BVVLS2
MCID: BRW008
MIFTS: 24

Brown-Vialetto-Van Laere Syndrome 2 (BVVLS2)

Categories: Ear diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Brown-Vialetto-Van Laere Syndrome 2

MalaCards integrated aliases for Brown-Vialetto-Van Laere Syndrome 2:

Name: Brown-Vialetto-Van Laere Syndrome 2 57 53 75 29 13 6 73
Bvvls2 57 75
Brown-Vialetto-Van Laere Syndrome, Type 2 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
variable severity
progressive disorder
early death from respiratory failure may occur
onset in first few years of life
some patients show significant clinical improvement with riboflavin supplementation


HPO:

32
brown-vialetto-van laere syndrome 2:
Onset and clinical course variable expressivity progressive
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Brown-Vialetto-Van Laere Syndrome 2

OMIM : 57 Brown-Vialetto-Van Laere syndrome-2 is an autosomal recessive progressive neurologic disorder characterized by early childhood onset of sensorineural deafness, bulbar dysfunction, and severe diffuse muscle weakness and wasting of the upper and lower limbs and axial muscles, resulting in respiratory insufficiency. Some patients may lose independent ambulation. Because it results from a defect in riboflavin metabolism, some patients may benefit from high-dose riboflavin supplementation (summary by Johnson et al., 2012; Foley et al., 2014). For discussion of genetic heterogeneity of Brown-Vialetto-Van Laere syndrome, see BVVLS1 (211530). (614707)

MalaCards based summary : Brown-Vialetto-Van Laere Syndrome 2, also known as bvvls2, is related to brown-vialetto-van laere syndrome, and has symptoms including ataxia, clumsiness and facial paresis. An important gene associated with Brown-Vialetto-Van Laere Syndrome 2 is SLC52A2 (Solute Carrier Family 52 Member 2). Affiliated tissues include tongue, and related phenotypes are nystagmus and ataxia

UniProtKB/Swiss-Prot : 75 Brown-Vialetto-Van Laere syndrome 2: An autosomal recessive progressive neurologic disorder characterized by early childhood onset of sensorineural deafness, bulbar dysfunction, and severe diffuse muscle weakness and wasting resulting in respiratory insufficiency and loss of independent ambulation. Because it results from a defect in riboflavin metabolism, some patients may benefit from high-dose riboflavin supplementation.

Related Diseases for Brown-Vialetto-Van Laere Syndrome 2

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 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 brown-vialetto-van laere syndrome 9.7 FBXL6 SLC52A2

Symptoms & Phenotypes for Brown-Vialetto-Van Laere Syndrome 2

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
nystagmus
optic atrophy
visual loss
absent pupillary reflex

Respiratory:
respiratory insufficiency
sleep hypoventilation (rare)

Head And Neck Neck:
neck muscle weakness

Laboratory Abnormalities:
organic aciduria
abnormal acylcarnitine profiles

Head And Neck Face:
facial muscle weakness

Skeletal Spine:
scoliosis (in some patients)
kyphoscoliosis (in some patients)

Abdomen Gastrointestinal:
dysphagia (in some patients)

Neurologic Central Nervous System:
ataxia
clumsiness
bulbar palsy
loss of independent ambulation
cranial nerve palsies
more
Neurologic Peripheral Nervous System:
areflexia
axonal sensorimotor neuropathy
sural nerve biopsy shows loss of large myelinated fibers

Head And Neck Mouth:
tongue fasciculations

Muscle Soft Tissue:
hypotonia
fibrillations
muscle weakness, proximal, distal, and axial, severe
upper limb muscle weakness may be more severe than lower limb weakness
muscle atrophy, diffuse, severe
more
Head And Neck Ears:
hearing loss, sensorineural
absent brainstem auditory-evoked responses

Skeletal Hands:
claw hands

Neurologic Behavioral Psychiatric Manifestations:
aggressive behavior (in some patients)


Clinical features from OMIM:

614707

Human phenotypes related to Brown-Vialetto-Van Laere Syndrome 2:

