impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000505
23 cachexia 58 31 occasional (7.5%) Occasional (29-5%) HP:0004326
24 hypogonadism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000135
25 aggressive behavior 58 31 occasional (7.5%) Occasional (29-5%) HP:0000718
26 diabetes insipidus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000873
27 abnormality of macular pigmentation 58 31 occasional (7.5%) Occasional (29-5%) HP:0008002
28 gynecomastia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000771
29 optic disc pallor 58 31 occasional (7.5%) Occasional (29-5%) HP:0000543
30 iris hypopigmentation 58 31 occasional (7.5%) Occasional (29-5%) HP:0007730
31 abnormal autonomic nervous system physiology 31 occasional (7.5%) HP:0012332
32 color vision defect 31 occasional (7.5%) HP:0000551
33 muscle weakness 58 Frequent (79-30%)
34 dysautonomia 58 Occasional (29-5%)
35 cranial nerve paralysis 58 Very frequent (99-80%)
36 abnormal cranial nerve morphology 58 Very frequent (99-80%)
37 abnormality of color vision 58 Occasional (29-5%)

UMLS symptoms related to Brown-Vialetto-Van Laere Syndrome:


dyspnea, clumsiness, stridor, muscular fasciculation, facial paresis

Drugs & Therapeutics for Brown-Vialetto-Van Laere Syndrome

Search Clinical Trials , NIH Clinical Center for Brown-Vialetto-Van Laere Syndrome

Cochrane evidence based reviews: brown-vialetto-van laere syndrome

Genetic Tests for Brown-Vialetto-Van Laere Syndrome

Genetic tests related to Brown-Vialetto-Van Laere Syndrome:

# Genetic test Affiliating Genes
1 Brown-Vialetto-Van Laere Syndrome 29

Anatomical Context for Brown-Vialetto-Van Laere Syndrome

MalaCards organs/tissues related to Brown-Vialetto-Van Laere Syndrome:

40
Eye, Skeletal Muscle

Publications for Brown-Vialetto-Van Laere Syndrome

Articles related to Brown-Vialetto-Van Laere Syndrome:

