MCID: RBF002
MIFTS: 12

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 23 25
Brown-Vialetto-Van Laere Syndrome 25 69
Fazio-Londe Syndrome 25 69
Progressive Bulbar Palsy with Sensorineural Deafness 25
Riboflavin Transporter Deficiency 25
Pontobulbar Palsy with Deafness 25
Fazio-Londe Disease 25
Bvvls 25

Classifications:



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 brown-vialetto-van laere syndrome 2 and brown-vialetto-van laere syndrome 1, 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:

id Related Disease Score Top Affiliating Genes
1 brown-vialetto-van laere syndrome 2 12.8
2 brown-vialetto-van laere syndrome 1 12.8
3 fazio-londe disease 12.7
4 brown-vialetto-van laere syndrome 10.3
5 motor neuron disease 10.1
6 axonal neuropathy 10.1
7 neuronitis 10.1
8 neuropathy 10.1
9 giant axonal neuropathy 10.1
10 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:


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:

id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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