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	나타나는 빈도
Body fails to respond to insulin	항상
Conjugated hyperbilirubinemia	항상
Elevated circulating C-peptide concentration	항상
Elevated gamma-glutamyltransferase level	항상
High blood insulin levels while fasting	항상
Hyperinsulinemia	항상
Hyperinsulinemic hypoglycemia	항상
Impaired glucose tolerance	항상
Insulin resistant diabetes	항상
Recurrent low blood sugar levels	항상
Abnormal circulating C-peptide concentration	매우 자주 (80–99%)
Low blood sugar	매우 자주 (80–99%)
Low blood sugar when fasting	매우 자주 (80–99%)
Noninsulin-dependent diabetes	매우 자주 (80–99%)
Postprandial hyperglycemia	매우 자주 (80–99%)
Hypoglycemic seizures	자주 (30–79%)
Recurrent low blood sugar in infant	자주 (30–79%)
Diabetic ketoacidosis	가끔 (5–29%)
Elevated urine calcium levels	가끔 (5–29%)
Low blood potassium levels	가끔 (5–29%)
High blood sugar	기록되지 않음

Trait	나타나는 빈도
Darkened and thickened skin	항상
Excessive hair growth	항상
Excessive hairiness	항상
Thickening of upper layer of skin	항상
Excessive hairiness over body	매우 자주 (80–99%)
Firm lump under the skin	매우 자주 (80–99%)
Generalized hyperpigmentation	매우 자주 (80–99%)
Hyperkeratosis	매우 자주 (80–99%)
Reduced fat tissue below the skin	매우 자주 (80–99%)
Dry skin	자주 (30–79%)
Increased facial hair growth	자주 (30–79%)
Lichenoid skin lesion	자주 (30–79%)
Onychauxis	자주 (30–79%)
Thick hair	자주 (30–79%)
Hyperelastic skin	가끔 (5–29%)
Premature graying of hair	가끔 (5–29%)
Thickened skin	가끔 (5–29%)
Atypical nail growth	기록되지 않음
Hyperpigmented skin patches	기록되지 않음

Trait	나타나는 빈도
Abnormal absence of menstruation	항상
Enlarged clitoris	항상
Enlargement of the labia	항상
Medullary nephrocalcinosis	항상
Ovarian cyst	항상
Polycystic ovaries	항상
Enlarged kidney	자주 (30–79%)
Enlarged ovaries	자주 (30–79%)
Long penis	자주 (30–79%)
Overgrowth of external genitalia	자주 (30–79%)
Increased calcium level in kidney	가끔 (5–29%)

Trait	나타나는 빈도
Elevated circulating insulin:C-peptide ratio	항상
Increased circulating androgen concentration	항상
Delayed puberty	매우 자주 (80–99%)
Increased testosterone	자주 (30–79%)
Central hypothyroidism	가끔 (5–29%)
Early onset of puberty	가끔 (5–29%)
Elevated blood renin level	가끔 (5–29%)
Elevated plasma aldosterone	가끔 (5–29%)
Increased pineal volume	가끔 (5–29%)
Underactive thyroid	가끔 (5–29%)

Trait	나타나는 빈도
Coma caused by low blood sugar	매우 자주 (80–99%)
Epilepsy	자주 (30–79%)
Global developmental delay	자주 (30–79%)
Intellectual disability	자주 (30–79%)
Severe global developmental delay	자주 (30–79%)
CNS demyelination	가끔 (5–29%)
Coma	가끔 (5–29%)
Extreme thirst	가끔 (5–29%)
Peripheral neuropathy	가끔 (5–29%)

Trait	나타나는 빈도
Faltering weight	항상
Growth delay as children	항상
Prenatal growth deficiency	항상
Severe prenatal growth deficiency	매우 자주 (80–99%)
Decreased body weight	자주 (30–79%)
Severe growth delay in children	자주 (30–79%)
Short stature	자주 (30–79%)
Small for gestational age	기록되지 않음

Trait	나타나는 빈도
Abdominal bloating	자주 (30–79%)
Enlarged liver	자주 (30–79%)
Rectum protrudes through anus	자주 (30–79%)
Megarectum	가끔 (5–29%)
Hepatic fibrosis	기록되지 않음
Pancreatic islet-cell hyperplasia	기록되지 않음
Slowed or blocked flow of bile from liver	기록되지 않음

Trait	나타나는 빈도
Enlarged and thickened heart muscle	항상
Left ventricular hypertrophy	항상
Increased spleen size	자주 (30–79%)
An opening in the wall separating the top two chambers of the heart	가끔 (5–29%)
Disease of the heart muscle	가끔 (5–29%)
Hole in heart wall separating two lower heart chambers	가끔 (5–29%)

Trait	나타나는 빈도
Recurrent middle ear infection	자주 (30–79%)
Large ears	가끔 (5–29%)
Low-set ears	가끔 (5–29%)
Prominent ear	가끔 (5–29%)

Trait	나타나는 빈도
Large hands	가끔 (5–29%)
Long foot	가끔 (5–29%)
More than five fingers or toes on hands or feet	가끔 (5–29%)

Trait	나타나는 빈도
Bulging eye	항상
Noninflammatory retina disease	가끔 (5–29%)
Wide-set eyes	가끔 (5–29%)

Trait	나타나는 빈도
High levels of amniotic fluid	항상

Trait	나타나는 빈도
Prominent nipples	항상

Trait	나타나는 빈도
Recurrent infections	자주 (30–79%)

Trait	나타나는 빈도
Fatigue	자주 (30–79%)

Human Phenotype Ontology가 기록한, 해당 유전자와 관련된 질환을 가진 사람들 가운데 이 특징이 나타나는 빈도입니다. 이 페이지는 특징과 그 바탕이 되는 연구를 설명하며, 진단이 아닙니다. 증상에 대해서는 의사나 유전 상담사에게 문의하시기 바랍니다.

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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