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	Cât de frecvent apare
Low number of red blood cells or hemoglobin	Foarte des (80–99%)
Folate-unresponsive megaloblastic anemia	Neînregistrat
Hypochromia	Neînregistrat
Poikilocytosis	Neînregistrat
Pyrimidine-responsive megaloblastic anemia	Neînregistrat
Unequal size of red blood cells	Neînregistrat

Laboratory abnormality

Trait	Cât de frecvent apare
Abnormal urinary amino-acid findings	Foarte des (80–99%)
High urine orotic acid levels	Foarte des (80–99%)
Orotic acid crystalluria	Foarte des (80–99%)
Blood in urine	Neînregistrat
Reduced orotidine 5-prime phosphate decarboxylase level	Neînregistrat

Abnormality of the cardiovascular system

Trait	Cât de frecvent apare
Increased spleen size	Des (30–79%)
Patent ductus arteriosus	Des (30–79%)
An opening in the wall separating the top two chambers of the heart	Uneori (5–29%)
Hole in heart wall separating two lower heart chambers	Uneori (5–29%)

Abnormality of head or neck

Trait	Cât de frecvent apare
Downward slanting of the opening between the eyelids	Des (30–79%)
Wide nasal bridge	Des (30–79%)

Abnormal cellular phenotype

Trait	Cât de frecvent apare
Impaired T cell function	Des (30–79%)

Abnormality of the ear

Trait	Cât de frecvent apare
Ears rotated toward back of head	Des (30–79%)

Abnormality of the eye

Trait	Cât de frecvent apare
Wide-set eyes	Des (30–79%)

Abnormality of the genitourinary system

Trait	Cât de frecvent apare
Abnormality of the ureter	Des (30–79%)

Abnormality of the immune system

Trait	Cât de frecvent apare
Recurrent respiratory infections	Des (30–79%)

Abnormality of the integument

Trait	Cât de frecvent apare
Abnormality of the toenail	Des (30–79%)

Abnormality of the musculoskeletal system

Trait	Cât de frecvent apare
Abnormal formation of the hip	Des (30–79%)

Abnormality of the nervous system

Trait	Cât de frecvent apare
Global developmental delay	Foarte des (80–99%)

Growth abnormality

Trait	Cât de frecvent apare
Faltering weight	Uneori (5–29%)

Cât de frecvent apare în rândul persoanelor cu una dintre afecțiunile asociate genei, cel mai des întâlnit dintre acestea, conform Human Phenotype Ontology. Aceste pagini descriu trăsături și cercetările din spatele lor; ele nu reprezintă un diagnostic, iar pentru simptome trebuie să vă adresați medicului sau consilierului genetic.

De unde provin aceste informații

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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