Clinical Signs and Symptoms
ORPHA:652 Multiple endocrine neoplasia type 1
The phenotypic description of this disease is based on an analysis of the biomedical literature and uses the terms of the Human Phenotype Ontology (HPO). Phenotypic abnormalities are presented by order of frequency of occurrence in the patient population, then by alphabetical order inside each frequency group.
- Angiofibromas HP:0010615
- Hypercalcemia HP:0003072
- Impairment of activities of daily living HP:0031058
- Parathyroid hyperplasia HP:0008208
- Primary hyperparathyroidism HP:0008200
Very frequent
- Abdominal pain HP:0002027
- Adrenocortical abnormality HP:0000849
- Decreased male libido HP:0040306
- Diarrhea HP:0002014
- Galactorrhea HP:0100829
- Gastroesophageal reflux HP:0002020
- Hypercalciuria HP:0002150
- Hypergastrinemia HP:0500167
- Impotence HP:0000802
- Large cafe-au-lait macules with irregular margins HP:0005605
- Multiple lipomas HP:0001012
- Neoplasm of the pancreas HP:0002894
- Peptic ulcer HP:0004398
- Pituitary adenoma HP:0002893
- Pituitary prolactin cell adenoma HP:0006767
- Reduced bone mineral density HP:0004349
- Weight loss HP:0001824
- Zollinger-Ellison syndrome HP:0002044
Frequent
- Abnormal circulating aldosterone HP:0040085
- Adrenocortical carcinoma HP:0006744
- Amenorrhea HP:0000141
- Anorexia HP:0002039
- Carcinoid tumor HP:0100570
- Confetti-like hypopigmented macules HP:0007449
- Confusion HP:0001289
- Constipation HP:0002019
- Cranial nerve compression HP:0001293
- Decreased vigilance HP:0032044
- Dehydration HP:0001944
- Depression HP:0000716
- Duodenal ulcer HP:0002588
- Gingival fibromatosis HP:0000169
- Goiter HP:0000853
- Growth hormone excess HP:0000845
- Headache HP:0002315
- Hematemesis HP:0002248
- Hypertension HP:0000822
- Increased circulating cortisol level HP:0003118
- Increased susceptibility to fractures HP:0002659
- Insulinoma HP:0012197
- Intestinal carcinoid HP:0006723
- Lethargy HP:0001254
- Melena HP:0002249
- Meningioma HP:0002858
- Nausea HP:0002018
- Nephrolithiasis HP:0000787
- Osteolysis HP:0002797
- Pancreatic endocrine tumor HP:0030405
- Pituitary growth hormone cell adenoma HP:0011760
- Primary hypercortisolism HP:0001579
- Proportionate tall stature HP:0011407
- Short attention span HP:0000736
- Shortened QT interval HP:0012232
- Thyroid carcinoma HP:0002890
- Vomiting HP:0002013
Occasional
- Coma HP:0001259
- Elevated calcitonin HP:0003528
- Ependymoma HP:0002888
- Glucagonoma HP:0030404
- Increased serum serotonin HP:0003144
- Obtundation status HP:0011151
- Parathyroid carcinoma HP:0006780
- Pheochromocytoma HP:0002666
- Pituitary corticotropic cell adenoma HP:0008291
- Pituitary gonadotropic cell adenoma HP:0011759
- Pituitary null cell adenoma HP:0011761
- Pituitary thyrotropic cell adenoma HP:0011762
- Pulmonary carcinoid tumor HP:0030445
- Thymoma HP:0100522
Rare
Additional information
Further information
Specialised Social Services
Warning
The information provided is based on published scientific articles.
The information provided is estimated for the entire population of patients in routine care. Some phenotypic abnormalities reported here may occur individually with a variable temporality or severity, while others, not listed, may still be encountered. Phenotypic annotations are not yet available for all rare diseases; the annotation process is ongoing.
The information contained in Orphanet is regularly updated. It is possible that discoveries have been made since the last update and have not yet been incorporated.
Professionals are encouraged to always consult the latest scientific publications before making a decision based on the information provided. The information contained in Orphanet is not intended to replace the services of a healthcare professional. Orphanet cannot be held responsible for the deleterious, truncated or erroneous use of any information found in the Orphanet database.