Traits

Traits linked to VIPAS39

VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog

The Human Phenotype Ontology links 52 traits to VIPAS39, by body system: features seen in people with one of the gene's rare conditions.

VIPAS39

Laboratory abnormality

Trait	How often it is seen
Abnormal urinary amino-acid findings	Always
Glucose in urine	Always
High urine protein levels	Always
Metabolic acidosis	Always
Conjugated hyperbilirubinemia	Often (30–79%)
Renal Fanconi syndrome	Often (30–79%)
Accumulation of acid in body due to kidney problem	Not recorded
Elevated gamma-glutamyltransferase level	Not recorded
High liver enzymes	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Cholestatic liver disease	Always
Enlarged liver	Always
Chronic diarrhea	Often (30–79%)
Neonatal cholestatic liver disease	Often (30–79%)
Intrahepatic biliary atresia	Sometimes (5–29%)
Giant cell hepatitis	Not recorded
Jaundice	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Arthrogryposis multiplex congenita	Always
Low muscle tone	Sometimes (5–29%)
Muscle degeneration	Sometimes (5–29%)
Osteopenia	Sometimes (5–29%)
Spontaneous fracture	Sometimes (5–29%)
Abnormal formation of the hip	Not recorded
Generalized decreased muscle tone	Not recorded

Abnormality of the integument

Trait	How often it is seen
Itching	Always
Hyperkeratosis	Often (30–79%)
Ichthyosis	Often (30–79%)
Hanging skin	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Aplasia/Hypoplasia of the corpus callosum	Often (30–79%)
Intellectual disability	Often (30–79%)
Fewer or absent grooves in brain	Sometimes (5–29%)
Global developmental delay	Not recorded

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Abnormal alpha granules	Often (30–79%)
Abnormal platelet aggregation	Often (30–79%)
Abnormal platelet count	Often (30–79%)

Abnormality of the genitourinary system

Trait	How often it is seen
Abnormal function of filtrating structures in kidney	Often (30–79%)
Increased calcium level in kidney	Sometimes (5–29%)
Kidney damage	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Abnormally small head	Sometimes (5–29%)
Sloping forehead	Not recorded

Abnormality of limbs

Trait	How often it is seen
Congenital bilateral hip dislocation	Often (30–79%)
Talipes calcaneovalgus	Not recorded

Abnormality of prenatal development or birth

Trait	How often it is seen
Less than 10 fetal movements in 12 hours	Sometimes (5–29%)
Low levels of amniotic fluid	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Hole in heart wall separating two lower heart chambers	Not recorded
Right ventricular hypertrophy	Not recorded

Abnormality of the ear

Trait	How often it is seen
Hearing impairment	Sometimes (5–29%)
Low-set ears	Sometimes (5–29%)

Abnormality of the endocrine system

Trait	How often it is seen
Nephrogenic diabetes insipidus	Sometimes (5–29%)
Underactive thyroid	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Faltering weight in infancy	Very often (80–99%)
Faltering weight	Not recorded

Abnormality of the immune system

Trait	How often it is seen
Recurrent infections	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 VIPAS39 and how often each is seen. Find out more at hpo.jax.org.

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