MEN4
MCID: MLT086
MIFTS: 51

Multiple Endocrine Neoplasia, Type Iv (MEN4) malady

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

Aliases & Classifications for Multiple Endocrine Neoplasia, Type Iv

Aliases & Descriptions for Multiple Endocrine Neoplasia, Type Iv:

Name: Multiple Endocrine Neoplasia, Type Iv 54 12 13 69
Multiple Endocrine Neoplasia Type 4 12 24 56 14
Men4 24 56 66
Multiple Endocrine Neoplasia 4 66 29
Multiple Endocrine Neoplasia Type Iv 24
Men 4 24

Characteristics:

Orphanet epidemiological data:

56
multiple endocrine neoplasia type 4
Inheritance: Autosomal dominant,Not applicable;

HPO:

32
multiple endocrine neoplasia, type iv:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 56  
Rare endocrine diseases


External Ids:

OMIM 54 610755
Disease Ontology 12 DOID:0080137
Orphanet 56 ORPHA276152
ICD10 via Orphanet 34 D44.8
MedGen 40 C1970712

Summaries for Multiple Endocrine Neoplasia, Type Iv

UniProtKB/Swiss-Prot : 66 Multiple endocrine neoplasia 4: Multiple endocrine neoplasia (MEN) syndromes are inherited cancer syndromes of the thyroid. MEN4 is a MEN-like syndrome with a phenotypic overlap of both MEN1 and MEN2.

MalaCards based summary : Multiple Endocrine Neoplasia, Type Iv, also known as multiple endocrine neoplasia type 4, is related to multiple endocrine neoplasia 1 and familial porencephaly, and has symptoms including carcinoid tumor, parathyroid adenoma and growth hormone excess. An important gene associated with Multiple Endocrine Neoplasia, Type Iv is CDKN1B (Cyclin Dependent Kinase Inhibitor 1B), and among its related pathways/superpathways are PI3K-Akt signaling pathway and Mitotic G1-G1/S phases. The drugs Insulin Glargine and Insulin Lispro have been mentioned in the context of this disorder. Affiliated tissues include thyroid, pituitary and cervix, and related phenotypes are Increased shRNA abundance (Z-score > 2) and endocrine/exocrine gland

Description from OMIM: 610755

Related Diseases for Multiple Endocrine Neoplasia, Type Iv

Diseases in the Multiple Endocrine Neoplasia family:

Multiple Endocrine Neoplasia Iia Multiple Endocrine Neoplasia Iib
Multiple Endocrine Neoplasia 1 Multiple Endocrine Neoplasia, Type Iv

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

(show all 37)
id Related Disease Score Top Affiliating Genes
1 multiple endocrine neoplasia 1 10.8
2 familial porencephaly 10.2 AIP CDKN1B
3 spondyloepimetaphyseal dysplasia, isidor type 10.2 AIP MEN1
4 spondylometaphyseal dysplasia, czarny-ratajczak type 10.2 AIP MEN1
5 african histoplasmosis 10.1 AIP PRL
6 papillary adenoma 10.1 MEN1 PRKAR1A
7 glaucoma, hereditary adult type 1a 10.1 AIP PRL
8 vertebral artery occlusion 10.1 AIP PRL
9 pituitary adenoma, acth-secreting 10.1 AIP PRL
10 protein s deficiency 10.1 AIP PRL
11 rheumatic encephalitis 10.1 MEN1 PRL
12 infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovasuclar malformations 10.0 AIP PRL
13 merkel cell carcinoma 10.0 PRKAR1A PRL
14 esophagus squamous cell papilloma 10.0 PRKAR1A PRL
15 cowper gland carcinoma 10.0 CDKN2C MEN1
16 urethra clear cell adenocarcinoma 10.0 MEN1 PRL
17 adrenal cortical adenocarcinoma 10.0 PRKAR1A PRL
18 aneurysm 10.0 CDKN1B MEN1 PRKAR1A
19 subserous uterine fibroid 10.0 CDKN1B MEN1 PRKAR1A
20 uterine ligament cancer 10.0 AIP MEN1 PRKAR1A
21 multiple endocrine neoplasia 10.0
22 pulmonary neuroendocrine tumor 10.0 AIP MEN1 PRL
23 immune system organ benign neoplasm 10.0 AIP MEN1 PRL
24 endocrine organ benign neoplasm 10.0 AIP MEN1 PRL
25 parathyroid carcinoma 10.0 MEN1 PRKAR1A
26 vestibular gland benign neoplasm 10.0 AIP MEN1 PRL
27 thrombophilia 10.0 AIP MEN1 PRL
28 osseous heteroplasia, progressive 9.9 MEN1 PRKAR1A PRL
29 extraocular retinoblastoma 9.9 CDK2 CDKN1B
30 post-surgical hypoinsulinemia 9.9 CDK2 CDKN1B
31 cone-rod dystrophy 5 9.8 AIP CDKN1B MEN1 PRKAR1A
32 integumentary system benign neoplasm 9.8 CDK2 CDKN1B
33 cold-induced sweating syndrome 2 9.8 AIP MEN1 PRKAR1A PRL
34 adamantinous craniopharyngioma 9.8 AIP MEN1 PRKAR1A PRL
35 bladder colonic type adenocarcinoma 9.8 AIP MEN1 PRKAR1A PRL
36 leukemia, acute promyelocytic, somatic 9.6 CDKN1B CDKN2C MEN1 PRKAR1A PRL
37 bowen-conradi syndrome 9.1 AIP CDK2 CDKN1B CDKN2C MEN1 PRKAR1A

