Traits

Traits linked to INSR

insulin receptor

The Human Phenotype Ontology links 130 traits to INSR, by body system: features seen in people with one of the gene's rare conditions.

Laboratory abnormality

Trait	How often it is seen
Body fails to respond to insulin	Always
Conjugated hyperbilirubinemia	Always
Elevated circulating C-peptide concentration	Always
Elevated gamma-glutamyltransferase level	Always
High blood insulin levels while fasting	Always
Hyperinsulinemia	Always
Hyperinsulinemic hypoglycemia	Always
Impaired glucose tolerance	Always
Insulin resistant diabetes	Always
Recurrent low blood sugar levels	Always
Abnormal circulating C-peptide concentration	Very often (80–99%)
Low blood sugar	Very often (80–99%)
Low blood sugar when fasting	Very often (80–99%)
Noninsulin-dependent diabetes	Very often (80–99%)
Postprandial hyperglycemia	Very often (80–99%)
Hypoglycemic seizures	Often (30–79%)
Recurrent low blood sugar in infant	Often (30–79%)
Diabetic ketoacidosis	Sometimes (5–29%)
Elevated urine calcium levels	Sometimes (5–29%)
Low blood potassium levels	Sometimes (5–29%)
High blood sugar	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Coarse facial features	Always
Full lips	Always
Abnormal dentition	Often (30–79%)
Dental crowding	Often (30–79%)
Abnormally large tongue	Sometimes (5–29%)
Abnormally small head	Sometimes (5–29%)
Big lower jaw	Sometimes (5–29%)
Early eruption of teeth	Sometimes (5–29%)
Grooved tongue	Sometimes (5–29%)
Gum enlargement	Sometimes (5–29%)
High palate	Sometimes (5–29%)
Low frontal hairline	Sometimes (5–29%)
Nasal tip, upturned	Sometimes (5–29%)
Pointed chin	Sometimes (5–29%)
Prominent nasal bridge	Sometimes (5–29%)
Wide nose	Sometimes (5–29%)
Elf-like facial appearance	Not recorded
Full lower lip	Not recorded
Small face	Not recorded
Wide mouth	Not recorded

Abnormality of the integument

Trait	How often it is seen
Darkened and thickened skin	Always
Excessive hair growth	Always
Excessive hairiness	Always
Thickening of upper layer of skin	Always
Excessive hairiness over body	Very often (80–99%)
Firm lump under the skin	Very often (80–99%)
Generalized hyperpigmentation	Very often (80–99%)
Hyperkeratosis	Very often (80–99%)
Reduced fat tissue below the skin	Very often (80–99%)
Dry skin	Often (30–79%)
Increased facial hair growth	Often (30–79%)
Lichenoid skin lesion	Often (30–79%)
Onychauxis	Often (30–79%)
Thick hair	Often (30–79%)
Hyperelastic skin	Sometimes (5–29%)
Premature graying of hair	Sometimes (5–29%)
Thickened skin	Sometimes (5–29%)
Atypical nail growth	Not recorded
Hyperpigmented skin patches	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Abnormal absence of menstruation	Always
Enlarged clitoris	Always
Enlargement of the labia	Always
Medullary nephrocalcinosis	Always
Ovarian cyst	Always
Polycystic ovaries	Always
Enlarged kidney	Often (30–79%)
Enlarged ovaries	Often (30–79%)
Long penis	Often (30–79%)
Overgrowth of external genitalia	Often (30–79%)
Increased calcium level in kidney	Sometimes (5–29%)

Abnormality of the endocrine system

Trait	How often it is seen
Elevated circulating insulin:C-peptide ratio	Always
Increased circulating androgen concentration	Always
Delayed puberty	Very often (80–99%)
Increased testosterone	Often (30–79%)
Central hypothyroidism	Sometimes (5–29%)
Early onset of puberty	Sometimes (5–29%)
Elevated blood renin level	Sometimes (5–29%)
Elevated plasma aldosterone	Sometimes (5–29%)
Increased pineal volume	Sometimes (5–29%)
Underactive thyroid	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Coma caused by low blood sugar	Very often (80–99%)
Epilepsy	Often (30–79%)
Global developmental delay	Often (30–79%)
Intellectual disability	Often (30–79%)
Severe global developmental delay	Often (30–79%)
CNS demyelination	Sometimes (5–29%)
Coma	Sometimes (5–29%)
Extreme thirst	Sometimes (5–29%)
Peripheral neuropathy	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Faltering weight	Always
Growth delay as children	Always
Prenatal growth deficiency	Always
Severe prenatal growth deficiency	Very often (80–99%)
Decreased body weight	Often (30–79%)
Severe growth delay in children	Often (30–79%)
Short stature	Often (30–79%)
Small for gestational age	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Abdominal bloating	Often (30–79%)
Enlarged liver	Often (30–79%)
Rectum protrudes through anus	Often (30–79%)
Megarectum	Sometimes (5–29%)
Hepatic fibrosis	Not recorded
Pancreatic islet-cell hyperplasia	Not recorded
Slowed or blocked flow of bile from liver	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Enlarged and thickened heart muscle	Always
Left ventricular hypertrophy	Always
Increased spleen size	Often (30–79%)
An opening in the wall separating the top two chambers of the heart	Sometimes (5–29%)
Disease of the heart muscle	Sometimes (5–29%)
Hole in heart wall separating two lower heart chambers	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Advanced bone age	Very often (80–99%)
Muscle degeneration	Often (30–79%)
Delayed bone maturation	Sometimes (5–29%)
Low muscle tone in trunk	Sometimes (5–29%)
Loss of fat tissue	Not recorded

Abnormality of the ear

Trait	How often it is seen
Recurrent middle ear infection	Often (30–79%)
Large ears	Sometimes (5–29%)
Low-set ears	Sometimes (5–29%)
Prominent ear	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Large hands	Sometimes (5–29%)
Long foot	Sometimes (5–29%)
More than five fingers or toes on hands or feet	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Bulging eye	Always
Noninflammatory retina disease	Sometimes (5–29%)
Wide-set eyes	Sometimes (5–29%)

Abnormality of prenatal development or birth

Trait	How often it is seen
High levels of amniotic fluid	Always

Abnormality of the breast

Trait	How often it is seen
Prominent nipples	Always

Abnormality of the immune system

Trait	How often it is seen
Recurrent infections	Often (30–79%)

Constitutional symptom

Trait	How often it is seen
Fatigue	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 INSR and how often each is seen. Find out more at hpo.jax.org.

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