MCID: BRW009
MIFTS: 31

Brown-Vialetto-Van Laere Syndrome 1

Categories: Genetic diseases, Ear diseases

Aliases & Classifications for Brown-Vialetto-Van Laere Syndrome 1

MalaCards integrated aliases for Brown-Vialetto-Van Laere Syndrome 1:

Name: Brown-Vialetto-Van Laere Syndrome 1 53 71 28 13
Pontobulbar Palsy with Deafness 53 71
Bvvls1 53 71
Bulbar Palsy, Progressive, with Sensorineural Deafness 53
Bulbar Palsy Progressive with Sensorineural Deafness 71
Brown-Vialetto-Van Laere Syndrome 69

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
variable age at onset, most often in second decade
onset in infancy and third decade had been reported
earlier onset is associated with more rapid progression
deafness tends to occur before other neurologic signs, except in patients with very early onset
death usually due to respiratory failure


HPO:

31
brown-vialetto-van laere syndrome 1:
Onset and clinical course juvenile onset progressive
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Brown-Vialetto-Van Laere Syndrome 1

OMIM : 53 Brown-Vialetto-Van Laere syndrome is a rare autosomal recessive neurologic disorder characterized by sensorineural hearing loss and a variety of cranial nerve palsies, usually involving the motor components of the seventh and ninth to twelfth (more rarely the third, fifth, and sixth) cranial nerves. Spinal motor nerves and, less commonly, upper motor neurons are sometimes affected, giving a picture resembling amyotrophic lateral sclerosis (ALS; 105400). The onset of the disease is usually in the second decade, but earlier and later onset have been reported. Hearing loss tends to precede the onset of neurologic signs, mostly progressive muscle weakness causing respiratory compromise. However, patients with very early onset may present with bulbar palsy and may not develop hearing loss until later. The symptoms, severity, and disease duration are variable (summary by Green et al., 2010). (211530)

MalaCards based summary : Brown-Vialetto-Van Laere Syndrome 1, also known as pontobulbar palsy with deafness, is related to riboflavin transporter deficiency neuronopathy and riboflavin transporter deficiency, and has symptoms including ataxia, respiratory distress and clumsiness. An important gene associated with Brown-Vialetto-Van Laere Syndrome 1 is SLC52A3 (Solute Carrier Family 52 Member 3). Affiliated tissues include tongue.

UniProtKB/Swiss-Prot : 71 Brown-Vialetto-Van Laere syndrome 1: A rare neurologic disorder characterized by sensorineural hearing loss and a variety of cranial nerve palsies, which develop over a relatively short period of time in a previously healthy individual. Sensorineural hearing loss may precede the neurological signs. The course is invariably progressive, but the rate of decline is variable within and between families. With disease evolution, long tract signs, lower motor neuron signs, cerebellar ataxia and lower cranial nerve (III-VI) palsies develop, giving rise to a complex picture resembling amyotrophic lateral sclerosis. Diaphragmatic weakness and respiratory compromise are some of the most distressing features, leading to recurrent chest infections and respiratory failure, which are often the cause of patients' demise.

Related Diseases for Brown-Vialetto-Van Laere Syndrome 1

Diseases related to Brown-Vialetto-Van Laere Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 riboflavin transporter deficiency neuronopathy 11.2
2 riboflavin transporter deficiency 11.2
3 brown-vialetto-van laere syndrome 2 11.0

Symptoms & Phenotypes for Brown-Vialetto-Van Laere Syndrome 1

Symptoms via clinical synopsis from OMIM:

53
Neurologic Central Nervous System:
clumsiness
hyperreflexia
fasciculations
bulbar palsy
ankle clonus
more
Head And Neck Eyes:
ptosis
external ophthalmoplegia

Skeletal Spine:
scoliosis
kyphosis

Respiratory Larynx:
vocal cord paralysis

Chest Diaphragm:
diaphragmatic weakness

Head And Neck Mouth:
tongue fasciculations
tongue atrophy

Muscle Soft Tissue:
muscle weakness, proximal and distal
muscle atrophy, proximal and distal
shoulder muscle weakness
hypotonia, truncal and appendicular

