Traits

Traits linked to SHPK

sedoheptulokinase

The Human Phenotype Ontology links 29 traits to SHPK, by body system: features seen in people with one of the gene's rare conditions.

SHPK

Abnormality of the digestive system

Trait	How often it is seen
Cholestatic liver disease	Often (30–79%)
Fat in feces	Often (30–79%)
Gap between large left and right abdominal muscles	Often (30–79%)
Inguinal hernia	Often (30–79%)
Liver inflammation	Often (30–79%)
Slowed or blocked flow of bile from liver	Often (30–79%)

Abnormality of head or neck

Trait	How often it is seen
Big calvaria	Often (30–79%)
Decreased depth of eye sockets	Often (30–79%)
High forehead	Often (30–79%)
Wide fontanelles	Often (30–79%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Arthrogryposis multiplex congenita	Always
Flexed joint that cannot be straightened	Always
Abnormal formation of the hip	Often (30–79%)

Abnormality of the nervous system

Trait	How often it is seen
Abnormal CNS myelination	Often (30–79%)
Subcortical cerebral atrophy	Often (30–79%)
Ventriculomegaly	Often (30–79%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Hypochromic microcytic anemia	Often (30–79%)
Low number of red blood cells or hemoglobin	Often (30–79%)

Abnormality of the eye

Trait	How often it is seen
Abnormality of eyeball location	Often (30–79%)
Abnormally close eyes	Often (30–79%)

Abnormality of the genitourinary system

Trait	How often it is seen
Abnormal renal tubule morphology	Often (30–79%)
Renal failure	Often (30–79%)

Growth abnormality

Trait	How often it is seen
Severe growth delay in children	Often (30–79%)
Short stature	Often (30–79%)

Laboratory abnormality

Trait	How often it is seen
Increased urinary sedoheptulose	Always
Postprandial hyperglycemia	Often (30–79%)

Abnormality of prenatal development or birth

Trait	How often it is seen
Feet or buttocks of fetus positioned near opening of uterus	Often (30–79%)

Abnormality of the cardiovascular system

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

Abnormality of the respiratory system

Trait	How often it is seen
Neonatal asphyxia	Always

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

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