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Details
Link-It Detail - Disease - Hyperargininemia
Debug Stats
  • ### Total Build Time: 95 ms 19.930 KB
  • CONCEPT_NAME gt=6 ms Completed: 6 ms rowSize= 375 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 652 bytes
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  • Skipping details on: CONCEPT_TEXT gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_SEMANTIC_TYPE gt=4 ms Completed: 4 ms rowSize= 188 bytes
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  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
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  • CONCEPT_RELATIONSHIPS gt=69 ms Completed: 69 ms rowSize= 12.812 KB
  • CONCEPT_GENES gt=3 ms Completed: 3 ms rowSize= 45 bytes
  • CONCEPT_XREFS gt=5 ms Completed: 5 ms rowSize= 1.150 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (2)
Hyperargininemia C0268548
ARG1 DEFICIENCY
Definition (1)
A rare autosomal recessive disorder of the urea cycle. It is caused by a deficiency of the hepatic enzyme ARGINASE. Arginine is elevated in the blood and cerebrospinal fluid, and periodic HYPERAMMONEMIA may occur. Disease onset is usually in infancy or early childhood. Clinical manifestations include seizures, microcephaly, progressive mental impairment, hypotonia, ataxia, spastic diplegia, and quadriparesis. (From Hum Genet 1993 Mar;91(1):1-5; Menkes, Textbook of Child Neurology, 5th ed, p51)
Semantic Types (1)
Disease or Syndrome (T047)
Parents (1)
img Urea Cycle Disorders, Inborn C0154246
Ancestral Roots
RootRoot Plus OneDepthParent
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501236img Urea Cycle Disorders, Inborn C0154246
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255176img Urea Cycle Disorders, Inborn C0154246
img Nervous System Diseases C0027765img Central Nervous System Diseases C00076827img Urea Cycle Disorders, Inborn C0154246
Relationships (26)

Relation Types:
diso_​to_​anat : 1
diso_​to_​chem : 3
diso_​to_​diso : 21
diso_​to_​phen : 1


Relationships:
none : 6
associated_​with : 2
manifestation_​of : 17
use : 1
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_ANAT5img In Blood C0005768
DISO_to_CHEM3img ARGINASE C0003762
DISO_to_CHEM3img Arginine C0003765
DISO_to_DISO3img Complication Aspects C1171258
DISO_to_DISO3img HYPERAMMONAEMIA C0220994
DISO_to_PHEN3img genetic aspects C0017399
DISO_to_CHEMassociated_withimg ARGINASE C0003762
DISO_to_DISOassociated_withimg 270 CONGENITAL DEFICIENCIES C0333006
DISO_to_DISOuseimg ARG1 DEFICIENCY C0268548
DISO_to_DISOmanifestation_ofimg Anorexia C0003123
DISO_to_DISOmanifestation_ofimg Caused by mutations in the arginase gene (ARG1, 207800.0001) C1859741
DISO_to_DISOmanifestation_ofimg Developmental delay (disorder) C0424605
DISO_to_DISOmanifestation_ofimg Diaminoaciduria (arginuria, lysinuria, cystinuria, ornithinuria) C1859738
DISO_to_DISOmanifestation_ofimg Elevated CSF amino acids (arginine, ornithine, aspartate, threonine, glycine, and methionine) C1859740
DISO_to_DISOmanifestation_ofimg Growth failure C0878787
DISO_to_DISOmanifestation_ofimg HYPERAMMONAEMIA C0220994
DISO_to_DISOmanifestation_ofimg Hyperactive behavior C0424295
DISO_to_DISOmanifestation_ofimg Hyperarginemia C1859737
DISO_to_DISOmanifestation_ofimg Intellectual Disability C0025362
DISO_to_DISOmanifestation_ofimg Irritable Mood C0022107
DISO_to_DISOmanifestation_ofimg Orotic aciduria C0268128
DISO_to_DISOmanifestation_ofimg Progressive spastic quadriplegia C1859736
DISO_to_DISOmanifestation_ofimg Protein intolerance C1396243
DISO_to_DISOmanifestation_ofimg Pyrimidinuria C1859739
DISO_to_DISOmanifestation_ofimg Seizures C0036572
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0268548Hyperargininemia0self