MEA
MCID: MLT074
MIFTS: 55

Multiple Endocrine Neoplasia (MEA)

Categories: Cancer diseases, Endocrine diseases, Gastrointestinal diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Multiple Endocrine Neoplasia

MalaCards integrated aliases for Multiple Endocrine Neoplasia:

Name: Multiple Endocrine Neoplasia 25 58 29 54 6 71
Men 25 58
Multiple Endocrine Neoplasia Syndrome 36
Multiple Endocrine Neoplasia Type 1 71
Adenomatosis, Familial Endocrine 25
Multiple Endocrine Adenomatosis 25
Familial Endocrine Adenomatosis 25
Endocrine Neoplasia, Multiple 25
Multiple Endocrine Neoplasms 25
Mea 25

Characteristics:

Orphanet epidemiological data:

58
multiple endocrine neoplasia
Inheritance: Autosomal dominant,Not applicable; Age of onset: All ages;

Classifications:

Orphanet: 58  
Rare endocrine diseases


External Ids:

KEGG 36 H00247
ICD10 via Orphanet 33 D44.8
UMLS via Orphanet 72 C0027662
Orphanet 58 ORPHA276161
UMLS 71 C0025267 C0027662

Summaries for Multiple Endocrine Neoplasia

Genetics Home Reference : 25 Multiple endocrine neoplasia is a group of disorders that affect the body's network of hormone-producing glands called the endocrine system. Hormones are chemical messengers that travel through the bloodstream and regulate the function of cells and tissues throughout the body. Multiple endocrine neoplasia typically involves tumors (neoplasia) in at least two endocrine glands; tumors can also develop in other organs and tissues. These growths can be noncancerous (benign) or cancerous (malignant). If the tumors become cancerous, the condition can be life-threatening. The major forms of multiple endocrine neoplasia are called type 1, type 2, and type 4. These types are distinguished by the genes involved, the types of hormones made, and the characteristic signs and symptoms. Many different types of tumors are associated with multiple endocrine neoplasia. Type 1 frequently involves tumors of the parathyroid glands, the pituitary gland, and the pancreas. Tumors in these glands can lead to the overproduction of hormones. The most common sign of multiple endocrine neoplasia type 1 is overactivity of the parathyroid glands (hyperparathyroidism). Hyperparathyroidism disrupts the normal balance of calcium in the blood, which can lead to kidney stones, thinning of bones, nausea and vomiting, high blood pressure (hypertension), weakness, and fatigue. The most common sign of multiple endocrine neoplasia type 2 is a form of thyroid cancer called medullary thyroid carcinoma. Some people with this disorder also develop a pheochromocytoma, which is an adrenal gland tumor that can cause dangerously high blood pressure. Multiple endocrine neoplasia type 2 is divided into three subtypes: type 2A, type 2B (formerly called type 3), and familial medullary thyroid carcinoma (FMTC). These subtypes differ in their characteristic signs and symptoms and risk of specific tumors; for example, hyperparathyroidism occurs only in type 2A, and medullary thyroid carcinoma is the only feature of FMTC. The signs and symptoms of multiple endocrine neoplasia type 2 are relatively consistent within any one family. Multiple endocrine neoplasia type 4 appears to have signs and symptoms similar to those of type 1, although it is caused by mutations in a different gene. Hyperparathyroidism is the most common feature, followed by tumors of the pituitary gland, additional endocrine glands, and other organs.

MalaCards based summary : Multiple Endocrine Neoplasia, also known as men, is related to multiple endocrine neoplasia, type iv and multiple endocrine neoplasia, type iib, and has symptoms including diarrhea An important gene associated with Multiple Endocrine Neoplasia is RET (Ret Proto-Oncogene), and among its related pathways/superpathways is Signaling events regulated by Ret tyrosine kinase. The drugs Dexlansoprazole and Lansoprazole have been mentioned in the context of this disorder. Affiliated tissues include thyroid, pituitary and pancreas, and related phenotypes are Decreased viability and Decreased viability

KEGG : 36 Multiple endocrine neoplasias (MEN) are autosomal dominant syndrome which is characterized by the occurrence of tumors involving two or more endocrine glands. Four major forms of MEN are recognized, namely MEN1, MEN2A, MEN2B and MEN4. MEN1, which is also referred as Wermer's syndrome, is characterized by parathyroid adenoma, gastrinoma, and pituitary adenoma. Gastrinomas are the most common type, leading to the Zollinger-Ellison Syndrome (see H01522). MEN2 are characterized by medullary thyroid cancer (MTC) and includes three subtypes: MEN2A (Sipple's syndrome), MEN2B (MEN3) and familial MTC. MEN2A develop MTC in association with phaeochromocytoma and parathyroid tumors. MEN2B develop MTC in association with marfanoid habitus, mucosal neuromas, medullated corneal fibers and intestinal autonomic ganglion dysfunction, leading to megacolon. MEN4, also referred to as MENX, appears to have signs and symptoms similar to those of type 1. However MEN4 patients have mutations in other genes. The mutations in their responsible genes are found in Each MEN syndrome.

Wikipedia : 74 The term multiple endocrine neoplasia encompasses several distinct syndromes featuring tumors of... more...

