BVVLS1
MCID: BRW009
MIFTS: 28

Brown-Vialetto-Van Laere Syndrome 1 (BVVLS1)

Categories: Ear diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare 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 57 75 29 13 6
Pontobulbar Palsy with Deafness 57 75
Bvvls1 57 75
Bulbar Palsy, Progressive, with Sensorineural Deafness 57
Bulbar Palsy Progressive with Sensorineural Deafness 75
Brown-Vialetto-Van Laere Syndrome, Type 1 40
Brown-Vialetto-Van Laere Syndrome 73

Characteristics:

OMIM:

57
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:

32
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 : 57 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 dyspnea, clumsiness and stridor. An important gene associated with Brown-Vialetto-Van Laere Syndrome 1 is SLC52A3 (Solute Carrier Family 52 Member 3). Affiliated tissues include tongue and cerebellum, and related phenotypes are ptosis and ataxia

UniProtKB/Swiss-Prot : 75 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 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 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 riboflavin transporter deficiency neuronopathy 11.4
2 riboflavin transporter deficiency 11.4
3 brown-vialetto-van laere syndrome 2 11.1

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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
ptosis
external ophthalmoplegia

Abdomen Gastrointestinal:
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 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

Neurologic Central Nervous System:
hyperreflexia
fasciculations
clumsiness
ankle clonus
bulbar palsy
more
Skeletal Spine:
scoliosis
kyphosis

Respiratory Larynx:
vocal cord paralysis

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

Chest Diaphragm:
diaphragmatic 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:

32 (show all 30)
# Description HPO Frequency HPO Source Accession
1 ptosis 32 HP:0000508
2 ataxia 32 occasional (7.5%) HP:0001251
3 muscular hypotonia 32 HP:0001252
4 dysphagia 32 HP:0002015
5 respiratory insufficiency 32 HP:0002093
6 scoliosis 32 HP:0002650
7 kyphosis 32 HP:0002808
8 facial palsy 32 HP:0010628
9 recurrent respiratory infections 32 HP:0002205
10 sensorineural hearing impairment 32 HP:0000407
11 peripheral neuropathy 32 HP:0009830
12 respiratory distress 32 HP:0002098
13 hand muscle atrophy 32 HP:0009130
14 vocal cord paralysis 32 HP:0001605
15 clumsiness 32 HP:0002312
16 proximal muscle weakness 32 HP:0003701
17 weak voice 32 HP:0001621
18 myopathic facies 32 HP:0002058
19 nocturnal hypoventilation 32 HP:0002877
20 neck muscle weakness 32 HP:0000467
21 ankle clonus 32 HP:0011448
22 external ophthalmoplegia 32 HP:0000544
23 stridor 32 HP:0010307
24 bulbar palsy 32 HP:0001283
25 diaphragmatic weakness 32 HP:0009113
26 tongue fasciculations 32 HP:0001308
27 tongue atrophy 32 HP:0012473
28 abnormal cerebellum morphology 32 HP:0001317
29 cranial nerve motor loss 32 HP:0007097
30 knee clonus 32 HP:0011449

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


dyspnea, clumsiness, stridor, facial paresis, muscular fasciculation

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 29 SLC52A3

Anatomical Context for Brown-Vialetto-Van Laere Syndrome 1

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

41
Tongue, Cerebellum

Publications for Brown-Vialetto-Van Laere Syndrome 1

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

# Title Authors Year
1
Progressive pontobulbar palsy with deafness: clinical and pathological study of two cases. ( 6970563 )
1981

