Požymiai

Su MEN1 susiję požymiai

menin 1

Žmogaus fenotipo ontologija sieja 175 požymių su MEN1, pagal kūno sistemas: požymiai, pastebimi žmonėms, sergantiems viena iš šio geno retųjų ligų.

MEN1

Abnormality of the endocrine system

Požymis	Kaip dažnai pasireiškia
Abnormal pituitary gland morphology	Labai dažnai (80–99%)
Decreased activity of gonads	Labai dažnai (80–99%)
Decreased function of male gonad	Labai dažnai (80–99%)
Enlarged parathyroid glands	Labai dažnai (80–99%)
Female hypogonadism	Labai dažnai (80–99%)
Growth hormone excess	Labai dažnai (80–99%)
Hypogonadotropic hypogonadism	Labai dažnai (80–99%)
Increased circulating insulin-like growth factor 1 concentration	Labai dažnai (80–99%)
Parathyroid adenoma	Labai dažnai (80–99%)
Pituitary growth hormone cell adenoma	Labai dažnai (80–99%)
Premature pubic hair growth	Labai dažnai (80–99%)
Primary hyperparathyroidism	Labai dažnai (80–99%)
Adrenocortical abnormality	Dažnai (30–79%)
Adrenocorticotropic hormone deficiency	Dažnai (30–79%)
Adrenocorticotropin deficient adrenal insufficiency	Dažnai (30–79%)
Central adrenal insufficiency	Dažnai (30–79%)
Decreased circulating ACTH concentration	Dažnai (30–79%)
Elevated gastrin in the blood	Dažnai (30–79%)
Increased circulating prolactin concentration	Dažnai (30–79%)
Low thyroid gland function due to abnormal pituitary gland	Dažnai (30–79%)
Noncancerous tumor in pituitary gland	Dažnai (30–79%)
Pituitary prolactin cell adenoma	Dažnai (30–79%)
Secondary growth hormone deficiency	Dažnai (30–79%)
Abnormal circulating aldosterone	Kartais (5–29%)
Adrenocortical adenoma	Kartais (5–29%)
Adrenocortical carcinoma	Kartais (5–29%)
Anterior hypopituitarism	Kartais (5–29%)
Carcinoid tumor	Kartais (5–29%)
Delayed puberty	Kartais (5–29%)
Enlarged thyroid gland in neck	Kartais (5–29%)
Increased circulating cortisol level	Kartais (5–29%)
Neoplasm of the adrenal gland	Kartais (5–29%)
Neuroendocrine neoplasm	Kartais (5–29%)
Pancreatic endocrine tumor	Kartais (5–29%)
Primary hypercortisolism	Kartais (5–29%)
Thyroid carcinoma	Kartais (5–29%)
Glucagonoma	Retai (1–4 %)
Increased serum serotonin	Retai (1–4 %)
Parathyroid carcinoma	Retai (1–4 %)
Pheochromocytoma	Retai (1–4 %)
Pituitary corticotropic cell adenoma	Retai (1–4 %)
Pituitary gonadotropic cell adenoma	Retai (1–4 %)
Pituitary null cell adenoma	Retai (1–4 %)
Pituitary thyrotropic cell adenoma	Retai (1–4 %)
Pulmonary carcinoid tumor	Retai (1–4 %)
Thyroid adenoma	Neužfiksuota