32 (show all 22)
# Description HPO Frequency HPO Source Accession
1 nystagmus 32 occasional (7.5%) HP:0000639
2 ataxia 32 HP:0001251
3 dysphagia 32 occasional (7.5%) HP:0002015
4 respiratory insufficiency 32 HP:0002093
5 facial palsy 32 HP:0010628
6 sensorineural hearing impairment 32 HP:0000407
7 optic atrophy 32 occasional (7.5%) HP:0000648
8 aggressive behavior 32 occasional (7.5%) HP:0000718
9 visual loss 32 occasional (7.5%) HP:0000572
10 areflexia 32 HP:0001284
11 split hand 32 HP:0001171
12 clumsiness 32 HP:0002312
13 hypokinesia 32 HP:0002375
14 sensorimotor neuropathy 32 HP:0007141
15 generalized hypotonia 32 HP:0001290
16 limb muscle weakness 32 HP:0003690
17 neck muscle weakness 32 HP:0000467
18 kyphoscoliosis 32 occasional (7.5%) HP:0002751
19 generalized amyotrophy 32 HP:0003700
20 bulbar palsy 32 HP:0001283
21 tongue fasciculations 32 HP:0001308
22 organic aciduria 32 occasional (7.5%) HP:0001992

UMLS symptoms related to Brown-Vialetto-Van Laere Syndrome 2:


ataxia, clumsiness, facial paresis, unspecified visual loss

Drugs & Therapeutics for Brown-Vialetto-Van Laere Syndrome 2

Search Clinical Trials , NIH Clinical Center for Brown-Vialetto-Van Laere Syndrome 2

Genetic Tests for Brown-Vialetto-Van Laere Syndrome 2

Genetic tests related to Brown-Vialetto-Van Laere Syndrome 2:

# Genetic test Affiliating Genes
1 Brown-Vialetto-Van Laere Syndrome 2 29 SLC52A2

Anatomical Context for Brown-Vialetto-Van Laere Syndrome 2

MalaCards organs/tissues related to Brown-Vialetto-Van Laere Syndrome 2:

41
Tongue

Publications for Brown-Vialetto-Van Laere Syndrome 2

Variations for Brown-Vialetto-Van Laere Syndrome 2

UniProtKB/Swiss-Prot genetic disease variations for Brown-Vialetto-Van Laere Syndrome 2:

75
# Symbol AA change Variation ID SNP ID
1 SLC52A2 p.Gly306Arg VAR_068694 rs398124641
2 SLC52A2 p.Trp31Ser VAR_077433 rs797045199
3 SLC52A2 p.Ser52Phe VAR_077434 rs397514657
4 SLC52A2 p.Leu123Pro VAR_077435 rs397514538
5 SLC52A2 p.Pro141Thr VAR_077436 rs377740960
6 SLC52A2 p.Ala284Asp VAR_077437 rs398123067
7 SLC52A2 p.Tyr305Cys VAR_077438 rs398123068
8 SLC52A2 p.Leu312Pro VAR_077439 rs754320812
9 SLC52A2 p.Leu339Pro VAR_077440 rs148234606
10 SLC52A2 p.Gly419Ser VAR_077441 rs397514658

ClinVar genetic disease variations for Brown-Vialetto-Van Laere Syndrome 2:

