Cui ne adresămȘtiința noastrăProduseRezultate
ConectareÎntrebațiSecvențiați-vă genomul↗
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.
Cui ne adresămȘtiința noastrăProduseRezultate
ConectareÎntrebațiSecvențiați-vă genomul↗
Cui ne adresămȘtiința noastrăProduseRezultate
ConectareÎntrebațiSecvențiați-vă genomul↗
Abnormality of the digestive system
| Trait | Cât de frecvent apare |
|---|---|
| Abdominal pain | Foarte des (80–99%) |
| Constipation | Foarte des (80–99%) |
| Enlarged colon lacking nerve cells | Foarte des (80–99%) |
| Functional abnormality of the gastrointestinal tract | Foarte des (80–99%) |
| Intestinal obstruction | Foarte des (80–99%) |
| Nausea and vomiting | Foarte des (80–99%) |
| Abdominal bloating | Des (30–79%) |
| Abnormal connection between trachea and esophagus | Des (30–79%) |
| Abnormality of the intestine | Des (30–79%) |
| Acid reflux | Des (30–79%) |
| Bilious emesis | Des (30–79%) |
| Feeding difficulties | Des (30–79%) |
| Intermittent abdominal pain | Des (30–79%) |
| Nausea | Des (30–79%) |
| Abdominal mass | Uneori (5–29%) |
| Colon perforation | Uneori (5–29%) |
| Diarrhea | Uneori (5–29%) |
| Enterocolitis | Uneori (5–29%) |
| Abnormal enteric ganglion morphology | Neînregistrat |
| Colonic diverticula | Neînregistrat |
| Vomiting | Neînregistrat |
Abnormality of the cardiovascular system
| Trait | Cât de frecvent apare |
|---|---|
| Abnormal cardiovascular system morphology | Des (30–79%) |
| Decrease in blood pressure upon standing up | Des (30–79%) |
| Fainting spell | Des (30–79%) |
| High blood pressure | Des (30–79%) |
| Hypertension associated with pheochromocytoma | Des (30–79%) |
| Hypertensive crisis | Des (30–79%) |
| Hypertensive retinopathy | Des (30–79%) |
| Palpitations | Des (30–79%) |
| Positive regitine blocking test | Des (30–79%) |
| Sinus tachycardia | Des (30–79%) |
| Arachnoid hemangiomatosis | Uneori (5–29%) |
| Cardiac failure | Uneori (5–29%) |
| Disease of the heart muscle | Uneori (5–29%) |
| Inflammation of heart muscle | Uneori (5–29%) |
| Elevated heart rate | Neînregistrat |
| Intermittent high blood pressure | Neînregistrat |
| Narrowing of kidney artery | Neînregistrat |
| Strawberry mark | Neînregistrat |
Abnormality of the nervous system
| Trait | Cât de frecvent apare |
|---|---|
| Abnormal autonomic nervous system physiology | Foarte des (80–99%) |
| Central sleep apnea | Foarte des (80–99%) |
| Epilepsy | Des (30–79%) |
| Episodic paroxysmal anxiety | Des (30–79%) |
| Intellectual disability | Des (30–79%) |
| Recurrent paroxysmal headache | Des (30–79%) |
| Cancer of early nerve cells | Uneori (5–29%) |
| Cranial nerve compression | Uneori (5–29%) |
| Ganglioneuroma | Uneori (5–29%) |
| Headache | Uneori (5–29%) |
| Inability to move vocal cords | Uneori (5–29%) |
| Panic attack | Uneori (5–29%) |
| Tremor | Uneori (5–29%) |
| Global developmental delay | Neînregistrat |
Abnormality of the endocrine system
| Trait | Cât de frecvent apare |
|---|---|
| Thyroid nodule | Întotdeauna |
| Adrenal pheochromocytoma | Foarte des (80–99%) |
| Elevated blood parathyroid hormone level | Foarte des (80–99%) |
| Extraadrenal pheochromocytoma | Foarte des (80–99%) |
| Paraganglioma | Foarte des (80–99%) |
| Medullary thyroid carcinoma | Des (30–79%) |
| Paraganglioma of head and neck | Des (30–79%) |
| Pheochromocytoma | Des (30–79%) |
| Enlarged parathyroid glands | Neînregistrat |
| Increased circulating cortisol level | Neînregistrat |
| Nodular goiter | Neînregistrat |
| Parathyroid adenoma | Neînregistrat |
| Thyroid C cell hyperplasia | Neînregistrat |
Laboratory abnormality
| Trait | Cât de frecvent apare |
|---|---|
| Elevated calcitonin | Întotdeauna |
| Nonketotic hypoglycemia | Foarte des (80–99%) |
| Elevated urinary dopamine | Des (30–79%) |
| Elevated urinary epinephrine level | Des (30–79%) |
| Elevated urinary norepinephrine level | Des (30–79%) |
| Elevated urinary vanillylmandelic acid | Des (30–79%) |
| High blood calcium levels | Des (30–79%) |
| High urine protein levels | Des (30–79%) |
| Blood in urine | Uneori (5–29%) |
| High blood sugar | Uneori (5–29%) |
| Cutaneous lichen amyloidosis | Neînregistrat |