Variations for Brown-Vialetto-Van Laere Syndrome 1

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

75
# 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 top 50) (show all 173)
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC52A3 NM_033409.3(SLC52A3): c.1325_1326delTC (p.Leu442Argfs) deletion Likely pathogenic rs794728004 GRCh37 Chromosome 20, 741754: 741755
2 SLC52A3 NM_033409.3(SLC52A3): c.1325_1326delTC (p.Leu442Argfs) deletion 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.211G> T (p.Glu71Ter) single nucleotide variant Pathogenic rs267606683 GRCh38 Chromosome 20, 765564: 765564
5 SLC52A3 NM_033409.3(SLC52A3): c.394C> T (p.Arg132Trp) single nucleotide variant Uncertain significance rs267606684 GRCh37 Chromosome 20, 746025: 746025
6 SLC52A3 NM_033409.3(SLC52A3): c.394C> T (p.Arg132Trp) single nucleotide variant Uncertain significance rs267606684 GRCh38 Chromosome 20, 765381: 765381
7 SLC52A3 NM_033409.3(SLC52A3): c.670T> C (p.Phe224Leu) single nucleotide variant Pathogenic rs267606685 GRCh37 Chromosome 20, 744545: 744545
8 SLC52A3 NM_033409.3(SLC52A3): c.670T> C (p.Phe224Leu) single nucleotide variant Pathogenic rs267606685 GRCh38 Chromosome 20, 763901: 763901
9 SLC52A3 NM_033409.3(SLC52A3): c.106G> A (p.Glu36Lys) single nucleotide variant Uncertain significance rs267606686 GRCh37 Chromosome 20, 746313: 746313
10 SLC52A3 NM_033409.3(SLC52A3): c.106G> A (p.Glu36Lys) single nucleotide variant Uncertain significance rs267606686 GRCh38 Chromosome 20, 765669: 765669
11 SLC52A3 NM_033409.3(SLC52A3): c.1238T> C (p.Val413Ala) single nucleotide variant Uncertain significance rs267606687 GRCh37 Chromosome 20, 741842: 741842
12 SLC52A3 NM_033409.3(SLC52A3): c.1238T> C (p.Val413Ala) single nucleotide variant Uncertain significance rs267606687 GRCh38 Chromosome 20, 761198: 761198
13 SLC52A3 NM_033409.3(SLC52A3): c.82C> A (p.Pro28Thr) single nucleotide variant Pathogenic rs267606688 GRCh37 Chromosome 20, 746337: 746337
14 SLC52A3 NM_033409.3(SLC52A3): c.82C> A (p.Pro28Thr) single nucleotide variant Pathogenic rs267606688 GRCh38 Chromosome 20, 765693: 765693
15 SLC52A3 SLC52A3, TYR213TER undetermined variant Pathogenic
16 SLC52A3 NM_033409.3(SLC52A3): c.1371C> G (p.Phe457Leu) single nucleotide variant Uncertain significance rs145431028 GRCh38 Chromosome 20, 761065: 761065
17 SLC52A3 NM_033409.3(SLC52A3): c.1371C> G (p.Phe457Leu) single nucleotide variant Uncertain significance rs145431028 GRCh37 Chromosome 20, 741709: 741709
18 SLC52A3 NM_033409.3(SLC52A3): c.1296C> A (p.Cys432Ter) single nucleotide variant Pathogenic rs758570021 GRCh37 Chromosome 20, 741784: 741784
19 SLC52A3 NM_033409.3(SLC52A3): c.1296C> A (p.Cys432Ter) single nucleotide variant Pathogenic rs758570021 GRCh38 Chromosome 20, 761140: 761140
20 SLC52A3 NM_033409.3(SLC52A3): c.1255G> A (p.Val419Met) single nucleotide variant Pathogenic rs797045198 GRCh38 Chromosome 20, 761181: 761181
21 SLC52A3 NM_033409.3(SLC52A3): c.1255G> A (p.Val419Met) single nucleotide variant Pathogenic rs797045198 GRCh37 Chromosome 20, 741825: 741825
22 SLC52A3 NM_033409.3(SLC52A3): c.1198-2A> C single nucleotide variant Pathogenic rs754753126 GRCh38 Chromosome 20, 761240: 761240
23 SLC52A3 NM_033409.3(SLC52A3): c.1198-2A> C single nucleotide variant Pathogenic rs754753126 GRCh37 Chromosome 20, 741884: 741884
24 SLC52A3 NM_033409.3(SLC52A3): c.1048T> A (p.Leu350Met) single nucleotide variant Benign rs76947760 GRCh38 Chromosome 20, 763523: 763523
25 SLC52A3 NM_033409.3(SLC52A3): c.1048T> A (p.Leu350Met) single nucleotide variant Benign rs76947760 GRCh37 Chromosome 20, 744167: 744167
