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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/211530
http://purl.bioontology.org/ontology/OMIM/211530
|
|---|---|
| Preferred Name | BROWN-VIALETTO-VAN LAERE SYNDROME 1 |
| Synonyms |
BVVLS1
PONTOBULBAR PALSY WITH DEAFNESS
BULBAR PALSY, PROGRESSIVE, WITH SENSORINEURAL DEAFNESS
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
BVVLS1
PONTOBULBAR PALSY WITH DEAFNESS
BULBAR PALSY, PROGRESSIVE, WITH SENSORINEURAL DEAFNESS
|
|---|---|
| prefLabel | BROWN-VIALETTO-VAN LAERE SYNDROME 1
|
| Gene Symbol |
RFT2
C20orf54
BVVLS1
SLC52A3
|
| Scope Statement | Caused by mutation in the solute carrier family 52 (riboflavin transporter), member 3 gene (SLC52A3, 613350.0001) [MOLECULAR BASIS]
Variable age at onset, most often in second decade [MISCELLANEOUS]
Death usually due to respiratory failure [MISCELLANEOUS]
Earlier onset is associated with more rapid progression [MISCELLANEOUS]
Onset in infancy and third decade had been reported [MISCELLANEOUS]
Deafness tends to occur before other neurologic signs, except in patients with very early onset [MISCELLANEOUS]
Progressive disorder [MISCELLANEOUS]
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| type | |
| Has manifestation |
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| tui | T047
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| Gene Locus | 20p13
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| notation | 211530
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C0796274
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| OMIM Entry Type | 3
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| OMIM MimType Value | pound
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| Delete | Subject | Author | Type | Created |
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| No notes to display |