Voice:
soft voice due to vocal cord paralysis

Respiratory:
stridor
shortness of breath
nocturnal hypoventilation
increased susceptibility to respiratory infections

Abdomen Gastroin testinal:
dysphagia

Skeletal Hands:
hand muscle atrophy

Head And Neck Face:
myopathic facies
facial muscle weakness

Head And Neck Neck:
neck muscle weakness

Head And Neck Ears:
sensorineural hearing loss

Neurologic Peripheral Nervous System:
peripheral neuropathy (reported in 1 patient)


Clinical features from OMIM:

211530

Human phenotypes related to Brown-Vialetto-Van Laere Syndrome 1:

31 (show all 29)
# Description HPO Frequency HPO Source Accession
1 ataxia 31 occasional (7.5%) HP:0001251
2 respiratory distress 31 HP:0002098
3 clumsiness 31 HP:0002312
4 stridor 31 HP:0010307
5 ptosis 31 HP:0000508
6 muscular hypotonia 31 HP:0001252
7 dysphagia 31 HP:0002015
8 respiratory insufficiency 31 HP:0002093
9 scoliosis 31 HP:0002650
10 kyphosis 31 HP:0002808
11 facial palsy 31 HP:0010628
12 recurrent respiratory infections 31 HP:0002205
13 sensorineural hearing impairment 31 HP:0000407
14 peripheral neuropathy 31 HP:0009830
15 hand muscle atrophy 31 HP:0009130
16 vocal cord paralysis 31 HP:0001605
17 weak voice 31 HP:0001621
18 myopathic facies 31 HP:0002058
19 external ophthalmoplegia 31 HP:0000544
20 proximal muscle weakness 31 HP:0003701
21 bulbar palsy 31 HP:0001283
22 diaphragmatic weakness 31 HP:0009113
23 neck muscle weakness 31 HP:0000467
24 tongue fasciculations 31 HP:0001308
25 tongue atrophy 31 HP:0012473
26 ankle clonus 31 HP:0011448
27 nocturnal hypoventilation 31 HP:0002877
28 cranial nerve motor loss 31 HP:0007097
29 knee clonus 31 HP:0011449

UMLS symptoms related to Brown-Vialetto-Van Laere Syndrome 1:


facial paresis, clumsiness, stridor, muscular fasciculation, dyspnea

Drugs & Therapeutics for Brown-Vialetto-Van Laere Syndrome 1

Search Clinical Trials , NIH Clinical Center for Brown-Vialetto-Van Laere Syndrome 1

Genetic Tests for Brown-Vialetto-Van Laere Syndrome 1

Genetic tests related to Brown-Vialetto-Van Laere Syndrome 1:

# Genetic test Affiliating Genes
1 Brown-Vialetto-Van Laere Syndrome 1 28 SLC52A3

Anatomical Context for Brown-Vialetto-Van Laere Syndrome 1

MalaCards organs/tissues related to Brown-Vialetto-Van Laere Syndrome 1:

38
Tongue

Publications for Brown-Vialetto-Van Laere Syndrome 1

Articles related to Brown-Vialetto-Van Laere Syndrome 1:

(show all 48)
# Title Authors Year
1
Brown-Vialetto-Van Laere Syndrome as a Mimic of Neuroimmune Disorders: 3 Cases From the Clinic and Review of the Literature. ( 28116953 )
2017
2
A Case of Brown-Vialetto-Van Laere Syndrome Due To a Novel Mutation in SLC52A3 Gene: Clinical Course and Response to Riboflavin. ( 28856173 )
2017
3
Remarkable motor recovery after riboflavin therapy in adult-onset Brown-Vialetto-Van Laere syndrome. ( 27777325 )
2017
4
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
5
Auditory neuropathy in Brown-Vialetto-Van Laere syndrome due to riboflavin transporter RFVT2 deficiency. ( 26918385 )
2016
6
SLC52A3, A Brown-Vialetto-van Laere syndrome candidate gene is essential for mouse development, but dispensable for motor neuron differentiation. ( 26976849 )
2016
7
Auditory neuropathy spectrum disorder with Brown-Vialetto-Van Laere syndrome: challenges in hearing rehabilitation. ( 25994385 )
2015
8
Brown-Vialetto-Van Laere syndrome: two siblings with a new mutation and dramatic therapeutic effect of high-dose riboflavin. ( 26444347 )
2015
9
Brown-Vialetto-Van Laere syndrome: a 28-year follow-up. ( 26443808 )
2015
10
Adult onset Brown-Vialetto-Van Laere syndrome with opsoclonus and a novel heterozygous mutation: a case report. ( 25462087 )
2015
11
A novel compound heterozygous mutation of C20orf54 gene associated with Brown-Vialetto-Van Laere syndrome in an Italian family. ( 23750839 )
2013
12
Pontobulbar palsy and sensorineural deafness (Brown-Vialetto-van Laere syndrome): A case from Northwest Iran. ( 24470831 )
2013
13
Madras motor neuron disease (MMND) is distinct from the riboflavin transporter genetic defects that cause Brown-Vialetto-Van Laere syndrome. ( 24139842 )
2013
14
Brown-Vialetto-Van Laere syndrome: Cinical and neuroradiological findings of a genetically proven patient. ( 24079556 )
2013
15
Brown-Vialetto-Van Laere syndrome: clinical and neuropathologic findings with immunohistochemistry for C20orf54 in three affected patients. ( 23688382 )
2013
16
Brown-Vialetto-van Laere syndrome: A riboflavin responsive neuronopathy of infancy with singular features. ( 24206674 )
2013
17
Early use of high-dose riboflavin in a case of Brown-Vialetto-Van Laere syndrome. ( 22098162 )
2012
18
Brown-Vialetto-Van Laere syndrome: a riboflavin-unresponsive patient with a novel mutation in the C20orf54 gene. ( 22633641 )
2012
19
Protracted disease course after deafness in a man with Brown-Vialetto-Van Laere syndrome. ( 22772932 )
2012
20
Association of UBQLN1 mutation with Brown-Vialetto-Van Laere syndrome but not typical ALS. ( 22766032 )
2012
21
Four novel C20orf54 mutations identified in Brown-Vialetto-Van Laere syndrome patients. ( 22718020 )
2012
22
Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome. ( 22864630 )
2012
23
Brown-Vialetto-Van Laere syndrome and Fazio-Londe disease - treatable motor neuron diseases of childhood. ( 22211384 )
2012
24
A Commentary on 'Four novel C20ORF54 mutations identified in Brown-Vialetto-Van Laere syndrome patients.'. ( 22786578 )
2012
25
Four cases of brown-vialetto-van laere syndrome from Iran: Clinical and electrophysiologic findings. ( 24250848 )
2011
26
Cor pulmonale in a patient with Brown-Vialetto-Van Laere syndrome: a case report. ( 21055769 )
2011
27
Cochlear Implantation in Brown-Vialetto-Van-Laere syndrome. ( 20955635 )
2011
28
Exome sequencing in Brown-Vialetto-van Laere syndrome. ( 20920669 )
2010
29
Brown-Vialetto-Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused by mutations in c20orf54. ( 20206331 )
2010
30
Pontobulbar palsy and sensorineural deafness (Brown-Vialetto-van Laere syndrome): the first case from Libya. ( 20001484 )
2010
31
Anesthesia in Brown-Vialetto-Van Laere syndrome. ( 19807888 )
2009
32
Brown-Vialetto-Van Laere syndrome. ( 18416855 )
2008
33
A Brazilian family with Brown-Vialetto-van Laere syndrome with autosomal recessive inheritance. ( 17420823 )
2007
34
Severe sleep-disordered breathing in a patient with Brown-Vialetto-Van Laere syndrome: polysomnographic findings. ( 17669429 )
2007
35
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
36
Cardiac arrest in a patient with Brown-Vialetto-Van Laere syndrome. ( 16963409 )
2006
37
Brown-Vialetto-Van Laere syndrome: a rare syndrome in otology. ( 15992475 )
2005
38
Clinical features and neurophysiological follow-up in a case of Brown-Vialetto-Van Laere syndrome. ( 16009552 )
2005
39
Brown-Vialetto-Van Laere syndrome; variability in age at onset and disease progression highlighting the phenotypic overlap with Fazio-Londe disease. ( 16122634 )
2005
40
Brown-Vialetto-van Laere syndrome; the first Turkish case. ( 15508264 )
2004
41
Mental retardation associated with Brown-Vialetto-Van Laere syndrome. ( 12745620 )
2003
42
Brown-Vialetto-Van Laere syndrome: case report and literature review. ( 11465021 )
2000
43
Brown-Vialetto-Van Laere syndrome in a large inbred Lebanese family: confirmation of autosomal recessive inheritance? ( 10797435 )
2000
44
The Brown-Vialetto-van Laere syndrome: a case report and literature review. ( 24283429 )
1994
45
Brown-Vialetto-Van Laere syndrome. ( 8474605 )
1993
46
Recovery from respiratory muscle failure in a sporadic case of Brown-Vialetto-Van Laere syndrome with unusually late onset. ( 1512615 )
1992
47
Pontobulbar palsy and neurosensory deafness (Brown-Vialetto-Van Laere syndrome) with possible autosomal dominant inheritance. ( 2325091 )
1990
48
Ponto-bulbar palsy with deafness (Brown-Vialetto-Van Laere syndrome). ( 7229669 )
1981

