H00841 | |
H number | H00841 |
Name | Infantile progressive bulbar palsy |
Description | Infantile progressive bulbar palsy is a rare neurological disorder that occurs in children. Infantile progressive bulbar palsy presents as following two forms. The Brown-Vialetto-Van Laere syndrome (BVVLS) is characterized by progressive pontobulbar palsy associated with sensorineural deafness. The same clinical presentation without deafness is also known as Fazio Londe disease. Both are caused by mutation in the RFT2 gene. |
Category | Neurodegenerative disease |
Network | - |
Gene | RFT2 [HSA:113278] [KO:K14620] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | See also H01903 Brown-Vialetto-Van Laere syndrome. |
Other DBs | ICD-11: 8B60.Y ICD-10: G12.1 G12.2 OMIM: 211500 211530 |
Reference | PMID:12427524 AUTHORS Voudris KA, Skardoutsou A, Vagiakou EA TITLE Infantile progressive bulbar palsy with deafness. JOURNAL Brain Dev 24:732-5 (2002) DOI:10.1016/S0387-7604(02)00085-2 PMID:21110228 AUTHORS Bosch AM, Abeling NG, Ijlst L, Knoester H, van der Pol WL, Stroomer AE, Wanders RJ, Visser G, Wijburg FA, Duran M, Waterham HR TITLE Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment. JOURNAL J Inherit Metab Dis 34:159-64 (2011) DOI:10.1007/s10545-010-9242-z PMID:18416855 AUTHORS Sathasivam S TITLE Brown-Vialetto-Van Laere syndrome. JOURNAL Orphanet J Rare Dis 3:9 (2008) DOI:10.1186/1750-1172-3-9 PMID:16122634 AUTHORS Dipti S, Childs AM, Livingston JH, Aggarwal AK, Miller M, Williams C, Crow YJ TITLE Brown-Vialetto-Van Laere syndrome; variability in age at onset and disease progression highlighting the phenotypic overlap with Fazio-Londe disease. JOURNAL Brain Dev 27:443-6 (2005) DOI:10.1016/j.braindev.2004.10.003 |