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	How often it is seen
Abnormal pituitary gland morphology	Very often (80–99%)
Decreased activity of gonads	Very often (80–99%)
Decreased function of male gonad	Very often (80–99%)
Enlarged parathyroid glands	Very often (80–99%)
Female hypogonadism	Very often (80–99%)
Growth hormone excess	Very often (80–99%)
Hypogonadotropic hypogonadism	Very often (80–99%)
Increased circulating insulin-like growth factor 1 concentration	Very often (80–99%)
Parathyroid adenoma	Very often (80–99%)
Pituitary growth hormone cell adenoma	Very often (80–99%)
Premature pubic hair growth	Very often (80–99%)
Primary hyperparathyroidism	Very often (80–99%)
Adrenocortical abnormality	Often (30–79%)
Adrenocorticotropic hormone deficiency	Often (30–79%)
Adrenocorticotropin deficient adrenal insufficiency	Often (30–79%)
Central adrenal insufficiency	Often (30–79%)
Decreased circulating ACTH concentration	Often (30–79%)
Elevated gastrin in the blood	Often (30–79%)
Increased circulating prolactin concentration	Often (30–79%)
Low thyroid gland function due to abnormal pituitary gland	Often (30–79%)
Noncancerous tumor in pituitary gland	Often (30–79%)
Pituitary prolactin cell adenoma	Often (30–79%)
Secondary growth hormone deficiency	Often (30–79%)
Abnormal circulating aldosterone	Sometimes (5–29%)
Adrenocortical adenoma	Sometimes (5–29%)
Adrenocortical carcinoma	Sometimes (5–29%)
Anterior hypopituitarism	Sometimes (5–29%)
Carcinoid tumor	Sometimes (5–29%)
Delayed puberty	Sometimes (5–29%)
Enlarged thyroid gland in neck	Sometimes (5–29%)
Increased circulating cortisol level	Sometimes (5–29%)
Neoplasm of the adrenal gland	Sometimes (5–29%)
Neuroendocrine neoplasm	Sometimes (5–29%)
Pancreatic endocrine tumor	Sometimes (5–29%)
Primary hypercortisolism	Sometimes (5–29%)
Thyroid carcinoma	Sometimes (5–29%)
Glucagonoma	Rarely (1–4%)
Increased serum serotonin	Rarely (1–4%)
Parathyroid carcinoma	Rarely (1–4%)
Pheochromocytoma	Rarely (1–4%)
Pituitary corticotropic cell adenoma	Rarely (1–4%)
Pituitary gonadotropic cell adenoma	Rarely (1–4%)
Pituitary null cell adenoma	Rarely (1–4%)
Pituitary thyrotropic cell adenoma	Rarely (1–4%)
Pulmonary carcinoid tumor	Rarely (1–4%)
Thyroid adenoma	Not recorded

Abnormality of the nervous system

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

Abnormality of the digestive system

Trait	How often it is seen
Abnormality of the pancreatic islet cells	Very often (80–99%)
Abdominal pain	Often (30–79%)
Acid reflux	Often (30–79%)
Cancer of the pancreas	Often (30–79%)
Diarrhea	Often (30–79%)
Nausea and vomiting	Often (30–79%)
Sore in the lining of gastrointestinal tract	Often (30–79%)
Vomiting	Often (30–79%)
Zollinger-Ellison syndrome	Often (30–79%)
Abdominal symptom	Sometimes (5–29%)
Anorexia	Sometimes (5–29%)
Constipation	Sometimes (5–29%)
Duodenal ulcer	Sometimes (5–29%)
Insulinoma	Sometimes (5–29%)
Intestinal carcinoid	Sometimes (5–29%)
Nausea	Sometimes (5–29%)
Inflammation of the esophagus	Not recorded
Pancreatic islet cell adenoma	Not recorded

