Nucleotide metabolism disorders
Gene: UMPS
20 unrelated patients have been reported with biallelic missense variants; one mouse model
Orotic aciduria is characterised by megaloblastic anaemia and orotic acid crystalluria, frequently associated with a degree of physical and intellectual disability. Other features include, congenital malformations (Atrial/ Ventricular septal defect) and immunodeficiencies (T-cell dysfunction, failure to thrive, recurrent infections).
Haematology features
- Megaloblastic anaemia
- Low to normal reticulocyte count
- Anisocytosis
- Poikilocytosis
- HypochromiaCreated: 7 Sep 2021, 9:08 a.m. | Last Modified: 7 Sep 2021, 9:08 a.m.
Panel Version: 0.9101
Well established gene-disease association.
Sources: Expert ReviewCreated: 29 Jan 2021, 11:48 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Orotic aciduria, MIM# 258900
Publications
gene: UMPS was added gene: UMPS was added to Nucleotide metabolism disorders. Sources: Expert Review Green Mode of inheritance for gene: UMPS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UMPS were set to 33489760; 9042911 Phenotypes for gene: UMPS were set to Orotic aciduria, MIM# 258900