Traits

Traits linked to FAN1

FANCD2 and FANCI associated nuclease 1

The Human Phenotype Ontology links 11 traits to FAN1, by body system: features seen in people with one of the gene's rare conditions.

Laboratory abnormality

Trait	How often it is seen
Glucose in urine	Often (30–79%)
High liver enzymes	Often (30–79%)
High urine protein levels	Often (30–79%)
Blood in urine	Sometimes (5–29%)
Elevated creatinine	Not recorded
Increased blood urea nitrogen	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Nephronophthisis	Always
Renal interstitial fibrosis	Always
Renal tubular cyst	Always
Tubulointerstitial nephritis	Always
Stage 5 chronic kidney disease	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 FAN1 and how often each is seen. Find out more at hpo.jax.org.

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