AtlasKam padedameMūsų mokslasProduktaiRezultatai
PrisijungtiKlaustiSekvenuokite savo genomą↗
Požymiai
Su INSR susiję požymiai
insulin receptor
Žmogaus fenotipo ontologija sieja 130 požymių su INSR, pagal kūno sistemas: požymiai, pastebimi žmonėms, sergantiems viena iš šio geno retųjų ligų.
AtlasKam padedameMūsų mokslasProduktaiRezultatai
PrisijungtiKlaustiSekvenuokite savo genomą↗
AtlasKam padedameMūsų mokslasProduktaiRezultatai
PrisijungtiKlaustiSekvenuokite savo genomą↗
Laboratory abnormality
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Body fails to respond to insulin | Visada |
| Conjugated hyperbilirubinemia | Visada |
| Elevated circulating C-peptide concentration | Visada |
| Elevated gamma-glutamyltransferase level | Visada |
| High blood insulin levels while fasting | Visada |
| Hyperinsulinemia | Visada |
| Hyperinsulinemic hypoglycemia | Visada |
| Impaired glucose tolerance | Visada |
| Insulin resistant diabetes | Visada |
| Recurrent low blood sugar levels | Visada |
| Abnormal circulating C-peptide concentration | Labai dažnai (80–99%) |
| Low blood sugar | Labai dažnai (80–99%) |
| Low blood sugar when fasting | Labai dažnai (80–99%) |
| Noninsulin-dependent diabetes | Labai dažnai (80–99%) |
| Postprandial hyperglycemia | Labai dažnai (80–99%) |
| Hypoglycemic seizures | Dažnai (30–79%) |
| Recurrent low blood sugar in infant | Dažnai (30–79%) |
| Diabetic ketoacidosis | Kartais (5–29%) |
| Elevated urine calcium levels | Kartais (5–29%) |
| Low blood potassium levels | Kartais (5–29%) |
| High blood sugar | Neužfiksuota |
Abnormality of head or neck
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Coarse facial features | Visada |
| Full lips | Visada |
| Abnormal dentition | Dažnai (30–79%) |
| Dental crowding | Dažnai (30–79%) |
| Abnormally large tongue | Kartais (5–29%) |
| Abnormally small head | Kartais (5–29%) |
| Big lower jaw | Kartais (5–29%) |
| Early eruption of teeth | Kartais (5–29%) |
| Grooved tongue | Kartais (5–29%) |
| Gum enlargement | Kartais (5–29%) |
| High palate | Kartais (5–29%) |
| Low frontal hairline | Kartais (5–29%) |
| Nasal tip, upturned | Kartais (5–29%) |
| Pointed chin | Kartais (5–29%) |
| Prominent nasal bridge | Kartais (5–29%) |
| Wide nose | Kartais (5–29%) |
| Elf-like facial appearance | Neužfiksuota |
| Full lower lip | Neužfiksuota |
| Small face | Neužfiksuota |
| Wide mouth | Neužfiksuota |
Abnormality of the integument
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Darkened and thickened skin | Visada |
| Excessive hair growth | Visada |
| Excessive hairiness | Visada |
| Thickening of upper layer of skin | Visada |
| Excessive hairiness over body | Labai dažnai (80–99%) |
| Firm lump under the skin | Labai dažnai (80–99%) |
| Generalized hyperpigmentation | Labai dažnai (80–99%) |
| Hyperkeratosis | Labai dažnai (80–99%) |
| Reduced fat tissue below the skin | Labai dažnai (80–99%) |
| Dry skin | Dažnai (30–79%) |
| Increased facial hair growth | Dažnai (30–79%) |
| Lichenoid skin lesion | Dažnai (30–79%) |
| Onychauxis | Dažnai (30–79%) |
| Thick hair | Dažnai (30–79%) |
| Hyperelastic skin | Kartais (5–29%) |
| Premature graying of hair | Kartais (5–29%) |
| Thickened skin | Kartais (5–29%) |
| Atypical nail growth | Neužfiksuota |
| Hyperpigmented skin patches | Neužfiksuota |
Abnormality of the genitourinary system
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Abnormal absence of menstruation | Visada |
| Enlarged clitoris | Visada |
| Enlargement of the labia | Visada |
| Medullary nephrocalcinosis | Visada |
| Ovarian cyst | Visada |
| Polycystic ovaries | Visada |
| Enlarged kidney | Dažnai (30–79%) |
| Enlarged ovaries | Dažnai (30–79%) |
| Long penis | Dažnai (30–79%) |
| Overgrowth of external genitalia | Dažnai (30–79%) |
| Increased calcium level in kidney | Kartais (5–29%) |
Abnormality of the endocrine system
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Elevated circulating insulin:C-peptide ratio | Visada |
