BVVLS1
MCID: BRW009
MIFTS: 40

Brown-Vialetto-Van Laere Syndrome 1 (BVVLS1)

Categories: Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases, Respiratory 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 12 72 29 13 6
Pontobulbar Palsy with Deafness 57 72
Bvvls1 57 72
Bulbar Palsy, Progressive, with Sensorineural Deafness 57
Bulbar Palsy Progressive with Sensorineural Deafness 72
Rfvt2-Related Riboflavin Transporter Deficiency 58
Brown-Vialetto-Van Laere Syndrome, Type 1 39
Riboflavin Transporter Deficiency Type 2 6
Riboflavin Transporter Deficiency 2 58
Brown-Vialetto-Van Laere Syndrome 70
Rtd2 58

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
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:
Inheritance autosomal recessive inheritance
Onset and clinical course juvenile onset progressive


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Rare otorhinolaryngological diseases
Developmental anomalies during embryogenesis


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) (Updated 20-May-2021)

MalaCards based summary : Brown-Vialetto-Van Laere Syndrome 1, also known as pontobulbar palsy with deafness, is related to brown-vialetto-van laere syndrome and fazio-londe disease, 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), and among its related pathways/superpathways is Metabolism of water-soluble vitamins and cofactors. Affiliated tissues include eye, tongue and cerebellum, and related phenotypes are ataxia and scoliosis

Disease Ontology : 12 A Brown-Vialetto-Van Laere syndrome that is characterized by progressive bulbar palsy with sensorineural deafness that has material basis in homozygous or compound heterozygous mutation in the C20ORF54 gene (SLC52A3) on chromosome 20p13.

UniProtKB/Swiss-Prot : 72 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

Graphical network of the top 20 diseases related to Brown-Vialetto-Van Laere Syndrome 1:



Diseases related to Brown-Vialetto-Van Laere Syndrome 1

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

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

31 (show all 30)
# Description HPO Frequency HPO Source Accession
1 ataxia 31 occasional (7.5%) HP:0001251
2 scoliosis 31 HP:0002650
3 ptosis 31 HP:0000508
4 dysphagia 31 HP:0002015
5 kyphosis 31 HP:0002808
6 facial palsy 31 HP:0010628
7 respiratory insufficiency 31 HP:0002093
8 recurrent respiratory infections 31 HP:0002205
9 sensorineural hearing impairment 31 HP:0000407
10 vocal cord paralysis 31 HP:0001605
11 peripheral neuropathy 31 HP:0009830
12 weak voice 31 HP:0001621
13 abnormal cerebellum morphology 31 HP:0001317
14 external ophthalmoplegia 31 HP:0000544
15 clumsiness 31 HP:0002312
16 respiratory distress 31 HP:0002098
17 stridor 31 HP:0010307
18 proximal muscle weakness 31 HP:0003701
19 diaphragmatic weakness 31 HP:0009113
20 ankle clonus 31 HP:0011448
21 bulbar palsy 31 HP:0001283
22 neck muscle weakness 31 HP:0000467
23 myopathic facies 31 HP:0002058
24 hand muscle atrophy 31 HP:0009130
25 tongue fasciculations 31 HP:0001308
26 tongue atrophy 31 HP:0012473
27 nocturnal hypoventilation 31 HP:0002877
28 hypotonia 31 HP:0001252
29 cranial nerve motor loss 31 HP:0007097
30 knee clonus 31 HP:0011449

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
hyperreflexia
fasciculations
clumsiness
ankle clonus
bulbar palsy
more
Head And Neck Eyes:
ptosis
external ophthalmoplegia

Respiratory Larynx:
vocal cord paralysis

Chest Diaphragm:
diaphragmatic weakness

Head And Neck Face:
myopathic facies
facial 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

Skeletal Spine:
scoliosis
kyphosis

Abdomen Gastrointestinal:
dysphagia

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

Head And Neck Neck:
neck muscle weakness

Skeletal Hands:
hand muscle atrophy

Head And Neck Ears:
sensorineural hearing loss

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

Clinical features from OMIM®:

