Traits

Traits linked to UMPS

uridine monophosphate synthetase

The Human Phenotype Ontology links 26 traits to UMPS, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Low number of red blood cells or hemoglobin	Very often (80–99%)
Folate-unresponsive megaloblastic anemia	Not recorded
Hypochromia	Not recorded
Poikilocytosis	Not recorded
Pyrimidine-responsive megaloblastic anemia	Not recorded
Unequal size of red blood cells	Not recorded

Laboratory abnormality

Trait	How often it is seen
Abnormal urinary amino-acid findings	Very often (80–99%)
High urine orotic acid levels	Very often (80–99%)
Orotic acid crystalluria	Very often (80–99%)
Blood in urine	Not recorded
Reduced orotidine 5-prime phosphate decarboxylase level	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Increased spleen size	Often (30–79%)
Patent ductus arteriosus	Often (30–79%)
An opening in the wall separating the top two chambers of the heart	Sometimes (5–29%)
Hole in heart wall separating two lower heart chambers	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Downward slanting of the opening between the eyelids	Often (30–79%)
Wide nasal bridge	Often (30–79%)

Abnormal cellular phenotype

Trait	How often it is seen
Impaired T cell function	Often (30–79%)

Abnormality of the ear

Trait	How often it is seen
Ears rotated toward back of head	Often (30–79%)

Abnormality of the eye

Trait	How often it is seen
Wide-set eyes	Often (30–79%)

Abnormality of the genitourinary system

Trait	How often it is seen
Abnormality of the ureter	Often (30–79%)

Abnormality of the immune system

Trait	How often it is seen
Recurrent respiratory infections	Often (30–79%)

Abnormality of the integument

Trait	How often it is seen
Abnormality of the toenail	Often (30–79%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Abnormal formation of the hip	Often (30–79%)

Abnormality of the nervous system

Trait	How often it is seen
Global developmental delay	Very often (80–99%)

Growth abnormality

Trait	How often it is seen
Faltering weight	Sometimes (5–29%)

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Where this comes from

The Human Phenotype Ontology, release 2026-09-01: the traits linked to UMPS and how often each is seen. Find out more at hpo.jax.org.

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