Traits

Traits linked to UPB1

beta-ureidopropionase 1

The Human Phenotype Ontology links 36 traits to UPB1, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the nervous system

Trait	Hvor ofte den forekommer
Epilepsy	Ofte (30–79 %)
Global developmental delay	Ofte (30–79 %)
Intellectual disability	Ofte (30–79 %)
Autism	Noen ganger (5–29 %)
Cortical dysplasia	Noen ganger (5–29 %)
Degeneration of cerebrum	Noen ganger (5–29 %)
Delayed CNS myelination	Noen ganger (5–29 %)
Delayed myelination	Noen ganger (5–29 %)
Delayed speech and language development	Noen ganger (5–29 %)
Dystonia	Noen ganger (5–29 %)
Hypsarrhythmia	Noen ganger (5–29 %)
Loss of consciousness	Noen ganger (5–29 %)
Motor delay	Noen ganger (5–29 %)
Repeated seizures without recovery between them	Noen ganger (5–29 %)
Abnormal speech pattern	Ikke registrert

Laboratory abnormality

Trait	Hvor ofte den forekommer
Elevated circulating N-carbamyl-beta-aminoisobutyric acid concentration	Alltid
Elevated urinary ureidopropionic acid level	Alltid
Reduced hepatic beta-ureidopropionase activity	Alltid
Elevated urinary dihydrothymine level	Ofte (30–79 %)
Elevated urinary dihydrouracil level	Ofte (30–79 %)
Elevated urinary N-carbamoyl-beta-alanine level	Ofte (30–79 %)
Elevated urinary N-carbamyl-beta-aminoisobutyric acid level	Ofte (30–79 %)
Higher than normal levels of lactate in blood	Noen ganger (5–29 %)
Metabolic acidosis	Noen ganger (5–29 %)
Elevated circulating N-carbamoyl-beta-alanine concentration	Ikke registrert
Elevated CSF N-carbamyl-beta-alanine concentration	Ikke registrert
Elevated CSF N-carbamyl-beta-aminoisobutyric acid concentration	Ikke registrert
Elevated urinary ureidoisobutyric acid level	Ikke registrert

Abnormality of the musculoskeletal system

Trait	Hvor ofte den forekommer
Low muscle tone	Ofte (30–79 %)
Scoliosis	Noen ganger (5–29 %)
Low muscle tone, in neonatal onset	Ikke registrert

Abnormality of the digestive system

Trait	Hvor ofte den forekommer
Absent anus	Ikke registrert
Bladder exstrophy	Ikke registrert

Abnormality of head or neck

Trait	Hvor ofte den forekommer
Abnormally small head	Noen ganger (5–29 %)

Abnormality of the genitourinary system

Trait	Hvor ofte den forekommer
Cleft of scrotum	Ikke registrert

Growth abnormality

Trait	Hvor ofte den forekommer
Growth delay	Noen ganger (5–29 %)

Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.

Slik er informasjonen samlet

The Human Phenotype Ontology, release 2026-09-01: the traits linked to UPB1 and how often each is seen. Find out more at hpo.jax.org.

Én test. En livstid med svar.

Fra 449 $Gratis frakt · Resultater på 6–8 uker

Få mitt Genome Test