Orotic aciduria

Preferred Label : Orotic aciduria;

CISMeF acronym : OAWA;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Orotic aciduria I; Orotate phosphoribosyltransferase and orotidylic decarboxylase deficiency; Oprt and odc deficiency; Orotidylic pyrophosphorylase and orotidylic decarboxylase deficiency; Uridine monophosphate synthase deficiency; Ump synthase deficiency; Umps deficiency;

Included titles and symbols : Orotic aciduria without megaloblastic anemia; OAWA;

Description : Orotic aciduria is a rare autosomal recessive disorder characterized by megaloblastic anemia and orotic acid crystalluria that is frequently associated with some degree of physical and mental retardation. These features respond to appropriate pyrimidine replacement therapy, and most cases appear to have a good prognosis. A minority of cases have additional features, particularly congenital malformations and immune deficiencies, which may adversely affect this prognosis (summary by Webster et al., 2001). Bailey (2009) reported that to that time, 2 cases of orotic aciduria without megaloblastic anemia (OAWA) had been reported.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the uridine monophosphate synthetase gene (UMPS, 613891.0001);

Laboratory abnormalities : Orotic aciduria; Orotic acid crystalluria; Hematuria;

Prefixed ID : #258900;

Details

Origin ID

258900;

UMLS CUI

C0268130;

Automatic exact mappings (from CISMeF team)
- Oroticaciduria 1 [MeSH concept]
Currated CISMeF NLP mapping
- Hereditary Orotic Aciduria [NCIt concept]
- Hereditary orotic aciduria [ICD-11 Subcategory]
- Hereditary orotic aciduria [ORDO Disease]
- Hereditary orotic aciduria (disorder) [SNOMED CT concept]
- Hereditary orotic aciduria, type 1 (disorder) [SNOMED CT concept]
- Orotic aciduria [MedDRA LLT]
- Orotic aciduria (disorder) [SNOMED CT concept]
- Oroticaciduria [HPO term]
- Oroticaciduria [MedDRA Preferred Term]
- hereditary orotic aciduria [Disease (Nov.)]
- hereditary orotic aciduria, nos [SNOMED Notion]
- orotic aciduria [DO Concept]
- orotic aciduria [Disease (Nov.)]
- orotic aciduria, nos [SNOMED Notion]
- oroticaciduria [CISMeF Querying Strategy]
- oroticaciduria 1 [MeSH Supplementary Concept]
DO Cross reference
- orotic aciduria [DO Concept]
Genes related to phenotype
- Uridine monophosphate synthetase [OMIM gene]
HPO term(s)
- Anisocytosis [HPO term]
- Atrial septal defect [HPO term]
- Autosomal recessive inheritance [HPO term]
- Failure to thrive [HPO term]
- Folate-unresponsive megaloblastic anemia [HPO term]
- Global developmental delay [HPO term]
- Hematuria [HPO term]
- Hypochromia [HPO term]
- Impaired T cell function [HPO term]
- Orotic acid crystalluria [HPO term]
- Orotic acid urinary obstruction [HPO term]
- Oroticaciduria [HPO term]
- Poikilocytosis [HPO term]
- Predisposition to severe infections [HPO term]
- Pyrimidine-responsive megaloblastic anemia [HPO term]
- Reduced orotidine 5-prime phosphate decarboxylase level [HPO term]
- Ventricular septal defect [HPO term]
ORDO concept(s)
- Hereditary orotic aciduria [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hereditary orotic aciduria type 1 [ICD-11 More detail]
- Hereditary orotic aciduria, type 1 (disorder) [SNOMED CT concept]
- Oroticaciduria 1 [MeSH concept]
- hereditary orotic aciduria, type 1 [SNOMED Notion]
- oroticaciduria 1 [MeSH Supplementary Concept]
Validated automatic mappings to BTNT
- Hereditary orotic aciduria type 1 [ICD-11 More detail]
- hereditary orotic aciduria [Disease (Nov.)]

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