Abnormality of head or neck
| Trait | Cât de frecvent apare |
|---|---|
| Eye folds | Foarte des (80–99%) |
| Flat nose | Foarte des (80–99%) |
| Cleft palate | Uneori (5–29%) |
| Non-midline cleft of the upper lip | Uneori (5–29%) |
| Retinal capillary hemangioma | Uneori (5–29%) |
| Full lower lip | Neînregistrat |
| High palate | Neînregistrat |
| High, narrow palate | Neînregistrat |
| Thick eyebrow | Neînregistrat |
Abnormality of the musculoskeletal system
| Trait | Cât de frecvent apare |
|---|---|
| Abnormal sacrum morphology | Des (30–79%) |
| Low muscle tone | Des (30–79%) |
| Double-Jointed | Neînregistrat |
| Funnel chest | Neînregistrat |
| Generalized decreased muscle tone | Neînregistrat |
| Hunched back | Neînregistrat |
| Muscle tissue disease | Neînregistrat |
| Prominent swayback | Neînregistrat |
| Scoliosis | Neînregistrat |
Growth abnormality
| Trait | Cât de frecvent apare |
|---|---|
| Faltering weight | Foarte des (80–99%) |
| Small for gestational age | Foarte des (80–99%) |
| Weight loss | Des (30–79%) |
| Faltering weight in infancy | Uneori (5–29%) |
| Growth delay | Uneori (5–29%) |
| Short stature | Uneori (5–29%) |
| Disproportionate tall stature | Neînregistrat |
Abnormality of the genitourinary system
| Trait | Cât de frecvent apare |
|---|---|
| Absent kidney | Foarte des (80–99%) |
| Glomerular sclerosis | Des (30–79%) |
| Urogenital fistula | Des (30–79%) |
| Abnormal morphology of female internal genitalia | Uneori (5–29%) |
| Cancer starting in small tubes in kidneys | Uneori (5–29%) |
| Renal failure | Uneori (5–29%) |
Abnormality of prenatal development or birth
| Trait | Cât de frecvent apare |
|---|---|
| Low levels of amniotic fluid | Foarte des (80–99%) |
| Delayed passage of meconium | Des (30–79%) |
| Fetal polyuria | Des (30–79%) |
| High levels of amniotic fluid | Uneori (5–29%) |
| Less than 10 fetal movements in 12 hours | Uneori (5–29%) |
Abnormality of the ear
| Trait | Cât de frecvent apare |
|---|---|
| Low-set ears | Foarte des (80–99%) |
| Paroxysmal vertigo | Des (30–79%) |
| Pulsatile tinnitus | Des (30–79%) |
| Conductive deafness | Uneori (5–29%) |
| Sensorineural hearing impairment | Uneori (5–29%) |
Abnormality of the integument
| Trait | Cât de frecvent apare |
|---|---|
| Flushing | Des (30–79%) |
| Sporadic excessive sweating | Des (30–79%) |
| Paleness | Uneori (5–29%) |
| Birthmark | Neînregistrat |
| Excessive sweating | Neînregistrat |
Abnormality of the eye
| Trait | Cât de frecvent apare |
|---|---|
| Cross-eyed | Foarte des (80–99%) |
| Wide-set eyes | Foarte des (80–99%) |
| Absent iris | Rar (1–4%) |
| Clouding of the lens of the eye at birth | Neînregistrat |
Abnormality of limbs
| Trait | Cât de frecvent apare |
|---|---|
| Sirenomelia | Uneori (5–29%) |
| High-arched foot | Neînregistrat |
| Slipped end part of innermost thighbone | Neînregistrat |
Abnormality of the respiratory system
| Trait | Cât de frecvent apare |
|---|---|
| Breathing dysregulation | Foarte des (80–99%) |
| Central hypoventilation | Foarte des (80–99%) |
| Poorly developed lungs | Foarte des (80–99%) |
Constitutional symptom
| Trait | Cât de frecvent apare |
|---|---|
| Chest pain | Des (30–79%) |
| Fatigue | Des (30–79%) |
Abnormal tissue mass
| Trait | Cât de frecvent apare |
|---|---|
| Abnormal tissue mass | Neînregistrat |
Abnormality of blood and blood-forming tissues
| Trait | Cât de frecvent apare |
|---|---|
| Bleeding in brain | Des (30–79%) |
Abnormality of the immune system
| Trait | Cât de frecvent apare |
|---|---|
| Infection in blood stream | Uneori (5–29%) |
Abnormality of the voice
| Trait | Cât de frecvent apare |
|---|---|
| Inability to produce voice sounds | Des (30–79%) |
Cât de frecvent apare în rândul persoanelor cu una dintre afecțiunile asociate genei, cel mai des întâlnit dintre acestea, conform Human Phenotype Ontology. Aceste pagini descriu trăsături și cercetările din spatele lor; ele nu reprezintă un diagnostic, iar pentru simptome trebuie să vă adresați medicului sau consilierului genetic.
De unde provin aceste informații
- 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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