KEGG   DISEASE: Histidinemia
Entry
H00171                      Disease                                
Name
Histidinemia
Description
Histidinemia is an autosomal recessive disorder resulting from histidase deficiency. It results in increased histidine and histamine in blood, and decreased urocanic acid in blood and skin.
Category
Inherited metabolic disorder
Brite
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C50  Inborn errors of amino acid or other organic acid metabolism
     H00171  Histidinemia
Pathway-based classification of diseases [BR:br08402]
 Amino acid metabolism
  nt06037  Histidine metabolism
   H00171  Histidinemia
 Cellular process
  nt06545  Cornified envelope formation
   H00171  Histidinemia
Pathway
hsa00340  Histidine metabolism
Network
nt06037 Histidine metabolism
nt06545 Cornified envelope formation
Gene
HAL [HSA:3034] [KO:K01745]
Other DBs
ICD-11: 5C50.20
MeSH: C538320
OMIM: 235800
Reference
PMID:15806399
  Authors
Kawai Y, Moriyama A, Asai K, Coleman-Campbell CM, Sumi S, Morishita H, Suchi M
  Title
Molecular characterization of histidinemia: identification of four missense mutations in the histidase gene.
  Journal
Hum Genet 116:340-6 (2005)
DOI:10.1007/s00439-004-1232-5
Reference
PMID:8463510
  Authors
Virmani K, Widhalm K
  Title
Histidinemia: a biochemical variant or a disease?
  Journal
J Am Coll Nutr 12:115-24 (1993)
DOI:10.1080/07315724.1993.10718291
Reference
PMID:1943682
  Authors
Taylor RG, Levy HL, McInnes RR
  Title
Histidase and histidinemia. Clinical and molecular considerations.
  Journal
Mol Biol Med 8:101-16 (1991)
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