26 SLC52A3 NM_033409.3(SLC52A3): c.989G> T (p.Gly330Val) single nucleotide variant Pathogenic rs797045196 GRCh37 Chromosome 20, 744226: 744226
27 SLC52A3 NM_033409.3(SLC52A3): c.989G> T (p.Gly330Val) single nucleotide variant Pathogenic rs797045196 GRCh38 Chromosome 20, 763582: 763582
28 SLC52A3 NM_033409.3(SLC52A3): c.955C> T (p.Pro319Ser) single nucleotide variant Pathogenic rs797045195 GRCh37 Chromosome 20, 744260: 744260
29 SLC52A3 NM_033409.3(SLC52A3): c.955C> T (p.Pro319Ser) single nucleotide variant Pathogenic rs797045195 GRCh38 Chromosome 20, 763616: 763616
30 SLC52A3 NM_033409.3(SLC52A3): c.935C> T (p.Ala312Val) single nucleotide variant Uncertain significance rs752218005 GRCh37 Chromosome 20, 744280: 744280
31 SLC52A3 NM_033409.3(SLC52A3): c.935C> T (p.Ala312Val) single nucleotide variant Uncertain significance rs752218005 GRCh38 Chromosome 20, 763636: 763636
32 SLC52A3 NM_033409.3(SLC52A3): c.796C> T (p.Arg266Trp) single nucleotide variant Pathogenic rs370499474 GRCh38 Chromosome 20, 763775: 763775
33 SLC52A3 NM_033409.3(SLC52A3): c.796C> T (p.Arg266Trp) single nucleotide variant Pathogenic rs370499474 GRCh37 Chromosome 20, 744419: 744419
34 SLC52A3 NM_033409.3(SLC52A3): c.671T> G (p.Phe224Cys) single nucleotide variant Pathogenic rs797045197 GRCh37 Chromosome 20, 744544: 744544
35 SLC52A3 NM_033409.3(SLC52A3): c.671T> G (p.Phe224Cys) single nucleotide variant Pathogenic rs797045197 GRCh38 Chromosome 20, 763900: 763900
36 SLC52A3 NM_033409.3(SLC52A3): c.659C> A (p.Pro220His) single nucleotide variant Pathogenic rs797045194 GRCh37 Chromosome 20, 744556: 744556
37 SLC52A3 NM_033409.3(SLC52A3): c.659C> A (p.Pro220His) single nucleotide variant Pathogenic rs797045194 GRCh38 Chromosome 20, 763912: 763912
38 SLC52A3 NM_033409.3(SLC52A3): c.639C> G (p.Tyr213Ter) single nucleotide variant Pathogenic rs778363575 GRCh38 Chromosome 20, 763932: 763932
39 SLC52A3 NM_033409.3(SLC52A3): c.639C> G (p.Tyr213Ter) single nucleotide variant Pathogenic rs778363575 GRCh37 Chromosome 20, 744576: 744576
40 SLC52A3 NM_033409.3(SLC52A3): c.634C> T (p.Arg212Cys) single nucleotide variant Pathogenic rs778479139 GRCh37 Chromosome 20, 744581: 744581
41 SLC52A3 NM_033409.3(SLC52A3): c.634C> T (p.Arg212Cys) single nucleotide variant Pathogenic rs778479139 GRCh38 Chromosome 20, 763937: 763937
42 SLC52A3 NM_033409.3(SLC52A3): c.403A> G (p.Thr135Ala) single nucleotide variant Uncertain significance rs527853872 GRCh37 Chromosome 20, 746016: 746016
43 SLC52A3 NM_033409.3(SLC52A3): c.403A> G (p.Thr135Ala) single nucleotide variant Uncertain significance rs527853872 GRCh38 Chromosome 20, 765372: 765372
44 SLC52A3 NM_033409.3(SLC52A3): c.374C> A (p.Thr125Asn) single nucleotide variant Pathogenic rs767263985 GRCh38 Chromosome 20, 765401: 765401
45 SLC52A3 NM_033409.3(SLC52A3): c.374C> A (p.Thr125Asn) single nucleotide variant Pathogenic rs767263985 GRCh37 Chromosome 20, 746045: 746045
46 SLC52A3 NM_033409.3(SLC52A3): c.224T> C (p.Ile75Thr) single nucleotide variant Pathogenic rs797045193 GRCh37 Chromosome 20, 746195: 746195
47 SLC52A3 NM_033409.3(SLC52A3): c.224T> C (p.Ile75Thr) single nucleotide variant Pathogenic rs797045193 GRCh38 Chromosome 20, 765551: 765551
48 SLC52A3 NM_033409.3(SLC52A3): c.211G> A (p.Glu71Lys) single nucleotide variant Pathogenic rs267606683 GRCh37 Chromosome 20, 746208: 746208
49 SLC52A3 NM_033409.3(SLC52A3): c.211G> A (p.Glu71Lys) single nucleotide variant Pathogenic rs267606683 GRCh38 Chromosome 20, 765564: 765564
50 SLC52A3 NM_033409.3(SLC52A3): c.173T> A (p.Val58Asp) single nucleotide variant Pathogenic rs797045192 GRCh38 Chromosome 20, 765602: 765602

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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