| H00820 | |
| H number | H00820 |
| Name | Bjornstad syndrome |
| Description | Bjornstad syndrome is an autosomal recessive combination of congenital sensorineural hearing loss and pili torti. It is caused by mutations in BCS1L encoding a protein that is necessary for the assembly of complex III in the mitochondria. |
| Category | Inherited metabolic disorder |
| Network | - |
| Gene | BCS1L [HSA:617] [KO:K08900] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: EC21.1 MeSH: C537633 OMIM: 262000 |
| Reference | PMID:10694305 AUTHORS Selvaag E TITLE Pili torti and sensorineural hearing loss. A follow-up of Bjornstad's original patients and a review of the literature. JOURNAL Eur J Dermatol 10:91-7 (2000) PMID:11807445 AUTHORS Richards KA, Mancini AJ TITLE Three members of a family with pili torti and sensorineural hearing loss: the Bjornstad syndrome. JOURNAL J Am Acad Dermatol 46:301-3 (2002) DOI:10.1067/mjd.2002.107969 PMID:9545407 AUTHORS Lubianca Neto JF, Lu L, Eavey RD, Flores MA, Caldera RM, Sangwatanaroj S, Schott JJ, McDonough B, Santos JI, Seidman CE, Seidman JG TITLE The Bjornstad syndrome (sensorineural hearing loss and pili torti) disease gene maps to chromosome 2q34-36. JOURNAL Am J Hum Genet 62:1107-12 (1998) DOI:10.1086/301837 PMID:17314340 AUTHORS Hinson JT, Fantin VR, Schonberger J, Breivik N, Siem G, McDonough B, Sharma P, Keogh I, Godinho R, Santos F, Esparza A, Nicolau Y, Selvaag E, Cohen BH, Hoppel CL, Tranebjaerg L, Eavey RD, Seidman JG, Seidman CE TITLE Missense mutations in the BCS1L gene as a cause of the Bjornstad syndrome. JOURNAL N Engl J Med 356:809-19 (2007) DOI:10.1056/NEJMoa055262 |