Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Angiofibromas
Very frequent (80-99%)HP:0010615
Enlarged parathyroid glands
Very frequent (80-99%)HP:0008208
Hypercalcemia
Very frequent (80-99%)HP:0003072
Impairment of activities of daily living
Very frequent (80-99%)HP:0031058
Primary hyperparathyroidism
Very frequent (80-99%)HP:0008200
Adrenocortical abnormality
Frequent (30-79%)HP:0000849
Cancer of the pancreas
Frequent (30-79%)HP:0002894
Decreased bone mineral density Z score
Frequent (30-79%)HP:0004349
Decreased male libido
Frequent (30-79%)HP:0040306
Diarrhea
Frequent (30-79%)HP:0002014
Difficulty getting an erection
Frequent (30-79%)HP:0000802
Galactorrhea
Frequent (30-79%)HP:0100829
Gastro-esophageal reflux
Frequent (30-79%)HP:0002020
Hypercalciuria
Frequent (30-79%)HP:0002150
Increased blood gastrin
Frequent (30-79%)HP:0500167
Large cafe-au-lait macules with irregular margins
Frequent (30-79%)HP:0005605
Multiple lipomas
Frequent (30-79%)HP:0001012
Pituitary adenoma
Frequent (30-79%)HP:0002893
Prolactinoma
Frequent (30-79%)HP:0006767
Sore in the lining of gastrointestinal tract
Frequent (30-79%)HP:0004398
Stomach pain
Frequent (30-79%)HP:0002027
Weight loss
Frequent (30-79%)HP:0001824
Zollinger-Ellison syndrome
Frequent (30-79%)HP:0002044
Abnormal plasma aldosterone
Occasional (5-29%)HP:0040085
ACTH-independent hypercortisolemia
Occasional (5-29%)HP:0001579
Adrenocortical adenoma
Occasional (5-29%)HP:0008256
Adrenocortical carcinoma
Occasional (5-29%)HP:0006744
Amenorrhea
Occasional (5-29%)HP:0000141
Black faeces
Occasional (5-29%)HP:0002249
Breakdown of bone
Occasional (5-29%)HP:0002797
Quick Facts
- SNOMED CT
- 30664006
- UMLS CUI
- C0025267
- Fully Specified Name
- Multiple endocrine neoplasia, type 1 (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 30
Medical Disclaimer
This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.
Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.