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



Diseases related to Multiple Endocrine Neoplasia, Type Iv

Symptoms & Phenotypes for Multiple Endocrine Neoplasia, Type Iv

Symptoms by clinical synopsis from OMIM:

610755

Clinical features from OMIM:

610755

Human phenotypes related to Multiple Endocrine Neoplasia, Type Iv:

56 32 (show all 39)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 carcinoid tumor 56 32 Occasional (29-5%) HP:0100570
2 parathyroid adenoma 56 32 Very frequent (99-80%) HP:0002897
3 growth hormone excess 56 32 Frequent (79-30%) HP:0000845
4 pituitary adenoma 56 32 Frequent (79-30%) HP:0002893
5 renal angiomyolipoma 56 32 Frequent (79-30%) HP:0006772
6 diarrhea 56 Frequent (79-30%)
7 abnormality of the endocrine system 56 Very frequent (99-80%)
8 neuroendocrine neoplasm 56 Frequent (79-30%)
9 hyperparathyroidism 56 Very frequent (99-80%)
10 extrahepatic cholestasis 56 Occasional (29-5%)
11 increased glucagon level 56 Occasional (29-5%)
12 hypercalcemia 56 Very frequent (99-80%)
13 elevated circulating parathyroid hormone level 56 Very frequent (99-80%)
14 parathyroid hyperplasia 56 Very frequent (99-80%)
15 abnormality of pancreas physiology 56 Frequent (79-30%)
16 hyperinsulinemic hypoglycemia 56 Frequent (79-30%)
17 thyroid adenoma 56 Frequent (79-30%)
18 subcutaneous lipoma 56 Frequent (79-30%)
19 zollinger-ellison syndrome 56 Frequent (79-30%)
20 episodic abdominal pain 56 Frequent (79-30%)
21 peptic ulcer 56 Frequent (79-30%)
22 pituitary prolactin cell adenoma 56 Frequent (79-30%)
23 adrenocortical adenoma 56 Frequent (79-30%)
24 fasting hyperinsulinemia 56 Frequent (79-30%)
25 angiofibromas 56 Frequent (79-30%)
26 pituitary growth hormone cell adenoma 56 Frequent (79-30%)
27 pituitary null cell adenoma 56 Frequent (79-30%)
28 insulinoma 56 Frequent (79-30%)
29 esophagitis 56 Frequent (79-30%)
30 hypercortisolism 56 Occasional (29-5%)
31 confetti-like hypopigmented macules 56 Occasional (29-5%)
32 pituitary corticotropic cell adenoma 56 Occasional (29-5%)
33 erythema 56 Occasional (29-5%)
34 increased urinary cortisol level 56 Occasional (29-5%)
35 thymoma 56 Very rare (<4-1%)
36 cervix cancer 56 Occasional (29-5%)
37 testicular neoplasm 56 Occasional (29-5%)
38 pulmonary carcinoid tumor 56 Frequent (79-30%)
39 parathyroid carcinoma 56 Occasional (29-5%)

