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	Kui sageli seda täheldatakse
Abdominal pain	Väga sageli (80–99%)
Constipation	Väga sageli (80–99%)
Enlarged colon lacking nerve cells	Väga sageli (80–99%)
Functional abnormality of the gastrointestinal tract	Väga sageli (80–99%)
Intestinal obstruction	Väga sageli (80–99%)
Nausea and vomiting	Väga sageli (80–99%)
Abdominal bloating	Sageli (30–79%)
Abnormal connection between trachea and esophagus	Sageli (30–79%)
Abnormality of the intestine	Sageli (30–79%)
Acid reflux	Sageli (30–79%)
Bilious emesis	Sageli (30–79%)
Feeding difficulties	Sageli (30–79%)
Intermittent abdominal pain	Sageli (30–79%)
Nausea	Sageli (30–79%)
Abdominal mass	Mõnikord (5–29%)
Colon perforation	Mõnikord (5–29%)
Diarrhea	Mõnikord (5–29%)
Enterocolitis	Mõnikord (5–29%)
Abnormal enteric ganglion morphology	Pole registreeritud
Colonic diverticula	Pole registreeritud
Vomiting	Pole registreeritud

Abnormality of the cardiovascular system

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

Abnormality of the nervous system

Trait	Kui sageli seda täheldatakse
Abnormal autonomic nervous system physiology	Väga sageli (80–99%)
Central sleep apnea	Väga sageli (80–99%)
Epilepsy	Sageli (30–79%)
Episodic paroxysmal anxiety	Sageli (30–79%)
Intellectual disability	Sageli (30–79%)
Recurrent paroxysmal headache	Sageli (30–79%)
Cancer of early nerve cells	Mõnikord (5–29%)
Cranial nerve compression	Mõnikord (5–29%)
Ganglioneuroma	Mõnikord (5–29%)
Headache	Mõnikord (5–29%)
Inability to move vocal cords	Mõnikord (5–29%)
Panic attack	Mõnikord (5–29%)
Tremor	Mõnikord (5–29%)
Global developmental delay	Pole registreeritud

Abnormality of the endocrine system

Trait	Kui sageli seda täheldatakse
Thyroid nodule	Alati
Adrenal pheochromocytoma	Väga sageli (80–99%)
Elevated blood parathyroid hormone level	Väga sageli (80–99%)
Extraadrenal pheochromocytoma	Väga sageli (80–99%)
Paraganglioma	Väga sageli (80–99%)
Medullary thyroid carcinoma	Sageli (30–79%)
Paraganglioma of head and neck	Sageli (30–79%)
Pheochromocytoma	Sageli (30–79%)
Enlarged parathyroid glands	Pole registreeritud
Increased circulating cortisol level	Pole registreeritud
Nodular goiter	Pole registreeritud
Parathyroid adenoma	Pole registreeritud
Thyroid C cell hyperplasia	Pole registreeritud

Laboratory abnormality

Trait	Kui sageli seda täheldatakse
Elevated calcitonin	Alati
Nonketotic hypoglycemia	Väga sageli (80–99%)
Elevated urinary dopamine	Sageli (30–79%)
Elevated urinary epinephrine level	Sageli (30–79%)
Elevated urinary norepinephrine level	Sageli (30–79%)
Elevated urinary vanillylmandelic acid	Sageli (30–79%)
High blood calcium levels	Sageli (30–79%)
High urine protein levels	Sageli (30–79%)
Blood in urine	Mõnikord (5–29%)
High blood sugar	Mõnikord (5–29%)
Cutaneous lichen amyloidosis	Pole registreeritud

Abnormality of head or neck

Trait	Kui sageli seda täheldatakse
Eye folds	Väga sageli (80–99%)
Flat nose	Väga sageli (80–99%)
Cleft palate	Mõnikord (5–29%)
Non-midline cleft of the upper lip	Mõnikord (5–29%)
Retinal capillary hemangioma	Mõnikord (5–29%)
Full lower lip	Pole registreeritud
High palate	Pole registreeritud
High, narrow palate	Pole registreeritud
Thick eyebrow	Pole registreeritud

