BVVLS
MCID: RBF003
MIFTS: 30

Riboflavin Transporter Deficiency (BVVLS)

Categories: Ear diseases, Eye diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Riboflavin Transporter Deficiency

MalaCards integrated aliases for Riboflavin Transporter Deficiency:

Name: Riboflavin Transporter Deficiency 54
Brown-Vialetto-Van Laere Syndrome 54 74
Progressive Bulbar Palsy with Sensorineural Deafness 54
Pontobulbar Palsy and Neurosensory Deafness 54
Pontobulbar Palsy with Deafness 54
Bvvls 54

Classifications:



Summaries for Riboflavin Transporter Deficiency

NIH Rare Diseases : 54 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 : Riboflavin Transporter Deficiency, also known as brown-vialetto-van laere syndrome, is related to brown-vialetto-van laere syndrome and brown-vialetto-van laere syndrome 2, and has symptoms including dyspnea, clumsiness and stridor. An important gene associated with Riboflavin Transporter Deficiency is SLC52A2 (Solute Carrier Family 52 Member 2). Affiliated tissues include eye and skeletal muscle, and related phenotypes are bulbar palsy and progressive hearing impairment

Related Diseases for Riboflavin Transporter Deficiency

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

(show all 16)
# Related Disease Score Top Affiliating Genes
1 brown-vialetto-van laere syndrome 13.2
2 brown-vialetto-van laere syndrome 2 13.1
3 riboflavin transporter deficiency neuronopathy 12.8
4 brown-vialetto-van laere syndrome 1 11.9
5 neuropathy 10.8
6 auditory neuropathy spectrum disorder 10.8
7 fazio-londe disease 10.7
8 motor neuron disease 10.5
9 cardiac arrest 10.5
10 madras motor neuron disease 10.5
11 charcot-marie-tooth disease, demyelinating, type 1a 9.9
12 ataxia and polyneuropathy, adult-onset 9.9
13 charcot-marie-tooth disease 9.9
14 tooth disease 9.9
15 myopathy 9.9
16 mitochondrial myopathy 9.9

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



Diseases related to Riboflavin Transporter Deficiency

Symptoms & Phenotypes for Riboflavin Transporter Deficiency

Human phenotypes related to Riboflavin Transporter Deficiency:

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

UMLS symptoms related to Riboflavin Transporter Deficiency:


dyspnea, clumsiness, stridor, muscular fasciculation, facial paresis

Drugs & Therapeutics for Riboflavin Transporter Deficiency

Search Clinical Trials , NIH Clinical Center for Riboflavin Transporter Deficiency

Genetic Tests for Riboflavin Transporter Deficiency

Anatomical Context for Riboflavin Transporter Deficiency

MalaCards organs/tissues related to Riboflavin Transporter Deficiency:

42
Eye, Skeletal Muscle

Publications for Riboflavin Transporter Deficiency

Articles related to Riboflavin Transporter Deficiency:

