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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.
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Abnormality of the digestive system
| Trait | How often it is seen |
|---|---|
| Abdominal pain | Very often (80–99%) |
| Constipation | Very often (80–99%) |
| Enlarged colon lacking nerve cells | Very often (80–99%) |
| Functional abnormality of the gastrointestinal tract | Very often (80–99%) |
| Intestinal obstruction | Very often (80–99%) |
| Nausea and vomiting | Very often (80–99%) |
| Abdominal bloating | Often (30–79%) |
| Abnormal connection between trachea and esophagus | Often (30–79%) |
| Abnormality of the intestine | Often (30–79%) |
| Acid reflux | Often (30–79%) |
| Bilious emesis | Often (30–79%) |
| Feeding difficulties | Often (30–79%) |
| Intermittent abdominal pain | Often (30–79%) |
| Nausea | Often (30–79%) |
| Abdominal mass | Sometimes (5–29%) |
| Colon perforation | Sometimes (5–29%) |
| Diarrhea | Sometimes (5–29%) |
| Enterocolitis | Sometimes (5–29%) |
| Abnormal enteric ganglion morphology | Not recorded |
| Colonic diverticula | Not recorded |
| Vomiting | Not recorded |
Abnormality of the cardiovascular system
| Trait | How often it is seen |
|---|---|
| Abnormal cardiovascular system morphology | Often (30–79%) |
| Decrease in blood pressure upon standing up | Often (30–79%) |
| Fainting spell | Often (30–79%) |
| High blood pressure | Often (30–79%) |
| Hypertension associated with pheochromocytoma | Often (30–79%) |
| Hypertensive crisis | Often (30–79%) |
| Hypertensive retinopathy | Often (30–79%) |
| Palpitations | Often (30–79%) |
| Positive regitine blocking test | Often (30–79%) |
| Sinus tachycardia | Often (30–79%) |
| Arachnoid hemangiomatosis | Sometimes (5–29%) |
| Cardiac failure | Sometimes (5–29%) |
| Disease of the heart muscle | Sometimes (5–29%) |
| Inflammation of heart muscle | Sometimes (5–29%) |
| Elevated heart rate | Not recorded |
| Intermittent high blood pressure | Not recorded |
| Narrowing of kidney artery | Not recorded |
| Strawberry mark | Not recorded |
Abnormality of the nervous system
| Trait | How often it is seen |
|---|---|
| Abnormal autonomic nervous system physiology | Very often (80–99%) |
| Central sleep apnea | Very often (80–99%) |
| Epilepsy | Often (30–79%) |
| Episodic paroxysmal anxiety | Often (30–79%) |
| Intellectual disability | Often (30–79%) |
| Recurrent paroxysmal headache | Often (30–79%) |
| Cancer of early nerve cells | Sometimes (5–29%) |
| Cranial nerve compression | Sometimes (5–29%) |
| Ganglioneuroma | Sometimes (5–29%) |
| Headache | Sometimes (5–29%) |
| Inability to move vocal cords | Sometimes (5–29%) |
| Panic attack | Sometimes (5–29%) |
| Tremor | Sometimes (5–29%) |
| Global developmental delay | Not recorded |
Abnormality of the endocrine system
| Trait | How often it is seen |
|---|---|
| Thyroid nodule | Always |
| Adrenal pheochromocytoma | Very often (80–99%) |
| Elevated blood parathyroid hormone level | Very often (80–99%) |
| Extraadrenal pheochromocytoma | Very often (80–99%) |
| Paraganglioma | Very often (80–99%) |
| Medullary thyroid carcinoma | Often (30–79%) |
| Paraganglioma of head and neck | Often (30–79%) |
| Pheochromocytoma | Often (30–79%) |
| Enlarged parathyroid glands | Not recorded |
| Increased circulating cortisol level | Not recorded |
| Nodular goiter | Not recorded |
| Parathyroid adenoma | Not recorded |
| Thyroid C cell hyperplasia | Not recorded |
Laboratory abnormality
| Trait | How often it is seen |
|---|---|
| Elevated calcitonin | Always |
| Nonketotic hypoglycemia | Very often (80–99%) |
| Elevated urinary dopamine | Often (30–79%) |
| Elevated urinary epinephrine level | Often (30–79%) |
| Elevated urinary norepinephrine level | Often (30–79%) |
| Elevated urinary vanillylmandelic acid | Often (30–79%) |
| High blood calcium levels | Often (30–79%) |
| High urine protein levels | Often (30–79%) |
| Blood in urine | Sometimes (5–29%) |
| High blood sugar | Sometimes (5–29%) |
| Cutaneous lichen amyloidosis | Not recorded |
Abnormality of head or neck
| Trait | How often it is seen |
|---|---|
| Eye folds | Very often (80–99%) |
| Flat nose | Very often (80–99%) |
| Cleft palate | Sometimes (5–29%) |
| Non-midline cleft of the upper lip | Sometimes (5–29%) |
| Retinal capillary hemangioma | Sometimes (5–29%) |
| Full lower lip | Not recorded |
| High palate | Not recorded |
| High, narrow palate | Not recorded |
| Thick eyebrow | Not recorded |
Abnormality of the musculoskeletal system
| Trait | How often it is seen |
|---|---|
| Abnormal sacrum morphology | Often (30–79%) |
| Low muscle tone | Often (30–79%) |
| Double-Jointed | Not recorded |
| Funnel chest | Not recorded |
| Generalized decreased muscle tone | Not recorded |
| Hunched back | Not recorded |
| Muscle tissue disease | Not recorded |
| Prominent swayback | Not recorded |
| Scoliosis | Not recorded |
Growth abnormality
| Trait | How often it is seen |
|---|---|
| Faltering weight | Very often (80–99%) |
| Small for gestational age | Very often (80–99%) |
| Weight loss | Often (30–79%) |
| Faltering weight in infancy | Sometimes (5–29%) |
| Growth delay | Sometimes (5–29%) |
| Short stature | Sometimes (5–29%) |
| Disproportionate tall stature | Not recorded |
Abnormality of the genitourinary system
| Trait | How often it is seen |
|---|---|
| Absent kidney | Very often (80–99%) |
| Glomerular sclerosis | Often (30–79%) |
| Urogenital fistula | Often (30–79%) |
| Abnormal morphology of female internal genitalia | Sometimes (5–29%) |
| Cancer starting in small tubes in kidneys | Sometimes (5–29%) |
| Renal failure | Sometimes (5–29%) |
Abnormality of prenatal development or birth
| Trait | How often it is seen |
|---|---|
| Low levels of amniotic fluid | Very often (80–99%) |
| Delayed passage of meconium | Often (30–79%) |
| Fetal polyuria | Often (30–79%) |
| High levels of amniotic fluid | Sometimes (5–29%) |
| Less than 10 fetal movements in 12 hours | Sometimes (5–29%) |
Abnormality of the ear
| Trait | How often it is seen |
|---|---|
| Low-set ears | Very often (80–99%) |
| Paroxysmal vertigo | Often (30–79%) |
| Pulsatile tinnitus | Often (30–79%) |
| Conductive deafness | Sometimes (5–29%) |
| Sensorineural hearing impairment | Sometimes (5–29%) |
Abnormality of the integument
| Trait | How often it is seen |
|---|---|
| Flushing | Often (30–79%) |
| Sporadic excessive sweating | Often (30–79%) |
| Paleness | Sometimes (5–29%) |
| Birthmark | Not recorded |
| Excessive sweating | Not recorded |
Abnormality of the eye
| Trait | How often it is seen |
|---|---|
| Cross-eyed | Very often (80–99%) |
| Wide-set eyes | Very often (80–99%) |
| Absent iris | Rarely (1–4%) |
| Clouding of the lens of the eye at birth | Not recorded |
Abnormality of limbs
| Trait | How often it is seen |
|---|---|
| Sirenomelia | Sometimes (5–29%) |
| High-arched foot | Not recorded |
| Slipped end part of innermost thighbone | Not recorded |
Abnormality of the respiratory system
| Trait | How often it is seen |
|---|---|
| Breathing dysregulation | Very often (80–99%) |
| Central hypoventilation | Very often (80–99%) |
| Poorly developed lungs | Very often (80–99%) |
Constitutional symptom
| Trait | How often it is seen |
|---|---|
| Chest pain | Often (30–79%) |
| Fatigue | Often (30–79%) |
Abnormal tissue mass
| Trait | How often it is seen |
|---|---|
| Abnormal tissue mass | Not recorded |
Abnormality of blood and blood-forming tissues
| Trait | How often it is seen |
|---|---|
| Bleeding in brain | Often (30–79%) |
Abnormality of the immune system
| Trait | How often it is seen |
|---|---|
| Infection in blood stream | Sometimes (5–29%) |
Abnormality of the voice
| Trait | How often it is seen |
|---|---|
| Inability to produce voice sounds | 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 RET and how often each is seen. Find out more at hpo.jax.org.
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