Abnormality of the musculoskeletal system

Trait	Kui sageli seda täheldatakse
Abnormal sacrum morphology	Sageli (30–79%)
Low muscle tone	Sageli (30–79%)
Double-Jointed	Pole registreeritud
Funnel chest	Pole registreeritud
Generalized decreased muscle tone	Pole registreeritud
Hunched back	Pole registreeritud
Muscle tissue disease	Pole registreeritud
Prominent swayback	Pole registreeritud
Scoliosis	Pole registreeritud

Growth abnormality

Trait	Kui sageli seda täheldatakse
Faltering weight	Väga sageli (80–99%)
Small for gestational age	Väga sageli (80–99%)
Weight loss	Sageli (30–79%)
Faltering weight in infancy	Mõnikord (5–29%)
Growth delay	Mõnikord (5–29%)
Short stature	Mõnikord (5–29%)
Disproportionate tall stature	Pole registreeritud

Abnormality of the genitourinary system

Trait	Kui sageli seda täheldatakse
Absent kidney	Väga sageli (80–99%)
Glomerular sclerosis	Sageli (30–79%)
Urogenital fistula	Sageli (30–79%)
Abnormal morphology of female internal genitalia	Mõnikord (5–29%)
Cancer starting in small tubes in kidneys	Mõnikord (5–29%)
Renal failure	Mõnikord (5–29%)

Abnormality of prenatal development or birth

Trait	Kui sageli seda täheldatakse
Low levels of amniotic fluid	Väga sageli (80–99%)
Delayed passage of meconium	Sageli (30–79%)
Fetal polyuria	Sageli (30–79%)
High levels of amniotic fluid	Mõnikord (5–29%)
Less than 10 fetal movements in 12 hours	Mõnikord (5–29%)

Abnormality of the ear

Trait	Kui sageli seda täheldatakse
Low-set ears	Väga sageli (80–99%)
Paroxysmal vertigo	Sageli (30–79%)
Pulsatile tinnitus	Sageli (30–79%)
Conductive deafness	Mõnikord (5–29%)
Sensorineural hearing impairment	Mõnikord (5–29%)

Abnormality of the integument

Trait	Kui sageli seda täheldatakse
Flushing	Sageli (30–79%)
Sporadic excessive sweating	Sageli (30–79%)
Paleness	Mõnikord (5–29%)
Birthmark	Pole registreeritud
Excessive sweating	Pole registreeritud

Abnormality of the eye

Trait	Kui sageli seda täheldatakse
Cross-eyed	Väga sageli (80–99%)
Wide-set eyes	Väga sageli (80–99%)
Absent iris	Harva (1–4%)
Clouding of the lens of the eye at birth	Pole registreeritud

Abnormality of limbs

Trait	Kui sageli seda täheldatakse
Sirenomelia	Mõnikord (5–29%)
High-arched foot	Pole registreeritud
Slipped end part of innermost thighbone	Pole registreeritud

Abnormality of the respiratory system

Trait	Kui sageli seda täheldatakse
Breathing dysregulation	Väga sageli (80–99%)
Central hypoventilation	Väga sageli (80–99%)
Poorly developed lungs	Väga sageli (80–99%)

Constitutional symptom

Trait	Kui sageli seda täheldatakse
Chest pain	Sageli (30–79%)
Fatigue	Sageli (30–79%)

Abnormal tissue mass

Trait	Kui sageli seda täheldatakse
Abnormal tissue mass	Pole registreeritud

Abnormality of blood and blood-forming tissues

Trait	Kui sageli seda täheldatakse
Bleeding in brain	Sageli (30–79%)

Abnormality of the immune system

Trait	Kui sageli seda täheldatakse
Infection in blood stream	Mõnikord (5–29%)

Abnormality of the voice

Trait	Kui sageli seda täheldatakse
Inability to produce voice sounds	Sageli (30–79%)

Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.

Allikas

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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