Related Diseases for Multiple Endocrine Neoplasia

Diseases in the Multiple Endocrine Neoplasia family:

Multiple Endocrine Neoplasia, Type I Multiple Endocrine Neoplasia, Type Iib
Multiple Endocrine Neoplasia, Type Iia Multiple Endocrine Neoplasia, Type Iv

Diseases related to Multiple Endocrine Neoplasia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 484)
# Related Disease Score Top Affiliating Genes
1 multiple endocrine neoplasia, type iv 34.3 RET PRKAR1A MEN1 CDKN1B
2 multiple endocrine neoplasia, type iib 33.5 SDHB RET MEN1 GDNF CALCA
3 islet cell tumor 33.0 RET MEN1 CALCA
4 pancreatic cholera 32.9 MEN1 CALCA
5 vipoma 32.7 MEN1 CALCA
6 acth-secreting pituitary adenoma 32.6 PRKAR1A MEN1
7 pituitary adenoma 32.6 PRKAR1A MEN1 CDKN1B
8 familial isolated pituitary adenoma 32.5 MEN1 CNC2 CDKN1B
9 acromegaly 32.2 PRKAR1A MEN1 CNC2
10 multiple endocrine neoplasia, type iia 32.0 VHL SDHC SDHB RET MEN1 GDNF
11 thyroid carcinoma 32.0 RET NEAT1 CALCA
12 adrenal carcinoma 31.9 SDHB PRKAR1A MEN1
13 thyroid carcinoma, familial medullary 31.5 VHL RET PRKAR1A MEN1 GDNF CALCA
14 thyroid gland medullary carcinoma 31.4 RET MEN1 GDNF CALCA
15 neuroendocrine tumor 31.4 VHL SDHB RET MEN1 CALCA
16 multiple endocrine neoplasia, type i 31.4 VHL SDHC SDHB RET PRKAR1A MEN1
17 pituitary tumors 31.2 MEN1 CNC2
18 hereditary paraganglioma-pheochromocytoma syndromes 31.1 VHL SDHC SDHB RET GDNF
19 adenoma 31.1 VHL RET PRKAR1A MEN1
20 hyperparathyroidism 31.1 RET PRKAR1A MEN1 CDKN1B CALCA
21 neuroma 31.0 RET GDNF CALCA
22 primary hyperparathyroidism 30.8 RET PRKAR1A MEN1 CDKN1B CALCA
23 hypoparathyroidism 30.8 RET PRKAR1A CALCA
24 carcinoid syndrome 30.8 MEN1 CALCA
25 parathyroid carcinoma 30.7 RET MEN1 CALCA
26 constipation 30.6 RET GDNF CALCA
27 pheochromocytoma 30.5 VHL SDHC SDHB RET MEN1 GDNF
28 familial hypocalciuric hypercalcemia 30.5 RET MEN1
29 parathyroid adenoma 30.4 RET PRKAR1A MEN1 CDKN1B CALCA
30 hyperparathyroidism 2 with jaw tumors 30.3 RET MEN1
31 somatostatinoma 30.3 MEN1 CALCA
32 hirschsprung disease 1 30.2 RET GDNF CALCA
33 parathyroid gland disease 30.1 RET MEN1 CALCA
34 medullary sponge kidney 30.1 RET GDNF
35 conn's syndrome 30.0 PRKAR1A MEN1 CNC2
36 hormone producing pituitary cancer 30.0 PRKAR1A MEN1
37 hemangioma 30.0 VHL RET MEN1
38 functioning pituitary adenoma 29.9 PRKAR1A MEN1
39 ectopic thymus 29.9 CNC2 CALCA
40 hyperpituitarism 29.9 PRKAR1A MEN1
41 meningioma, familial 29.9 RET PRKAR1A MEN1
42 multiple mucosal neuroma 29.8 RET MEN1 GDNF CALCA
43 carney complex variant 29.7 RET PRKAR1A MEN1 CNC2 CDKN1B
44 primary pigmented nodular adrenocortical disease 29.7 PRKAR1A MEN1 CNC2
45 melanocytic nevus syndrome, congenital 29.6 PRKAR1A CNC2
46 malignant pheochromocytoma 29.5 SDHB CALCA
47 extra-adrenal pheochromocytoma 29.5 SDHC SDHB RET
48 paraganglioma and gastric stromal sarcoma 29.4 SDHC SDHB
49 thyroid gland follicular carcinoma 29.4 RET MEN1 GDNF CALCA
50 carney triad 29.4 SDHC SDHB

Graphical network of the top 20 diseases related to Multiple Endocrine Neoplasia:



Diseases related to Multiple Endocrine Neoplasia

Symptoms & Phenotypes for Multiple Endocrine Neoplasia

UMLS symptoms related to Multiple Endocrine Neoplasia:


diarrhea

GenomeRNAi Phenotypes related to Multiple Endocrine Neoplasia according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 9.55 CDKN1B PRKAR1A RET VHL
2 Decreased viability GR00221-A-2 9.55 PRKAR1A RET VHL
3 Decreased viability GR00221-A-3 9.55 PRKAR1A
4 Decreased viability GR00221-A-4 9.55 PRKAR1A RET
5 Decreased viability GR00231-A 9.55 RET
6 Decreased viability GR00301-A 9.55 RET VHL
7 Decreased viability GR00402-S-2 9.55 CDKN1B PRKAR1A RET VHL

MGI Mouse Phenotypes related to Multiple Endocrine Neoplasia:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.98 CDKN1B DPF2 GDNF MEN1 PRKAR1A RET
2 endocrine/exocrine gland MP:0005379 9.97 CDKN1B DPF2 GDNF MEN1 PRKAR1A RET
3 mortality/aging MP:0010768 9.97 CDKN1B DPF2 GDNF MEN1 PRKAR1A RET
4 digestive/alimentary MP:0005381 9.88 CDKN1B GDNF MEN1 PRKAR1A RET VHL
5 muscle MP:0005369 9.73 CDKN1B GDNF MEN1 PRKAR1A RET VHL
6 neoplasm MP:0002006 9.63 CDKN1B MEN1 PRKAR1A RET SDHB VHL
7 renal/urinary system MP:0005367 9.43 CDKN1B DPF2 GDNF RET SDHB VHL
8 reproductive system MP:0005389 9.17 CDKN1B DPF2 GDNF MEN1 PRKAR1A RET

