Traits

Traits linked to MEN1

menin 1

The Human Phenotype Ontology links 175 traits to MEN1, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the endocrine system

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

Abnormality of the nervous system

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

Abnormality of the digestive system

Trait	나타나는 빈도
Abnormality of the pancreatic islet cells	매우 자주 (80–99%)
Abdominal pain	자주 (30–79%)
Acid reflux	자주 (30–79%)
Cancer of the pancreas	자주 (30–79%)
Diarrhea	자주 (30–79%)
Nausea and vomiting	자주 (30–79%)
Sore in the lining of gastrointestinal tract	자주 (30–79%)
Vomiting	자주 (30–79%)
Zollinger-Ellison syndrome	자주 (30–79%)
Abdominal symptom	가끔 (5–29%)
Anorexia	가끔 (5–29%)
Constipation	가끔 (5–29%)
Duodenal ulcer	가끔 (5–29%)
Insulinoma	가끔 (5–29%)
Intestinal carcinoid	가끔 (5–29%)
Nausea	가끔 (5–29%)
Inflammation of the esophagus	기록되지 않음
Pancreatic islet cell adenoma	기록되지 않음

Laboratory abnormality

Trait	나타나는 빈도
Elevated circulating parathyroid hormone level	매우 자주 (80–99%)
Elevated urine calcium levels	매우 자주 (80–99%)
High blood calcium levels	매우 자주 (80–99%)
High blood insulin levels while fasting	매우 자주 (80–99%)
High urine phosphate levels	매우 자주 (80–99%)
Hyperinsulinemia	매우 자주 (80–99%)
Hyperinsulinemic hypoglycemia	매우 자주 (80–99%)
Low blood phosphate level	매우 자주 (80–99%)
Noninsulin-dependent diabetes	매우 자주 (80–99%)
Nonketotic hypoglycemia	매우 자주 (80–99%)
Recurrent low blood sugar levels	매우 자주 (80–99%)
Low blood sugar after a meal	자주 (30–79%)
Dehydration	가끔 (5–29%)
Elevated calcitonin	드물게 (1–4%)
Low blood sugar	기록되지 않음

Abnormality of the genitourinary system

Trait	나타나는 빈도
Abnormal absence of menstruation	매우 자주 (80–99%)
Abnormal erection	매우 자주 (80–99%)
Abnormality of the menstrual cycle	매우 자주 (80–99%)
Decreased female sex drive	매우 자주 (80–99%)
Decreased fertility in females	매우 자주 (80–99%)
Decreased fertility in males	매우 자주 (80–99%)
Difficulty getting a full erection	매우 자주 (80–99%)
Increased calcium level in kidney	매우 자주 (80–99%)
Menstrual irregularity	매우 자주 (80–99%)
Decreased male libido	자주 (30–79%)
Dyspareunia	자주 (30–79%)
Kidney stone	가끔 (5–29%)
Renal failure	가끔 (5–29%)

Abnormality of the eye

Trait	나타나는 빈도
Progressive loss of vision	자주 (30–79%)
Abnormality of vision	가끔 (5–29%)
Bitemporal hemianopia	가끔 (5–29%)
Blindness	가끔 (5–29%)
Double vision	가끔 (5–29%)
Drooping upper eyelid	가끔 (5–29%)
Hemianopia	가끔 (5–29%)
Heteronymous hemianopia	가끔 (5–29%)
Internal ophthalmoplegia	가끔 (5–29%)
Oculomotor nerve palsy	가끔 (5–29%)
Sudden decrease in vision	가끔 (5–29%)

Abnormality of the musculoskeletal system

Trait	나타나는 빈도
Advanced bone age	매우 자주 (80–99%)
Calcium deposits in joints	매우 자주 (80–99%)
Generalized osteoporosis	매우 자주 (80–99%)
Osteopenia	매우 자주 (80–99%)
Generalized muscle weakness	자주 (30–79%)
Low solidness and mass of the bones	자주 (30–79%)
Multiple fatty lumps	자주 (30–79%)
Osteoporosis	자주 (30–79%)
Tired easily	자주 (30–79%)
Breakdown of bone	가끔 (5–29%)
Increased susceptibility to fractures	가끔 (5–29%)

Abnormality of the cardiovascular system

Trait	나타나는 빈도
Enlarged and thickened heart muscle	매우 자주 (80–99%)
Left ventricular hypertrophy	매우 자주 (80–99%)
Palpitations	매우 자주 (80–99%)
Low blood pressure	자주 (30–79%)
High blood pressure	가끔 (5–29%)
Shortened QT interval	가끔 (5–29%)
Thymoma	드물게 (1–4%)

Abnormality of the integument

Trait	나타나는 빈도
Excessive sweating	매우 자주 (80–99%)
Abnormal hair quantity	자주 (30–79%)
Large cafe-au-lait macules with irregular margins	자주 (30–79%)
Paleness	자주 (30–79%)
Confetti-like hypopigmented macules	가끔 (5–29%)
Birthmark	기록되지 않음
Subcutaneous lipoma	기록되지 않음

Abnormality of head or neck

Trait	나타나는 빈도
Big lower jaw	매우 자주 (80–99%)
Coarse facial features	매우 자주 (80–99%)
Frontal bossing	매우 자주 (80–99%)
Gingival fibromatosis	가끔 (5–29%)
Adenoma sebaceum	기록되지 않음

Growth abnormality

Trait	나타나는 빈도
Proportionate tall stature	매우 자주 (80–99%)
Tall stature	매우 자주 (80–99%)
Increased body weight	자주 (30–79%)
Weight loss	자주 (30–79%)

Abnormality of blood and blood-forming tissues

Trait	나타나는 빈도
Black feces	가끔 (5–29%)
Vomiting blood	가끔 (5–29%)

Abnormality of limbs

Trait	나타나는 빈도
Large hands	매우 자주 (80–99%)
Long foot	매우 자주 (80–99%)

Abnormality of the breast

Trait	나타나는 빈도
Spontaneous milk flow from breast	매우 자주 (80–99%)
Enlarged male breast	자주 (30–79%)

Abnormality of the ear

Trait	나타나는 빈도
Dizziness	가끔 (5–29%)
Hearing abnormality	가끔 (5–29%)

Constitutional symptom

Trait	나타나는 빈도
Impairment of activities of daily living	매우 자주 (80–99%)
Fatigue	자주 (30–79%)

Abnormal tissue mass

Trait	나타나는 빈도
Angiofibromas	매우 자주 (80–99%)

Human Phenotype Ontology가 기록한, 해당 유전자와 관련된 질환을 가진 사람들 가운데 이 특징이 나타나는 빈도입니다. 이 페이지는 특징과 그 바탕이 되는 연구를 설명하며, 진단이 아닙니다. 증상에 대해서는 의사나 유전 상담사에게 문의하시기 바랍니다.

출처

The Human Phenotype Ontology, release 2026-09-01: the traits linked to MEN1 and how often each is seen. Find out more at hpo.jax.org.

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