| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (38.3%) |
21600320 |
A de novo 0.57 Mb microdeletion in chromosome 11q13.1 in a patient with speech problems, autistic traits, dysmorphic features and multiple endocrine neoplasia type 1. Mohrmann I, Gillessen-Kaesbach G, Siebert R, Caliebe A, Hellenbroich Y. Eur J Med Genet. 2011;54(4):e461-4. |
| Broad thumb | ||
| MEN1 NRXN2 PPP2R5B | ||
| Adult Autistic Disorder Chromosome Deletion Chromosomes, Human, Pair 11 Homo sapiens Male Multiple Endocrine Neoplasia Type 1 Phenotype Speech Disorders Young Adult | ||
| 2 (32.6%) |
23259638 (3543729) |
Functioning glucagonoma associated with primary hyperparathyroidism: multiple endocrine neoplasia type 1 or incidental association? Erdas E, Aste N, Pilloni L, Nicolosi A, Licheri S, Cappai A, Mastinu M, Cetani F, Pardi E, Mariotti S, Pomata M. BMC Cancer. 2012;12:614. |
| Glossitis Angular cheilitis | ||
| CDKN1A CDKN1B CDKN2B CDKN2C IFI27 MEN1 | ||
| Females Glucagonoma Homo sapiens Hyperparathyroidism, Primary Multiple Endocrine Neoplasia Type 1 Oxyphilic Adenoma Pancreatic Neoplasm Thyroid Neoplasm | ||
| 3 (21.2%) |
30181398 |
First report of concomitant pheochromocytoma and duodenal neuroendocrine tumour in a sporadic multiple endocrine neoplasia type 1. Motazedi B, Rahmani M, Welch JM, Motazedi A. BMJ Case Rep. 2018;2018:. |
| Osteoporosis | ||
| Adenoma Adrenal Gland Neoplasms Adrenalectomy Duodenal Neoplasms Females Homo sapiens Multiple Endocrine Neoplasia Type 1 Neuroendocrine Tumors Parathyroid Neoplasms Parathyroidectomy Pheochromocytoma Time Factors | ||
| 3 (21.2%) |
27955848 |
[Intrathyroidal location of parathyroid glands. Atypical presentation of multiple endocrine neoplasia type 1 syndrome]. de la Fuente-Bartolome M, Moreno-Bargueiras A, Osorio-Silla I, Martinez-Pueyo JI, de la Cruz-Vigo F, Gutierrez-Ashling L. Cir Cir. 2017;85 Suppl 1:68-71. |
| Osteopenia | ||
| Child Ectopic Tissue Females Forearm Homo sapiens Hyperparathyroidism, Primary Multiple Endocrine Neoplasia Type 1 Parathyroidectomy Thyroid Diseases Ultrasonography, Interventional | ||
| 3 (21.2%) |
18729310 (2615294) |
Multiple endocrine neoplasia type 1 with multiple leiomyomas linked to a novel mutation in the MEN1 gene. Choi H, Kim S, Moon JH, Lee YH, Rhee Y, Kang ES, Ahn CW, Cha BS, Lee EJ, Kim KR, Lee HC, Jeong SY, Kim HJ, Lim SK. Yonsei Med J. 2008;49(4):655-61. |
| Osteoporosis | ||
| p|SUB|D|350|V | ||
| Base Sequence Females Homo sapiens Leiomyomatosis Magnetic Resonance Imaging Middle Aged Multiple Endocrine Neoplasia Type 1 Mutation | ||
| 6 (20.4%) |
29239255 (5971513) |
Nonfunctional pancreatic endocrine tumor in the peripancreatic region in a Chinese patient with multiple endocrine neoplasia type 1. Wang BP, Tian WJ, Zhang J, Jiang CX, Qu HQ, Zhu M. J Int Med Res. 2018;46(2):908-915. |