Drugs & Therapeutics for Multiple Endocrine Neoplasia

Drugs for Multiple Endocrine Neoplasia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 79)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dexlansoprazole Approved, Investigational Phase 4 138530-94-6, 103577-45-3 9578005
2
Lansoprazole Approved, Investigational Phase 4 103577-45-3 3883
3
Doxazosin Approved Phase 4 74191-85-8 3157
4
Phenoxybenzamine Approved Phase 4 59-96-1 4768
5 Anti-Ulcer Agents Phase 4
6 Antacids Phase 4
7 Proton Pump Inhibitors Phase 4
8 Adrenergic Antagonists Phase 4
9 Neurotransmitter Agents Phase 4
10 Adrenergic alpha-Antagonists Phase 4
11 Vasodilator Agents Phase 4
12 Adrenergic Agents Phase 4
13 Antihypertensive Agents Phase 4
14
Cinacalcet Approved Phase 3 226256-56-0 156419
15
Glucagon Approved Phase 3 16941-32-5
16
Somatostatin Approved, Investigational Phase 3 51110-01-1, 38916-34-6 53481605
17 Calcimimetic Agents Phase 3
18 Glucagon-Like Peptide 1 Phase 3
19 insulin Phase 3
20 Insulin, Globin Zinc Phase 3
21 Hormone Antagonists Phase 3
22 Hormones Phase 3
23
Octreotide Approved, Investigational Phase 2 83150-76-9 6400441 383414
24
Pancrelipase Approved, Investigational Phase 2 53608-75-6
25
Sunitinib Approved, Investigational Phase 2 557795-19-4, 341031-54-7 5329102
26
Everolimus Approved Phase 2 159351-69-6 6442177 70789204
27
Sirolimus Approved, Investigational Phase 2 53123-88-9 5284616 6436030 46835353
28
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
29
Lenvatinib Approved, Investigational Phase 2 417716-92-8
30
Liraglutide Approved Phase 2 204656-20-2 44147092
31
Sorafenib Approved, Investigational Phase 2 284461-73-0 216239 406563
32
Pertuzumab Approved Phase 2 145040-37-5, 380610-27-5 2540
33 Gastrointestinal Agents Phase 2
34 Antineoplastic Agents, Hormonal Phase 2
35 Mitogens Phase 2
36 Endothelial Growth Factors Phase 2
37 Angiogenesis Inhibitors Phase 2
38 pancreatin Phase 2
39 Immunologic Factors Phase 2
40 Anti-Infective Agents Phase 2
41 Antifungal Agents Phase 2
42 Antibiotics, Antitubercular Phase 2
43 Immunosuppressive Agents Phase 2
44 Anti-Bacterial Agents Phase 2
45 Hypoglycemic Agents Phase 2
46 Incretins Phase 2
47 Protein Kinase Inhibitors Phase 2
48 Antineoplastic Agents, Immunological Phase 2
49
Erlotinib Hydrochloride Phase 2 183319-69-9 176871
50 Rho(D) Immune Globulin Phase 1

Interventional clinical trials:

