MCID: BRW009
MIFTS: 26

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 54 24 71 29 13
Pontobulbar Palsy with Deafness 24 71
Bvvls1 24 71
Progressive Bulbar Palsy with Sensorineural Deafness 24
Bulbar Palsy Progressive with Sensorineural Deafness 71
Brown-Vialetto-Van Laere Syndrome 69

Characteristics:

OMIM:

54
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 progressive juvenile onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Brown-Vialetto-Van Laere Syndrome 1

OMIM : 54
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 nocturnal hypoventilation, scoliosis and dysphagia. 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:

id Related Disease Score Top Affiliating Genes
1 riboflavin transporter deficiency neuronopathy 11.1
2 riboflavin transporter deficiency 11.1
3 brown-vialetto-van laere syndrome 2 10.9

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

Symptoms via clinical synopsis from OMIM:

54

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

Abdomen- Gastroin testinal:
dysphagia

Head And Neck- Eyes:
ptosis
external ophthalmoplegia

Head And Neck- Ears:
sensorineural hearing loss

Skeletal- Hands:
hand muscle atrophy

Respiratory- Larynx:
vocal cord paralysis

Chest- Diaphragm:
diaphragmatic weakness

Voice:
soft voice due to vocal cord paralysis

Skeletal- Spine:
scoliosis
kyphosis

Neurologic- Central Nervous System:
hyperreflexia
cranial nerve palsies
ankle clonus
fasciculations
fibrillations
more
Head And Neck- Face:
myopathic facies
facial muscle weakness

Head And Neck- Neck:
neck muscle weakness

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

Head And Neck- Mouth:
tongue atrophy
tongue fasciculations

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 29)
id Description HPO Frequency HPO Source Accession
1 nocturnal hypoventilation 32 HP:0002877
2 scoliosis 32 HP:0002650
3 dysphagia 32 HP:0002015
4 ataxia 32 occasional (7.5%) HP:0001251
5 recurrent respiratory infections 32 HP:0002205
6 ptosis 32 HP:0000508
7 peripheral neuropathy 32 HP:0009830
8 kyphosis 32 HP:0002808
9 myopathic facies 32 HP:0002058
10 dyspnea 32 HP:0002094
11 neck muscle weakness 32 HP:0000467
12 respiratory insufficiency 32 HP:0002093
13 hand muscle atrophy 32 HP:0009130
14 proximal muscle weakness 32 HP:0003701
15 vocal cord paralysis 32 HP:0001605
16 muscular hypotonia 32 HP:0001252
17 ankle clonus 32 HP:0011448
18 stridor 32 HP:0010307
19 sensorineural hearing impairment 32 HP:0000407
20 external ophthalmoplegia 32 HP:0000544
21 tongue atrophy 32 HP:0012473
22 facial palsy 32 HP:0010628
23 tongue fasciculations 32 HP:0001308
24 diaphragmatic weakness 32 HP:0009113
25 clumsiness 32 HP:0002312
26 bulbar palsy 32 HP:0001283
27 weak voice 32 HP:0001621
28 cranial nerve motor loss 32 HP:0007097
29 knee clonus 32 HP:0011449

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


dyspnea, muscular fasciculation, stridor, clumsiness, facial paresis

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:

id Genetic test Affiliating Genes
1 Brown-Vialetto-Van Laere Syndrome 1 29 24 SLC52A3

