KEGG   DISEASE: Leber hereditary optic neuropathy and dystonia
Entry
H01365                      Disease                                
Name
Leber hereditary optic neuropathy and dystonia
  Supergrp
Optic atrophy [DS:H01020]
Mitochondrial disease [DS:H01427]
Description
Leber hereditary optic neuropathy and dystonia (LDYT) is a maternally-inherited mitochondrial disorder characterized by variable combinations of visual loss and progressive generalized dystonia. LDYT is a unique oxidative phosphorylation disorder caused by mutations in mitochondrial DNA.
Category
Inherited metabolic disorder
Brite
Human diseases in ICD-11 classification [BR:br08403]
 08 Diseases of the nervous system
  Diseases of neuromuscular junction or muscle
   Primary disorders of muscles
    8C73  Mitochondrial myopathies
     H01365  Leber hereditary optic neuropathy and dystonia
 09 Diseases of the visual system
  Disorders of the visual pathways or centres
   9C40  Disorder of the optic nerve
    H01365  Leber hereditary optic neuropathy and dystonia
Pathway
hsa00190  Oxidative phosphorylation
Gene
MT-ND6 [HSA:4541] [KO:K03884]
MT-ND4 [HSA:4538] [KO:K03881]
MT-ND1 [HSA:4535] [KO:K03878]
MT-ND3 [HSA:4537] [KO:K03880]
Other DBs
ICD-11: 8C73.Y 9C40.B0
ICD-10: H47.2
MeSH: D029242
OMIM: 500001
Reference
PMID:8016139
  Authors
Jun AS, Brown MD, Wallace DC
  Title
A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydrogenase subunit 6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystonia.
  Journal
Proc Natl Acad Sci U S A 91:6206-10 (1994)
DOI:10.1073/pnas.91.13.6206
Reference
PMID:19458970
  Authors
Wang K, Takahashi Y, Gao ZL, Wang GX, Chen XW, Goto J, Lou JN, Tsuji S
  Title
Mitochondrial ND3 as the novel causative gene for Leber hereditary optic neuropathy and dystonia.
  Journal
Neurogenetics 10:337-45 (2009)
DOI:10.1007/s10048-009-0194-0
Reference
PMID:17562939
  Authors
Spruijt L, Smeets HJ, Hendrickx A, Bettink-Remeijer MW, Maat-Kievit A, Schoonderwoerd KC, Sluiter W, de Coo IF, Hintzen RQ
  Title
A MELAS-associated ND1 mutation causing leber hereditary optic neuropathy and spastic dystonia.
  Journal
Arch Neurol 64:890-3 (2007)
DOI:10.1001/archneur.64.6.890
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