| Accessory spleen Bone pain | ||
| MEN1 | ||
| Adult Amino Acid Substitution Bone and Bones Females Gene Expression Homo sapiens Hormone Antagonists Missense Mutation Multiple Endocrine Neoplasia Type 1 Pain Pancreatic Neoplasm Prolactinoma Proto-Oncogene Proteins X-Ray Computed Tomography | ||
| 6 (20.4%) |
12089946 |
[An unusual case of multiple endocrine neoplasia]. Luca IC, Forna N. Rev Med Chir Soc Med Nat Iasi. 2000;104(4):157-9. |
| Hyperparathyroidism Bone pain | ||
| Adult Fatal Outcome Females Homo sapiens Hyperparathyroidism Middle Aged Multiple Endocrine Neoplasia Type 1 Multiple Endocrine Neoplasia Type 2b Pregnancy Pregnancy Complications, Neoplastic Time Factors | ||
| 8 (17.5%) |
28138639 |
Metastatic multiple endocrine neoplasia type 1: report of one case. Huang C, Zhu X, Han X, Lou W. Transl Gastroenterol Hepatol. 2016;1:73. |
| Lipoma | ||
| ATRX CDK4 CHGA DAXX GAST MDM2 MEN1 SSR2 | ||
| 8 (17.5%) |
23286810 |
Angiofibromas in multiple endocrine neoplasia type 1. Vashi N, Hunt R, Fischer M, Meehan S, Pomeranz MK. Dermatol Online J. 2012;18(12):20. |
| Angiofibromas Lipoma | ||
| MEN1 | ||
| Adult Angiofibroma Chest Females Homo sapiens Multiple Endocrine Neoplasia Type 1 Nose Neoplasms Skin Neoplasms | ||
| 8 (17.5%) |
22207168 |
Carcinoma of two parathyroid glands caused by a novel MEN1 gene mutation - a rare feature of the MEN 1 syndrome. Juodel L, Serapinas D, Sabaliauskas G, Krasauskien A, Krasauskas V, Verkauskien R, Barkauskien D, Juozaityt E. Medicina (Kaunas). 2011;47(11):635-9. |
| Infertility Subcutaneous lipoma | ||
| MEN1 | ||
| c|INS|129|A | ||
| Adult Carcinoma Females Germ-Line Mutation Homo sapiens Male Multiple Endocrine Neoplasia Type 1 Proto-Oncogene Proteins |
Total: 37
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000818 | Abnormality of the endocrine system | Very frequent (99-80%) |
| HP:0000843 | Hyperparathyroidism | Very frequent (99-80%) |
| HP:0002897 | Parathyroid adenoma | Very frequent (99-80%) |
| HP:0003072 | Hypercalcemia | Very frequent (99-80%) |
| HP:0003165 | Elevated circulating parathyroid hormone level | Very frequent (99-80%) |
| HP:0008208 | Parathyroid hyperplasia | Very frequent (99-80%) |
| HP:0012091 | Abnormality of pancreas physiology | Very frequent (99-80%) |
| HP:0000825 | Hyperinsulinemic hypoglycemia | Frequent (79-30%) |
| HP:0000845 | Growth hormone excess | Frequent (79-30%) |
| HP:0000854 | Thyroid adenoma | Frequent (79-30%) |
| HP:0001012 | Multiple lipomas | Frequent (79-30%) |
| HP:0001031 | Subcutaneous lipoma | Frequent (79-30%) |
| HP:0002014 | Diarrhea | Frequent (79-30%) |
| HP:0002044 | Zollinger-Ellison syndrome | Frequent (79-30%) |
| HP:0002574 | Episodic abdominal pain | Frequent (79-30%) |
| HP:0002893 | Pituitary adenoma | Frequent (79-30%) |
| HP:0004398 | Peptic ulcer | Frequent (79-30%) |
