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 - Lesch-Nyhan Syndrome
Debug Stats
  • ### Total Build Time: 237 ms 46.341 KB
  • CONCEPT_NAME gt=10 ms Completed: 10 ms rowSize= 338 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 682 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=2 ms Completed: 2 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= 1.894 KB
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=21 ms Completed: 21 ms rowSize= 17.274 KB
  • CONCEPT_RELATIONSHIPS gt=175 ms Completed: 175 ms rowSize= 13.554 KB
  • CONCEPT_GENES gt=13 ms Completed: 13 ms rowSize= 11.250 KB
  • CONCEPT_XREFS gt=5 ms Completed: 5 ms rowSize= 1.154 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Lesch-Nyhan Syndrome C0023374
Definition (1)
rare x-linked disorder of purine metabolism, due to deficiency of hypoxanthine phosphoribosyltransferase; affected individuals are normal in the first year of life and then develop psychomotor retardation, extrapyramidal movement disorders, progressive spasticity, and seizures; self-destructive behaviors such as biting of fingers and lips are seen frequently; intellectual impairment may also occur but is typically not severe; elevation of uric acid in the serum leads to the development of renal calculi and gouty arthritis.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (4)
img Brain Diseases, Metabolic, Inborn C0752109
img Mental Retardation, X-Linked C1136249
img Heredodegenerative Disorders, Nervous System C0751870
img Purine-Pyrimidine Metabolism, Inborn Errors C0034139
Ancestral Roots
RootRoot Plus OneDepthParent
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 C09501235img Brain Diseases, Metabolic, Inborn C0752109
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 Behavior and Behavior Mechanisms C0004928img Neurobehavioral Manifestations C05250415img 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 Mental Disorders C0004936img Mental Disorders Diagnosed in Childhood C05250405img Mental Retardation, X-Linked C1136249
img Nervous System Diseases C0027765img Neurodegenerative Diseases C05248514img Heredodegenerative Disorders, Nervous System C0751870
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501234img Heredodegenerative Disorders, Nervous System C0751870
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501235img Purine-Pyrimidine Metabolism, Inborn Errors C0034139
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255175img Purine-Pyrimidine Metabolism, Inborn Errors C0034139
Relationships (45)

Relation Types:
diso_​to_​chem : 3
diso_​to_​diso : 39
diso_​to_​phen : 2
diso_​to_​phys : 1


Relationships:
none : 11
associated_​with : 2
inheritance_​type_​of : 1
isa : 1
manifestation_​of : 26
permuted_​term_​of : 1
related_​to : 2
use : 1
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN43img genetic aspects C0017399
DISO_to_CHEM35img Hypoxanthine Phosphoribosyltransferase C0020687
DISO_to_PHEN25img genetic aspects C0017399
DISO_to_CHEM21img Hypoxanthine Phosphoribosyltransferase C0020687
DISO_to_DISO17img Complication Aspects C1171258
DISO_to_DISO16img Complication Aspects C1171258
DISO_to_PHYS10img Mutation C0026882
DISO_to_DISO8img Self-Injurious Behavior C0085271
DISO_to_DISO6img HYPERURICAEMIA C0740394
DISO_to_DISO6img Self Mutilation C0036601
DISO_to_DISO6img Self-Injurious Behavior C0085271
DISO_to_CHEMassociated_withimg Hypoxanthine Phosphoribosyltransferase C0020687
DISO_to_DISOassociated_withimg 270 CONGENITAL DEFICIENCIES C0333006
DISO_to_DISOmanifestation_ofimg ANAEMIA MEGALOBLASTIC C0002888
DISO_to_DISOmanifestation_ofimg ATROPHY OF TESTICLE C0156312
DISO_to_DISOmanifestation_ofimg Anemia C0002871
DISO_to_DISOmanifestation_ofimg Anemia, Megaloblastic C0002888
DISO_to_DISOmanifestation_ofimg Basal ganglia dysfunction C1845895
DISO_to_DISOmanifestation_ofimg CHOREOATHETOSIS C0085583
DISO_to_DISOmanifestation_ofimg Caused by mutations in the hypoxanthine phosphoribosyltransferase gene (HPRT1, 308000.0004) C1845899
DISO_to_DISOmanifestation_ofimg Classic Lesch-Nyhan, < 1.5% hypoxanthine phosphoribosyltransferase (HPRT) activity C1845900
DISO_to_DISOmanifestation_ofimg Deglutition Disorders C0011168
DISO_to_DISOmanifestation_ofimg Dysarthria C0013362
DISO_to_DISOmanifestation_ofimg Dystonia C0013421
DISO_to_DISOmanifestation_ofimg Extrapyramidal sign C0234133
Genes (2)

Species:
human : 2
SpeciesGeneGeneIdGene NameEvidence
HumanNKPD1284353NTPase, KAP family P-loop domain containing 1
img GENERIF, Score=1000, Pubmed Id: 15935074, UMLKSK CUI: C0023374
HumanHPRT13251hypoxanthine phosphoribosyltransferase 1
img OMIM, Score=882, UMLKSK CUI: C0023374
img GENERIF, Score=1000, Pubmed Id: 17454734, UMLKSK CUI: C0023374
img OMIM, Score=882, UMLKSK CUI: C0023374
img GENERIF, Score=1000, Pubmed Id: 18316217, UMLKSK CUI: C0023374
img GENERIF, Score=1000, Pubmed Id: 15571224, UMLKSK CUI: C0023374
img GENERIF, Score=1000, Pubmed Id: 16216473, UMLKSK CUI: C0023374
img GENERIF, Score=660, Pubmed Id: 18779430, UMLKSK CUI: C0023374
img GENERIF, Score=1000, Pubmed Id: 15862284, UMLKSK CUI: C0023374
img GENERIF, Score=756, Pubmed Id: 15277709, UMLKSK CUI: C0023374
img GENERIF, Score=1000, Pubmed Id: 18409516, UMLKSK CUI: C0023374
img GENERIF, Score=1000, Pubmed Id: 11668636, UMLKSK CUI: C0023374
img GENERIF, Score=1000, Pubmed Id: 17934765, UMLKSK CUI: C0023374
img GENERIF, Score=1000, Pubmed Id: 15862283, UMLKSK CUI: C0023374
img GENERIF, Score=902, Pubmed Id: 15571220, UMLKSK CUI: C0023374
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0023374Lesch-Nyhan Syndrome0self