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Traits

Traits linked to JAK1

Janus kinase 1

The Human Phenotype Ontology links 14 traits to JAK1, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the immune system

TraitHow often it is seen
AsthmaAlways
Baby eczemaAlways
Food allergyAlways
Recurrent viral infectionsNot recorded

Abnormality of the digestive system

TraitHow often it is seen
Colonic eosinophiliaAlways
Liver cystsAlways
Eosinophilic liver infiltrationNot recorded

Abnormality of the genitourinary system

TraitHow often it is seen
Membranous nephropathyAlways
Nephrotic syndromeAlways

Growth abnormality

TraitHow often it is seen
Faltering weightAlways
Short statureNot recorded

Abnormality of blood and blood-forming tissues

TraitHow often it is seen
High blood eosinophil countAlways

Abnormality of the cardiovascular system

TraitHow often it is seen
Enlarged liver and spleenNot recorded

Abnormality of the endocrine system

TraitHow often it is seen
Underactive thyroidNot 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 JAK1 and how often each is seen. Find out more at hpo.jax.org.

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