211530 (Updated 20-May-2021)

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


dyspnea; clumsiness; stridor; muscular fasciculation; 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:

# 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:

40
Eye, Tongue, Cerebellum

Publications for Brown-Vialetto-Van Laere Syndrome 1

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

(show all 27)
# Title Authors PMID Year
1
Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment. 57 6
21110228 2011
2
Exome sequencing in Brown-Vialetto-van Laere syndrome. 57 6
20920669 2010
3
Brown-Vialetto-Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused by mutations in c20orf54. 57 6
20206331 2010
4
Brown-Vialetto-Van Laere syndrome; variability in age at onset and disease progression highlighting the phenotypic overlap with Fazio-Londe disease. 6 57
16122634 2005
5
Brown-Vialetto-Van Laere syndrome in a large inbred Lebanese family: confirmation of autosomal recessive inheritance? 6 61
10797435 2000
6
Oral therapy for riboflavin transporter deficiency - What is the regimen of choice? 6
30343981 2019
7
Clinical, pathological and functional characterization of riboflavin-responsive neuropathy. 6
29053833 2017
8
Genes for spinocerebellar ataxia with blindness and deafness (SCABD/SCAR3, MIM# 271250 and SCABD2). 6
26669662 2016
9
Exome sequencing results in successful riboflavin treatment of a rapidly progressive neurological condition. 6
27148561 2015
10
Large-scale whole-genome sequencing of the Icelandic population. 6
25807286 2015
11
Identification of residues/sequences in the human riboflavin transporter-2 that is important for function and cell biology. 6
25798182 2015
12
Mutations in riboflavin transporter present with severe sensory loss and deafness in childhood. 6
24616084 2014
13
Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia. 6
25133958 2014
14
Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2. 6
24253200 2014
15
Brown-Vialetto-Van Laere syndrome: clinical and neuropathologic findings with immunohistochemistry for C20orf54 in three affected patients. 6
23688382 2013
16
Riboflavin transporter 3 involvement in infantile Brown-Vialetto-Van Laere disease: two novel mutations. 6
23243084 2013
17
Brown-Vialetto-van Laere and Fazio-Londe overlap syndromes: a clinical, biochemical and genetic study. 6
22824638 2012
18
Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome. 6
22864630 2012
19
Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease. 6
22740598 2012
20
Four novel C20orf54 mutations identified in Brown-Vialetto-Van Laere syndrome patients. 6
22718020 2012
21
Brown-Vialetto-Van Laere syndrome: a riboflavin-unresponsive patient with a novel mutation in the C20orf54 gene. 6
22633641 2012
22
Pontobulbar palsy and neurosensory deafness (Brown-Vialetto-Van Laere syndrome) with possible autosomal dominant inheritance. 57
2325091 1990
23
Ponto-bulbar palsy with deafness (Brown-Vialetto-Van Laere syndrome). 57
7229669 1981
24
[Familial case of chronic progressive bulbo-pontine paralysis with deafness]. 57
5563586 1971
25
[Familial progressive chronic bulbo-pontine paralysis with deafness. A case of Klippel-Trenaunay syndrome in siblings of the same family. Diagnostic and genetic problems]. 57
5969547 1966
26
Brown-Vialetto-Van Laere syndrome: a rare syndrome in otology. 61
15992475 2005
27
Progressive pontobulbar palsy with deafness: clinical and pathological study of two cases. 61
6970563 1981

