Multiple endocrine neoplasia type 2 (MEN2) is an inherited disorder in which one or more of the endocrine glands are overactive or form a tumor. Endocrine glands most commonly involved include:[1]
MEN2 is caused by a defect in the RET
MEN2 is divided into three subtypes: type 2A, type 2B, and
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
| Medical Terms | Other Names | Learn More: HPO ID |
|---|---|---|
| 80%-99% of people have these symptoms | ||
| Diarrhea |
Watery stool
|
0002014 |
| Medullary thyroid carcinoma | 0002865 | |
| 30%-79% of people have these symptoms | ||
| Abdominal pain |
Pain in stomach
Stomach pain
[ more ]
|
0002027 |
| Abnormal eyelid morphology |
Abnormality of the eyelid
Abnormality of the eyelids
[ more ]
|
0000492 |
| Abnormal oral mucosa morphology |
Abnormality of lining of mouth
|
0011830 |
| Abnormality of the tongue |
Abnormal tongue
Tongue abnormality
[ more ]
|
0000157 |
| Adrenal hyperplasia |
Enlarged adrenal glands
|
0008221 |
| Anxiety |
Excessive, persistent worry and fear
|
0000739 |
| Constipation | 0002019 | |
| Depressivity |
Depression
|
0000716 |
| 0000819 | ||
| Dry skin | 0000958 | |
| Fatigue |
Tired
Tiredness
[ more ]
|
0012378 |
| Hypertensive crisis | 0100735 | |
| Hypotension |
Low blood pressure
|
0002615 |
| Irregular hyperpigmentation | 0007400 | |
| Lymphadenopathy |
Swollen lymph nodes
|
0002716 |
| Myopathy |
Muscle tissue disease
|
0003198 |
| 0100631 | ||
| Pheochromocytoma | 0002666 | |
| Thick lower lip vermilion |
Increased volume of lower lip
Plump lower lip
Prominent lower lip
[ more ]
|
0000179 |
| 5%-29% of people have these symptoms | ||
| Abnormality of temperature regulation |
Poor temperature regulation
|
0004370 |
| Aganglionic megacolon |
Enlarged colon lacking nerve cells
|
0002251 |
| Anorexia | 0002039 | |
| Arachnodactyly |
Long slender fingers
Spider fingers
[ more ]
|
0001166 |
| Arrhythmia |
Abnormal heart rate
Heart rhythm disorders
Irregular heart beat
Irregular heartbeat
[ more ]
|
0011675 |
| Benign neoplasm of the |
0100835 | |
| Bone pain | 0002653 | |
|
Cleft roof of mouth
|
0000175 | |
| Corneal dystrophy | 0001131 | |
| Dehydration | 0001944 | |
| Ganglioneuroma | 0003005 | |
| Hypercalcemia |
High blood calcium levels
Increased calcium in blood
[ more ]
|
0003072 |
| Hyperlordosis |
Prominent swayback
|
0003307 |
| Hyperparathyroidism |
Elevated blood parathyroid hormone level
|
0000843 |
| Intestinal obstruction |
Bowel obstruction
Intestinal blockage
[ more ]
|
0005214 |
| Intestinal polyposis | 0200008 | |
| Joint hyperflexibility |
Joints move beyond expected range of motion
|
0005692 |
| Kyphosis |
Hunched back
Round back
[ more ]
|
0002808 |
| Multiple cafe-au-lait spots | 0007565 | |
| Multiple lipomas |
Multiple fatty lumps
|
0001012 |
| Muscle weakness |
Muscular weakness
|
0001324 |
| Muscular |
Low or weak muscle tone
|
0001252 |
| Nausea and vomiting | 0002017 | |
| Nephrolithiasis |
Kidney stones
|
0000787 |
| Pallor | 0000980 | |
| Paresthesia |
Pins and needles feeling
Tingling
[ more ]
|
0003401 |
| Patellar aplasia |
Absent kneecap
|
0006443 |
| Pectus excavatum |
Funnel chest
|
0000767 |
| Pedal edema |
Fluid accumulation in lower limbs
Lower leg swelling
[ more ]
|
0010741 |
| Pes cavus |
High-arched foot
|
0001761 |
| Pruritus |
Itching
Itchy skin
Skin itching
[ more ]
|
0000989 |
| Reduced consciousness/confusion |
Disturbances of consciousness
Lowered consciousness
[ more ]
|
0004372 |
| 0002650 | ||
| Skin rash | 0000988 | |
| Slender long bone |
Long bones slender
Thin long bones
[ more ]
|
0003100 |
| Tall stature |
Increased body height
|
0000098 |
| Tremor | 0001337 | |
| Weight loss | 0001824 | |
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
|
Conditions with similar signs and symptoms from Orphanet
|
|---|
|
Differential diagnoses include MTC and Hirschsprung disease (see these terms).
Visit the
Orphanet disease page
for more information.
|
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
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