Variations for Brown-Vialetto-Van Laere Syndrome 1

UniProtKB/Swiss-Prot genetic disease variations for Brown-Vialetto-Van Laere Syndrome 1:

71
# Symbol AA change Variation ID SNP ID
1 SLC52A3 p.Glu36Lys VAR_063694 rs267606686
2 SLC52A3 p.Arg132Trp VAR_063695 rs267606684
3 SLC52A3 p.Phe224Leu VAR_063696 rs267606685
4 SLC52A3 p.Val413Ala VAR_063700 rs267606687
5 SLC52A3 p.Phe457Leu VAR_063701 rs779750163
6 SLC52A3 p.Trp17Arg VAR_077422 rs797045190
7 SLC52A3 p.Asn21Ser VAR_077423 rs199588390
8 SLC52A3 p.Pro28Thr VAR_077424 rs267606688
9 SLC52A3 p.Val58Asp VAR_077425 rs797045192
10 SLC52A3 p.Glu71Lys VAR_077426 rs267606683

ClinVar genetic disease variations for Brown-Vialetto-Van Laere Syndrome 1:

6 (show all 29)
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC52A3 SLC52A3, TYR213TER undetermined variant Pathogenic
2 SLC52A3 NM_033409.3(SLC52A3): c.1325_1326delTC (p.Leu442Argfs) deletion Pathogenic/Likely pathogenic rs794728004 GRCh38 Chromosome 20, 761110: 761111
3 SLC52A3 NM_033409.3(SLC52A3): c.211G> T (p.Glu71Ter) single nucleotide variant Pathogenic rs267606683 GRCh37 Chromosome 20, 746208: 746208
4 SLC52A3 NM_033409.3(SLC52A3): c.394C> T (p.Arg132Trp) single nucleotide variant Pathogenic rs267606684 GRCh37 Chromosome 20, 746025: 746025
5 SLC52A3 NM_033409.3(SLC52A3): c.670T> C (p.Phe224Leu) single nucleotide variant Pathogenic rs267606685 GRCh37 Chromosome 20, 744545: 744545
6 SLC52A3 NM_033409.3(SLC52A3): c.106G> A (p.Glu36Lys) single nucleotide variant Pathogenic rs267606686 GRCh37 Chromosome 20, 746313: 746313
7 SLC52A3 NM_033409.3(SLC52A3): c.82C> A (p.Pro28Thr) single nucleotide variant Pathogenic rs267606688 GRCh37 Chromosome 20, 746337: 746337
8 SLC52A3 NM_033409.3(SLC52A3): c.1296C> A (p.Cys432Ter) single nucleotide variant Pathogenic rs758570021 GRCh37 Chromosome 20, 741784: 741784
9 SLC52A3 NM_033409.3(SLC52A3): c.1255G> A (p.Val419Met) single nucleotide variant Pathogenic rs797045198 GRCh38 Chromosome 20, 761181: 761181
10 SLC52A3 NM_033409.3(SLC52A3): c.1198-2A> C single nucleotide variant Pathogenic rs754753126 GRCh38 Chromosome 20, 761240: 761240
11 SLC52A3 NM_033409.3(SLC52A3): c.989G> T (p.Gly330Val) single nucleotide variant Pathogenic rs797045196 GRCh37 Chromosome 20, 744226: 744226
12 SLC52A3 NM_033409.3(SLC52A3): c.955C> T (p.Pro319Ser) single nucleotide variant Pathogenic rs797045195 GRCh37 Chromosome 20, 744260: 744260
13 SLC52A3 NM_033409.3(SLC52A3): c.796C> T (p.Arg266Trp) single nucleotide variant Pathogenic rs370499474 GRCh38 Chromosome 20, 763775: 763775
