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Details
Link-It Detail - Disease - Deficiency in histidase
Debug Stats
  • ### Total Build Time: 41 ms 11.015 KB
  • CONCEPT_NAME gt=2 ms Completed: 2 ms rowSize= 344 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 413 bytes
  • CONCEPT_SYNONYM gt=NONE 1 ms 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= 14 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=0 Completed: 0 ms rowSize= 7 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 15 bytes
  • CONCEPT_RELATIONSHIPS gt=22 ms Completed: 22 ms rowSize= 6.974 KB
  • CONCEPT_GENES gt=10 ms Completed: 10 ms rowSize= 2.074 KB
  • CONCEPT_XREFS gt=5 ms Completed: 5 ms rowSize= 1.157 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Deficiency in histidase C0220992
Definition (1)
autosomal recessive aminoacidopathy due to deficiency of histidine ammonia-lyase; characterized by accumulation of histidine in serum and urinary excretion of histidine and metabolites, but is usually benign; may cause mild central nervous system dysfunction.
Relationships (15)

Relation Types:
diso_​to_​chem : 1
diso_​to_​diso : 14


Relationships:
alias_​of : 1
associated_​with : 2
manifestation_​of : 12
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_CHEMassociated_withimg Histidine Ammonia-Lyase C0019601
DISO_to_DISOassociated_withimg 270 CONGENITAL DEFICIENCIES C0333006
DISO_to_DISOmanifestation_ofimg Behavioral disorders (rare) C1856100
DISO_to_DISOmanifestation_ofimg Caused by mutation in the histidine ammonia lyase gene (HAL, 609457.0001) C1856106
DISO_to_DISOmanifestation_ofimg Decreased histidase activity C1856104
DISO_to_DISOmanifestation_ofimg Decreased or absent histidase activity C1856102
DISO_to_DISOmanifestation_ofimg Decreased urocanic acid in blood, urine, and skin cells C1856103
DISO_to_DISOmanifestation_ofimg Decreased urocanic acid in stratum corneum C1856105
DISO_to_DISOalias_ofimg Deficiency in histidase C0220992
DISO_to_DISOmanifestation_ofimg Generally considered to be a benign disorder C1856107
DISO_to_DISOmanifestation_ofimg High prevalence in Japan C1856108
DISO_to_DISOmanifestation_ofimg Increased histidine in blood, urine, and CSF C1856101
DISO_to_DISOmanifestation_ofimg Mental retardation (rare less than 1% of cases) C1856098
DISO_to_DISOmanifestation_ofimg Relationship of rare neuropsychiatric signs to histidinemia is unclear C1856109
DISO_to_DISOmanifestation_ofimg Speech disorders (rare) C1856099
Genes (1)

Species:
human : 1
SpeciesGeneGeneIdGene NameEvidence
HumanHAL3034histidine ammonia-lyase
img OMIM, Score=1000, UMLKSK CUI: C0220992
img GENERIF, Score=1000, Pubmed Id: 15806399, UMLKSK CUI: C0220992
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0220992Deficiency in histidase0self