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Details
Link-It Detail - Disease - Leigh Disease
Debug Stats
  • ### Total Build Time: 200 ms 26.296 KB
  • CONCEPT_NAME gt=14 ms Completed: 14 ms rowSize= 324 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 844 bytes
  • Skipping details on: CONCEPT_SYNONYM gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • Skipping details on: CONCEPT_TEXT gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_SEMANTIC_TYPE gt=1 ms Completed: 1 ms rowSize= 188 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=6 ms Completed: 6 ms rowSize= 1.428 KB
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=7 ms Completed: 7 ms rowSize= 8.085 KB
  • CONCEPT_RELATIONSHIPS gt=164 ms Completed: 164 ms rowSize= 14.232 KB
  • CONCEPT_GENES gt=6 ms Completed: 6 ms rowSize= 45 bytes
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.147 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Leigh Disease C0023264
Definition (1)
A group of metabolic disorders primarily of infancy characterized by the subacute onset of psychomotor retardation, hypotonia, ataxia, weakness, vision loss, eye movement abnormalities, seizures, dysphagia, and lactic acidosis. Pathological features include spongy degeneration of the neuropile of the basal ganglia, thalamus, brain stem, and spinal cord. Patterns of inheritance include X-linked recessive, autosomal recessive, and mitochondrial. Leigh disease has been associated with mutations in genes for the PYRUVATE DEHYDROGENASE COMPLEX; CYTOCHROME-C OXIDASE; ATP synthase subunit 6; and subunits of mitochondrial complex I. (From Menkes, Textbook of Child Neurology, 5th ed, p850).
Semantic Types (1)
Disease or Syndrome (T047)
Parents (3)
img Mitochondrial Diseases C0751651
img Brain Diseases, Metabolic, Inborn C0752109
img Pyruvate Metabolism, Inborn Errors C0034350
Ancestral Roots
RootRoot Plus OneDepthParent
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255174img Mitochondrial Diseases C0751651
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501235img Brain Diseases, Metabolic, Inborn C0752109
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255175img Brain Diseases, Metabolic, Inborn C0752109
img Nervous System Diseases C0027765img Central Nervous System Diseases C00076826img Brain Diseases, Metabolic, Inborn C0752109
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501236img Pyruvate Metabolism, Inborn Errors C0034350
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255176img Pyruvate Metabolism, Inborn Errors C0034350
Relationships (78)

Relation Types:
diso_​to_​chem : 5
diso_​to_​diso : 69
diso_​to_​phen : 2
diso_​to_​phys : 2


Relationships:
none : 11
alias_​of : 1
manifestation_​of : 53
mapped_​to : 5
permuted_​term_​of : 1
related_​to : 4
used_​for : 3
Page Size
Current 25
  Page 1 of 4
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN87img genetic aspects C0017399
DISO_to_PHEN70img genetic aspects C0017399
DISO_to_PHYS35img Mutation C0026882
DISO_to_CHEM31img DNA, Mitochondrial C0012929
DISO_to_PHYS24img Mutation C0026882
DISO_to_CHEM23img Electron Transport Complex I C2363240
DISO_to_CHEM21img DNA, Mitochondrial C0012929
DISO_to_CHEM19img Mitochondrial Protein C0949610
DISO_to_DISO17img Complication Aspects C1171258
DISO_to_CHEM16img Proteins C0033684
DISO_to_DISO14img Cytochrome-c Oxidase Deficiency C0268237
DISO_to_DISOused_forimg ACIDOSIS LACTIC C0001125
DISO_to_DISOmanifestation_ofimg Acidosis, Lactic C0001125
DISO_to_DISOmanifestation_ofimg Ataxia C0004134
DISO_to_DISOmanifestation_ofimg Brainstem abnormalities C1850601
DISO_to_DISOmapped_toimg COX DEFICIENCY, FRENCH CANADIAN TYPE C1857355
DISO_to_DISOmanifestation_ofimg Caused by mutation in the ATP synthase 6 gene (MTATP6, 516060.0001) C1850602
DISO_to_DISOmanifestation_ofimg Caused by mutation in the C20ORF7 gene (C20ORF7, 612360.0002) C3151566
DISO_to_DISOmanifestation_ofimg Caused by mutation in the C8ORF38 gene (C8ORF38, 612392.0001) C2673317
DISO_to_DISOmanifestation_ofimg Caused by mutation in the FAD-dependent oxidoreductase domain-containing protein 1 gene (FOXRED1, 613622.0001) C3278555
DISO_to_DISOmanifestation_ofimg Caused by mutation in the NADH dehydrogenase (ubiquinone) Fe-S protein 1 gene (NDUFS1, 157655.0001) C1850612
DISO_to_DISOmanifestation_ofimg Caused by mutation in the NADH dehydrogenase (ubiquinone) Fe-S protein 3 gene (NDUFV3, 603846.0001) C1850611
DISO_to_DISOmanifestation_ofimg Caused by mutation in the NADH dehydrogenase (ubiquinone) Fe-S protein 4 gene (NDUFS4, 602694.0004) C1850613
DISO_to_DISOmanifestation_ofimg Caused by mutation in the NADH dehydrogenase (ubiquinone) Fe-S protein 7 gene (NDUFS7, 601825.0001) C1850614
DISO_to_DISOmanifestation_ofimg Caused by mutation in the NADH dehydrogenase (ubiquinone) Fe-S protein 8 gene (NDUFS8, 602141.0001) C1850615
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0023264Leigh Disease0self