| Increased circulating androgen concentration | Visada |
| Delayed puberty | Labai dažnai (80–99%) |
| Increased testosterone | Dažnai (30–79%) |
| Central hypothyroidism | Kartais (5–29%) |
| Early onset of puberty | Kartais (5–29%) |
| Elevated blood renin level | Kartais (5–29%) |
| Elevated plasma aldosterone | Kartais (5–29%) |
| Increased pineal volume | Kartais (5–29%) |
| Underactive thyroid | Kartais (5–29%) |
Abnormality of the nervous system
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Coma caused by low blood sugar | Labai dažnai (80–99%) |
| Epilepsy | Dažnai (30–79%) |
| Global developmental delay | Dažnai (30–79%) |
| Intellectual disability | Dažnai (30–79%) |
| Severe global developmental delay | Dažnai (30–79%) |
| CNS demyelination | Kartais (5–29%) |
| Coma | Kartais (5–29%) |
| Extreme thirst | Kartais (5–29%) |
| Peripheral neuropathy | Kartais (5–29%) |
Growth abnormality
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Faltering weight | Visada |
| Growth delay as children | Visada |
| Prenatal growth deficiency | Visada |
| Severe prenatal growth deficiency | Labai dažnai (80–99%) |
| Decreased body weight | Dažnai (30–79%) |
| Severe growth delay in children | Dažnai (30–79%) |
| Short stature | Dažnai (30–79%) |
| Small for gestational age | Neužfiksuota |
Abnormality of the digestive system
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Abdominal bloating | Dažnai (30–79%) |
| Enlarged liver | Dažnai (30–79%) |
| Rectum protrudes through anus | Dažnai (30–79%) |
| Megarectum | Kartais (5–29%) |
| Hepatic fibrosis | Neužfiksuota |
| Pancreatic islet-cell hyperplasia | Neužfiksuota |
| Slowed or blocked flow of bile from liver | Neužfiksuota |
Abnormality of the cardiovascular system
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Enlarged and thickened heart muscle | Visada |
| Left ventricular hypertrophy | Visada |
| Increased spleen size | Dažnai (30–79%) |
| An opening in the wall separating the top two chambers of the heart | Kartais (5–29%) |
| Disease of the heart muscle | Kartais (5–29%) |
| Hole in heart wall separating two lower heart chambers | Kartais (5–29%) |
Abnormality of the musculoskeletal system
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Advanced bone age | Labai dažnai (80–99%) |
| Muscle degeneration | Dažnai (30–79%) |
| Delayed bone maturation | Kartais (5–29%) |
| Low muscle tone in trunk | Kartais (5–29%) |
| Loss of fat tissue | Neužfiksuota |
Abnormality of the ear
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Recurrent middle ear infection | Dažnai (30–79%) |
| Large ears | Kartais (5–29%) |
| Low-set ears | Kartais (5–29%) |
| Prominent ear | Kartais (5–29%) |
Abnormality of limbs
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Large hands | Kartais (5–29%) |
| Long foot | Kartais (5–29%) |
| More than five fingers or toes on hands or feet | Kartais (5–29%) |
Abnormality of the eye
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Bulging eye | Visada |
| Noninflammatory retina disease | Kartais (5–29%) |
| Wide-set eyes | Kartais (5–29%) |
Abnormality of prenatal development or birth
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| High levels of amniotic fluid | Visada |
Abnormality of the breast
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Prominent nipples | Visada |
Abnormality of the immune system
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Recurrent infections | Dažnai (30–79%) |
Constitutional symptom
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Fatigue | Dažnai (30–79%) |
Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.
Iš kur tai žinoma
- Žmogaus fenotipo ontologija, 2026-09-01 leidimas: su INSR susiję požymiai ir kaip dažnai kiekvienas pasitaiko. Daugiau informacijos rasite adresu hpo.jax.org.
AtlasKam padedameMūsų mokslasProduktaiRezultatai
PrisijungtiKlaustiSekvenuokite savo genomą↗
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