Anatomical Context for Brown-Vialetto-Van Laere Syndrome 1

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

39
Tongue

Publications for Brown-Vialetto-Van Laere Syndrome 1

Variations for Brown-Vialetto-Van Laere Syndrome 1

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

71
id 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 31)
id Gene Variation Type Significance SNP ID Assembly Location
1 SLC52A3 NM_033409.3(SLC52A3): c.1325_1326delTC (p.Leu442Argfs) deletion Pathogenic/Likely pathogenic rs794728004 GRCh38 Chromosome 20, 761110: 761111
2 SLC52A3 NM_033409.3(SLC52A3): c.211G> T (p.Glu71Ter) single nucleotide variant Pathogenic rs267606683 GRCh37 Chromosome 20, 746208: 746208
3 SLC52A3 NM_033409.3(SLC52A3): c.394C> T (p.Arg132Trp) single nucleotide variant Pathogenic rs267606684 GRCh37 Chromosome 20, 746025: 746025
4 SLC52A3 NM_033409.3(SLC52A3): c.670T> C (p.Phe224Leu) single nucleotide variant Pathogenic rs267606685 GRCh37 Chromosome 20, 744545: 744545
5 SLC52A3 NM_033409.3(SLC52A3): c.106G> A (p.Glu36Lys) single nucleotide variant Pathogenic rs267606686 GRCh37 Chromosome 20, 746313: 746313
6 SLC52A3 NM_033409.3(SLC52A3): c.1238T> C (p.Val413Ala) single nucleotide variant Pathogenic rs267606687 GRCh37 Chromosome 20, 741842: 741842
7 SLC52A3 NM_033409.3(SLC52A3): c.82C> A (p.Pro28Thr) single nucleotide variant Pathogenic rs267606688 GRCh37 Chromosome 20, 746337: 746337
8 SLC52A3 SLC52A3, TYR213TER undetermined variant Pathogenic
9 SLC52A3 NM_033409.3(SLC52A3): c.1296C> A (p.Cys432Ter) single nucleotide variant Pathogenic rs758570021 GRCh37 Chromosome 20, 741784: 741784
10 SLC52A3 NM_033409.3(SLC52A3): c.1255G> A (p.Val419Met) single nucleotide variant Pathogenic rs797045198 GRCh38 Chromosome 20, 761181: 761181
11 SLC52A3 NM_033409.3(SLC52A3): c.1198-2A> C single nucleotide variant Pathogenic rs754753126 GRCh38 Chromosome 20, 761240: 761240
12 SLC52A3 NM_033409.3(SLC52A3): c.1048T> A (p.Leu350Met) single nucleotide variant Pathogenic rs76947760 GRCh38 Chromosome 20, 763523: 763523
13 SLC52A3 NM_033409.3(SLC52A3): c.989G> T (p.Gly330Val) single nucleotide variant Pathogenic rs797045196 GRCh37 Chromosome 20, 744226: 744226
14 SLC52A3 NM_033409.3(SLC52A3): c.955C> T (p.Pro319Ser) single nucleotide variant Pathogenic rs797045195 GRCh37 Chromosome 20, 744260: 744260
15 SLC52A3 NM_033409.3(SLC52A3): c.935C> T (p.Ala312Val) single nucleotide variant Pathogenic rs752218005 GRCh37 Chromosome 20, 744280: 744280
16 SLC52A3 NM_033409.3(SLC52A3): c.796C> T (p.Arg266Trp) single nucleotide variant Pathogenic rs370499474 GRCh38 Chromosome 20, 763775: 763775
17 SLC52A3 NM_033409.3(SLC52A3): c.671T> G (p.Phe224Cys) single nucleotide variant Pathogenic rs797045197 GRCh37 Chromosome 20, 744544: 744544
18 SLC52A3 NM_033409.3(SLC52A3): c.659C> A (p.Pro220His) single nucleotide variant Pathogenic rs797045194 GRCh37 Chromosome 20, 744556: 744556
19 SLC52A3 NM_033409.3(SLC52A3): c.639C> G (p.Tyr213Ter) single nucleotide variant Pathogenic rs778363575 GRCh38 Chromosome 20, 763932: 763932
20 SLC52A3 NM_033409.3(SLC52A3): c.634C> T (p.Arg212Cys) single nucleotide variant Pathogenic rs778479139 GRCh37 Chromosome 20, 744581: 744581
21 SLC52A3 NM_033409.3(SLC52A3): c.403A> G (p.Thr135Ala) single nucleotide variant Pathogenic rs527853872 GRCh37 Chromosome 20, 746016: 746016
22 SLC52A3 NM_033409.3(SLC52A3): c.374C> A (p.Thr125Asn) single nucleotide variant Pathogenic rs767263985 GRCh38 Chromosome 20, 765401: 765401
23 SLC52A3 NM_033409.3(SLC52A3): c.224T> C (p.Ile75Thr) single nucleotide variant Pathogenic rs797045193 GRCh37 Chromosome 20, 746195: 746195
24 SLC52A3 NM_033409.3(SLC52A3): c.211G> A (p.Glu71Lys) single nucleotide variant Pathogenic rs267606683 GRCh37 Chromosome 20, 746208: 746208
25 SLC52A3 NM_033409.3(SLC52A3): c.173T> A (p.Val58Asp) single nucleotide variant Pathogenic rs797045192 GRCh38 Chromosome 20, 765602: 765602
26 SLC52A3 NM_033409.3(SLC52A3): c.160G> A (p.Gly54Arg) single nucleotide variant Pathogenic rs797045191 GRCh38 Chromosome 20, 765615: 765615
27 SLC52A3 NM_033409.3(SLC52A3): c.62A> G (p.Asn21Ser) single nucleotide variant Pathogenic rs199588390 GRCh38 Chromosome 20, 765713: 765713
28 SLC52A3 NM_033409.3(SLC52A3): c.49T> C (p.Trp17Arg) single nucleotide variant Pathogenic rs797045190 GRCh38 Chromosome 20, 765726: 765726
29 SLC52A3 NM_033409.3(SLC52A3): c.568-19_568-18insCTGATTGAC insertion Pathogenic
30 SLC52A3 NM_033409.3: c.1128-1129_insT insertion Pathogenic
31 SLC52A3 NM_033409.3(SLC52A3): c.1293G> A (p.Trp431Ter) single nucleotide variant Pathogenic rs1060499531 GRCh37 Chromosome 20, 741787: 741787

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

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