KEGG   DISEASE: Bjornstad syndrome
Entry
H00820                      Disease                                
Name
Bjornstad syndrome
  Supergrp
Mitochondrial disease [DS:H01427]
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
Brite
Human diseases in ICD-11 classification [BR:br08403]
 14 Diseases of the skin
  Genetic or developmental disorders affecting the skin
   EC21  Genetic defects of hair or hair growth
    H00820  Bjornstad syndrome
Gene
BCS1L [HSA:617] [KO:K08900]
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)
Reference
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
Reference
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
Reference
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
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