(show top 50) (show all 88)
# Title Authors PMID Year
1
Riboflavin Transporter Deficiency Neuronopathy 61 6
26072523 2015
2
Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2. 61 6
24253200 2014
3
Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome. 61 6
22864630 2012
4
Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease. 61 6
22740598 2012
5
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. 61 6
21110228 2011
6
Exome sequencing in Brown-Vialetto-van Laere syndrome. 61 6
20920669 2010
7
Brown-Vialetto-Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused by mutations in c20orf54. 61 6
20206331 2010
8
Brown-Vialetto-Van Laere syndrome; variability in age at onset and disease progression highlighting the phenotypic overlap with Fazio-Londe disease. 61 6
16122634 2005
9
Brown-Vialetto-Van Laere syndrome in a large inbred Lebanese family: confirmation of autosomal recessive inheritance? 61 6
10797435 2000
10
Riboflavin transporter 3 involvement in infantile Brown-Vialetto-Van Laere disease: two novel mutations. 6
23243084 2013
11
The Clinical Journey of Patients with Riboflavin Transporter Deficiency Type 2. 61
31868069 2020
12
A juvenile ALS-like phenotype dramatically improved after high-dose riboflavin treatment. 61
32022482 2020
13
Brown-Vialetto-Van Laere syndrome and Fazio-Londe syndrome: A novel mutation and in silico analyses. 61
31959559 2020
14
Reconstitution in Proteoliposomes of the Recombinant Human Riboflavin Transporter 2 (SLC52A2) Overexpressed in E. coli. 61
31500345 2019
15
An update on the genetics, clinical presentation, and pathomechanisms of human riboflavin transporter deficiency. 61
30793323 2019
16
A Chinese pedigree with Brown-Vialetto-Van Laere syndrome due to two novel mutations of SLC52A2 gene: clinical course and response to riboflavin. 61
31064337 2019
17
Oral therapy for riboflavin transporter deficiency - What is the regimen of choice? 61
30343981 2019
18
Mutation screening of SLC52A3, C19orf12, and TARDBP in Iranian ALS patients. 61
30553531 2019
19
Cochlear implantation in children with auditory neuropathy: Lessons from Brown-Vialetto-Van Laere syndrome. 61
30332915 2019
20
Myopathy with MTCYB mutation mimicking Multiple Acyl-CoA Dehydrogenase Deficiency. 61
30318261 2018
21
Development and validation of the Charcot-Marie-Tooth Disease Infant Scale. 61
30476010 2018
22
Child Neurology: Brown-Vialetto-Van Laere syndrome: Dramatic visual recovery after delayed riboflavin therapy. 61
30420458 2018
23
Riboflavin Treatment in Genetically Proven Brown-Vialetto-Van Laere Syndrome. 61
30937093 2018
24
Genetic, Radiologic, and Clinical Variability in Brown-Vialetto-van Laere Syndrome. 61
29961509 2018
25
The First Case of Riboflavin Transporter Deficiency in sub-Saharan Africa. 61
29961494 2018
26
Brown-Vialetto-Van Laere syndrome: a novel diagnosis to a common presentation. 61
29950502 2018
27
Established and novel measures of upper limb impairment in children with Charcot-Marie-tooth disease type 1A and riboflavin transporter deficiency type 2. 61
29168276 2018
28
Late-onset and acute presentation of Brown-Vialetto-Van Laere syndrome in a Brazilian family. 61
29473049 2018
29
Riboflavin transporter deficiency mimicking mitochondrial myopathy caused by complex II deficiency. 61
29193829 2018
30
Successful treatment of a genetic childhood ataxia due to riboflavin transporter deficiency. 61
30377535 2018
31
Clinical, pathological and functional characterization of riboflavin-responsive neuropathy. 61
29053833 2017
32
Riboflavin Responsive Mitochondrial Dysfunction in Neurodegenerative Diseases. 61
28475111 2017
33
Brown-Vialetto-Van Laere Syndrome as a Mimic of Neuroimmune Disorders: 3 Cases From the Clinic and Review of the Literature. 61
28116953 2017
34
A Case of Brown-Vialetto-Van Laere Syndrome Due To a Novel Mutation in SLC52A3 Gene: Clinical Course and Response to Riboflavin. 61
28856173 2017
35
Remarkable motor recovery after riboflavin therapy in adult-onset Brown-Vialetto-Van Laere syndrome. 61
27777325 2017
36
SLC52A2 [p.P141T] and SLC52A3 [p.N21S] causing Brown-Vialetto-Van Laere Syndrome in an Indian patient: First genetically proven case with mutations in two riboflavin transporters. 61
27702554 2016
37
Auditory neuropathy in Brown-Vialetto-Van Laere syndrome due to riboflavin transporter RFVT2 deficiency. 61
26918385 2016
38
Clinical presentation and outcome of riboflavin transporter deficiency: mini review after five years of experience. 61
26973221 2016
39
Riboflavin transport and metabolism in humans. 61
27271694 2016
40
Brown-Vialetto-Van Laere syndrome: a 28-year follow-up. 61
26443808 2016
41
SLC52A3, A Brown-Vialetto-van Laere syndrome candidate gene is essential for mouse development, but dispensable for motor neuron differentiation. 61
26976849 2016
42
Brown-Vialetto-Van Laere syndrome: two siblings with a new mutation and dramatic therapeutic effect of high-dose riboflavin. 61
26444347 2016
43
Pathophysiology of motor dysfunction in a childhood motor neuron disease caused by mutations in the riboflavin transporter. 61
26092362 2016
44
Exome sequencing results in successful riboflavin treatment of a rapidly progressive neurological condition. 61
27148561 2015
45
Sustained therapeutic response to riboflavin in a child with a progressive neurological condition, diagnosed by whole-exome sequencing. 61
27148562 2015
46
Auditory neuropathy spectrum disorder with Brown-Vialetto-Van Laere syndrome: challenges in hearing rehabilitation. 61
25994385 2015
47
Adult onset Brown-Vialetto-Van Laere syndrome with opsoclonus and a novel heterozygous mutation: a case report. 61
25462087 2015
48
Identification of residues/sequences in the human riboflavin transporter-2 that is important for function and cell biology. 61
25798182 2015
49
Mutations in riboflavin transporter present with severe sensory loss and deafness in childhood. 61
24616084 2014
50
Brown-Vialetto-Van Laere syndrome: clinical and neuroradiological findings of a genetically proven patient. 61
24079556 2014

Variations for Brown-Vialetto-Van Laere Syndrome

Expression for Brown-Vialetto-Van Laere Syndrome

Search GEO for disease gene expression data for Brown-Vialetto-Van Laere Syndrome.

Pathways for Brown-Vialetto-Van Laere Syndrome

Pathways related to Brown-Vialetto-Van Laere Syndrome according to KEGG:

36
# Name Kegg Source Accession
1 Vitamin digestion and absorption hsa04977

GO Terms for Brown-Vialetto-Van Laere Syndrome

Cellular components related to Brown-Vialetto-Van Laere Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasmic vesicle GO:0031410 9.35 UBQLN4 UBQLN2 UBQLN1 C9orf72 BICD2
2 autophagosome GO:0005776 8.92 UBQLN4 UBQLN2 UBQLN1 C9orf72

Biological processes related to Brown-Vialetto-Van Laere Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ubiquitin-dependent protein catabolic process GO:0006511 9.67 UBQLN1 UBQLN2 UBQLN4 UBQLNL
2 autophagy GO:0006914 9.55 UBQLN2 UBQLN4 UBQLN1 C9orf72 C19orf12
3 regulation of autophagosome assembly GO:2000785 9.32 C9orf72 UBQLN2
4 positive regulation of ER-associated ubiquitin-dependent protein catabolic process GO:1903071 9.26 UBQLN1 UBQLN2
5 riboflavin transport GO:0032218 9.13 SLC52A3 SLC52A2 SLC52A1
6 riboflavin metabolic process GO:0006771 9.02 SLC52A3 SLC52A2 SLC52A1 RFK FLAD1

Molecular functions related to Brown-Vialetto-Van Laere Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 polyubiquitin modification-dependent protein binding GO:0031593 9.26 UBQLNL UBQLN4 UBQLN2 UBQLN1
2 riboflavin transmembrane transporter activity GO:0032217 8.8 SLC52A3 SLC52A2 SLC52A1

Sources for Brown-Vialetto-Van Laere Syndrome

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