Traits

Traits linked to RET

ret proto-oncogene

The Human Phenotype Ontology links 139 traits to RET, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the digestive system

Trait	Kaip dažnai pasireiškia
Abdominal pain	Labai dažnai (80–99%)
Constipation	Labai dažnai (80–99%)
Enlarged colon lacking nerve cells	Labai dažnai (80–99%)
Functional abnormality of the gastrointestinal tract	Labai dažnai (80–99%)
Intestinal obstruction	Labai dažnai (80–99%)
Nausea and vomiting	Labai dažnai (80–99%)
Abdominal bloating	Dažnai (30–79%)
Abnormal connection between trachea and esophagus	Dažnai (30–79%)
Abnormality of the intestine	Dažnai (30–79%)
Acid reflux	Dažnai (30–79%)
Bilious emesis	Dažnai (30–79%)
Feeding difficulties	Dažnai (30–79%)
Intermittent abdominal pain	Dažnai (30–79%)
Nausea	Dažnai (30–79%)
Abdominal mass	Kartais (5–29%)
Colon perforation	Kartais (5–29%)
Diarrhea	Kartais (5–29%)
Enterocolitis	Kartais (5–29%)
Abnormal enteric ganglion morphology	Neužfiksuota
Colonic diverticula	Neužfiksuota
Vomiting	Neužfiksuota

Abnormality of the cardiovascular system

Trait	Kaip dažnai pasireiškia
Abnormal cardiovascular system morphology	Dažnai (30–79%)
Decrease in blood pressure upon standing up	Dažnai (30–79%)
Fainting spell	Dažnai (30–79%)
High blood pressure	Dažnai (30–79%)
Hypertension associated with pheochromocytoma	Dažnai (30–79%)
Hypertensive crisis	Dažnai (30–79%)
Hypertensive retinopathy	Dažnai (30–79%)
Palpitations	Dažnai (30–79%)
Positive regitine blocking test	Dažnai (30–79%)
Sinus tachycardia	Dažnai (30–79%)
Arachnoid hemangiomatosis	Kartais (5–29%)
Cardiac failure	Kartais (5–29%)
Disease of the heart muscle	Kartais (5–29%)
Inflammation of heart muscle	Kartais (5–29%)
Elevated heart rate	Neužfiksuota
Intermittent high blood pressure	Neužfiksuota
Narrowing of kidney artery	Neužfiksuota
Strawberry mark	Neužfiksuota

Abnormality of the nervous system

Trait	Kaip dažnai pasireiškia
Abnormal autonomic nervous system physiology	Labai dažnai (80–99%)
Central sleep apnea	Labai dažnai (80–99%)
Epilepsy	Dažnai (30–79%)
Episodic paroxysmal anxiety	Dažnai (30–79%)
Intellectual disability	Dažnai (30–79%)
Recurrent paroxysmal headache	Dažnai (30–79%)
Cancer of early nerve cells	Kartais (5–29%)
Cranial nerve compression	Kartais (5–29%)
Ganglioneuroma	Kartais (5–29%)
Headache	Kartais (5–29%)
Inability to move vocal cords	Kartais (5–29%)
Panic attack	Kartais (5–29%)
Tremor	Kartais (5–29%)
Global developmental delay	Neužfiksuota

Abnormality of the endocrine system

Trait	Kaip dažnai pasireiškia
Thyroid nodule	Visada
Adrenal pheochromocytoma	Labai dažnai (80–99%)
Elevated blood parathyroid hormone level	Labai dažnai (80–99%)
Extraadrenal pheochromocytoma	Labai dažnai (80–99%)
Paraganglioma	Labai dažnai (80–99%)
Medullary thyroid carcinoma	Dažnai (30–79%)
Paraganglioma of head and neck	Dažnai (30–79%)
Pheochromocytoma	Dažnai (30–79%)
Enlarged parathyroid glands	Neužfiksuota
Increased circulating cortisol level	Neužfiksuota
Nodular goiter	Neužfiksuota
Parathyroid adenoma	Neužfiksuota
Thyroid C cell hyperplasia	Neužfiksuota

Laboratory abnormality

Trait	Kaip dažnai pasireiškia
Elevated calcitonin	Visada
Nonketotic hypoglycemia	Labai dažnai (80–99%)
Elevated urinary dopamine	Dažnai (30–79%)
Elevated urinary epinephrine level	Dažnai (30–79%)
Elevated urinary norepinephrine level	Dažnai (30–79%)
Elevated urinary vanillylmandelic acid	Dažnai (30–79%)
High blood calcium levels	Dažnai (30–79%)
High urine protein levels	Dažnai (30–79%)
Blood in urine	Kartais (5–29%)
High blood sugar	Kartais (5–29%)
Cutaneous lichen amyloidosis	Neužfiksuota