6 (show top 50) (show all 172)
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC52A2 NM_024531.4(SLC52A2): c.916G> A (p.Gly306Arg) single nucleotide variant Pathogenic rs398124641 GRCh37 Chromosome 8, 145584068: 145584068
2 SLC52A2 NM_024531.4(SLC52A2): c.916G> A (p.Gly306Arg) single nucleotide variant Pathogenic rs398124641 GRCh38 Chromosome 8, 144360408: 144360408
3 SLC52A2 NM_024531.4(SLC52A2): c.368T> C (p.Leu123Pro) single nucleotide variant Pathogenic rs397514538 GRCh37 Chromosome 8, 145583520: 145583520
4 SLC52A2 NM_024531.4(SLC52A2): c.368T> C (p.Leu123Pro) single nucleotide variant Pathogenic rs397514538 GRCh38 Chromosome 8, 144359860: 144359860
5 SLC52A2 NM_001253816.1(SLC52A2): c.1016T> C (p.Leu339Pro) single nucleotide variant Pathogenic rs148234606 GRCh37 Chromosome 8, 145584264: 145584264
6 SLC52A2 NM_001253816.1(SLC52A2): c.1016T> C (p.Leu339Pro) single nucleotide variant Pathogenic rs148234606 GRCh38 Chromosome 8, 144360604: 144360604
7 SLC52A2 NM_024531.4(SLC52A2): c.155C> T (p.Ser52Phe) single nucleotide variant Pathogenic rs397514657 GRCh37 Chromosome 8, 145583307: 145583307
8 SLC52A2 NM_024531.4(SLC52A2): c.155C> T (p.Ser52Phe) single nucleotide variant Pathogenic rs397514657 GRCh38 Chromosome 8, 144359647: 144359647
9 SLC52A2 NM_024531.4(SLC52A2): c.1255G> A (p.Gly419Ser) single nucleotide variant Pathogenic rs397514658 GRCh37 Chromosome 8, 145584592: 145584592
10 SLC52A2 NM_024531.4(SLC52A2): c.1255G> A (p.Gly419Ser) single nucleotide variant Pathogenic rs397514658 GRCh38 Chromosome 8, 144360932: 144360932
11 SLC52A2 NM_024531.4(SLC52A2): c.851C> A (p.Ala284Asp) single nucleotide variant Pathogenic rs398123067 GRCh37 Chromosome 8, 145584003: 145584003
12 SLC52A2 NM_024531.4(SLC52A2): c.851C> A (p.Ala284Asp) single nucleotide variant Pathogenic rs398123067 GRCh38 Chromosome 8, 144360343: 144360343
13 SLC52A2 NM_024531.4(SLC52A2): c.914A> G (p.Tyr305Cys) single nucleotide variant Pathogenic rs398123068 GRCh37 Chromosome 8, 145584066: 145584066
14 SLC52A2 NM_024531.4(SLC52A2): c.914A> G (p.Tyr305Cys) single nucleotide variant Pathogenic rs398123068 GRCh38 Chromosome 8, 144360406: 144360406
15 SLC52A2 NM_001253815.1(SLC52A2): c.808C> T (p.Gln270Ter) single nucleotide variant Pathogenic rs375088539 GRCh38 Chromosome 8, 144360300: 144360300
16 SLC52A2 NM_001253815.1(SLC52A2): c.808C> T (p.Gln270Ter) single nucleotide variant Pathogenic rs375088539 GRCh37 Chromosome 8, 145583960: 145583960
17 SLC52A2 NM_024531.4(SLC52A2): c.92G> C (p.Trp31Ser) single nucleotide variant Pathogenic rs797045199 GRCh37 Chromosome 8, 145583045: 145583045
18 SLC52A2 NM_024531.4(SLC52A2): c.92G> C (p.Trp31Ser) single nucleotide variant Pathogenic rs797045199 GRCh38 Chromosome 8, 144359385: 144359385
19 SLC52A2 NM_024531.4(SLC52A2): c.383C> T (p.Ser128Leu) single nucleotide variant Pathogenic rs374071862 GRCh38 Chromosome 8, 144359875: 144359875
20 SLC52A2 NM_024531.4(SLC52A2): c.383C> T (p.Ser128Leu) single nucleotide variant Pathogenic rs374071862 GRCh37 Chromosome 8, 145583535: 145583535
21 SLC52A2 NM_024531.4(SLC52A2): c.700C> T (p.Gln234Ter) single nucleotide variant Pathogenic rs797045200 GRCh37 Chromosome 8, 145583852: 145583852
22 SLC52A2 NM_024531.4(SLC52A2): c.700C> T (p.Gln234Ter) single nucleotide variant Pathogenic rs797045200 GRCh38 Chromosome 8, 144360192: 144360192
23 SLC52A2 NM_024531.4(SLC52A2): c.865C> T (p.Leu289=) single nucleotide variant Pathogenic rs797045201 GRCh37 Chromosome 8, 145584017: 145584017
24 SLC52A2 NM_024531.4(SLC52A2): c.865C> T (p.Leu289=) single nucleotide variant Pathogenic rs797045201 GRCh38 Chromosome 8, 144360357: 144360357
25 SLC52A2 NM_024531.4(SLC52A2): c.935T> C (p.Leu312Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs754320812 GRCh37 Chromosome 8, 145584087: 145584087
26 SLC52A2 NM_024531.4(SLC52A2): c.935T> C (p.Leu312Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs754320812 GRCh38 Chromosome 8, 144360427: 144360427