Variations for Brown-Vialetto-Van Laere Syndrome 1

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

6 (show top 50) (show all 361)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SLC52A2 NM_001363118.2(SLC52A2):c.368T>C (p.Leu123Pro) SNV Pathogenic 39576 rs397514538 GRCh37: 8:145583520-145583520
GRCh38: 8:144359860-144359860
2 SLC52A2 NM_001363118.2(SLC52A2):c.1255G>A (p.Gly419Ser) SNV Pathogenic 40232 rs397514658 GRCh37: 8:145584592-145584592
GRCh38: 8:144360932-144360932
3 SLC52A2 NM_001363118.2(SLC52A2):c.851C>A (p.Ala284Asp) SNV Pathogenic 96702 rs398123067 GRCh37: 8:145584003-145584003
GRCh38: 8:144360343-144360343
4 SLC52A2 NM_001363118.2(SLC52A2):c.914A>G (p.Tyr305Cys) SNV Pathogenic 96703 rs398123068 GRCh37: 8:145584066-145584066
GRCh38: 8:144360406-144360406
5 SLC52A3 NM_033409.3:c.1128-1129_insT Insertion Pathogenic 210034 GRCh37:
GRCh38:
6 SLC52A2 NM_001363118.2(SLC52A2):c.92G>C (p.Trp31Ser) SNV Pathogenic 210037 rs797045199 GRCh37: 8:145583045-145583045
GRCh38: 8:144359385-144359385
7 SLC52A2 NM_001363118.2(SLC52A2):c.700C>T (p.Gln234Ter) SNV Pathogenic 210039 rs797045200 GRCh37: 8:145583852-145583852
GRCh38: 8:144360192-144360192
8 SLC52A2 NM_001363118.2(SLC52A2):c.865C>T (p.Leu289=) SNV Pathogenic 210040 rs797045201 GRCh37: 8:145584017-145584017
GRCh38: 8:144360357-144360357
9 SLC52A2 NM_001363118.2(SLC52A2):c.551del (p.Pro184fs) Deletion Pathogenic 473205 rs1554854044 GRCh37: 8:145583698-145583698
GRCh38: 8:144360038-144360038
10 SLC52A2 NM_001363118.2(SLC52A2):c.116_130+83del Deletion Pathogenic 576124 rs1564653965 GRCh37: 8:145583037-145583134
GRCh38: 8:144359377-144359474
11 SLC52A3 NC_000020.11:g.(?_761006)_(765794_?)del Deletion Pathogenic 640455 GRCh37: 20:741650-746438
GRCh38: 20:761006-765794
12 SLC52A2 NM_001363118.2(SLC52A2):c.751C>T (p.Gln251Ter) SNV Pathogenic 660959 rs1312209529 GRCh37: 8:145583903-145583903
GRCh38: 8:144360243-144360243
13 SLC52A2 NM_001363118.2(SLC52A2):c.402CTT[1] (p.Phe135del) Microsatellite Pathogenic 929820 GRCh37: 8:145583554-145583556
GRCh38: 8:144359894-144359896
14 SLC52A3 NM_033409.4(SLC52A3):c.211G>T (p.Glu71Ter) SNV Pathogenic 140 rs267606683 GRCh37: 20:746208-746208
GRCh38: 20:765564-765564
15 SLC52A3 NM_033409.4(SLC52A3):c.670T>C (p.Phe224Leu) SNV Pathogenic 142 rs267606685 GRCh37: 20:744545-744545
GRCh38: 20:763901-763901
16 SLC52A3 NM_033409.4(SLC52A3):c.82C>A (p.Pro28Thr) SNV Pathogenic 145 rs267606688 GRCh37: 20:746337-746337
GRCh38: 20:765693-765693
17 SLC52A3 NM_033409.4(SLC52A3):c.49T>C (p.Trp17Arg) SNV Pathogenic 210011 rs797045190 GRCh37: 20:746370-746370
GRCh38: 20:765726-765726
18 SLC52A3 NM_033409.4(SLC52A3):c.160G>A (p.Gly54Arg) SNV Pathogenic 210013 rs797045191 GRCh37: 20:746259-746259
GRCh38: 20:765615-765615
