MCID: RBF002
MIFTS: 14

Riboflavin Transporter Deficiency Neuronopathy

Categories: Neuronal diseases, Ear diseases

Aliases & Classifications for Riboflavin Transporter Deficiency Neuronopathy

MalaCards integrated aliases for Riboflavin Transporter Deficiency Neuronopathy:

Name: Riboflavin Transporter Deficiency Neuronopathy 24 25
Brown-Vialetto-Van Laere Syndrome 25 73
Fazio-Londe Syndrome 25 73
Progressive Bulbar Palsy with Sensorineural Deafness 25
Riboflavin Transporter Deficiency 25
Pontobulbar Palsy with Deafness 25
Fazio-Londe Disease 25
Bvvls 25

Classifications:



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Summaries for Riboflavin Transporter Deficiency Neuronopathy

Genetics Home Reference : 25 Riboflavin transporter deficiency neuronopathy is a disorder that affects nerve cells (neurons). Affected individuals typically have hearing loss caused by nerve damage in the inner ear (sensorineural hearing loss) and signs of damage to other nerves.

MalaCards based summary : Riboflavin Transporter Deficiency Neuronopathy, also known as brown-vialetto-van laere syndrome, is related to fazio-londe disease and brown-vialetto-van laere syndrome, and has symptoms including dyspnea, muscular fasciculation and stridor.

GeneReviews: NBK299312

Related Diseases for Riboflavin Transporter Deficiency Neuronopathy

Diseases related to Riboflavin Transporter Deficiency Neuronopathy via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 fazio-londe disease 12.8
2 brown-vialetto-van laere syndrome 11.0
3 brown-vialetto-van laere syndrome 1 10.3
4 riboflavin transporter deficiency 10.1

Symptoms & Phenotypes for Riboflavin Transporter Deficiency Neuronopathy

UMLS symptoms related to Riboflavin Transporter Deficiency Neuronopathy:


dyspnea, muscular fasciculation, stridor, clumsiness, facial paresis

Drugs & Therapeutics for Riboflavin Transporter Deficiency Neuronopathy

Search Clinical Trials , NIH Clinical Center for Riboflavin Transporter Deficiency Neuronopathy

Genetic Tests for Riboflavin Transporter Deficiency Neuronopathy

Anatomical Context for Riboflavin Transporter Deficiency Neuronopathy

Publications for Riboflavin Transporter Deficiency Neuronopathy

Articles related to Riboflavin Transporter Deficiency Neuronopathy:

# Title Authors Year
1
Riboflavin Transporter Deficiency Neuronopathy ( 26072523 )
1993

Variations for Riboflavin Transporter Deficiency Neuronopathy

Expression for Riboflavin Transporter Deficiency Neuronopathy

Search GEO for disease gene expression data for Riboflavin Transporter Deficiency Neuronopathy.

Pathways for Riboflavin Transporter Deficiency Neuronopathy

GO Terms for Riboflavin Transporter Deficiency Neuronopathy

Sources for Riboflavin Transporter Deficiency Neuronopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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