(show all 43)
# Name Status NCT ID Phase Drugs
1 Long-Term Study of the Efficacy and Safety of Lansoprazole in the Treatment of Zollinger-Ellison and Other Acid Hypersecretors Completed NCT00204373 Phase 4 Lansoprazole (Prevacid)
2 Pheochromocytoma Randomised Study Comparing Adrenoreceptor Inhibiting Agents for Preoperative Treatment Completed NCT01379898 Phase 4 Phenoxybenzamine;Doxazosin
3 Cinacalcet Actions in Familial Primary Hyperparathyroidism Completed NCT00325104 Phase 3
4 Liraglutide in the Treatment of Type 1 Diabetes Mellitus Completed NCT01722266 Phase 3 Liraglutide;Placebo
5 Non-functioning Pancreatic Neuroendocrine Tumors (NF-pNETs) in Multiple Endocrine Neoplasia Type 1 (MEN1) Treated With Somatostatin Analogs (SA) Versus NO Treatment - a Prospective, Randomized, Controlled Multicenter Study Not yet recruiting NCT02705651 Phase 3 Somatostatin-Analog
6 Perfusion CT as Predictive Biomarker in a Phase II Study of Ziv-Aflibercept in Patients With Advanced Pancreatic Neuroendocrine Tumors Completed NCT02101918 Phase 2
7 A Phase 2 Study of GW786034 (Pazopanib) in Advanced Low-Grade or Intermediate-Grade Neuroendocrine Carcinoma Completed NCT00454363 Phase 2 Pazopanib Hydrochloride
8 Evaluation of (68)Gallium- DOTATATE PET/CT for Detecting Primary and Metastatic Neuroendocrine Tumors Completed NCT01967537 Phase 2 68Gallium DOTATATE
9 A Phase II Trial of Mutation-Targeted Therapy With Sunitinib or Everolimus in Patients With Advanced Low-or Intermediate Grade Neuroendocrine Tumors of the Gastrointestinal Tract and Pancreas With or Without Cytoreductive Surgery Completed NCT02315625 Phase 2 Sunitinib;Everolimus
10 Efficacy and Safety of High Dose Regimen of Octreotide LAR in Patients With Neuroendocrine Tumors in Progressive Disease: A Phase II, Open, Multicentric Prospective Study Completed NCT00990535 Phase 2 Octreotide-LAR
11 A Phase II Study of Lenvatinib in Combination With Everolimus in Patients With Advanced Carcinoid Tumors Recruiting NCT03950609 Phase 2 Everolimus;Lenvatinib
12 A Randomized, Placebo-Controlled Study of Liraglutide 3mg Daily (Saxenda®) in Obese or Overweight Patients With Stable Bipolar Disorder Recruiting NCT03158805 Phase 2 LIRAGLUTIDE
13 Phase II Study of Sorafenib (BAY 43-9006) in Patients With Metastatic Medullary Thyroid Carcinoma Active, not recruiting NCT00390325 Phase 2 Sorafenib;Sorafenib Tosylate
14 Phase I/II Trial of Vandetanib (ZD6474, ZACTIMA) in Children and Adolescents With Hereditary Medullary Thyroid Carcinoma Active, not recruiting NCT00514046 Phase 1, Phase 2 Vandetanib
15 A Phase II Study of Pertuzumab and Erlotinib for Metastatic or Unresectable Neuroendocrine Tumors Terminated NCT00947167 Phase 2 pertuzumab;erlotinib
16 The Efficacy of High-Dose Intravenous Immunoglobulin Therapy in Patients With Stiff-Man Syndrome: A Double-Blind, Placebo-Controlled Trial Completed NCT00001550 Phase 1 IVIg
17 A Phase 1 Study of Veliparib (ABT-888) in Combination With Capecitabine and Temozolomide in Advanced Well-Differentiated Neuroendocrine Tumors Withdrawn NCT02831179 Phase 1 Capecitabine;Temozolomide;Veliparib
18 Investigation of Prevalence and Clinical Effects of Aryl Hydrocarbon Receptor Interacting Protein (AIP) Gene Mutations With DNA Sequence Analysis in Acromegaly Patients in Turkey Unknown status NCT01902420
19 A Pilot Study to Investigate Germ-Line MEN1 and SDHD Gene Mutation in Familial Cases of Carcinoid Cancer Unknown status NCT00672269
20 An Investigation of Eight Reported Cases of Small Intestinal Carcinoid Carcinoma in Multiple Family Members Unknown status NCT00662168
21 Transcriptional and Translational Regulation of Vitamin D Receptor (VDR) and Calcium Sensing Receptor (CaSR) in Patients With Sporadic Primary Hyperparathyroidism Unknown status NCT01228786
22 A Pilot Study of Genetic Evaluation of Families With Endocrine Cancers Completed NCT01794676
23 Genetic Polymorphisms Associated With Histamine Disposition in Children With Vancomycin Associated Red Man Syndrome (RMS) Completed NCT00824122
24 Study of Molecular Pathways in Medullary Thyroid Carcinoma (MTC) and Correlation of Molecular Data With Clinical Behavior of the MTC in Individuals Patients Completed NCT01424878
25 Assessing Quality of Life Tools in Medullary Thyroid Cancer Patients Completed NCT02465424
26 Study and Follow-up of Multiple Endocrine Neoplasia Type 1 Recruiting NCT03348501
27 Coordination of Rare Diseases at Sanford Recruiting NCT01793168
28 Metabolomics and Genetic Diagnosing Pancreatic Neuroendocrine Tumors in Multiple Endocrine Neoplasia Type 1 Patients Recruiting NCT03048266
29 Family Studies in Metabolic Diseases and Mineral Metabolism Recruiting NCT00001345
30 Type 1 Multiple Endocrine Neoplasia : a Cohort Study of the Endocrine Tumor Study Group (GTE) Recruiting NCT03262129
31 Registry for Multiple Endocrine Neoplasia Syndromes: MEN1/MEN2 Recruiting NCT03048279
32 Studies of Hyperparathyroidism and Related Disorders Recruiting NCT00001277
33 Familial Investigations of Childhood Cancer Predisposition Recruiting NCT03050268
34 Variables That Are Correlated to Developing Multiple Endocrine Neoplasia (MEN) and Pancreatic Neuroendocrine Tumors (PNET) Recruiting NCT03053999
35 Longitudinal Assessment and Natural History Study of Children and Adults With MEN2A or MEN2B With or Without Medullary Thyroid Carcinoma Recruiting NCT01660984
36 Diagnostic Value of 18F-Fluorocholine PET/CT for the Detection of Medullary Thyroid Cancer Recruiting NCT03643055
37 Impact of a Physical Rehabilitation Program on the Quality of Life of Patients With Acromegaly: a Non-randomized Clinical Trial. Recruiting NCT03710499
38 An Expanded Access Imaging of Neuroendocrine Tumors Using 68Ga-DOTA-TOC Active, not recruiting NCT03001349 Early Phase 1 Gallium Ga 68-Edotreotide
39 Overall and Disease Specific Survival in Patients With Confirmed MEN1 With or Without PNET (Pancreatic Neuroendocrine Tumors) Active, not recruiting NCT03043508
40 Psychosocial Aspects of Multiple Endocrine Neoplasia (MEN) Syndromes Active, not recruiting NCT00501449
41 Study and Monitoring of Multiple Endocrine Neoplasia Type 1 Not yet recruiting NCT03966612
42 Epidemiology of Pituitary Tumours: Prevalence of Associated Endocrine and Non-endocrine Tumours and Potential Implications in the Management and Follow-up of Patients" Not yet recruiting NCT03973450
43 The Master Registry of Oncology Outcomes Associated With Testing and Treatment (ROOT) Not yet recruiting NCT04028479 Treatment: CAR-T

Search NIH Clinical Center for Multiple Endocrine Neoplasia

Genetic Tests for Multiple Endocrine Neoplasia

Genetic tests related to Multiple Endocrine Neoplasia:

# Genetic test Affiliating Genes
1 Multiple Endocrine Neoplasia 29

Anatomical Context for Multiple Endocrine Neoplasia

MalaCards organs/tissues related to Multiple Endocrine Neoplasia:

40
Thyroid, Pituitary, Pancreas, Testes, Bone, Adrenal Gland, Kidney

Publications for Multiple Endocrine Neoplasia

Articles related to Multiple Endocrine Neoplasia:

(show top 50) (show all 5256)
# Title Authors PMID Year
1
Molecular genetics and phenomics of RET mutations: Impact on prognosis of MTC. 61 54
20083156 2010
2
The tumor suppressor parafibromin is required for posttranscriptional processing of histone mRNA. 61 54
19908240 2010
3
Denaturing high performance liquid chromatography detection of SDHB, SDHD, and VHL germline mutations in pheochromocytoma. 61 54
19215943 2009
4
An immunohistochemical procedure to detect patients with paraganglioma and phaeochromocytoma with germline SDHB, SDHC, or SDHD gene mutations: a retrospective and prospective analysis. 61 54
19576851 2009
5
SDH mutations in tumorigenesis and inherited endocrine tumours: lesson from the phaeochromocytoma-paraganglioma syndromes. 54 61
19522823 2009
6
Identification and prevention of genotyping errors caused by G-quadruplex- and i-motif-like sequences. 61 54
19406917 2009
7
Use of mouse models to understand the molecular basis of tissue-specific tumorigenesis in the Carney complex. 61 54
19522826 2009
8
Head and neck paragangliomas in von Hippel-Lindau disease and multiple endocrine neoplasia type 2. 54 61
19336503 2009
9
Multiple endocrine neoplasia type 2 RET protooncogene database: repository of MEN2-associated RET sequence variation and reference for genotype/phenotype correlations. 61 54
19177457 2009
10
Assessment of p27 (cyclin-dependent kinase inhibitor 1B) and aryl hydrocarbon receptor-interacting protein (AIP) genes in multiple endocrine neoplasia (MEN1) syndrome patients without any detectable MEN1 gene mutations. 61 54
18710468 2009
11
Hypercalcitoninemia is not pathognomonic of medullary thyroid carcinoma. 54 61
19606248 2009
12
Menin, histone h3 methyltransferases, and regulation of cell proliferation: current knowledge and perspective. 61 54
19075677 2008
13
Possible association between Carney complex and multiple endocrine neoplasia type 1 phenotypes. 61 54
19169494 2008
14
A novel PRKAR1A mutation associated with hepatocellular carcinoma in a young patient and a variable Carney complex phenotype in affected subjects in older generations. 61 54
18445140 2008
15
Mutational analysis of CDKN1B, a candidate tumor-suppressor gene, in refractory secondary/tertiary hyperparathyroidism. 61 54
18288099 2008
16
Cell lineage-specific interactions between Men1 and Rb in neuroendocrine neoplasia. 54 61
17893233 2008
17
Inherited cancer predisposition syndromes in Greece. 54 61
18505076 2008
18
A novel RET kinase-beta-catenin signaling pathway contributes to tumorigenesis in thyroid carcinoma. 54 61
18316596 2008
19
RET proto-oncogene testing in infants presenting with Hirschsprung disease identifies 2 new multiple endocrine neoplasia 2A kindreds. 54 61
18206480 2008
20
Screening of RET gene mutations in multiple endocrine neoplasia type-2 using conformation sensitive gel electrophoresis (CSGE). 54 61
18209889 2007
21
Chromogranin a expression in phaeochromocytomas associated with von Hippel-Lindau syndrome and multiple endocrine neoplasia type 2. 54 61
18046660 2007
22
Mutations in genes causing human familial isolated hyperparathyroidism do not account for hyperparathyroidism in Keeshond dogs. 54 61
17158076 2007
23
[Medullary thyroid carcinoma]. 54 61
17572372 2007
24
Familial pituitary adenomas with a heterogeneous functional pattern: clinical and genetic features. 54 61
17993773 2007
25
RET signaling-induced SPHK1 gene expression plays a role in both GDNF-induced differentiation and MEN2-type oncogenesis. 54 61
17555548 2007
26
Pheochromocytoma as a catecholamine producing tumor: implications for clinical practice. 61 54
17514588 2007
27
[Familial pituitary adenomas: clinical and genetic aspects]. 54 61
17961654 2007
28
[A Multiple endocrine neoplasia type-1 observatory in a French-speaking area. A tool from the Endocrine Tumor study Group (GTE)]. 54 61
17379178 2007
29
Proteomic profiling of von Hippel-Lindau syndrome and multiple endocrine neoplasia type 2 pheochromocytomas reveals different expression of chromogranin B. 61 54
17639059 2007
30
A novel MEN1 intronic mutation associated with multiple endocrine neoplasia type 1. 61 54
17388795 2007
31
Genotype-phenotype based surgical concept of hereditary medullary thyroid carcinoma. 61 54
17453286 2007
32
Molecular genetics of the cAMP-dependent protein kinase pathway and of sporadic pituitary tumorigenesis. 61 54
17613552 2007
33
A possible new syndrome with growth-hormone secreting pituitary adenoma, colonic polyposis, lipomatosis, lentigines and renal carcinoma in association with familial testicular germ cell malignancy: A case report. 61 54
17411461 2007
34
[Medullary thyroid carcinoma and some of its particularities]. 61 54
17897902 2007
35
Phaeochromocytoma, new genes and screening strategies. 61 54
17121518 2006
36
Tumours of familial origin in the head and neck. 54 61
16857415 2006
37
The p27Kip1 tumor suppressor gene: Still a suspect or proven guilty? 54 61
17097557 2006
38
Structure and chemical inhibition of the RET tyrosine kinase domain. 61 54
16928683 2006
39
Current concepts in RET-related genetics, signaling and therapeutics. 61 54
16979782 2006
40
Pediatric paraganglioma: an early manifestation of an adult disease secondary to germline mutations. 61 54
16304664 2006
41
[Thyroid carcinomas and Hirschsprung's disease--10-year experience with molecular genetic testing of the RET proto-oncogene]. 61 54
17063805 2006
42
Loss of nuclear expression of parafibromin distinguishes parathyroid carcinomas and hyperparathyroidism-jaw tumor (HPT-JT) syndrome-related adenomas from sporadic parathyroid adenomas and hyperplasias. 54 61
16931959 2006
43
17q22-24 chromosomal losses and alterations of protein kinase a subunit expression and activity in adrenocorticotropin-independent macronodular adrenal hyperplasia. 54 61
16772351 2006
44
An in-frame complex germline mutation in the juxtamembrane intracellular domain causing RET activation in familial medullary thyroid carcinoma. 54 61
16954442 2006
45
Molecular implications of RET mutations for pheochromocytoma risk in multiple endocrine neoplasia 2. 54 61
17102091 2006
46
Genetic testing in pheochromocytoma: increasing importance for clinical decision making. 61 54
17102076 2006
47
Characteristics of pheochromocytoma in a 4- to 20-year-old population. 61 54
17102069 2006
48
Genetic analyses of apparently sporadic pheochromocytomas: the Rotterdam experience. 54 61
17102080 2006
49
Frequent genetic changes in childhood pheochromocytomas. 61 54
17102083 2006
50
Expression of mRNAs for succinate dehydrogenase subunits and related genes in pheochromocytoma. 54 61
17102093 2006