(show top 50) (show all 61)
# Title Authors Year
1
Cochlear implantation in children with auditory neuropathy: Lessons from Brown-Vialetto-Van Laere syndrome. ( 30332915 )
2019
2
An update on the genetics, clinical presentation, and pathomechanisms of human riboflavin transporter deficiency. ( 30793323 )
2019
3
Brown-Vialetto-Van Laere syndrome: a novel diagnosis to a common presentation. ( 29950502 )
2018
4
Riboflavin transporter deficiency mimicking mitochondrial myopathy caused by complex II deficiency. ( 29193829 )
2018
5
Genetic, Radiologic, and Clinical Variability in Brown-Vialetto-van Laere Syndrome. ( 29961509 )
2018
6
The First Case of Riboflavin Transporter Deficiency in sub-Saharan Africa. ( 29961494 )
2018
7
Late-onset and acute presentation of Brown-Vialetto-Van Laere syndrome in a Brazilian family. ( 29473049 )
2018
8
Child Neurology: Brown-Vialetto-Van Laere syndrome: Dramatic visual recovery after delayed riboflavin therapy. ( 30420458 )
2018
9
Oral therapy for riboflavin transporter deficiency - What is the regimen of choice? ( 30343981 )
2018
10
Successful treatment of a genetic childhood ataxia due to riboflavin transporter deficiency. ( 30377535 )
2018
11
Brown-Vialetto-Van Laere Syndrome as a Mimic of Neuroimmune Disorders: 3 Cases From the Clinic and Review of the Literature. ( 28116953 )
2017
12
A Case of Brown-Vialetto-Van Laere Syndrome Due To a Novel Mutation in SLC52A3 Gene: Clinical Course and Response to Riboflavin. ( 28856173 )
2017
13
Remarkable motor recovery after riboflavin therapy in adult-onset Brown-Vialetto-Van Laere syndrome. ( 27777325 )
2017
14
Established and novel measures of upper limb impairment in children with Charcot-Marie-tooth disease type 1A and riboflavin transporter deficiency type 2. ( 29168276 )
2017
15
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. ( 27702554 )
2016
16
Clinical presentation and outcome of riboflavin transporter deficiency: mini review after five years of experience. ( 26973221 )
2016
17
SLC52A3, A Brown-Vialetto-van Laere syndrome candidate gene is essential for mouse development, but dispensable for motor neuron differentiation. ( 26976849 )
2016
18
Auditory neuropathy in Brown-Vialetto-Van Laere syndrome due to riboflavin transporter RFVT2 deficiency. ( 26918385 )
2016
19
Auditory neuropathy spectrum disorder with Brown-Vialetto-Van Laere syndrome: challenges in hearing rehabilitation. ( 25994385 )
2015
20
Adult onset Brown-Vialetto-Van Laere syndrome with opsoclonus and a novel heterozygous mutation: a case report. ( 25462087 )
2015
21
Brown-Vialetto-Van Laere syndrome: two siblings with a new mutation and dramatic therapeutic effect of high-dose riboflavin. ( 26444347 )
2015
22
Brown-Vialetto-Van Laere syndrome: a 28-year follow-up. ( 26443808 )
2015
23
A novel compound heterozygous mutation of C20orf54 gene associated with Brown-Vialetto-Van Laere syndrome in an Italian family. ( 23750839 )
2013
24
Brown-Vialetto-van Laere syndrome: A riboflavin responsive neuronopathy of infancy with singular features. ( 24206674 )
2013
25
Madras motor neuron disease (MMND) is distinct from the riboflavin transporter genetic defects that cause Brown-Vialetto-Van Laere syndrome. ( 24139842 )
2013
26
Pontobulbar palsy and sensorineural deafness (Brown-Vialetto-van Laere syndrome): A case from Northwest Iran. ( 24470831 )
2013
27
Brown-Vialetto-Van Laere syndrome: Cinical and neuroradiological findings of a genetically proven patient. ( 24079556 )
2013
28
Brown-Vialetto-Van Laere syndrome: clinical and neuropathologic findings with immunohistochemistry for C20orf54 in three affected patients. ( 23688382 )
2013
29
Protracted disease course after deafness in a man with Brown-Vialetto-Van Laere syndrome. ( 22772932 )
2012
30
Four novel C20orf54 mutations identified in Brown-Vialetto-Van Laere syndrome patients. ( 22718020 )
2012
31
Association of UBQLN1 mutation with Brown-Vialetto-Van Laere syndrome but not typical ALS. ( 22766032 )
2012
32
Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome. ( 22864630 )
2012
33
Early use of high-dose riboflavin in a case of Brown-Vialetto-Van Laere syndrome. ( 22098162 )
2012
34
A Commentary on 'Four novel C20ORF54 mutations identified in Brown-Vialetto-Van Laere syndrome patients.'. ( 22786578 )
2012
35
Brown-Vialetto-Van Laere syndrome: a riboflavin-unresponsive patient with a novel mutation in the C20orf54 gene. ( 22633641 )
2012
36
Brown-Vialetto-Van Laere syndrome and Fazio-Londe disease - treatable motor neuron diseases of childhood. ( 22211384 )
2012
37
Four cases of brown-vialetto-van laere syndrome from Iran: Clinical and electrophysiologic findings. ( 24250848 )
2011
38
Cochlear Implantation in Brown-Vialetto-Van-Laere syndrome. ( 20955635 )
2011
39
Cor pulmonale in a patient with Brown-Vialetto-Van Laere syndrome: a case report. ( 21055769 )
2011
40
Brown-Vialetto-Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused by mutations in c20orf54. ( 20206331 )
2010
41
Pontobulbar palsy and sensorineural deafness (Brown-Vialetto-van Laere syndrome): the first case from Libya. ( 20001484 )
2010
42
Exome sequencing in Brown-Vialetto-van Laere syndrome. ( 20920669 )
2010
43
Anesthesia in Brown-Vialetto-Van Laere syndrome. ( 19807888 )
2009
44
Brown-Vialetto-Van Laere syndrome. ( 18416855 )
2008
45
A Brazilian family with Brown-Vialetto-van Laere syndrome with autosomal recessive inheritance. ( 17420823 )
2007
46
Severe sleep-disordered breathing in a patient with Brown-Vialetto-Van Laere syndrome: polysomnographic findings. ( 17669429 )
2007
47
Pontobulbar palsy and neurosensory deafness (Brown-Vialetto-van Laere syndrome) with hyperintense brainstem nuclei on magnetic resonance imaging: new finding in three siblings. ( 16948939 )
2006
48
Cardiac arrest in a patient with Brown-Vialetto-Van Laere syndrome. ( 16963409 )
2006
49
Clinical features and neurophysiological follow-up in a case of Brown-Vialetto-Van Laere syndrome. ( 16009552 )
2005
50
Brown-Vialetto-Van Laere syndrome: a rare syndrome in otology. ( 15992475 )
2005

Variations for Riboflavin Transporter Deficiency

Expression for Riboflavin Transporter Deficiency

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

Pathways for Riboflavin Transporter Deficiency

GO Terms for Riboflavin Transporter Deficiency

Sources for Riboflavin Transporter Deficiency

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75 UMLS via Orphanet
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