14 SLC52A3 NM_033409.3(SLC52A3): c.671T> G (p.Phe224Cys) single nucleotide variant Pathogenic rs797045197 GRCh37 Chromosome 20, 744544: 744544
15 SLC52A3 NM_033409.3(SLC52A3): c.659C> A (p.Pro220His) single nucleotide variant Pathogenic rs797045194 GRCh37 Chromosome 20, 744556: 744556
16 SLC52A3 NM_033409.3(SLC52A3): c.639C> G (p.Tyr213Ter) single nucleotide variant Pathogenic rs778363575 GRCh38 Chromosome 20, 763932: 763932
17 SLC52A3 NM_033409.3(SLC52A3): c.634C> T (p.Arg212Cys) single nucleotide variant Pathogenic rs778479139 GRCh37 Chromosome 20, 744581: 744581
18 SLC52A3 NM_033409.3(SLC52A3): c.403A> G (p.Thr135Ala) single nucleotide variant Pathogenic rs527853872 GRCh37 Chromosome 20, 746016: 746016
19 SLC52A3 NM_033409.3(SLC52A3): c.374C> A (p.Thr125Asn) single nucleotide variant Pathogenic rs767263985 GRCh38 Chromosome 20, 765401: 765401
20 SLC52A3 NM_033409.3(SLC52A3): c.224T> C (p.Ile75Thr) single nucleotide variant Pathogenic rs797045193 GRCh37 Chromosome 20, 746195: 746195
21 SLC52A3 NM_033409.3(SLC52A3): c.211G> A (p.Glu71Lys) single nucleotide variant Pathogenic rs267606683 GRCh37 Chromosome 20, 746208: 746208
22 SLC52A3 NM_033409.3(SLC52A3): c.173T> A (p.Val58Asp) single nucleotide variant Pathogenic rs797045192 GRCh38 Chromosome 20, 765602: 765602
23 SLC52A3 NM_033409.3(SLC52A3): c.160G> A (p.Gly54Arg) single nucleotide variant Pathogenic rs797045191 GRCh38 Chromosome 20, 765615: 765615
24 SLC52A3 NM_033409.3(SLC52A3): c.62A> G (p.Asn21Ser) single nucleotide variant Pathogenic rs199588390 GRCh38 Chromosome 20, 765713: 765713
25 SLC52A3 NM_033409.3(SLC52A3): c.49T> C (p.Trp17Arg) single nucleotide variant Pathogenic rs797045190 GRCh38 Chromosome 20, 765726: 765726
26 SLC52A3 NM_033409.3(SLC52A3): c.568-19_568-18insCTGATTGAC insertion Pathogenic
27 SLC52A3 NM_033409.3: c.1128-1129_insT insertion Pathogenic
28 SLC52A3 NM_033409.3(SLC52A3): c.1293G> A (p.Trp431Ter) single nucleotide variant Pathogenic rs1060499531 GRCh37 Chromosome 20, 741787: 741787
29 SLC52A3 NM_033409.3(SLC52A3): c.1316G> A (p.Gly439Asp) single nucleotide variant Likely pathogenic GRCh37 Chromosome 20, 741764: 741764

Expression for Brown-Vialetto-Van Laere Syndrome 1

Search GEO for disease gene expression data for Brown-Vialetto-Van Laere Syndrome 1.

Pathways for Brown-Vialetto-Van Laere Syndrome 1

GO Terms for Brown-Vialetto-Van Laere Syndrome 1

Sources for Brown-Vialetto-Van Laere Syndrome 1

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