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.74 PRKAR1A
2 Increased shRNA abundance (Z-score > 2) GR00366-A-115 9.74 MEN1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-118 9.74 CDK2
4 Increased shRNA abundance (Z-score > 2) GR00366-A-122 9.74 MEN1 PRKAR1A CDK2
5 Increased shRNA abundance (Z-score > 2) GR00366-A-128 9.74 MEN1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-13 9.74 CDK2
7 Increased shRNA abundance (Z-score > 2) GR00366-A-157 9.74 CDK2
8 Increased shRNA abundance (Z-score > 2) GR00366-A-16 9.74 PRKAR1A
9 Increased shRNA abundance (Z-score > 2) GR00366-A-164 9.74 PRKAR1A
10 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.74 MEN1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-189 9.74 PRKAR1A
12 Increased shRNA abundance (Z-score > 2) GR00366-A-205 9.74 PRKAR1A
13 Increased shRNA abundance (Z-score > 2) GR00366-A-25 9.74 CDK2
14 Increased shRNA abundance (Z-score > 2) GR00366-A-39 9.74 PRKAR1A
15 Increased shRNA abundance (Z-score > 2) GR00366-A-41 9.74 CDK2
16 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.74 MEN1 CDK2
17 Increased shRNA abundance (Z-score > 2) GR00366-A-47 9.74 MEN1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.74 MEN1 CDK2
19 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.74 PRKAR1A
20 Increased shRNA abundance (Z-score > 2) GR00366-A-57 9.74 CDK2
21 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.74 MEN1
22 Increased shRNA abundance (Z-score > 2) GR00366-A-93 9.74 CDK2

MGI Mouse Phenotypes related to Multiple Endocrine Neoplasia, Type Iv:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.98 CDK2 CDKN1B CDKN2C MEN1 PRKAR1A PRL
2 cardiovascular system MP:0005385 9.95 MEN1 PRKAR1A AIP CDK2 CDKN1B CDKN2C
3 cellular MP:0005384 9.93 AIP CDK2 CDKN1B CDKN2C MEN1 PRKAR1A
4 homeostasis/metabolism MP:0005376 9.91 AIP CDK2 CDKN1B CDKN2C MEN1 PRKAR1A
5 growth/size/body region MP:0005378 9.88 AIP CDK2 CDKN1B CDKN2C MEN1 PRKAR1A
6 immune system MP:0005387 9.8 CDK2 CDKN1B CDKN2C MEN1 PRKAR1A PRL
7 integument MP:0010771 9.65 AIP CDK2 CDKN1B CDKN2C PRL
8 liver/biliary system MP:0005370 9.63 AIP CDK2 CDKN1B MEN1 PRKAR1A PRL
9 neoplasm MP:0002006 9.5 AIP CDK2 CDKN1B CDKN2C MEN1 PRKAR1A
10 reproductive system MP:0005389 9.1 CDK2 CDKN1B CDKN2C MEN1 PRKAR1A PRL

