Brown-Vialetto-Van Laere Syndrome 1

Preferred Label : Brown-Vialetto-Van Laere Syndrome 1;

NCIt synonyms : BVVLS1; Bulbar Palsy, Progressive, with Sensorineural Deafness;

NCIt definition : An autosomal recessive neurologic condition caused by mutation(s) in the SLC52A3 gene, encoding solute carrier family 52, riboflavin transporter, member 3. It is characterized by sensorineural hearing loss and varying cranial nerve palsies, usually affecting the motor components of the seventh and ninth to twelfth cranial nerves. Spinal motor nerves are often affected. Mutations in SLC52A3 may result in Faxio-Lone disease, which is a similar condition, but sensorineural deafness is not present.;

Details

Origin ID

C133724;

UMLS CUI

C0796274;

Currated CISMeF NLP mapping
- Brown-Vialetto-Van Laere syndrome [MeSH concept]
- Brown-Vialetto-Van Laere syndrome [DO Concept]
- Brown-Vialetto-Van laere syndrome [MeSH Supplementary Concept]
- Brown-vialetto-van laere syndrome 1 [OMIM Phenotype]
- Riboflavin transporter deficiency [ORDO Disease]
- riboflavin transporter deficiency [Disease (Nov.)]
Has associated anatomic sites
- Cranial Nerve [NCIt concept]
- Nervous System [NCIt concept]
See also inter- (CISMeF)
- Progressive bulbar palsy with sensorineural deafness (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Brown-Vialetto-Van Laere syndrome [MeSH concept]
- Brown-Vialetto-Van laere syndrome [MeSH Supplementary Concept]
- Brown-vialetto-van laere syndrome 1 [OMIM Phenotype]
- Riboflavin transporter deficiency [ORDO Disease]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Nerve Paralysis [NCIt concept]
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- SLC52A3 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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