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

Abnormality of the nervous system

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

Abnormality of the digestive system

Trait	Kui sageli seda täheldatakse
Abnormality of the pancreatic islet cells	Väga sageli (80–99%)
Abdominal pain	Sageli (30–79%)
Acid reflux	Sageli (30–79%)
Cancer of the pancreas	Sageli (30–79%)
Diarrhea	Sageli (30–79%)
Nausea and vomiting	Sageli (30–79%)
Sore in the lining of gastrointestinal tract	Sageli (30–79%)
Vomiting	Sageli (30–79%)
Zollinger-Ellison syndrome	Sageli (30–79%)
Abdominal symptom	Mõnikord (5–29%)
Anorexia	Mõnikord (5–29%)
Constipation	Mõnikord (5–29%)
Duodenal ulcer	Mõnikord (5–29%)
Insulinoma	Mõnikord (5–29%)
Intestinal carcinoid	Mõnikord (5–29%)
Nausea	Mõnikord (5–29%)
Inflammation of the esophagus	Pole registreeritud
Pancreatic islet cell adenoma	Pole registreeritud

Laboratory abnormality

Trait	Kui sageli seda täheldatakse
Elevated circulating parathyroid hormone level	Väga sageli (80–99%)
Elevated urine calcium levels	Väga sageli (80–99%)
High blood calcium levels	Väga sageli (80–99%)
High blood insulin levels while fasting	Väga sageli (80–99%)
High urine phosphate levels	Väga sageli (80–99%)
Hyperinsulinemia	Väga sageli (80–99%)
Hyperinsulinemic hypoglycemia	Väga sageli (80–99%)
Low blood phosphate level	Väga sageli (80–99%)
Noninsulin-dependent diabetes	Väga sageli (80–99%)
Nonketotic hypoglycemia	Väga sageli (80–99%)
Recurrent low blood sugar levels	Väga sageli (80–99%)
Low blood sugar after a meal	Sageli (30–79%)
Dehydration	Mõnikord (5–29%)
Elevated calcitonin	Harva (1–4%)
Low blood sugar	Pole registreeritud

Abnormality of the genitourinary system

Trait	Kui sageli seda täheldatakse
Abnormal absence of menstruation	Väga sageli (80–99%)
Abnormal erection	Väga sageli (80–99%)
Abnormality of the menstrual cycle	Väga sageli (80–99%)
Decreased female sex drive	Väga sageli (80–99%)
Decreased fertility in females	Väga sageli (80–99%)
Decreased fertility in males	Väga sageli (80–99%)
Difficulty getting a full erection	Väga sageli (80–99%)
Increased calcium level in kidney	Väga sageli (80–99%)
Menstrual irregularity	Väga sageli (80–99%)
Decreased male libido	Sageli (30–79%)
Dyspareunia	Sageli (30–79%)
Kidney stone	Mõnikord (5–29%)
Renal failure	Mõnikord (5–29%)

Abnormality of the eye

Trait	Kui sageli seda täheldatakse
Progressive loss of vision	Sageli (30–79%)
Abnormality of vision	Mõnikord (5–29%)
Bitemporal hemianopia	Mõnikord (5–29%)
Blindness	Mõnikord (5–29%)
Double vision	Mõnikord (5–29%)
Drooping upper eyelid	Mõnikord (5–29%)
Hemianopia	Mõnikord (5–29%)
Heteronymous hemianopia	Mõnikord (5–29%)
Internal ophthalmoplegia	Mõnikord (5–29%)
Oculomotor nerve palsy	Mõnikord (5–29%)
Sudden decrease in vision	Mõnikord (5–29%)

Abnormality of the musculoskeletal system

Trait	Kui sageli seda täheldatakse
Advanced bone age	Väga sageli (80–99%)
Calcium deposits in joints	Väga sageli (80–99%)
Generalized osteoporosis	Väga sageli (80–99%)
Osteopenia	Väga sageli (80–99%)
Generalized muscle weakness	Sageli (30–79%)
Low solidness and mass of the bones	Sageli (30–79%)
Multiple fatty lumps	Sageli (30–79%)
Osteoporosis	Sageli (30–79%)
Tired easily	Sageli (30–79%)
Breakdown of bone	Mõnikord (5–29%)
Increased susceptibility to fractures	Mõnikord (5–29%)

Abnormality of the cardiovascular system

Trait	Kui sageli seda täheldatakse
Enlarged and thickened heart muscle	Väga sageli (80–99%)
Left ventricular hypertrophy	Väga sageli (80–99%)
Palpitations	Väga sageli (80–99%)
Low blood pressure	Sageli (30–79%)
High blood pressure	Mõnikord (5–29%)
Shortened QT interval	Mõnikord (5–29%)
Thymoma	Harva (1–4%)

Abnormality of the integument

Trait	Kui sageli seda täheldatakse
Excessive sweating	Väga sageli (80–99%)
Abnormal hair quantity	Sageli (30–79%)
Large cafe-au-lait macules with irregular margins	Sageli (30–79%)
Paleness	Sageli (30–79%)
Confetti-like hypopigmented macules	Mõnikord (5–29%)
Birthmark	Pole registreeritud
Subcutaneous lipoma	Pole registreeritud

Abnormality of head or neck

Trait	Kui sageli seda täheldatakse
Big lower jaw	Väga sageli (80–99%)
Coarse facial features	Väga sageli (80–99%)
Frontal bossing	Väga sageli (80–99%)
Gingival fibromatosis	Mõnikord (5–29%)
Adenoma sebaceum	Pole registreeritud

Growth abnormality

Trait	Kui sageli seda täheldatakse
Proportionate tall stature	Väga sageli (80–99%)
Tall stature	Väga sageli (80–99%)
Increased body weight	Sageli (30–79%)
Weight loss	Sageli (30–79%)

Abnormality of blood and blood-forming tissues

Trait	Kui sageli seda täheldatakse
Black feces	Mõnikord (5–29%)
Vomiting blood	Mõnikord (5–29%)

Abnormality of limbs

Trait	Kui sageli seda täheldatakse
Large hands	Väga sageli (80–99%)
Long foot	Väga sageli (80–99%)

Abnormality of the breast

Trait	Kui sageli seda täheldatakse
Spontaneous milk flow from breast	Väga sageli (80–99%)
Enlarged male breast	Sageli (30–79%)

Abnormality of the ear

Trait	Kui sageli seda täheldatakse
Dizziness	Mõnikord (5–29%)
Hearing abnormality	Mõnikord (5–29%)

Constitutional symptom

Trait	Kui sageli seda täheldatakse
Impairment of activities of daily living	Väga sageli (80–99%)
Fatigue	Sageli (30–79%)

Abnormal tissue mass

Trait	Kui sageli seda täheldatakse
Angiofibromas	Väga sageli (80–99%)

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 MEN1 and how often each is seen. Find out more at hpo.jax.org.

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