KEGG DISEASE: Brown-Vialetto-Van Laere syndrome

DISEASE: Brown-Vialetto-Van Laere syndrome

Entry

H01903                      Disease

Name

Brown-Vialetto-Van Laere syndrome

Supergrp

Infantile progressive bulbar palsy [DS:H00841]
Riboflavin deficiency [DS:H02544]

Description

Brown-Vialetto-Van Laere Syndrome (BVVLS) is a rare neurological disorder characterized by bulbar palsies and sensorineural deafness. BVVLS is mainly associated with defective riboflavin transporters encoded by the SLC52A2 and SLC52A3 genes. It has been suggested that riboflavin supplementation can ameliorate the progression of this neurodegenerative condition.

Category

Neurodegenerative disease

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD2H  Syndromic genetic deafness
    H01903  Brown-Vialetto-Van Laere syndrome

Pathway

hsa04977

Vitamin digestion and absorption

Gene

(BVVLS1) SLC52A3 [HSA:113278] [KO:K14620]
(BVVLS2) SLC52A2 [HSA:79581] [KO:K22117]

Comment

See also H00841 Infantile progressive bulbar palsy.

Other DBs

ICD-11:

LD2H.Y

ICD-10:

G12.1

OMIM:

211530 614707

Reference

PMID:27702554

Authors

Udhayabanu T, Subramanian VS, Teafatiller T, Gowda VK, Raghavan VS, Varalakshmi P, Said HM, Ashokkumar B

Title

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.

Journal

Clin Chim Acta 462:210-214 (2016)
DOI:10.1016/j.cca.2016.09.022

Reference

PMID:22864630

Authors

Haack TB, Makowski C, Yao Y, Graf E, Hempel M, Wieland T, Tauer U, Ahting U, Mayr JA, Freisinger P, Yoshimatsu H, Inui K, Strom TM, Meitinger T, Yonezawa A, Prokisch H

Title

Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome.

Journal

J Inherit Metab Dis 35:943-8 (2012)
DOI:10.1007/s10545-012-9513-y

Reference

PMID:24253200

Authors

Foley AR, Menezes MP, Pandraud A, Gonzalez MA, Al-Odaib A, Abrams AJ, Sugano K, Yonezawa A, Manzur AY, Burns J, Hughes I, McCullagh BG, Jungbluth H, Lim MJ, Lin JP, Megarbane A, Urtizberea JA, Shah AH, Antony J, Webster R, Broomfield A, Ng J, Mathew AA, O'Byrne JJ, Forman E, Scoto M, Prasad M, O'Brien K, Olpin S, Oppenheim M, Hargreaves I, Land JM, Wang MX, Carpenter K, Horvath R, Straub V, Lek M, Gold W, Farrell MO, Brandner S, Phadke R, Matsubara K, McGarvey ML, Scherer SS, Baxter PS, King MD, Clayton P, Rahman S, Reilly MM, Ouvrier RA, Christodoulou J, Zuchner S, Muntoni F, Houlden H

Title

Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2.

Journal

Brain 137:44-56 (2014)
DOI:10.1093/brain/awt315

» Japanese version

All links

Disease (2)   
   OMIM (2)   
Gene (4)   
   KEGG ORTHOLOGY (2)   
   KEGG GENES (2)   
Literature (3)   
   PubMed (3)   
All databases (9)   

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