loading...| Preferred Name |
Brown-Vialetto-Van Laere syndrome |
| Synonyms |
Bulbar Palsy, Progressive, With Sensorineural Deafness |
| ID |
http://purl.bioontology.org/ontology/MESH/C537111 |
| altLabel |
Bulbar Palsy, Progressive, With Sensorineural Deafness Progressive Bulbar Palsy with Sensorineural Deafness Pontobulbar Palsy With Deafness Pontobulbar palsy and neurosensory deafness |
| cui |
C0796274 |
| HM |
D010244 D006319 |
| Inverse of RB |
0 |
| Mapped to | |
| MDA |
20100825 |
| MeSH Frequency |
68 |
| MMR |
20150817 |
| notation |
C537111 |
| prefLabel |
Brown-Vialetto-Van Laere syndrome |
| SC |
3 |
| Scope Statement |
A rare autosomal recessive neurologic disorder characterized by sensorineural hearing loss and a variety of CRANIAL NERVE palsies. Spinal motor nerves and, less commonly, upper motor neurons are sometimes affected, resulting in a phenotype similar to AMYOTROPHIC LATERAL SCLEROSIS. Onset is typically in the second decade, but may be earlier or later. Hearing loss tends to precede the onset of neurologic signs. However, patients with very early onset may present with bulbar palsy and may not develop hearing loss until later. The symptoms, severity, and disease duration are variable. Mutations in the SLC52A3 gene have been identified. OMIM: 211530 |
| TERMUI |
T741488 T802311 T752078 T841051 T802312 |
| TH |
ORD (2010) OMIM (2013) GHR (2014) |
| tui |
T047 |