Variations for Multiple Endocrine Neoplasia

ClinVar genetic disease variations for Multiple Endocrine Neoplasia:

6 (show top 50) (show all 179) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 RET NM_020975.6(RET):c.2410G>T (p.Val804Leu)SNV Pathogenic 13946 rs79658334 10:43614996-43614996 10:43119548-43119548
2 RET NM_020975.6(RET):c.2944C>T (p.Arg982Cys)SNV Conflicting interpretations of pathogenicity 13938 rs17158558 10:43620335-43620335 10:43124887-43124887
3 RET NM_020975.6(RET):c.2372A>T (p.Tyr791Phe)SNV Conflicting interpretations of pathogenicity 13936 rs77724903 10:43613908-43613908 10:43118460-43118460
4 RET NM_020975.6(RET):c.957C>A (p.Leu319=)SNV Conflicting interpretations of pathogenicity 184139 rs149926238 10:43601913-43601913 10:43106465-43106465
5 RET NM_020975.6(RET):c.693C>T (p.Arg231=)SNV Conflicting interpretations of pathogenicity 136123 rs576806329 10:43600467-43600467 10:43105019-43105019
6 RET NM_020975.6(RET):c.597C>T (p.Asn199=)SNV Conflicting interpretations of pathogenicity 136121 rs55810667 10:43598049-43598049 10:43102601-43102601
7 MEN1 NM_000244.3(MEN1):c.1779G>A (p.Lys593=)SNV Conflicting interpretations of pathogenicity 215962 rs373669288 11:64571875-64571875 11:64804403-64804403
8 RET NM_020975.6(RET):c.2988G>A (p.Pro996=)SNV Conflicting interpretations of pathogenicity 215914 rs145798106 10:43620379-43620379 10:43124931-43124931
9 RET NM_020975.6(RET):c.2071G>A (p.Gly691Ser)SNV Conflicting interpretations of pathogenicity 24934 rs1799939 10:43610119-43610119 10:43114671-43114671
10 RET NM_020975.6(RET):c.1760-12G>ASNV Conflicting interpretations of pathogenicity 24889 rs377767392 10:43608992-43608992 10:43113544-43113544
11 RET NM_020975.6(RET):c.874G>A (p.Val292Met)SNV Conflicting interpretations of pathogenicity 24880 rs34682185 10:43601830-43601830 10:43106382-43106382
12 CDKN1B NM_004064.4(CDKN1B):c.407A>G (p.Asp136Gly)SNV Conflicting interpretations of pathogenicity 307666 rs546234840 12:12871180-12871180 12:12718246-12718246
13 RET NM_020975.6(RET):c.2070C>T (p.Ser690=)SNV Conflicting interpretations of pathogenicity 299897 rs201550433 10:43610118-43610118 10:43114670-43114670
14 RET NM_020975.6(RET):c.1879+14G>ASNV Conflicting interpretations of pathogenicity 299895 rs532810255 10:43609137-43609137 10:43113689-43113689
15 MEN1 NM_000244.3(MEN1):c.1311G>A (p.Leu437=)SNV Conflicting interpretations of pathogenicity 36524 rs138770431 11:64572560-64572560 11:64805088-64805088
16 MEN1 NM_000244.3(MEN1):c.527G>A (p.Arg176Gln)SNV Conflicting interpretations of pathogenicity 41854 rs607969 11:64575505-64575505 11:64808033-64808033
17 CDKN1B NM_004064.4(CDKN1B):c.-29_-26delAGAGshort repeat Conflicting interpretations of pathogenicity 217126 rs774454456 12:12870745-12870748 12:12717811-12717814
18 CDKN1B NM_004064.4(CDKN1B):c.397C>A (p.Pro133Thr)SNV Conflicting interpretations of pathogenicity 217127 rs137985549 12:12871170-12871170 12:12718236-12718236
19 RET NM_020975.6(RET):c.2052G>A (p.Pro684=)SNV Conflicting interpretations of pathogenicity 241343 rs145122337 10:43610100-43610100 10:43114652-43114652
20 CDKN1B NM_004064.4(CDKN1B):c.482C>G (p.Ser161Cys)SNV Conflicting interpretations of pathogenicity 239625 rs373917399 12:12871765-12871765 12:12718831-12718831
21 RET NM_020975.6(RET):c.432C>T (p.Arg144=)SNV Conflicting interpretations of pathogenicity 299888 rs756999107 10:43597884-43597884 10:43102436-43102436
22 CDKN1B NM_004064.4(CDKN1B):c.356T>C (p.Ile119Thr)SNV Conflicting interpretations of pathogenicity 307664 rs142833529 12:12871129-12871129 12:12718195-12718195