Abnormality of head or neck

Trait	Kaip dažnai pasireiškia
Eye folds	Labai dažnai (80–99%)
Flat nose	Labai dažnai (80–99%)
Cleft palate	Kartais (5–29%)
Non-midline cleft of the upper lip	Kartais (5–29%)
Retinal capillary hemangioma	Kartais (5–29%)
Full lower lip	Neužfiksuota
High palate	Neužfiksuota
High, narrow palate	Neužfiksuota
Thick eyebrow	Neužfiksuota

Abnormality of the musculoskeletal system

Trait	Kaip dažnai pasireiškia
Abnormal sacrum morphology	Dažnai (30–79%)
Low muscle tone	Dažnai (30–79%)
Double-Jointed	Neužfiksuota
Funnel chest	Neužfiksuota
Generalized decreased muscle tone	Neužfiksuota
Hunched back	Neužfiksuota
Muscle tissue disease	Neužfiksuota
Prominent swayback	Neužfiksuota
Scoliosis	Neužfiksuota

Growth abnormality

Trait	Kaip dažnai pasireiškia
Faltering weight	Labai dažnai (80–99%)
Small for gestational age	Labai dažnai (80–99%)
Weight loss	Dažnai (30–79%)
Faltering weight in infancy	Kartais (5–29%)
Growth delay	Kartais (5–29%)
Short stature	Kartais (5–29%)
Disproportionate tall stature	Neužfiksuota

Abnormality of the genitourinary system

Trait	Kaip dažnai pasireiškia
Absent kidney	Labai dažnai (80–99%)
Glomerular sclerosis	Dažnai (30–79%)
Urogenital fistula	Dažnai (30–79%)
Abnormal morphology of female internal genitalia	Kartais (5–29%)
Cancer starting in small tubes in kidneys	Kartais (5–29%)
Renal failure	Kartais (5–29%)

Abnormality of prenatal development or birth

Trait	Kaip dažnai pasireiškia
Low levels of amniotic fluid	Labai dažnai (80–99%)
Delayed passage of meconium	Dažnai (30–79%)
Fetal polyuria	Dažnai (30–79%)
High levels of amniotic fluid	Kartais (5–29%)
Less than 10 fetal movements in 12 hours	Kartais (5–29%)

Abnormality of the ear

Trait	Kaip dažnai pasireiškia
Low-set ears	Labai dažnai (80–99%)
Paroxysmal vertigo	Dažnai (30–79%)
Pulsatile tinnitus	Dažnai (30–79%)
Conductive deafness	Kartais (5–29%)
Sensorineural hearing impairment	Kartais (5–29%)

Abnormality of the integument

Trait	Kaip dažnai pasireiškia
Flushing	Dažnai (30–79%)
Sporadic excessive sweating	Dažnai (30–79%)
Paleness	Kartais (5–29%)
Birthmark	Neužfiksuota
Excessive sweating	Neužfiksuota

Abnormality of the eye

Trait	Kaip dažnai pasireiškia
Cross-eyed	Labai dažnai (80–99%)
Wide-set eyes	Labai dažnai (80–99%)
Absent iris	Retai (1–4 %)
Clouding of the lens of the eye at birth	Neužfiksuota

Abnormality of limbs

Trait	Kaip dažnai pasireiškia
Sirenomelia	Kartais (5–29%)
High-arched foot	Neužfiksuota
Slipped end part of innermost thighbone	Neužfiksuota

Abnormality of the respiratory system

Trait	Kaip dažnai pasireiškia
Breathing dysregulation	Labai dažnai (80–99%)
Central hypoventilation	Labai dažnai (80–99%)
Poorly developed lungs	Labai dažnai (80–99%)

Constitutional symptom

Trait	Kaip dažnai pasireiškia
Chest pain	Dažnai (30–79%)
Fatigue	Dažnai (30–79%)

Abnormal tissue mass

Trait	Kaip dažnai pasireiškia
Abnormal tissue mass	Neužfiksuota

Abnormality of blood and blood-forming tissues

Trait	Kaip dažnai pasireiškia
Bleeding in brain	Dažnai (30–79%)

Abnormality of the immune system

Trait	Kaip dažnai pasireiškia
Infection in blood stream	Kartais (5–29%)

Abnormality of the voice

Trait	Kaip dažnai pasireiškia
Inability to produce voice sounds	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

The Human Phenotype Ontology, release 2026-09-01: the traits linked to RET and how often each is seen. Find out more at hpo.jax.org.

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