Details of Disease | DrugMAP

General Information of Disease (ID: DISQDCAW)

Disease Name	Riboflavin transporter deficiency
Synonyms	progressive bulbar palsy with sensorineural deafness; BVVLS1; BVVLS; pontobulbar palsy and neurosensory deafness; Brown-Vialetto-Van Laere syndrome 1; disorder of riboflavin transmembrane transporter activity; riboflavin transmembrane transporter activity disease; sensorineural hearing loss-pontobulbar palsy syndrome; Fazio-Londe syndrome; Brown-Vialetto-van Laere syndrome
Definition	A progressive motor neuron disorder characterized by respiratory insufficiency, sensorineural deafness and progressive ponto-bulbar palsy.
Disease Hierarchy	DISWD40R: Disease DIS6XNI0: Hereditary motor neuron disease DISQDCAW: Riboflavin transporter deficiency
Disease Identifiers	MONDO ID MONDO_0008891 UMLS CUI C4551777 MedGen ID 1634394 Orphanet ID 97229 SNOMED CT ID 699866005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
SLC52A2	TT6TKEN	Strong	Genetic Variation	[1]
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References

1	A Chinese pedigree with Brown-Vialetto-Van Laere syndrome due to two novel mutations of SLC52A2 gene: clinical course and response to riboflavin.BMC Med Genet. 2019 May 7;20(1):76. doi: 10.1186/s12881-019-0811-1.