23 MEN1 NM_000244.3(MEN1):c.*470A>GSNV Conflicting interpretations of pathogenicity 305302 rs778272737 11:64571336-64571336 11:64803864-64803864
24 CDKN1B NM_004064.4(CDKN1B):c.373T>A (p.Ser125Thr)SNV Conflicting interpretations of pathogenicity 307665 rs765681672 12:12871146-12871146 12:12718212-12718212
25 CDKN1B NM_004064.4(CDKN1B):c.*204T>CSNV Uncertain significance 307676 rs886049083 12:12874165-12874165 12:12721231-12721231
26 CDKN1B NM_004064.4(CDKN1B):c.*421A>GSNV Uncertain significance 307679 rs749773766 12:12874382-12874382 12:12721448-12721448
27 CDKN1B NM_004064.4(CDKN1B):c.*1073C>TSNV Uncertain significance 307690 rs751656637 12:12875034-12875034 12:12722100-12722100
28 CDKN1B NM_004064.4(CDKN1B):c.*1186T>CSNV Uncertain significance 307691 rs886049087 12:12875147-12875147 12:12722213-12722213
29 CDKN1B NM_004064.4(CDKN1B):c.*173T>CSNV Uncertain significance 307674 rs762188974 12:12874134-12874134 12:12721200-12721200
30 RET NM_020975.6(RET):c.596A>G (p.Asn199Ser)SNV Uncertain significance 299889 rs886046986 10:43598048-43598048 10:43102600-43102600
31 RET NM_020975.6(RET):c.1162G>A (p.Val388Ile)SNV Uncertain significance 299891 rs776223166 10:43604577-43604577 10:43109129-43109129
32 RET NM_020975.6(RET):c.*538G>TSNV Uncertain significance 299914 rs886046997 10:43624255-43624255 10:43128807-43128807
33 RET NM_020975.6(RET):c.-187C>ASNV Uncertain significance 299883 rs886046983 10:43572520-43572520 10:43077072-43077072
34 RET NM_020975.6(RET):c.220G>A (p.Gly74Ser)SNV Uncertain significance 299886 rs764938319 10:43596053-43596053 10:43100605-43100605
35 RET NM_020975.6(RET):c.1420C>T (p.Arg474Trp)SNV Uncertain significance 299892 rs775842917 10:43606811-43606811 10:43111363-43111363
36 RET NM_020975.6(RET):c.2467G>A (p.Gly823Arg)SNV Uncertain significance 299898 rs138847998 10:43615053-43615053 10:43119605-43119605
37 RET NM_020975.6(RET):c.2580G>A (p.Gln860=)SNV Uncertain significance 299899 rs886046988 10:43615166-43615166 10:43119718-43119718
38 RET NM_020975.6(RET):c.2876G>A (p.Arg959Gln)SNV Uncertain significance 299901 rs745650861 10:43619193-43619193 10:43123745-43123745
39 CDKN1B NM_004064.4(CDKN1B):c.*88A>GSNV Uncertain significance 307672 rs886049082 12:12874049-12874049 12:12721115-12721115
40 CDKN1B NM_004064.4(CDKN1B):c.-471T>GSNV Uncertain significance 307647 rs886049077 12:12870303-12870303 12:12717369-12717369
41 CDKN1B NM_004064.4(CDKN1B):c.*452C>TSNV Uncertain significance 307680 rs762469235 12:12874413-12874413 12:12721479-12721479
42 CDKN1B NM_004064.4(CDKN1B):c.*746G>TSNV Uncertain significance 307684 rs886049085 12:12874707-12874707 12:12721773-12721773
43 CDKN1B NM_004064.4(CDKN1B):c.*948T>CSNV Uncertain significance 307687 rs886049086 12:12874909-12874909 12:12721975-12721975
44 CDKN1B NM_004064.4(CDKN1B):c.*980G>ASNV Uncertain significance 307689 rs756925371 12:12874941-12874941 12:12722007-12722007
45 MEN1 NM_000244.3(MEN1):c.*560G>TSNV Uncertain significance 305297 rs886048470 11:64571246-64571246 11:64803774-64803774
46 MEN1 NM_000244.3(MEN1):c.*89G>ASNV Uncertain significance 305312 rs886048478 11:64571717-64571717 11:64804245-64804245
47 MEN1 NM_000244.3(MEN1):c.-23-14G>CSNV Uncertain significance 305316 rs886048479 11:64577618-64577618 11:64810146-64810146
48 RET NM_020975.6(RET):c.-158G>ASNV Uncertain significance 299884 rs886046984 10:43572549-43572549 10:43077101-43077101
49 CDKN1B NM_004064.4(CDKN1B):c.-386C>TSNV Uncertain significance 307649 rs886049078 12:12870388-12870388 12:12717454-12717454
50 CDKN1B NM_004064.4(CDKN1B):c.-366C>TSNV Uncertain significance 307651 rs886049079 12:12870408-12870408 12:12717474-12717474

