KEGG   DISEASE: Mohr-Tranebjaerg syndrome
Entry
H00989                      Disease                                

Name
Mohr-Tranebjaerg syndrome
  Supergrp
Mitochondrial disease [DS:H01427]
Description
Mohr-Tranebjaerg syndrome is an X-linked recessive condition characterized by progressive postlingual sensorineural hearing impairment that begin in childhood associated by dystonia and optic atrophy. Mohr-Tranebjaerg syndrome is caused by mutations in the TIMM8A, a translocase of the inner mitochrondrial membrane whose dysfunction leads to mitochondrial-based neural degeneration.
Category
Nervous system disease; Congenital disorder of metabolism
Brite
Human diseases [BR:br08402]
 Nervous system diseases
  Other nervous and sensory system diseases
   H00989  Mohr-Tranebjaerg syndrome
 Congenital disorders of metabolism
  Mitochondrial diseases
   H00989  Mohr-Tranebjaerg syndrome
Human diseases in ICD-11 classification [BR:br08403]
 08 Diseases of the nervous system
  Movement disorders
   8A02  Dystonic disorders
    H00989  Mohr-Tranebjaerg syndrome
Gene
TIMM8A [HSA:1678] [KO:K17780]
Comment
Mitochondrial disease
Other DBs
ICD-11: 8A02.12
MeSH: C535808
OMIM: 304700
Reference
  Authors
Aguirre LA, Perez-Bas M, Villamar M, Lopez-Ariztegui MA, Moreno-Pelayo MA, Moreno F, del Castillo I
  Title
A Spanish sporadic case of deafness-dystonia (Mohr-Tranebjaerg) syndrome with a novel mutation in the gene encoding TIMM8a, a component of the mitochondrial protein translocase complexes.
  Journal
Neuromuscul Disord 18:979-81 (2008)
DOI:10.1016/j.nmd.2008.09.009
Reference
  Authors
Merchant SN, McKenna MJ, Nadol JB Jr, Kristiansen AG, Tropitzsch A, Lindal S, Tranebjaeizrg L
  Title
Temporal bone histopathologic and genetic studies in Mohr-Tranebjaerg syndrome (DFN-1).
  Journal
Otol Neurotol 22:506-11 (2001)
DOI:10.1097/00129492-200107000-00017
Reference
  Authors
Bahmad F Jr, Merchant SN, Nadol JB Jr, Tranebjaerg L
  Title
Otopathology in Mohr-Tranebjaerg syndrome.
  Journal
Laryngoscope 117:1202-8 (2007)
DOI:10.1097/MLG.0b013e3180581944
Reference
  Authors
Cacace AT, Pinheiro JM
  Title
The mitochondrial connection in auditory neuropathy.
  Journal
Audiol Neurootol 16:398-413 (2011)
DOI:10.1159/000323276

» Japanese version

DBGET integrated database retrieval system