MCID: RBF003
MIFTS: 27

Riboflavin Transporter Deficiency

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 2 and brown-vialetto-van laere syndrome, 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 17)
# Related Disease Score Top Affiliating Genes
1 brown-vialetto-van laere syndrome 2 13.2
2 brown-vialetto-van laere syndrome 13.2
3 riboflavin transporter deficiency neuronopathy 12.7
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 10.7
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 muscle disorders 9.9
15 tooth disease 9.9
16 myopathy 9.9
17 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 macular pigmentation 33 occasional (7.5%) HP:0008002
28 gynecomastia 33 occasional (7.5%) HP:0000771
29 optic disc pallor 33 occasional (7.5%) HP:0000543
30 iris hypopigmentation 33 occasional (7.5%) HP:0007730
31 abnormal autonomic nervous system physiology 33 occasional (7.5%) HP:0012332
32 color vision defect 33 occasional (7.5%) HP:0000551

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 62)
# Title Authors Year
1
Cochlear implantation in children with auditory neuropathy: Lessons from Brown-Vialetto-Van Laere syndrome. ( 30332915 )
2019
2
A Chinese pedigree with Brown-Vialetto-Van Laere syndrome due to two novel mutations of SLC52A2 gene: clinical course and response to riboflavin. ( 31064337 )
2019
3
Oral therapy for riboflavin transporter deficiency - What is the regimen of choice? ( 30343981 )
2019
4
An update on the genetics, clinical presentation, and pathomechanisms of human riboflavin transporter deficiency. ( 30793323 )
2019
5
Late-onset and acute presentation of Brown-Vialetto-Van Laere syndrome in a Brazilian family. ( 29473049 )
2018
6
Brown-Vialetto-Van Laere syndrome: a novel diagnosis to a common presentation. ( 29950502 )
2018
7
Genetic, Radiologic, and Clinical Variability in Brown-Vialetto-van Laere Syndrome. ( 29961509 )
2018
8
Child Neurology: Brown-Vialetto-Van Laere syndrome: Dramatic visual recovery after delayed riboflavin therapy. ( 30420458 )
2018
9
Riboflavin Treatment in Genetically Proven Brown-Vialetto-Van Laere Syndrome. ( 30937093 )
2018
10
Established and novel measures of upper limb impairment in children with Charcot-Marie-tooth disease type 1A and riboflavin transporter deficiency type 2. ( 29168276 )
2018
11
Riboflavin transporter deficiency mimicking mitochondrial myopathy caused by complex II deficiency. ( 29193829 )
2018
12
The First Case of Riboflavin Transporter Deficiency in sub-Saharan Africa. ( 29961494 )
2018
13
Successful treatment of a genetic childhood ataxia due to riboflavin transporter deficiency. ( 30377535 )
2018
14
Remarkable motor recovery after riboflavin therapy in adult-onset Brown-Vialetto-Van Laere syndrome. ( 27777325 )
2017
15
Brown-Vialetto-Van Laere Syndrome as a Mimic of Neuroimmune Disorders: 3 Cases From the Clinic and Review of the Literature. ( 28116953 )
2017
16
A Case of Brown-Vialetto-Van Laere Syndrome Due To a Novel Mutation in SLC52A3 Gene: Clinical Course and Response to Riboflavin. ( 28856173 )
2017
17
Brown-Vialetto-Van Laere syndrome: a 28-year follow-up. ( 26443808 )
2016
18
Brown-Vialetto-Van Laere syndrome: two siblings with a new mutation and dramatic therapeutic effect of high-dose riboflavin. ( 26444347 )
2016
19
Auditory neuropathy in Brown-Vialetto-Van Laere syndrome due to riboflavin transporter RFVT2 deficiency. ( 26918385 )
2016
20
SLC52A3, A Brown-Vialetto-van Laere syndrome candidate gene is essential for mouse development, but dispensable for motor neuron differentiation. ( 26976849 )
2016
21
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
