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Details
Link-It Detail - Disease - MELAS Syndrome
Debug Stats
  • ### Total Build Time: 110 ms 37 KB
  • CONCEPT_NAME gt=5 ms Completed: 5 ms rowSize= 326 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 794 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=0 Completed: 0 ms rowSize= 188 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=10 ms Completed: 10 ms rowSize= 1,020 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 10.641 KB
  • CONCEPT_RELATIONSHIPS gt=77 ms Completed: 77 ms rowSize= 12.789 KB
  • CONCEPT_GENES gt=16 ms Completed: 16 ms rowSize= 10.113 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.148 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
MELAS Syndrome C0162671
Definition (1)
A mitochondrial disorder characterized by focal or generalized seizures, episodes of transient or persistent neurologic dysfunction resembling strokes, and ragged-red fibers on muscle biopsy. Affected individuals tend to be normal at birth through early childhood, then experience growth failure, episodic vomiting, and recurrent cerebral insults resulting in visual loss and hemiparesis. The cortical lesions tend to occur in the parietal and occipital lobes and are not associated with vascular occlusion. VASCULAR HEADACHE is frequently associated and the disorder tends to be familial. (From Joynt, Clinical Neurology, 1992, Ch56, p117)
Semantic Types (1)
Disease or Syndrome (T047)
Parents (2)
img Mitochondrial Encephalomyopathies C0162666
img Brain Diseases, Metabolic, Inborn C0752109
Ancestral Roots
RootRoot Plus OneDepthParent
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255176img Mitochondrial Encephalomyopathies C0162666
img Nervous System Diseases C0027765img Neuromuscular Diseases C00278686img Mitochondrial Encephalomyopathies C0162666
img Musculoskeletal Diseases C0026857img Muscular Diseases C00268485img Mitochondrial Encephalomyopathies C0162666
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255175img Mitochondrial Encephalomyopathies C0162666
img Nervous System Diseases C0027765img Central Nervous System Diseases C00076826img Mitochondrial Encephalomyopathies C0162666
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
Relationships (50)

Relation Types:
diso_​to_​anat : 3
diso_​to_​chem : 6
diso_​to_​diso : 35
diso_​to_​phen : 2
diso_​to_​phys : 4


Relationships:
none : 20
alias_​of : 1
manifestation_​of : 28
mapped_​to : 1
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN96img genetic aspects C0017399
DISO_to_PHEN88img genetic aspects C0017399
DISO_to_DISO62img Complication Aspects C1171258
DISO_to_DISO56img Complication Aspects C1171258
DISO_to_CHEM48img DNA, Mitochondrial C0012929
DISO_to_CHEM45img DNA, Mitochondrial C0012929
DISO_to_PHYS28img Mutation C0026882
DISO_to_PHYS28img Mutation, Point C0162735
DISO_to_DISO15img MERRF Syndrome C0162672
DISO_to_PHYS15img Mutation, Point C0162735
DISO_to_ANAT14img Brain C0006104
DISO_to_DISO14img Stroke C0038454
DISO_to_ANAT13img Brain C0006104
DISO_to_DISO13img Cerebrovascular accident C0038454
DISO_to_CHEM12img Arginine C0003765
DISO_to_CHEM12img Leucine-Specific tRNA C0035724
DISO_to_CHEM12img RNA, Transfer, Leu C0035724
DISO_to_PHYS12img Mutation C0026882
DISO_to_ANAT10img In Blood C0005768
DISO_to_CHEM10img Leucine-Specific tRNA C0035724
DISO_to_DISOmanifestation_ofimg ACIDOSIS LACTIC C0001125
DISO_to_DISOmanifestation_ofimg Bilateral cataracts (disorder) C0521707
DISO_to_DISOmanifestation_ofimg Blindness, Cortical C0155320
DISO_to_DISOmanifestation_ofimg Caused by mutation in the mitochondrial complex I, subunit ND1 gene (MTND1, 516000.0012) C2677651
DISO_to_DISOmanifestation_ofimg Caused by mutation in the mitochondrial complex I, subunit ND5 gene (MTND5, 516005.0004) C3151948
Genes (8)

Species:
human : 8
SpeciesGeneGeneIdGene NameEvidence
HumanGFM284340G elongation factor, mitochondrial 2
img GENERIF, Score=694, Pubmed Id: 18753147, UMLKSK CUI: C0162671
HumanNDUFV34731NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa
img GENERIF, Score=827, Pubmed Id: 16849371, UMLKSK CUI: C0162671
HumanTRNL14567tRNA
img GENERIF, Score=1000, Pubmed Id: 18456717, UMLKSK CUI: C0162671
img GENERIF, Score=1000, Pubmed Id: 15477592, UMLKSK CUI: C0162671
HumanTRNA4553tRNA
img GENERIF, Score=1000, Pubmed Id: 16446307, UMLKSK CUI: C0162671
HumanND54540NADH dehydrogenase, subunit 5 (complex I)
img GENERIF, Score=1000, Pubmed Id: 18332249, UMLKSK CUI: C0162671
HumanND14535NADH dehydrogenase, subunit 1 (complex I)
img GENERIF, Score=1000, Pubmed Id: 15466014, UMLKSK CUI: C0162671
HumanDDIT31649DNA-damage-inducible transcript 3
img GENERIF, Score=1000, Pubmed Id: 17276738, UMLKSK CUI: C0162671
HumanASNS440asparagine synthetase (glutamine-hydrolyzing)
img GENERIF, Score=1000, Pubmed Id: 17276738, UMLKSK CUI: C0162671
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0162671MELAS Syndrome0self