Traits

Traits linked to NPHP4

nephrocystin 4

The Human Phenotype Ontology links 27 traits to NPHP4, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the eye

Trait	How often it is seen
Abnormal retinal pigmentation	Very often (80–99%)
Breakdown of light-sensitive cells in back of eye	Very often (80–99%)
Visual impairment	Very often (80–99%)
Progressive loss of vision	Often (30–79%)
Rod-cone dystrophy	Often (30–79%)
Clouding of the lens of the eye	Sometimes (5–29%)
Lazy eye	Not recorded
Marked vision impairment	Not recorded
Rotary nystagmus	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Stage 5 chronic kidney disease	Always
Chronic kidney disease	Very often (80–99%)
Early menopause	Often (30–79%)
Nephronophthisis	Often (30–79%)
Increased urine output	Not recorded
Renal corticomedullary cysts	Not recorded
Renal tubular atrophy	Not recorded
Tubulointerstitial fibrosis	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Global developmental delay	Very often (80–99%)
Ataxia	Sometimes (5–29%)
Extreme thirst	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Abnormality of bone mineral density	Sometimes (5–29%)
Cone-shaped end part of bone	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Short stature	Very often (80–99%)
Growth delay	Not recorded

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Low number of red blood cells or hemoglobin	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
High blood pressure	Very often (80–99%)

Abnormality of the digestive system

Trait	How often it is seen
Excessive buildup of connective tissue and scarring of liver at birth	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 NPHP4 and how often each is seen. Find out more at hpo.jax.org.

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