MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO
Disease Browser
Parent Node:
expandMitochondrial Diseases (D028361)
Parent Node:
expandOptic Atrophies, Hereditary (D015418)
..Starting node
..expandOptic Atrophy, Hereditary, Leber (D029242)

       Child Nodes:
........expandMarsden syndrome (C536024)



 Sister Nodes: 
..expandBerk-Tabatznik syndrome (C535432)
..expandFriedreich Ataxia, So-Called, with Optic Atrophy and Sensorineural Deafness (C564999)
..expandGrowth retardation, Alopecia, Pseudoanodontia and Optic atrophy (C535642)
..expandHagemoser Weinstein Bresnick syndrome (C537626)
..expandKonigsmark Knox Hussels syndrome (C537214)
..expandMetaphyseal Dysplasia, Anetoderma, and Optic Atrophy (C565395)
..expandNecrotizing Encephalomyelopathy, Subacute, of Leigh, Adult (C563530)  LSDB  L: 00433;
..expandOptic atrophy 1 and deafness (C537124)
..expandOptic Atrophy 4 (C565343)
..expandOptic atrophy 5 (C537126)
..expandOptic atrophy 6 (C537127)
..expandOptic Atrophy 7 (C567833)
..expandOptic atrophy and cataract, autosomal dominant (C537128)
..expandOptic atrophy polyneuropathy deafness (C537129)
..expandOptic Atrophy Spastic Paraplegia Syndrome (C564084)
..expandOptic Atrophy with Demyelinating Disease of CNS (C563496)
..expandOptic Atrophy with Negative Electroretinograms (C563494)
..expandOptic Atrophy, Autosomal Dominant (D029241)  LSDB  L: 00073;
..expandOptic Atrophy, Deafness, Ophthalmoplegia, and Myopathy (C565117)
..expandOptic Atrophy, Hereditary, Leber (D029242) Child1  LSDB  L: 00072; 00492;
..expandSenior Loken Syndrome (C537580)
..expandSenior-Loken Syndrome 3 (C564637)
..expandSenior-Loken Syndrome 5 (C563763)
..expandSenior-Loken Syndrome 6 (C565708)
..expandSpastic Paraplegia, Optic Atrophy, And Dementia (C566679)
..expandSpastic Paraplegia, Optic Atrophy, Microcephaly, And Xy Sex Reversal (C566409)
..expandWolfram Syndrome (D014929) Child1
..expandWolfram Syndrome, Mitochondrial Form (C564012)  LSDB  L: 00156;
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:8283
Name:Optic Atrophy, Hereditary, Leber
Definition:A maternally linked genetic disorder that presents in mid-life as acute or subacute central vision loss leading to central scotoma and blindness. The disease has been associated with missense mutations in the mtDNA, in genes for Complex I, III, and IV polypeptides, that can act autonomously or in association with each other to cause the disease. (from Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/Omim/, MIM#535000 (April 17, 2001))
Alternative IDs:OMIM:308905|OMIM:535000
ParentIDs:MESH:D015418|MESH:D028361
TreeNumbers:C10.292.700.225.500.400 |C10.574.500.662.400 |C11.270.564.400 |C11.640.451.451.400 |C16.320.290.564.400 |C16.320.400.630.400 |C18.452.660.670
Synonyms:Disease, Leber's |Diseases, Leber's |Hereditary Optic Neuroretinopathies |Hereditary Optic Neuroretinopathy |Leber Disease |Leber Hereditary Optic Atrophy |Leber Hereditary Optic Neuropathy |LEBER HEREDITARY OPTIC NEUROPATHY, MODIFIER OF |Leber Optic Atrophy |Leb
Slim Mappings:Eye disease|Genetic disease (inborn)|Metabolic disease|Nervous system disease
Reference: MedGen: D029242
MeSH: D029242
OMIM: 308905;
MSeqDR LSDB: 00072; 00492;  
Genes:
Phenotypes
1 HP:0001417X-linked inheritance
2 HP:0000648Optic atrophy
Disease Causing ClinVar Variants
MSeqDR Portal