Traits

Traits linked to APPL1

adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1

The Human Phenotype Ontology links 29 traits to APPL1, by body system: features seen in people with one of the gene's rare conditions.

Laboratory abnormality

Trait	How often it is seen
Maturity-onset diabetes of the young	Always
Abnormal circulating C-peptide concentration	Often (30–79%)
Abnormal oral glucose tolerance	Often (30–79%)
Glucose in urine	Often (30–79%)
Glucose intolerance	Often (30–79%)
High blood sugar	Often (30–79%)
Hyperinsulinemic hypoglycemia	Sometimes (5–29%)
Insulin resistant diabetes	Sometimes (5–29%)
Low blood sugar in newborn	Sometimes (5–29%)
Transient neonatal diabetes mellitus	Sometimes (5–29%)
Diabetes mellitus	Not recorded
Diabetic ketoacidosis	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Kidney damage	Sometimes (5–29%)
Abnormality of the genitourinary system	Rarely (1–4%)
Abnormality of the kidney	Rarely (1–4%)
Cystic kidney disease	Rarely (1–4%)

Growth abnormality

Trait	How often it is seen
Birth weight > 90th percentile	Sometimes (5–29%)
Overweight	Sometimes (5–29%)
Prenatal growth deficiency	Sometimes (5–29%)
Obesity	Rarely (1–4%)

Abnormality of the digestive system

Trait	How often it is seen
Hepatocellular adenoma	Rarely (1–4%)
Inability to properly digest food due to lack of pancreatic digestive enzymes	Rarely (1–4%)
Underdeveloped pancreas	Rarely (1–4%)

Abnormality of the endocrine system

Trait	How often it is seen
Abnormal circulating insulin concentration	Often (30–79%)
Hypoinsulinemia	Often (30–79%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Elevated hemoglobin A1c	Often (30–79%)

Abnormality of the eye

Trait	How often it is seen
Noninflammatory retina disease	Sometimes (5–29%)

Abnormality of the immune system

Trait	How often it is seen
Autoimmune antibody positivity	Not recorded

Abnormality of the integument

Trait	How often it is seen
Darkened and thickened skin	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 APPL1 and how often each is seen. Find out more at hpo.jax.org.

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