Orotic Aciduria malady
Categories: Genetic diseases, Rare diseases, Metabolic diseases, Blood diseases
Aliases & Descriptions for Orotic Aciduria:
Orphanet epidemiological data:52
hereditary orotic aciduria:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: any age
Inheritance: autosomal recessive inheritance
Global: Genetic diseases, Rare diseases, Metabolic diseases
Anatomical: Blood diseases
OMIM:50 Orotic aciduria is a rare autosomal recessive disorder characterized by megaloblastic anemia and orotic acid... (258900) more...
MalaCards based summary: Orotic Aciduria, also known as hereditary orotic aciduria, is related to hereditary orotic aciduria without megaloblastic anaemia and colorectal cancer, and has symptoms including aminoaciduria, cognitive impairment and hypertelorism. An important gene associated with Orotic Aciduria is UMPS (Uridine Monophosphate Synthetase), and among its related pathways are Pyrimidine metabolism (REACTOME) and Alanine and aspartate metabolism. Affiliated tissues include t cells, bone and liver, and related mouse phenotype integument.
Disease Ontology:11 A pyrimidine metabolic disorder that is characterized by an excessive secretion of orotic acid in urine.
NIH Rare Diseases:46 Orotic aciduria type i, also known as hereditary orotic aciduria, is a condition that occurs when the body cannot make a compound called ump synthetase, which is an important enzyme that produces the chemicals that make up dna. the main symptoms of this disease are megaloblastic anemia, as well as delays in physical and intellectual development. orotic aciduria is caused by inherited changes (mutations) in the umps gene. treatment consists of taking supplements of a compound called uridine. last updated: 4/2/2012
UniProtKB/Swiss-Prot:68 Orotic aciduria 1: A disorder of pyrimidine metabolism resulting in megaloblastic anemia and orotic acid crystalluria that is frequently associated with some degree of physical and mental retardation. A minority of cases have additional features, particularly congenital malformations and immune deficiencies.
Wikipedia:69 Orotic aciduria refers to an excessive excretion of orotic acid in urine. It causes a characteristic... more...
Symptoms by clinical synopsis from OMIM:258900
Clinical features from OMIM:258900
Symptoms:52 (show all 16)
HPO human phenotypes related to Orotic Aciduria:(show all 25)
MalaCards organs/tissues related to Orotic Aciduria:34
T cells, Bone, Liver, Testes, B cells, Heart
Articles related to Orotic Aciduria:(show top 50) (show all 79)
UniProtKB/Swiss-Prot genetic disease variations for Orotic Aciduria:68
Clinvar genetic disease variations for Orotic Aciduria:5
Search GEO for disease gene expression data for Orotic Aciduria.
Pathways related to Orotic Aciduria according to GeneCards Suite gene sharing:
Biological processes related to Orotic Aciduria according to GeneCards Suite gene sharing:
Molecular functions related to Orotic Aciduria according to GeneCards Suite gene sharing:
29ICD10 via Orphanet
38MESH via Orphanet
51OMIM via Orphanet
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
67UMLS via Orphanet