22
Clinical presentation and outcome of riboflavin transporter deficiency: mini review after five years of experience. ( 26973221 )
2016
23
Auditory neuropathy spectrum disorder with Brown-Vialetto-Van Laere syndrome: challenges in hearing rehabilitation. ( 25994385 )
2015
24
Adult onset Brown-Vialetto-Van Laere syndrome with opsoclonus and a novel heterozygous mutation: a case report. ( 25462087 )
2015
25
Brown-Vialetto-Van Laere syndrome: clinical and neuroradiological findings of a genetically proven patient. ( 24079556 )
2014
26
Brown-Vialetto-van Laere syndrome: a riboflavin responsive neuronopathy of infancy with singular features. ( 24206674 )
2014
27
Brown-Vialetto-Van Laere syndrome: clinical and neuropathologic findings with immunohistochemistry for C20orf54 in three affected patients. ( 23688382 )
2013
28
A novel compound heterozygous mutation of C20orf54 gene associated with Brown-Vialetto-Van Laere syndrome in an Italian family. ( 23750839 )
2013
29
Madras motor neuron disease (MMND) is distinct from the riboflavin transporter genetic defects that cause Brown-Vialetto-Van Laere syndrome. ( 24139842 )
2013
30
Pontobulbar palsy and sensorineural deafness (Brown-Vialetto-van Laere syndrome): A case from Northwest Iran. ( 24470831 )
2013
31
Early use of high-dose riboflavin in a case of Brown-Vialetto-Van Laere syndrome. ( 22098162 )
2012
32
Brown-Vialetto-Van Laere syndrome and Fazio-Londe disease - treatable motor neuron diseases of childhood. ( 22211384 )
2012
33
Brown-Vialetto-Van Laere syndrome: a riboflavin-unresponsive patient with a novel mutation in the C20orf54 gene. ( 22633641 )
2012
34
Four novel C20orf54 mutations identified in Brown-Vialetto-Van Laere syndrome patients. ( 22718020 )
2012
35
Association of UBQLN1 mutation with Brown-Vialetto-Van Laere syndrome but not typical ALS. ( 22766032 )
2012
36
Protracted disease course after deafness in a man with Brown-Vialetto-Van Laere syndrome. ( 22772932 )
2012
37
A Commentary on 'Four novel C20ORF54 mutations identified in Brown-Vialetto-Van Laere syndrome patients.'. ( 22786578 )
2012
38
Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome. ( 22864630 )
2012
39
Cochlear Implantation in Brown-Vialetto-Van-Laere syndrome. ( 20955635 )
2011
40
Cor pulmonale in a patient with Brown-Vialetto-Van Laere syndrome: a case report. ( 21055769 )
2011
41
Four cases of brown-vialetto-van laere syndrome from Iran: Clinical and electrophysiologic findings. ( 24250848 )
2011
42
Pontobulbar palsy and sensorineural deafness (Brown-Vialetto-van Laere syndrome): the first case from Libya. ( 20001484 )
2010
43
Brown-Vialetto-Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused by mutations in c20orf54. ( 20206331 )
2010
44
Exome sequencing in Brown-Vialetto-van Laere syndrome. ( 20920669 )
2010
45
Anesthesia in Brown-Vialetto-Van Laere syndrome. ( 19807888 )
2009
46
Brown-Vialetto-Van Laere syndrome. ( 18416855 )
2008
47
A Brazilian family with Brown-Vialetto-van Laere syndrome with autosomal recessive inheritance. ( 17420823 )
2007
48
Severe sleep-disordered breathing in a patient with Brown-Vialetto-Van Laere syndrome: polysomnographic findings. ( 17669429 )
2007
49
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
50
Cardiac arrest in a patient with Brown-Vialetto-Van Laere syndrome. ( 16963409 )
2006

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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10 dbSNP
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70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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