Abnormality of the nervous system

Požymis	Kaip dažnai pasireiškia
Epilepsy	Labai dažnai (80–99%)
Transient global amnesia	Labai dažnai (80–99%)
Tremor	Labai dažnai (80–99%)
Behavioral abnormality	Dažnai (30–79%)
Disturbances of consciousness	Dažnai (30–79%)
Fluctuations in consciousness	Dažnai (30–79%)
Headache	Dažnai (30–79%)
Increased appetite	Dažnai (30–79%)
Abducens palsy	Kartais (5–29%)
Abnormal rapid eye movement sleep	Kartais (5–29%)
Abnormality of mental function	Kartais (5–29%)
Abnormality of pain sensation	Kartais (5–29%)
Anxiety	Kartais (5–29%)
Coma	Kartais (5–29%)
Confusion	Kartais (5–29%)
Cranial nerve compression	Kartais (5–29%)
Cranial nerve paralysis	Kartais (5–29%)
Decreased vigilance	Kartais (5–29%)
Depression	Kartais (5–29%)
Difficulty staying or falling asleep	Kartais (5–29%)
Fourth cranial nerve palsy	Kartais (5–29%)
Lethargy	Kartais (5–29%)
Noncancerous growth of membranes covering brain	Kartais (5–29%)
Pins and needles feeling	Kartais (5–29%)
Short attention span	Kartais (5–29%)
Atypical absence status epilepticus	Retai (1–4 %)
Ependymoma	Retai (1–4 %)

Abnormality of the digestive system

Požymis	Kaip dažnai pasireiškia
Abnormality of the pancreatic islet cells	Labai dažnai (80–99%)
Abdominal pain	Dažnai (30–79%)
Acid reflux	Dažnai (30–79%)
Cancer of the pancreas	Dažnai (30–79%)
Diarrhea	Dažnai (30–79%)
Nausea and vomiting	Dažnai (30–79%)
Sore in the lining of gastrointestinal tract	Dažnai (30–79%)
Vomiting	Dažnai (30–79%)
Zollinger-Ellison syndrome	Dažnai (30–79%)
Abdominal symptom	Kartais (5–29%)
Anorexia	Kartais (5–29%)
Constipation	Kartais (5–29%)
Duodenal ulcer	Kartais (5–29%)
Insulinoma	Kartais (5–29%)
Intestinal carcinoid	Kartais (5–29%)
Nausea	Kartais (5–29%)
Inflammation of the esophagus	Neužfiksuota
Pancreatic islet cell adenoma	Neužfiksuota

Laboratory abnormality

Požymis	Kaip dažnai pasireiškia
Elevated circulating parathyroid hormone level	Labai dažnai (80–99%)
Elevated urine calcium levels	Labai dažnai (80–99%)
High blood calcium levels	Labai dažnai (80–99%)
High blood insulin levels while fasting	Labai dažnai (80–99%)
High urine phosphate levels	Labai dažnai (80–99%)
Hyperinsulinemia	Labai dažnai (80–99%)
Hyperinsulinemic hypoglycemia	Labai dažnai (80–99%)
Low blood phosphate level	Labai dažnai (80–99%)
Noninsulin-dependent diabetes	Labai dažnai (80–99%)
Nonketotic hypoglycemia	Labai dažnai (80–99%)
Recurrent low blood sugar levels	Labai dažnai (80–99%)
Low blood sugar after a meal	Dažnai (30–79%)
Dehydration	Kartais (5–29%)
Elevated calcitonin	Retai (1–4 %)
Low blood sugar	Neužfiksuota

Abnormality of the genitourinary system

Požymis	Kaip dažnai pasireiškia
Abnormal absence of menstruation	Labai dažnai (80–99%)
Abnormal erection	Labai dažnai (80–99%)
Abnormality of the menstrual cycle	Labai dažnai (80–99%)
Decreased female sex drive	Labai dažnai (80–99%)
Decreased fertility in females	Labai dažnai (80–99%)
Decreased fertility in males	Labai dažnai (80–99%)
Difficulty getting a full erection	Labai dažnai (80–99%)
Increased calcium level in kidney	Labai dažnai (80–99%)
Menstrual irregularity	Labai dažnai (80–99%)
Decreased male libido	Dažnai (30–79%)
Dyspareunia	Dažnai (30–79%)
Kidney stone	Kartais (5–29%)
Renal failure	Kartais (5–29%)

