Traits

Traits linked to NPHS1

NPHS1 adhesion molecule, nephrin

The Human Phenotype Ontology links 37 traits to NPHS1, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the genitourinary system

Trait	How often it is seen
Nephrotic syndrome	Always
Abnormal renal tubule morphology	Very often (80–99%)
Chronic kidney disease	Often (30–79%)
Focal segmental glomerulosclerosis	Often (30–79%)
Stage 5 chronic kidney disease	Often (30–79%)
Diffuse mesangial sclerosis	Sometimes (5–29%)
Minimal change glomerulonephritis	Sometimes (5–29%)
Congenital nephrotic syndrome	Not recorded
Glomerular sclerosis	Not recorded
Renal failure	Not recorded
Renal tubular atrophy	Not recorded

Laboratory abnormality

Trait	How often it is seen
Anasarca	Always
Decreased protein levels in blood	Always
Elevated serum cholesterol	Always
High urine protein levels	Always
Low albumin	Always
Fluid retention	Very often (80–99%)
Fever	Sometimes (5–29%)
Foamy urine	Sometimes (5–29%)
Elevated lipids in blood	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Abdominal pain	Sometimes (5–29%)
Peritonitis	Rarely (1–4%)
Abdominal bloating	Not recorded
Acid reflux	Not recorded
Pyloric stenosis	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Headache	Sometimes (5–29%)
Irritability	Sometimes (5–29%)
Abnormality of the nervous system	Rarely (1–4%)

Abnormality of head or neck

Trait	How often it is seen
Delayed eruption of permanent teeth	Very often (80–99%)
Periorbital edema	Often (30–79%)

Abnormality of the respiratory system

Trait	How often it is seen
Respiratory tract infection	Sometimes (5–29%)
Neonatal respiratory distress	Not recorded

Growth abnormality

Trait	How often it is seen
Growth delay	Not recorded
Small for gestational age	Not recorded

Abnormality of prenatal development or birth

Trait	How often it is seen
Elevated amniotic fluid alpha-fetoprotein concentration	Very often (80–99%)

Abnormality of the endocrine system

Trait	How often it is seen
Underactive thyroid	Not recorded

Abnormality of the immune system

Trait	How often it is seen
Recurrent infections	Not recorded

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 NPHS1 and how often each is seen. Find out more at hpo.jax.org.

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