19 SLC52A3 NM_033409.4(SLC52A3):c.173T>A (p.Val58Asp) SNV Pathogenic 210014 rs797045192 GRCh37: 20:746246-746246
GRCh38: 20:765602-765602
20 SLC52A3 NM_033409.4(SLC52A3):c.211G>A (p.Glu71Lys) SNV Pathogenic 210015 rs267606683 GRCh37: 20:746208-746208
GRCh38: 20:765564-765564
21 SLC52A3 NM_033409.4(SLC52A3):c.224T>C (p.Ile75Thr) SNV Pathogenic 210016 rs797045193 GRCh37: 20:746195-746195
GRCh38: 20:765551-765551
22 SLC52A3 NM_033409.4(SLC52A3):c.639C>G (p.Tyr213Ter) SNV Pathogenic 210018 rs778363575 GRCh37: 20:744576-744576
GRCh38: 20:763932-763932
23 SLC52A3 NM_033409.4(SLC52A3):c.659C>A (p.Pro220His) SNV Pathogenic 210019 rs797045194 GRCh37: 20:744556-744556
GRCh38: 20:763912-763912
24 SLC52A2 NC_000008.11:g.(?_144358571)_(144361296_?)del Deletion Pathogenic 830619 GRCh37: 8:145582231-145584956
GRCh38:
25 SLC52A3 NM_033409.4(SLC52A3):c.955C>T (p.Pro319Ser) SNV Pathogenic 210022 rs797045195 GRCh37: 20:744260-744260
GRCh38: 20:763616-763616
26 SLC52A3 NM_033409.4(SLC52A3):c.989G>T (p.Gly330Val) SNV Pathogenic 210023 rs797045196 GRCh37: 20:744226-744226
GRCh38: 20:763582-763582
27 SLC52A3 NM_033409.4(SLC52A3):c.634C>T (p.Arg212Cys) SNV Pathogenic 210032 rs778479139 GRCh37: 20:744581-744581
GRCh38: 20:763937-763937
28 SLC52A3 NM_033409.4(SLC52A3):c.671T>G (p.Phe224Cys) SNV Pathogenic 210033 rs797045197 GRCh37: 20:744544-744544
GRCh38: 20:763900-763900
29 SLC52A3 NM_033409.4(SLC52A3):c.1255G>A (p.Val419Met) SNV Pathogenic 210035 rs797045198 GRCh37: 20:741825-741825
GRCh38: 20:761181-761181
30 SLC52A3 NM_033409.4(SLC52A3):c.1293G>A (p.Trp431Ter) SNV Pathogenic 210036 rs1060499531 GRCh37: 20:741787-741787
GRCh38: 20:761143-761143
31 SLC52A3 NM_033409.4(SLC52A3):c.1296C>A (p.Cys432Ter) SNV Pathogenic 210027 rs758570021 GRCh37: 20:741784-741784
GRCh38: 20:761140-761140
32 SLC52A3 NM_033409.4(SLC52A3):c.374C>A (p.Thr125Asn) SNV Pathogenic 210030 rs767263985 GRCh37: 20:746045-746045
GRCh38: 20:765401-765401
33 SLC52A2 NM_001363118.2(SLC52A2):c.916G>A (p.Gly306Arg) SNV Pathogenic 35470 rs398124641 GRCh37: 8:145584068-145584068
GRCh38: 8:144360408-144360408
34 SLC52A2 NM_001363118.2(SLC52A2):c.1016T>C (p.Leu339Pro) SNV Pathogenic 39577 rs148234606 GRCh37: 8:145584264-145584264
GRCh38: 8:144360604-144360604
35 SLC52A2 NM_001363118.2(SLC52A2):c.155C>T (p.Ser52Phe) SNV Pathogenic 40231 rs397514657 GRCh37: 8:145583307-145583307
GRCh38: 8:144359647-144359647
36 SLC52A2 NM_001363118.2(SLC52A2):c.808C>T (p.Gln270Ter) SNV Pathogenic 188051 rs375088539 GRCh37: 8:145583960-145583960
GRCh38: 8:144360300-144360300
37 SLC52A2 NM_001363118.2(SLC52A2):c.149dup (p.Tyr50Ter) Duplication Pathogenic 419108 rs782095095 GRCh37: 8:145583300-145583301
GRCh38: 8:144359640-144359641