27 SLC52A2 NM_024531.4(SLC52A2): c.1088C> T (p.Pro363Leu) single nucleotide variant Uncertain significance rs797045202 GRCh37 Chromosome 8, 145584336: 145584336
28 SLC52A2 NM_024531.4(SLC52A2): c.1088C> T (p.Pro363Leu) single nucleotide variant Uncertain significance rs797045202 GRCh38 Chromosome 8, 144360676: 144360676
29 SLC52A2 NM_024531.4(SLC52A2): c.1258G> A (p.Ala420Thr) single nucleotide variant Pathogenic/Likely pathogenic rs368924997 GRCh37 Chromosome 8, 145584595: 145584595
30 SLC52A2 NM_024531.4(SLC52A2): c.1258G> A (p.Ala420Thr) single nucleotide variant Pathogenic/Likely pathogenic rs368924997 GRCh38 Chromosome 8, 144360935: 144360935
31 SLC52A2 NM_024531.4(SLC52A2): c.505C> T (p.Arg169Cys) single nucleotide variant Likely pathogenic rs782345472 GRCh37 Chromosome 8, 145583657: 145583657
32 SLC52A2 NM_024531.4(SLC52A2): c.505C> T (p.Arg169Cys) single nucleotide variant Likely pathogenic rs782345472 GRCh38 Chromosome 8, 144359997: 144359997
33 SLC52A2 NM_024531.4(SLC52A2): c.806A> G (p.Tyr269Cys) single nucleotide variant Uncertain significance rs372057075 GRCh37 Chromosome 8, 145583958: 145583958
34 SLC52A2 NM_024531.4(SLC52A2): c.806A> G (p.Tyr269Cys) single nucleotide variant Uncertain significance rs372057075 GRCh38 Chromosome 8, 144360298: 144360298
35 SLC52A2 NM_001253816.1(SLC52A2): c.555C> T (p.Leu185=) single nucleotide variant Benign rs74370046 GRCh37 Chromosome 8, 145583707: 145583707
36 SLC52A2 NM_001253816.1(SLC52A2): c.555C> T (p.Leu185=) single nucleotide variant Benign rs74370046 GRCh38 Chromosome 8, 144360047: 144360047
37 SLC52A2 NM_024531.4(SLC52A2): c.353C> A (p.Ala118Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs117500243 GRCh37 Chromosome 8, 145583505: 145583505
38 SLC52A2 NM_024531.4(SLC52A2): c.353C> A (p.Ala118Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs117500243 GRCh38 Chromosome 8, 144359845: 144359845
39 SLC52A2 NM_024531.4(SLC52A2): c.643C> T (p.Leu215=) single nucleotide variant Benign/Likely benign rs147954962 GRCh37 Chromosome 8, 145583795: 145583795
40 SLC52A2 NM_024531.4(SLC52A2): c.643C> T (p.Leu215=) single nucleotide variant Benign/Likely benign rs147954962 GRCh38 Chromosome 8, 144360135: 144360135
41 SLC52A2 NM_024531.4(SLC52A2): c.1122C> T (p.Leu374=) single nucleotide variant Likely benign rs144290224 GRCh37 Chromosome 8, 145584370: 145584370
42 SLC52A2 NM_024531.4(SLC52A2): c.1122C> T (p.Leu374=) single nucleotide variant Likely benign rs144290224 GRCh38 Chromosome 8, 144360710: 144360710
43 SLC52A2 NM_024531.4(SLC52A2): c.84T> C (p.Asn28=) single nucleotide variant Likely benign rs200102613 GRCh37 Chromosome 8, 145583037: 145583037
44 SLC52A2 NM_024531.4(SLC52A2): c.84T> C (p.Asn28=) single nucleotide variant Likely benign rs200102613 GRCh38 Chromosome 8, 144359377: 144359377
45 SLC52A2 NM_024531.4(SLC52A2): c.228C> T (p.Asp76=) single nucleotide variant Likely benign rs111588500 GRCh37 Chromosome 8, 145583380: 145583380
46 SLC52A2 NM_024531.4(SLC52A2): c.228C> T (p.Asp76=) single nucleotide variant Likely benign rs111588500 GRCh38 Chromosome 8, 144359720: 144359720
47 SLC52A2 NM_024531.4(SLC52A2): c.1089G> A (p.Pro363=) single nucleotide variant Benign rs146292053 GRCh37 Chromosome 8, 145584337: 145584337
48 SLC52A2 NM_024531.4(SLC52A2): c.1089G> A (p.Pro363=) single nucleotide variant Benign rs146292053 GRCh38 Chromosome 8, 144360677: 144360677
49 SLC52A2 NM_024531.4(SLC52A2): c.359T> C (p.Val120Ala) single nucleotide variant Benign/Likely benign rs74445699 GRCh37 Chromosome 8, 145583511: 145583511
50 SLC52A2 NM_024531.4(SLC52A2): c.359T> C (p.Val120Ala) single nucleotide variant Benign/Likely benign rs74445699 GRCh38 Chromosome 8, 144359851: 144359851

Expression for Brown-Vialetto-Van Laere Syndrome 2

Search GEO for disease gene expression data for Brown-Vialetto-Van Laere Syndrome 2.

Pathways for Brown-Vialetto-Van Laere Syndrome 2

GO Terms for Brown-Vialetto-Van Laere Syndrome 2

Sources for Brown-Vialetto-Van Laere Syndrome 2

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