Traits

Traits linked to PBX1

PBX homeobox 1

The Human Phenotype Ontology links 67 traits to PBX1, by body system: features seen in people with one of the gene's rare conditions.

PBX1

Abnormality of the genitourinary system

Trait	How often it is seen
Small kidneys	Very often (80–99%)
Chronic kidney disease	Often (30–79%)
Cystic kidney disease	Often (30–79%)
Decreased glomerular filtration rate	Often (30–79%)
Vesicoureteral reflux	Often (30–79%)
Absence of renal corticomedullary differentiation	Sometimes (5–29%)
Absent kidney on one side	Sometimes (5–29%)
Horseshoe kidney	Sometimes (5–29%)
Oliguria	Sometimes (5–29%)
Undescended testes	Sometimes (5–29%)
Renal failure	Rarely (1–4%)
Abnormal kidney location	Not recorded
Absent kidney	Not recorded
Ambiguous external genitalia	Not recorded
Bifid ureter	Not recorded
Decreased numbers of nephrons	Not recorded
Hyperechogenic kidneys	Not recorded
Renal dysplasia	Not recorded
Short penis	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Potter facies	Often (30–79%)
Abnormal facial shape	Not recorded
Deep philtrum	Not recorded
Eye folds	Not recorded
Long face	Not recorded
Narrow face	Not recorded
Nasal tip, upturned	Not recorded
Thin red part of the upper lip	Not recorded
Wide nasal bridge	Not recorded

Laboratory abnormality

Trait	How often it is seen
High urine protein levels	Often (30–79%)
Beta 2-microglobulinuria	Sometimes (5–29%)
Fluid retention	Sometimes (5–29%)
Glucose in urine	Sometimes (5–29%)
Increased circulating potassium concentration	Sometimes (5–29%)
Low blood sodium levels	Sometimes (5–29%)
Metabolic acidosis	Sometimes (5–29%)
Small amount of blood in urine	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Hearing impairment	Often (30–79%)
Abnormally shaped ears	Not recorded
Anteverted ears	Not recorded
Hypoplastic helices	Not recorded
Low-set ears	Not recorded
Small ears	Not recorded
Thickened helices	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Global developmental delay	Often (30–79%)
Lethargy	Sometimes (5–29%)
Neurodevelopmental delay	Sometimes (5–29%)
Delayed speech and language development	Not recorded
Motor delay	Not recorded

Abnormality of the eye

Trait	How often it is seen
Astigmatism	Sometimes (5–29%)
Farsightedness	Sometimes (5–29%)
Involuntary, rapid, rhythmic eye movements	Sometimes (5–29%)
Cross-eyed	Not recorded

Growth abnormality

Trait	How often it is seen
Faltering weight	Sometimes (5–29%)
Growth delay	Sometimes (5–29%)
Short stature	Sometimes (5–29%)
Small for gestational age	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
High blood pressure	Often (30–79%)
Abnormality of the heart	Rarely (1–4%)
Aneurysm	Not recorded

Abnormality of prenatal development or birth

Trait	How often it is seen
Low levels of amniotic fluid	Often (30–79%)
Premature birth	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Congenital diaphragmatic hernia	Not recorded
Generalized decreased muscle tone	Not recorded

Abnormality of the respiratory system

Trait	How often it is seen
Neonatal respiratory distress	Sometimes (5–29%)
Respiratory function loss	Rarely (1–4%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Low number of red blood cells or hemoglobin	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Feeding difficulties	Often (30–79%)

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 PBX1 and how often each is seen. Find out more at hpo.jax.org.

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