38 SLC52A3 NM_033409.4(SLC52A3):c.568-16_568-15insCTGATTGAC Insertion Pathogenic 262235 rs3833341 GRCh37: 20:744662-744663
GRCh38: 20:764018-764019
39 SLC52A3 NM_033409.4(SLC52A3):c.1198-2A>C SNV Pathogenic 210025 rs754753126 GRCh37: 20:741884-741884
GRCh38: 20:761240-761240
40 SLC52A3 NM_033409.4(SLC52A3):c.1325_1326del (p.Leu442fs) Deletion Pathogenic 139 rs794728004 GRCh37: 20:741754-741755
GRCh38: 20:761110-761111
41 SLC52A3 NM_033409.4(SLC52A3):c.753del (p.Val252fs) Deletion Pathogenic/Likely pathogenic 623230 rs1568721373 GRCh37: 20:744462-744462
GRCh38: 20:763818-763818
42 SLC52A3 NM_033409.4(SLC52A3):c.1316G>A (p.Gly439Asp) SNV Likely pathogenic 488380 rs1555783467 GRCh37: 20:741764-741764
GRCh38: 20:761120-761120
43 SLC52A2 NM_001363118.2(SLC52A2):c.131-1G>C SNV Likely pathogenic 580165 rs782305211 GRCh37: 8:145583282-145583282
GRCh38: 8:144359622-144359622
44 SLC52A2 NM_001363118.2(SLC52A2):c.968T>C (p.Leu323Pro) SNV Likely pathogenic 979035 GRCh37: 8:145584120-145584120
GRCh38: 8:144360460-144360460
45 SLC52A2 NM_001363118.2(SLC52A2):c.935T>C (p.Leu312Pro) SNV Likely pathogenic 210041 rs754320812 GRCh37: 8:145584087-145584087
GRCh38: 8:144360427-144360427
46 SLC52A2 NM_001363118.2(SLC52A2):c.505C>T (p.Arg169Cys) SNV Conflicting interpretations of pathogenicity 212207 rs782345472 GRCh37: 8:145583657-145583657
GRCh38: 8:144359997-144359997
47 SLC52A2 NM_001363118.2(SLC52A2):c.383C>T (p.Ser128Leu) SNV Conflicting interpretations of pathogenicity 210038 rs374071862 GRCh37: 8:145583535-145583535
GRCh38: 8:144359875-144359875
48 SLC52A2 NM_001363118.2(SLC52A2):c.1088C>T (p.Pro363Leu) SNV Conflicting interpretations of pathogenicity 210042 rs797045202 GRCh37: 8:145584336-145584336
GRCh38: 8:144360676-144360676
49 SLC52A2 NM_001363118.2(SLC52A2):c.-110-1G>A SNV Uncertain significance 549670 rs1554853682 GRCh37: 8:145582843-145582843
GRCh38: 8:144359183-144359183
50 SLC52A2 NM_001363118.2(SLC52A2):c.424C>T (p.Arg142Cys) SNV Uncertain significance 569976 rs1016614259 GRCh37: 8:145583576-145583576
GRCh38: 8:144359916-144359916

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

72
# 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

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

Biological processes related to Brown-Vialetto-Van Laere Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 riboflavin metabolic process GO:0006771 8.96 SLC52A3 SLC52A2
2 riboflavin transport GO:0032218 8.62 SLC52A3 SLC52A2

Molecular functions related to Brown-Vialetto-Van Laere Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 riboflavin transmembrane transporter activity GO:0032217 8.62 SLC52A3 SLC52A2

Sources for Brown-Vialetto-Van Laere Syndrome 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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