MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO
Disease Browser
Parent Node:
expandmitochondrial disease with eye involvement (MONDO:0020265)
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expandmitochondrial disease with peripheral neuropathy (MONDO:0016403)
Parent Node:
expandmitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies (MONDO:0016578)
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expandsupranuclear oculomotor palsy (MONDO:0020257)
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expandsyndrome with a symptomatic strabismus (MONDO:0020253)
Parent Node:
expandunclassified primitive or secondary maculopathy (MONDO:0020244)
..Starting node
..expandLeigh disease ()

       Child Nodes:
........expandcongenital lactic acidosis, Saguenay-Lac-Saint-Jean type ()  LSDB  L: 00389;
........expandLeigh syndrome ()  LSDB  L: 00015;
........expandLeigh syndrome with nephrotic syndrome ()
........expandnecrotizing encephalomyelopathy, subacute, of Leigh, adult ()  LSDB  L: 00433;



 Sister Nodes: 
..expandautosomal dominant osteopetrosis 2 ()
..expandBardet-Biedl syndrome ()
..expandcone-rod dystrophy ()
..expandcongenital hypotrichosis with juvenile macular dystrophy ()
..expandcystoid macular edema ()
..expandenhanced S-cone syndrome ()
..expandFarber lipogranulomatosis ()
..expandfoveal hypoplasia-presenile cataract syndrome ()
..expandgalactosialidosis ()
..expandGM1 gangliosidosis ()
..expandHermansky-Pudlak syndrome 2 ()
..expandinfantile Refsum disease ()
..expandKrabbe disease ()
..expandLaurence-Moon syndrome ()
..expandLeigh disease ()
..expandmetachromatic leukodystrophy ()
..expandmucolipidosis type IV ()
..expandneuronal ceroid lipofuscinosis ()
..expandNiemann-Pick disease type C ()
..expandRubinstein-Taybi syndrome ()
..expandSjogren-Larsson syndrome ()
..expandSorsby's fundus dystrophy ()
..expandX-linked retinoschisis ()
..expandZellweger syndrome ()
   

MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:18859
Name:Leigh disease
Definition:Leigh syndrome or subacute necrotizing encephalomyelopathy is a progressive neurological disease defined by specific neuropathological features associating brainstem and basal ganglia lesions.
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Synonyms:infantile necrotizing encephalomyelopathy; infantile subacute necrotizing encephalopathy; juvenile subacute necrotizing encephalomyelopathy; Leigh disease; Leigh syndrome; Leigh's disease; Leigh's necrotizing encephalopathy; necrotizing encephalopathy infantile subacute of Leigh; SNE; subacute necro
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Reference: MedGen:
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MSeqDR LSDB:  
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Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal