MCID: RBF002
MIFTS: 15

Riboflavin Transporter Deficiency Neuronopathy

Categories: Ear diseases, Neuronal diseases

Aliases & Classifications for Riboflavin Transporter Deficiency Neuronopathy

MalaCards integrated aliases for Riboflavin Transporter Deficiency Neuronopathy:

Name: Riboflavin Transporter Deficiency Neuronopathy 23 24
Brown-Vialetto-Van Laere Syndrome 24 69
Fazio-Londe Syndrome 24 69
Progressive Bulbar Palsy with Sensorineural Deafness 24
Riboflavin Transporter Deficiency 24
Pontobulbar Palsy with Deafness 24
Fazio-Londe Disease 24
Bvvls 24

Classifications:



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Summaries for Riboflavin Transporter Deficiency Neuronopathy

Genetics Home Reference : 24 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 1, and has symptoms including facial paresis, clumsiness 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:

(show all 12)
# Related Disease Score Top Affiliating Genes
1 fazio-londe disease 12.8
2 brown-vialetto-van laere syndrome 1 10.3
3 brown-vialetto-van laere syndrome 10.3
4 giant axonal neuropathy 1, autosomal recessive 10.2
5 aging 10.2
6 branchiootic syndrome 1 10.2
7 motor neuron disease 10.2
8 axonal neuropathy 10.2
9 neuronitis 10.2
10 neuropathy 10.2
11 giant axonal neuropathy 10.2
12 riboflavin transporter deficiency 10.0

Graphical network of the top 20 diseases related to Riboflavin Transporter Deficiency Neuronopathy:



Diseases related to Riboflavin Transporter Deficiency Neuronopathy

Symptoms & Phenotypes for Riboflavin Transporter Deficiency Neuronopathy

UMLS symptoms related to Riboflavin Transporter Deficiency Neuronopathy:


facial paresis, clumsiness, stridor, muscular fasciculation, dyspnea

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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