Urocanase Deficiency malady
Categories: Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases
Aliases & Descriptions for Urocanase Deficiency:
Orphanet epidemiological data:52
encephalopathy due to urocanase deficiency:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal
Inheritance: autosomal recessive inheritance
Global: Genetic diseases, Rare diseases, Metabolic diseases
Anatomical: Neuronal diseases
UniProtKB/Swiss-Prot:68 Urocanase deficiency: An inborn error of histidine metabolism resulting in urocanic aciduria and neurological manifestations including mental retardation, ataxia, episodic aggressive behavior or exaggerated affection-seeking.
MalaCards based summary: Urocanase Deficiency, is also known as encephalopathy due to urocanase deficiency, and has symptoms including nystagmus, blue irides and aggressive behavior. An important gene associated with Urocanase Deficiency is UROC1 (Urocanate Hydratase 1). Affiliated tissues include liver.
Wikipedia:69 Urocanic aciduria, also called urocanate hydratase deficiency or urocanase deficiency, is an autosomal... more...
Description from OMIM:50 276880
HPO human phenotypes related to Urocanase Deficiency:(show all 10)
UMLS symptoms related to Urocanase Deficiency:ataxia, tremor
MalaCards organs/tissues related to Urocanase Deficiency:34
UniProtKB/Swiss-Prot genetic disease variations for Urocanase Deficiency:68
Clinvar genetic disease variations for Urocanase Deficiency:5
Search GEO for disease gene expression data for Urocanase Deficiency.
29ICD10 via Orphanet
38MESH via Orphanet
51OMIM via Orphanet
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
67UMLS via Orphanet