Laboratory abnormality

Trait	How often it is seen
Elevated circulating parathyroid hormone level	Very often (80–99%)
Elevated urine calcium levels	Very often (80–99%)
High blood calcium levels	Very often (80–99%)
High blood insulin levels while fasting	Very often (80–99%)
High urine phosphate levels	Very often (80–99%)
Hyperinsulinemia	Very often (80–99%)
Hyperinsulinemic hypoglycemia	Very often (80–99%)
Low blood phosphate level	Very often (80–99%)
Noninsulin-dependent diabetes	Very often (80–99%)
Nonketotic hypoglycemia	Very often (80–99%)
Recurrent low blood sugar levels	Very often (80–99%)
Low blood sugar after a meal	Often (30–79%)
Dehydration	Sometimes (5–29%)
Elevated calcitonin	Rarely (1–4%)
Low blood sugar	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Abnormal absence of menstruation	Very often (80–99%)
Abnormal erection	Very often (80–99%)
Abnormality of the menstrual cycle	Very often (80–99%)
Decreased female sex drive	Very often (80–99%)
Decreased fertility in females	Very often (80–99%)
Decreased fertility in males	Very often (80–99%)
Difficulty getting a full erection	Very often (80–99%)
Increased calcium level in kidney	Very often (80–99%)
Menstrual irregularity	Very often (80–99%)
Decreased male libido	Often (30–79%)
Dyspareunia	Often (30–79%)
Kidney stone	Sometimes (5–29%)
Renal failure	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Progressive loss of vision	Often (30–79%)
Abnormality of vision	Sometimes (5–29%)
Bitemporal hemianopia	Sometimes (5–29%)
Blindness	Sometimes (5–29%)
Double vision	Sometimes (5–29%)
Drooping upper eyelid	Sometimes (5–29%)
Hemianopia	Sometimes (5–29%)
Heteronymous hemianopia	Sometimes (5–29%)
Internal ophthalmoplegia	Sometimes (5–29%)
Oculomotor nerve palsy	Sometimes (5–29%)
Sudden decrease in vision	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Advanced bone age	Very often (80–99%)
Calcium deposits in joints	Very often (80–99%)
Generalized osteoporosis	Very often (80–99%)
Osteopenia	Very often (80–99%)
Generalized muscle weakness	Often (30–79%)
Low solidness and mass of the bones	Often (30–79%)
Multiple fatty lumps	Often (30–79%)
Osteoporosis	Often (30–79%)
Tired easily	Often (30–79%)
Breakdown of bone	Sometimes (5–29%)
Increased susceptibility to fractures	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Enlarged and thickened heart muscle	Very often (80–99%)
Left ventricular hypertrophy	Very often (80–99%)
Palpitations	Very often (80–99%)
Low blood pressure	Often (30–79%)
High blood pressure	Sometimes (5–29%)
Shortened QT interval	Sometimes (5–29%)
Thymoma	Rarely (1–4%)

Abnormality of the integument

Trait	How often it is seen
Excessive sweating	Very often (80–99%)
Abnormal hair quantity	Often (30–79%)
Large cafe-au-lait macules with irregular margins	Often (30–79%)
Paleness	Often (30–79%)
Confetti-like hypopigmented macules	Sometimes (5–29%)
Birthmark	Not recorded
Subcutaneous lipoma	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Big lower jaw	Very often (80–99%)
Coarse facial features	Very often (80–99%)
Frontal bossing	Very often (80–99%)
Gingival fibromatosis	Sometimes (5–29%)
Adenoma sebaceum	Not recorded

Growth abnormality

Trait	How often it is seen
Proportionate tall stature	Very often (80–99%)
Tall stature	Very often (80–99%)
Increased body weight	Often (30–79%)
Weight loss	Often (30–79%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Black feces	Sometimes (5–29%)
Vomiting blood	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Large hands	Very often (80–99%)
Long foot	Very often (80–99%)

Abnormality of the breast

Trait	How often it is seen
Spontaneous milk flow from breast	Very often (80–99%)
Enlarged male breast	Often (30–79%)

Abnormality of the ear

Trait	How often it is seen
Dizziness	Sometimes (5–29%)
Hearing abnormality	Sometimes (5–29%)

Constitutional symptom

Trait	How often it is seen
Impairment of activities of daily living	Very often (80–99%)
Fatigue	Often (30–79%)

Abnormal tissue mass

Trait	How often it is seen
Angiofibromas	Very often (80–99%)

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

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