Logo arc image image
GATACA
  • Pin/Unpin Search
  • Pin/Unpin Details
Status:
Global Actions
Concepts: 0 (0)   Selected: 0 (0
Clear All Selections
 
Search
Text Search Results
Text Search Query:
none
Text Search Options:
none

Guided Help

Text Search Results
GraphTree Minimize or Maximize this Category
 Disease: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Anatomy: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Minimize or Maximize this Category
 Gene: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Jax Mouse Phenotype: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Human Phenotype: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Gene Ontology: Biological Processes: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Gene Ontology: Cellular Component: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Gene Ontology: Molecular Function: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Minimize or Maximize this Category
 Pathway: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Drug: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Minimize or Maximize this Category
 Genomic Expression Atlas --
      Microarray Datasets: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Minimize or Maximize this Category
 PubMed: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 CoExpression Atlas: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Minimize or Maximize this Category
 CoExpression: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Minimize or Maximize this Category
 Interactions: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Details
Link-It Detail - Disease - Pyruvate Dehydrogenase Complex Deficiency Disease
Debug Stats
  • ### Total Build Time: 215 ms 39.151 KB
  • CONCEPT_NAME gt=14 ms Completed: 14 ms rowSize= 396 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 979 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=26 ms Completed: 26 ms rowSize= 1.863 KB
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=55 ms Completed: 55 ms rowSize= 15.895 KB
  • CONCEPT_RELATIONSHIPS gt=99 ms Completed: 99 ms rowSize= 13.871 KB
  • CONCEPT_GENES gt=7 ms Completed: 7 ms rowSize= 4.778 KB
  • CONCEPT_XREFS gt=12 ms Completed: 12 ms rowSize= 1.183 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Pyruvate Dehydrogenase Complex Deficiency Disease C0034345
Definition (1)
An inherited metabolic disorder caused by deficient enzyme activity in the PYRUVATE DEHYDROGENASE COMPLEX, resulting in deficiency of acetyl CoA and reduced synthesis of acetylcholine. Two clinical forms are recognized: neonatal and juvenile. The neonatal form is a relatively common cause of lactic acidosis in the first weeks of life and may also feature an erythematous rash. The juvenile form presents with lactic acidosis, alopecia, intermittent ATAXIA; SEIZURES; and an erythematous rash. (From J Inherit Metab Dis 1996;19(4):452-62) Autosomal recessive and X-linked forms are caused by mutations in the genes for the three different enzyme components of this multisubunit pyruvate dehydrogenase complex. One of the mutations at Xp22.2-p22.1 in the gene for the E1 alpha component of the complex leads to LEIGH DISEASE.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (4)
img Mitochondrial Diseases C0751651
img Brain Diseases, Metabolic, Inborn C0752109
img Mental Retardation, X-Linked C1136249
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 Mental Disorders C0004936img Mental Disorders Diagnosed in Childhood C05250405img Mental Retardation, X-Linked C1136249
img Nervous System Diseases C0027765img Neurologic Manifestations C00278546img Mental Retardation, X-Linked C1136249
img Pathological Conditions, Signs and Symptoms C0039058img Signs and Symptoms C00370887img Mental Retardation, X-Linked C1136249
img Behavior and Behavior Mechanisms C0004928img Neurobehavioral Manifestations C05250415img Mental Retardation, X-Linked C1136249
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501235img Mental Retardation, X-Linked C1136249
img Nervous System Diseases C0027765img Neurodegenerative Diseases C05248515img Mental Retardation, X-Linked C1136249
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 (56)

Relation Types:
diso_​to_​chem : 4
diso_​to_​diso : 50
diso_​to_​phen : 2


Relationships:
none : 5
associated_​with : 1
inheritance_​type_​of : 1
manifestation_​of : 46
mapped_​to : 1
permuted_​term_​of : 1
related_​to : 1
Page Size
Current 25
  Page 1 of 3
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_CHEM17img Pyruvate Dehydrogenase (Lipoamide) C0072792
DISO_to_PHEN17img genetic aspects C0017399
DISO_to_PHEN16img genetic aspects C0017399
DISO_to_CHEM10img Pyruvate Dehydrogenase (Lipoamide) C0072792
DISO_to_CHEM10img Pyruvate Dehydrogenase Complex C0034344
DISO_to_CHEMassociated_withimg Pyruvate C0244104
DISO_to_DISOmanifestation_ofimg 35% of patients have facial dysmorphism C1839432
DISO_to_DISOmanifestation_ofimg A subset of patients improve with thiamine C1839433
DISO_to_DISOmanifestation_ofimg A subset of patients may have normal levels of blood lactate C1839439
DISO_to_DISOmanifestation_ofimg A subset of patients may have subtle increases in blood lactate C1839438
DISO_to_DISOmanifestation_ofimg Abnormal eye movement C0497202
DISO_to_DISOmanifestation_ofimg Agenesis of Corpus Callosum C0175754
DISO_to_DISOmanifestation_ofimg Alar flare, nose C0277873
DISO_to_DISOmanifestation_ofimg Ataxia, episodic, occurring after febrile illness or stress C1839416
DISO_to_DISOmanifestation_ofimg Bossed forehead C0221354
DISO_to_DISOmanifestation_ofimg Brain atrophy C0235946
DISO_to_DISOmanifestation_ofimg CHOREOATHETOSIS C0085583
DISO_to_DISOmanifestation_ofimg Caused by mutation in the E1-alpha subunit of the pyruvate dehydrogenase complex (PDHA1, 300502.0001) C1839430
DISO_to_DISOmanifestation_ofimg Cystic lesions in the basal ganglia, brainstem, and cerebral hemispheres similar to Leigh syndrome (256000) C1839417
DISO_to_DISOmanifestation_ofimg Decreased activity of pyruvate decarboxylase (E1 component) C1839429
DISO_to_DISOmanifestation_ofimg Decreased activity of the pyruvate dehydrogenase complex (highly variable, 1-70% of controls) C1839428
DISO_to_DISOmanifestation_ofimg Dystonia C0013421
DISO_to_DISOmanifestation_ofimg Episodic ptosis C1839421
DISO_to_DISOmanifestation_ofimg Females demonstrate lyonization with corresponding phenotypic variation C1839435
DISO_to_DISOmanifestation_ofimg Highly variable phenotype C1865012
Genes (4)

Species:
human : 4
SpeciesGeneGeneIdGene NameEvidence
HumanPDHB5162pyruvate dehydrogenase (lipoamide) beta
img GENERIF, Score=1000, Pubmed Id: 17923481, UMLKSK CUI: C0034345
HumanPDHA15160pyruvate dehydrogenase (lipoamide) alpha 1
img GENERIF, Score=911, Pubmed Id: 16713755, UMLKSK CUI: C0034345
HumanDLD1738dihydrolipoamide dehydrogenase
img GENERIF, Score=1000, Pubmed Id: 11935326, UMLKSK CUI: C0034345
HumanDLAT1737dihydrolipoamide S-acetyltransferase
img GENERIF, Score=1000, Pubmed Id: 16049940, UMLKSK CUI: C0034345
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0034345Pyruvate Dehydrogenase Complex Deficiency Disease0self