Traits

Traits linked to VPS33A

VPS33A core subunit of CORVET and HOPS complexes

The Human Phenotype Ontology links 98 traits to VPS33A, by body system: features seen in people with one of the gene's rare conditions.

VPS33A

Abnormality of head or neck

Trait	How often it is seen
Corners of eye widely separated	Always
Eye folds	Always
Prominent forehead	Always
Wide nose	Always
Abnormally large tongue	Very often (80–99%)
Coarse facial features	Very often (80–99%)
Short neck	Very often (80–99%)
Abnormally small head	Often (30–79%)
J-shaped sella turcica	Often (30–79%)
Large forehead	Often (30–79%)
Long eyelashes	Often (30–79%)
Low frontal hairline	Often (30–79%)
Low hairline at back of neck	Often (30–79%)
Monobrow	Often (30–79%)
Wide nasal bridge	Often (30–79%)
Full cheeks	Sometimes (5–29%)
Full lips	Sometimes (5–29%)
Fullness around the eyes	Sometimes (5–29%)
Pink eye	Sometimes (5–29%)
Short nose	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Dysostosis multiplex	Always
Flexed joint that cannot be straightened	Always
Low muscle tone	Always
Funnel chest	Often (30–79%)
Joint stiffness	Often (30–79%)
Pigeon chest	Often (30–79%)
Abnormal deposits of calcium in the brain	Sometimes (5–29%)
Abnormal skeletal development	Sometimes (5–29%)
Barrel-shaped chest	Sometimes (5–29%)
Excessive inward curvature of lower spine	Sometimes (5–29%)
Hernia	Sometimes (5–29%)
Rounded lower back	Sometimes (5–29%)
Thoracic kyphosis	Sometimes (5–29%)
Flared iliac wing	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Cardiac failure	Very often (80–99%)
Enlarged liver and spleen	Very often (80–99%)
Increased spleen size	Very often (80–99%)
Abnormality of the heart	Often (30–79%)
An opening in the wall separating the top two chambers of the heart	Often (30–79%)
Elevated heart rate	Often (30–79%)
Enlarged and thickened heart muscle	Often (30–79%)
Increased blood pressure in blood vessels of lungs	Often (30–79%)
Patent ductus arteriosus	Often (30–79%)
Mitral regurgitation	Sometimes (5–29%)
Patent foramen ovale	Sometimes (5–29%)
Tricuspid regurgitation	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Absent speech development	Always
Global developmental delay	Always
Motor delay	Always
Brain degeneration	Often (30–79%)
Decreased reflex response	Often (30–79%)
Delayed CNS myelination	Often (30–79%)
Inability to walk	Often (30–79%)
Brain imaging abnormality	Sometimes (5–29%)
Delayed myelination	Sometimes (5–29%)
Too much cerebrospinal fluid in the brain	Sometimes (5–29%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Low number of red blood cells or hemoglobin	Always
Low blood neutrophil count	Very often (80–99%)
Low platelet count	Very often (80–99%)
Bone marrow failure	Often (30–79%)
Decreased blood leukocyte number	Often (30–79%)
Abnormality of coagulation	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
High urine protein levels	Always
Low albumin	Always
Heparan sulfate excretion in urine	Often (30–79%)
Macrovesicular hepatic steatosis	Often (30–79%)
Urinary glycosaminoglycan excretion	Often (30–79%)
Severely high blood protein levels	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Nephrotic syndrome	Very often (80–99%)
Focal segmental glomerulosclerosis	Often (30–79%)
Kidney inflammation	Often (30–79%)
Renal tubular atrophy	Often (30–79%)
Enlarged kidney	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Coarse hair	Often (30–79%)
Excessive hairiness	Often (30–79%)
Thickened skin	Often (30–79%)
Excessive hair growth	Sometimes (5–29%)
Thick hair	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Clubbing of fingers and toes	Often (30–79%)
Deep palm line	Sometimes (5–29%)
Acetabular dysplasia	Not recorded
Broad wide portion of long bone	Not recorded

Abnormality of the eye

Trait	How often it is seen
Optic atrophy	Often (30–79%)
Abnormal retinal pigmentation	Sometimes (5–29%)
Chorioretinal hypopigmentation	Sometimes (5–29%)
Involuntary, rapid, rhythmic eye movements	Sometimes (5–29%)

Abnormality of the immune system

Trait	How often it is seen
Recurrent infections in bronchi and lungs	Always
Recurrent pneumonia	Always
Recurrent respiratory infections	Always
Infection in blood stream	Sometimes (5–29%)

Abnormality of the respiratory system

Trait	How often it is seen
Breathing difficulties	Always
Abnormality of the respiratory system	Very often (80–99%)
Obstructive lung disease	Often (30–79%)
Noisy breathing	Sometimes (5–29%)

Abnormal cellular phenotype

Trait	How often it is seen
Increased circulating IgM concentration	Very often (80–99%)
Decreased circulating IgG concentration	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Enlarged liver	Very often (80–99%)
Recurrent gastroenteritis	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 VPS33A and how often each is seen. Find out more at hpo.jax.org.

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