Traits

Traits linked to CLDN16

claudin 16

The Human Phenotype Ontology links 52 traits to CLDN16, by body system: features seen in people with one of the gene's rare conditions.

Laboratory abnormality

Trait	How often it is seen
Decreased circulating calcitriol concentration	Always
Elevated circulating beta-CTX concentration	Always
Elevated creatinine	Always
High blood uric acid level	Always
High urine protein levels	Always
Hypercitraturia	Always
Hyposthenuria	Always
Kidney Ca wasting	Always
Renal magnesium wasting	Always
Bloody urine	Very often (80–99%)
Distal renal tubular acidosis	Very often (80–99%)
Elevated circulating parathyroid hormone level	Very often (80–99%)
Elevated urine calcium levels	Very often (80–99%)
Hypermagnesiuria	Very often (80–99%)
Low blood magnesium levels	Very often (80–99%)
Acidosis	Often (30–79%)
Elevated alkaline phosphatase	Often (30–79%)
High blood phosphate levels	Often (30–79%)
High urine uric acid level	Often (30–79%)
Hypocitraturia	Often (30–79%)
Low blood calcium levels	Often (30–79%)
Sterile pyuria	Often (30–79%)
Small amount of blood in urine	Sometimes (5–29%)
Blood in urine	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Increased calcium level in kidney	Always
Renal failure	Always
Increased urine output	Very often (80–99%)
Frequent urinary tract infections	Often (30–79%)
Kidney stone	Sometimes (5–29%)
Stage 5 chronic kidney disease	Sometimes (5–29%)
Chronic kidney disease	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Amelogenesis imperfecta	Very often (80–99%)
Thin dental enamel	Often (30–79%)
Hypomature enamel	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Bowed legs	Always
Knock knees	Always
Shortened long bone of hand	Always

Abnormality of the digestive system

Trait	How often it is seen
Abdominal pain	Often (30–79%)
Vomiting	Often (30–79%)
Feeding difficulties in infancy	Not recorded

Abnormality of the eye

Trait	How often it is seen
Astigmatism	Sometimes (5–29%)
Close sighted	Sometimes (5–29%)
Cross-eyed	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Muscle weakness	Always
Intermittent involuntary muscle spasm	Sometimes (5–29%)
Weak and soft bones	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Extreme thirst	Very often (80–99%)
Low calcium seizures	Often (30–79%)
Epilepsy	Not recorded

Growth abnormality

Trait	How often it is seen
Faltering weight	Often (30–79%)
Short stature	Often (30–79%)

Abnormality of the cardiovascular system

Trait	How often it is seen
High blood pressure	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 CLDN16 and how often each is seen. Find out more at hpo.jax.org.

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