| HP:0006767 | Pituitary prolactin cell adenoma | Frequent (79-30%) |
| HP:0008256 | Adrenocortical adenoma | Frequent (79-30%) |
| HP:0008283 | Fasting hyperinsulinemia | Frequent (79-30%) |
| HP:0010615 | Angiofibromas | Frequent (79-30%) |
| HP:0011760 | Pituitary growth hormone cell adenoma | Frequent (79-30%) |
| HP:0011761 | Pituitary null cell adenoma | Frequent (79-30%) |
| HP:0012197 | Insulinoma | Frequent (79-30%) |
| HP:0100633 | Esophagitis | Frequent (79-30%) |
| HP:0100634 | Neuroendocrine neoplasm | Frequent (79-30%) |
| HP:0001578 | None | Occasional (29-5%) |
| HP:0007449 | Confetti-like hypopigmented macules | Occasional (29-5%) |
| HP:0008291 | Pituitary corticotropic cell adenoma | Occasional (29-5%) |
| HP:0010783 | Erythema | Occasional (29-5%) |
| HP:0012030 | Increased urinary cortisol level | Occasional (29-5%) |
| HP:0012334 | Extrahepatic cholestasis | Occasional (29-5%) |
| HP:0030404 | Glucagonoma | Occasional (29-5%) |
| HP:0030688 | Increased glucagon level | Occasional (29-5%) |
| HP:0100570 | Carcinoid tumor | Occasional (29-5%) |
| HP:0006744 | Adrenocortical carcinoma | Very rare (4-1%) |
| HP:0100522 | Thymoma | Very rare (4-1%) |
Total: 41
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0008200 | Primary hyperparathyroidism | 25 |
| HP:0000843 | Hyperparathyroidism | 18 |
| HP:0100570 | Carcinoid tumor | 11 |
| HP:0002897 | Parathyroid adenoma | 8 |
| HP:0003072 | Hypercalcemia | 6 |
| HP:0008208 | Parathyroid hyperplasia | 5 |
| HP:0030405 | Pancreatic endocrine tumor | 5 |
| HP:0030731 | Carcinoma | 5 |
| HP:0500167 | Hypergastrinemia | 4 |
| HP:0010615 | Angiofibromas | 3 |
| HP:0002582 | Chronic atrophic gastritis | 2 |
| HP:0002664 | Neoplasm | 2 |
| HP:0002666 | Pheochromocytoma | 2 |
| HP:0002888 | Ependymoma | 2 |
| HP:0032252 | Granuloma | 2 |
| HP:0000802 | Impotence | 1 |
| HP:0000825 | Hyperinsulinemic hypoglycemia | 1 |
| HP:0001250 | Seizures | 1 |
| HP:0001271 | Polyneuropathy | 1 |
| HP:0001325 | Hypoglycemic coma | 1 |
| HP:0001513 | Obesity | 1 |
| HP:0001943 | Hypoglycemia | 1 |
| HP:0001946 | Ketosis | 1 |
| HP:0002013 | Vomiting | 1 |
| HP:0002014 | Diarrhea | 1 |
| HP:0002018 | Nausea | 1 |
| HP:0002140 | Ischemic stroke | 1 |
| HP:0002176 | Spinal cord compression | 1 |
| HP:0002239 | Gastrointestinal hemorrhage | 1 |
| HP:0002588 | Duodenal ulcer | 1 |
| HP:0002668 | Paraganglioma | 1 |
| HP:0002901 | Hypocalcemia | 1 |
| HP:0002902 | Hyponatremia | 1 |
| HP:0003074 | Hyperglycemia | 1 |
| HP:0003127 | Hypocalciuria | 1 |
| HP:0003761 | Calcinosis | 1 |
| HP:0004783 | Duodenal polyposis | 1 |
| HP:0008256 | Adrenocortical adenoma | 1 |
| HP:0008261 | Pancreatic islet cell adenoma | 1 |
| HP:0010514 | Hyperpituitarism | 1 |
| HP:0100733 | Neoplasm of the parathyroid gland | 1 |
Total: 5