Traits

Traits linked to NUP85

nucleoporin 85

The Human Phenotype Ontology links 45 traits to NUP85, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of head or neck

Trait	How often it is seen
Abnormally small head	Very often (80–99%)
Beaked nose	Very often (80–99%)
Deformity of the skull	Very often (80–99%)
Little lower jaw	Very often (80–99%)
Narrow face	Very often (80–99%)
Abnormal tooth enamel	Often (30–79%)
Decreased number of teeth	Often (30–79%)
Downward slanting of the opening between the eyelids	Often (30–79%)
Periorbital edema	Often (30–79%)
Sparse scalp hair	Often (30–79%)

Abnormality of the genitourinary system

Trait	How often it is seen
Focal segmental glomerulosclerosis	Always
Steroid-resistant nephrotic syndrome	Always
Chronic kidney disease	Often (30–79%)
Stage 5 chronic kidney disease	Often (30–79%)
Diffuse mesangial sclerosis	Sometimes (5–29%)
Minimal change glomerulonephritis	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Cognitive impairment	Very often (80–99%)
Intellectual disability	Very often (80–99%)
Mild global developmental delay	Very often (80–99%)
Headache	Sometimes (5–29%)
Irritability	Sometimes (5–29%)
Abnormality of the nervous system	Rarely (1–4%)

Laboratory abnormality

Trait	How often it is seen
High urine protein levels	Always
Small amount of blood in urine	Always
Fluid retention	Very often (80–99%)
Fever	Sometimes (5–29%)
Foamy urine	Sometimes (5–29%)
Low albumin	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Delayed bone maturation	Very often (80–99%)
Abnormal formation of the hip	Often (30–79%)
Cone-shaped end part of bone	Often (30–79%)
Double-Jointed	Often (30–79%)
Scoliosis	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Prenatal growth deficiency	Very often (80–99%)
Short stature	Very often (80–99%)
Wasting syndrome	Very often (80–99%)

Abnormality of limbs

Trait	How often it is seen
Curvature of little finger	Very often (80–99%)
Gap between 1st and 2nd toes	Very often (80–99%)

Abnormality of the digestive system

Trait	How often it is seen
Abdominal pain	Sometimes (5–29%)
Peritonitis	Rarely (1–4%)

Abnormality of the ear

Trait	How often it is seen
Abnormal earlobe	Often (30–79%)
Absent earlobe	Often (30–79%)

Abnormality of the eye

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

Abnormality of the integument

Trait	How often it is seen
Prematurely aged appearance	Very often (80–99%)

Abnormality of the respiratory system

Trait	How often it is seen
Respiratory tract infection	Sometimes (5–29%)

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 NUP85 and how often each is seen. Find out more at hpo.jax.org.

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