Cosmic variations for Multiple Endocrine Neoplasia:

9 (show top 50) (show all 136)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM88301868 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.389T>G p.V130G 3:10146562-10146562 4
2 COSM88294143 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.260T>C p.V87A 3:10142107-10142107 4
3 COSM88293303 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.475A>G p.K159E 3:10149798-10149798 4
4 COSM88288959 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.482G>A p.R161Q 3:10149805-10149805 4
5 COSM88296074 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.250G>C p.V84L 3:10142097-10142097 4
6 COSM88292246 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.227T>A p.F76Y 3:10142074-10142074 4
7 COSM88292324 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.496G>T p.V166F 3:10149819-10149819 4
8 COSM88305342 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.492G>T p.Q164H 3:10149815-10149815 4
9 COSM88292236 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.491A>G p.Q164R 3:10149814-10149814 4
10 COSM92347003 RET adrenal gland,adrenal gland,pheochromocytoma,benign c.2753T>C p.M918T 10:43121968-43121968 4
11 COSM92347226 RET adrenal gland,adrenal gland,pheochromocytoma,benign c.1900T>C p.C634R 10:43114500-43114500 4
12 COSM93656552 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1885G>A p.G629R 17:31225134-31225134 4
13 COSM93692982 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.5665G>T p.E1889* 17:31330351-31330351 4
14 COSM93650970 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1466A>G p.Y489C 17:31214524-31214524 4
15 COSM93662933 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.7582C>T p.Q2528* 17:31352381-31352381 4
16 COSM93654948 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.7646C>G p.S2549* 17:31356490-31356490 4
17 COSM93650764 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.7300C>T p.Q2434* 17:31349230-31349230 4
18 COSM93652933 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.205-1G>C p.? 17:31159009-31159009 4
19 COSM93668028 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1722-1G>A p.? 17:31223443-31223443 4
20 COSM93647950 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1721+3A>T p.? 17:31221932-31221932 4
21 COSM93688082 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.6855C>A p.Y2285* 17:31338739-31338739 4
22 COSM93680586 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.226G>T p.E76* 17:31159031-31159031 4
23 COSM93687360 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.3158C>A p.S1053* 17:31230886-31230886 4
24 COSM93653832 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.2409+1G>A p.? 17:31227607-31227607 4
25 COSM88844097 MET adrenal gland,adrenal gland,pheochromocytoma,benign c.3029C>T p.T1010I 7:116771936-116771936 4
26 COSM88849124 MET adrenal gland,adrenal gland,pheochromocytoma,benign c.607T>A p.S203T 7:116699691-116699691 4
27 COSM88850455 MET adrenal gland,adrenal gland,pheochromocytoma,benign c.352A>T p.M118L 7:116699436-116699436 4
28 COSM112988851 HRAS adrenal gland,adrenal gland,pheochromocytoma,benign c.182A>G p.Q61R 11:533874-533874 4
29 COSM112988925 HRAS adrenal gland,adrenal gland,pheochromocytoma,benign c.181C>A p.Q61K 11:533875-533875 4
30 COSM112988832 HRAS adrenal gland,adrenal gland,pheochromocytoma,benign c.37G>C p.G13R 11:534286-534286 4
31 COSM95516578 H3-3A adrenal gland,adrenal gland,pheochromocytoma,benign c.103G>T p.G35W 1:226064454-226064454 4
32 COSM107493928 FGFR1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1731C>A p.N577K 8:38417331-38417331 4
33 COSM86761750 EPAS1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1104G>A p.M368I 2:46376608-46376608 4
34 COSM86761419 EPAS1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1589C>A p.A530E 2:46380261-46380261 4
35 COSM86757527 EPAS1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1595A>G p.Y532C 2:46380267-46380267 4
36 COSM86759134 EPAS1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1592C>T p.P531L 2:46380264-46380264 4
37 COSM93530486 adrenal gland,adrenal gland,pheochromocytoma,benign c.226G>T p.E76* 17:31159031-31159031 4
38 COSM91331163 adrenal gland,adrenal gland,pheochromocytoma,benign c.182A>G p.Q61R 11:533874-533874 4
39 COSM120509060 adrenal gland,adrenal gland,pheochromocytoma,benign c.1466A>G p.Y489C 17:31214524-31214524 4
40 COSM92696795 adrenal gland,adrenal gland,pheochromocytoma,benign c.*688C>A p.? 8:38417331-38417331 4
41 COSM93535461 adrenal gland,adrenal gland,pheochromocytoma,benign c.3158C>A p.S1053* 17:31230886-31230886 4
42 COSM101951610 adrenal gland,adrenal gland,pheochromocytoma,benign c.182A>G p.Q61R 11:533874-533874 4
43 COSM109968573 adrenal gland,adrenal gland,pheochromocytoma,benign c.226G>T p.E76* 17:31159031-31159031 4
44 COSM109960979 adrenal gland,adrenal gland,pheochromocytoma,benign c.1466A>G p.Y489C 17:31214524-31214524 4
45 COSM93512112 adrenal gland,adrenal gland,pheochromocytoma,benign c.1885G>A p.G629R 17:31225134-31225134 4
46 COSM90654925 adrenal gland,adrenal gland,pheochromocytoma,benign c.260T>C p.V87A 3:10142107-10142107 4
47 COSM105721394 adrenal gland,adrenal gland,pheochromocytoma,benign c.182A>G p.Q61R 11:533874-533874 4
48 COSM93508888 adrenal gland,adrenal gland,pheochromocytoma,benign c.205-1G>C p.? 17:31159009-31159009 4
49 COSM90652830 adrenal gland,adrenal gland,pheochromocytoma,benign c.373G>T p.V125F 3:10149819-10149819 4
50 COSM111018308 adrenal gland,adrenal gland,pheochromocytoma,benign c.352A>T p.M118L 7:116699436-116699436 4

Expression for Multiple Endocrine Neoplasia

Search GEO for disease gene expression data for Multiple Endocrine Neoplasia.

Pathways for Multiple Endocrine Neoplasia

Pathways related to Multiple Endocrine Neoplasia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.2 RET GDNF

GO Terms for Multiple Endocrine Neoplasia

Cellular components related to Multiple Endocrine Neoplasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone) GO:0005749 8.96 SDHC SDHB
2 respiratory chain complex II GO:0045273 8.62 SDHC SDHB

Biological processes related to Multiple Endocrine Neoplasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription, DNA-templated GO:0045892 9.56 MEN1 DPF2 CDKN1B CALCA
2 tricarboxylic acid cycle GO:0006099 9.37 SDHC SDHB
3 aerobic respiration GO:0009060 9.32 SDHC SDHB
4 negative regulation of cyclin-dependent protein serine/threonine kinase activity GO:0045736 9.16 MEN1 CDKN1B
5 response to pain GO:0048265 8.96 RET CALCA
6 enteric nervous system development GO:0048484 8.62 RET GDNF

Sources for Multiple Endocrine Neoplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
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28 GO
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30 HMDB
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63 QIAGEN
68 SNOMED-CT via HPO
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