Abnormality of the eye

Požymis	Kaip dažnai pasireiškia
Progressive loss of vision	Dažnai (30–79%)
Abnormality of vision	Kartais (5–29%)
Bitemporal hemianopia	Kartais (5–29%)
Blindness	Kartais (5–29%)
Double vision	Kartais (5–29%)
Drooping upper eyelid	Kartais (5–29%)
Hemianopia	Kartais (5–29%)
Heteronymous hemianopia	Kartais (5–29%)
Internal ophthalmoplegia	Kartais (5–29%)
Oculomotor nerve palsy	Kartais (5–29%)
Sudden decrease in vision	Kartais (5–29%)

Abnormality of the musculoskeletal system

Požymis	Kaip dažnai pasireiškia
Advanced bone age	Labai dažnai (80–99%)
Calcium deposits in joints	Labai dažnai (80–99%)
Generalized osteoporosis	Labai dažnai (80–99%)
Osteopenia	Labai dažnai (80–99%)
Generalized muscle weakness	Dažnai (30–79%)
Low solidness and mass of the bones	Dažnai (30–79%)
Multiple fatty lumps	Dažnai (30–79%)
Osteoporosis	Dažnai (30–79%)
Tired easily	Dažnai (30–79%)
Breakdown of bone	Kartais (5–29%)
Increased susceptibility to fractures	Kartais (5–29%)

Abnormality of the cardiovascular system

Požymis	Kaip dažnai pasireiškia
Enlarged and thickened heart muscle	Labai dažnai (80–99%)
Left ventricular hypertrophy	Labai dažnai (80–99%)
Palpitations	Labai dažnai (80–99%)
Low blood pressure	Dažnai (30–79%)
High blood pressure	Kartais (5–29%)
Shortened QT interval	Kartais (5–29%)
Thymoma	Retai (1–4 %)

Abnormality of the integument

Požymis	Kaip dažnai pasireiškia
Excessive sweating	Labai dažnai (80–99%)
Abnormal hair quantity	Dažnai (30–79%)
Large cafe-au-lait macules with irregular margins	Dažnai (30–79%)
Paleness	Dažnai (30–79%)
Confetti-like hypopigmented macules	Kartais (5–29%)
Birthmark	Neužfiksuota
Subcutaneous lipoma	Neužfiksuota

Abnormality of head or neck

Požymis	Kaip dažnai pasireiškia
Big lower jaw	Labai dažnai (80–99%)
Coarse facial features	Labai dažnai (80–99%)
Frontal bossing	Labai dažnai (80–99%)
Gingival fibromatosis	Kartais (5–29%)
Adenoma sebaceum	Neužfiksuota

Growth abnormality

Požymis	Kaip dažnai pasireiškia
Proportionate tall stature	Labai dažnai (80–99%)
Tall stature	Labai dažnai (80–99%)
Increased body weight	Dažnai (30–79%)
Weight loss	Dažnai (30–79%)

Abnormality of blood and blood-forming tissues

Požymis	Kaip dažnai pasireiškia
Black feces	Kartais (5–29%)
Vomiting blood	Kartais (5–29%)

Abnormality of limbs

Požymis	Kaip dažnai pasireiškia
Large hands	Labai dažnai (80–99%)
Long foot	Labai dažnai (80–99%)

Abnormality of the breast

Požymis	Kaip dažnai pasireiškia
Spontaneous milk flow from breast	Labai dažnai (80–99%)
Enlarged male breast	Dažnai (30–79%)

Abnormality of the ear

Požymis	Kaip dažnai pasireiškia
Dizziness	Kartais (5–29%)
Hearing abnormality	Kartais (5–29%)

Constitutional symptom

Požymis	Kaip dažnai pasireiškia
Impairment of activities of daily living	Labai dažnai (80–99%)
Fatigue	Dažnai (30–79%)

Abnormal tissue mass

Požymis	Kaip dažnai pasireiškia
Angiofibromas	Labai dažnai (80–99%)

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 MEN1 susiję požymiai ir kaip dažnai kiekvienas pasitaiko. Daugiau informacijos rasite adresu hpo.jax.org.

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