Drugs & Therapeutics for Multiple Endocrine Neoplasia, Type Iv

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

(show top 50) (show all 246)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Insulin Glargine Approved Phase 4 160337-95-1
2
Insulin Lispro Approved Phase 4 133107-64-9
3
Zinc Approved Phase 4 7440-66-6 32051 23994
4
Liraglutide Approved Phase 4,Phase 3 204656-20-2
5
Metformin Approved Phase 4,Phase 3,Phase 2 657-24-9 14219 4091
6
Everolimus Approved Phase 4 159351-69-6 6442177
7
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 1 22916-47-8 4189
8
Sirolimus Approved, Investigational Phase 4 53123-88-9 5284616 6436030 46835353
9
Somatostatin Approved Phase 4 38916-34-6, 51110-01-1 53481605
10 Hypoglycemic Agents Phase 4,Phase 3,Phase 2
11 insulin Phase 4,Phase 2,Phase 1
12 Insulin, Globin Zinc Phase 4,Phase 2,Phase 1
13 Insulin, Isophane Phase 4
14 Isophane insulin, beef Phase 4
15 Isophane Insulin, Human Phase 4
16 Anti-Bacterial Agents Phase 4,Phase 3,Phase 1,Phase 2
17 Antibiotics, Antitubercular Phase 4,Phase 1,Phase 2
18 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1
19 Immunosuppressive Agents Phase 4,Phase 2,Phase 1
20 Dipeptidyl-Peptidase IV Inhibitors Phase 4,Phase 3
21 HIV Protease Inhibitors Phase 4,Phase 3,Phase 2,Phase 1
22 Hormone Antagonists Phase 4,Phase 3,Phase 1,Phase 2
23 Hormones Phase 4,Phase 3,Phase 1,Phase 2
24 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 1,Phase 2
25 Incretins Phase 4,Phase 3
26
protease inhibitors Phase 4,Phase 3,Phase 2,Phase 1
27 Sitagliptin Phosphate Phase 4,Phase 3
28 Antifungal Agents Phase 4,Phase 1
29
Paclitaxel Approved, Vet_approved Phase 3,Phase 2,Phase 1 33069-62-4 36314
30
Carboplatin Approved Phase 3,Phase 2 41575-94-4 10339178 498142 38904
31
Estradiol Approved, Investigational, Vet_approved Phase 3 50-28-2 5757 53477783
32
Ethinyl Estradiol Approved Phase 3 57-63-6 5991
33
Moxifloxacin Approved, Investigational Phase 3 354812-41-2, 151096-09-2 152946
34
Norgestimate Approved Phase 3 35189-28-7 6540478
35 Albumin-Bound Paclitaxel Phase 3,Phase 2,Phase 1
36 Antimitotic Agents Phase 3,Phase 2,Phase 1
37 Antineoplastic Agents, Phytogenic Phase 3,Phase 2,Phase 1
38 Contraceptive Agents Phase 3,Phase 1,Phase 2
39 Topoisomerase Inhibitors Phase 3,Phase 1,Phase 2
40 Contraceptives, Oral Phase 3
41 Contraceptives, Oral, Combined Phase 3
42 Estradiol 17 beta-cypionate Phase 3
43 Estradiol 3-benzoate Phase 3
44 Estradiol valerate Phase 3 979-32-8
45 Fluoroquinolones Phase 3
46 Norgestimate, ethinyl estradiol drug combination Phase 3
47 Nucleic Acid Synthesis Inhibitors Phase 3
48 Polyestradiol phosphate Phase 3
49
Cisplatin Approved Phase 2,Phase 1 15663-27-1 84093 441203 2767
50
Dutasteride Approved, Investigational Phase 1, Phase 2 164656-23-9 152945 6918296

Interventional clinical trials:

(show top 50) (show all 95)
id Name Status NCT ID Phase
1 Glargine Versus NPH in Patients With Chronic Kidney Disease Completed NCT02451917 Phase 4
2 Ejaculatory Sparing vs. Non-ejaculatory Sparing GreenLight Laser Photoselective Vaporization of the Prostate Recruiting NCT02749604 Phase 4
3 Phase IV Study of the Safety and Efficacy of Everolimus in Adult Patients With Progressive pNET in China Recruiting NCT02842749 Phase 4
4 Study of Management of Pasireotide-induced Hyperglycemia in Adult Patients With Cushing's Disease or Acromegaly Recruiting NCT02060383 Phase 4
5 The Effect of Liraglutide Compared to Sitagliptin, Both in Combination With Metformin on Glycaemic Control in Subjects With Type 2 Diabetes Mellitus Completed NCT00700817 Phase 3
6 Study of Paclitaxel in Patients With Ovarian Cancer Completed NCT00989131 Phase 3
7 Avelumab in Previously Untreated Patients With Epithelial Ovarian Cancer (JAVELIN OVARIAN 100) Recruiting NCT02718417 Phase 3
8 Efficacy of HIPEC as NACT and Postoperative Chemotherapy in the Treatment of Advanced-Stage Epithelial Ovarian Cancer Not yet recruiting NCT03180177 Phase 3
9 Moxifloxacin in Preventing Bacterial Infections in Patients Who Have Undergone Donor Stem Cell Transplant Terminated NCT00324324 Phase 3
10 Oral Androgens in Man-4: (Short Title: Oral T-4) Completed NCT00399165 Phase 1, Phase 2
11 Safety and Efficacy of Folatescan (Technetium TC 99M EC20) in Patients With Suspected Ovarian Carcinoma or Recurrent Endometrial Carcinoma Completed NCT01689714 Phase 2
12 Metformin Combined With Chemotherapy for Pancreatic Cancer Completed NCT01210911 Phase 2
13 Gemcitabine Hydrochloride With or Without Vismodegib in Treating Patients With Recurrent or Metastatic Pancreatic Cancer Completed NCT01064622 Phase 1, Phase 2
14 Study of Denosumab in the Treatment of Hypercalcemia of Malignancy in Subjects With Elevated Serum Calcium Completed NCT00896454 Phase 2
15 Efficacy and Safety Study of M200(Volociximab in Combination With Liposomal Doxorubicin) Completed NCT00635193 Phase 1, Phase 2
16 Eribulin Mesylate in Treating Patients With Recurrent Ovarian Epithelial, Primary Peritoneal Cavity, or Fallopian Tube Cancer Completed NCT00334893 Phase 2
17 Cisplatin Induction With Paclitaxel Consolidation for Stage III-IV Epithelial Ovarian and Primary Peritoneal Cancer Completed NCT00314678 Phase 2
18 Ondansetron in Preventing Nausea and Vomiting in Patients Undergoing Stem Cell Transplant Completed NCT00795769 Phase 2
19 Campath-1H + FK506 and Methylprednisolone for GVHD Completed NCT00109993 Phase 2
20 A Study of AGS-1C4D4 Given in Combination With Gemcitabine in Subjects With Metastatic Pancreatic Cancer Completed NCT00902291 Phase 2
21 Phase II Gemcitabine + Fractionated Stereotactic Radiotherapy for Unresectable Pancreatic Adenocarcinoma Completed NCT01146054 Phase 2
22 Belotecan Versus Topotecan for Recurrent Ovarian Cancer: A Randomized, Open-label, Parallel-group Phase IIb Trial Completed NCT01630018 Phase 2
23 A Study to Determine Safety, Pharmacokinetics and Pharmacodynamics of Intravenous TKM 080301 in Neuroendocrine Tumors (NET) and Adrenocortical Carcinoma (ACC) Patients Completed NCT01262235 Phase 1, Phase 2
24 High-Dose Chemotherapy, Total-Body Irradiation, and Autologous Stem Cell Transplantation or Bone Marrow Transplantation in Treating Patients With Hematologic Cancer or Solid Tumors Completed NCT00060255 Phase 2
25 A Phase 1/2 Dose Finding Study of an Experimental New Drug CS7017, an Oral PPARγ Agonist Taken by Mouth Twice Daily in Combination With Paclitaxel Chemotherapy Completed NCT00603941 Phase 1, Phase 2
26 Lymphocyte Infusion in Treating Patients With Relapsed Cancer After Bone Marrow or Peripheral Stem Cell Transplantation Completed NCT00003887 Phase 2
27 Biological Therapy Following Chemotherapy and Peripheral Stem Cell Transplantation in Treating Patients With Cancer Completed NCT00003408 Phase 2
28 Beclomethasone in Treating Patients With Graft-Versus-Host Disease of the Esophagus, Stomach, Small Intestine, or Colon Completed NCT00010283 Phase 1, Phase 2
29 Alemtuzumab and Glucocorticoids in Treating Newly Diagnosed Acute Graft-Versus-Host Disease in Patients Who Have Undergone a Donor Stem Cell Transplant Completed NCT00410657 Phase 2
30 A Phase I/II Trial of Crolibulin (EPC2407) Plus Cisplatin in Adults With Solid Tumors With a Focus on Anaplastic Thyroid Cancer (ATC) Completed NCT01240590 Phase 1, Phase 2
31 Ravuconazole in Preventing Fungal Infections in Patients Undergoing Allogeneic Stem Cell Transplantation Completed NCT00064311 Phase 1, Phase 2
32 Study to Compare Cardiovascular Side Effects of Teysuno Versus Capecitabine Recruiting NCT01845337 Phase 2
33 Phase I/II Study of IMMU-132 in Patients With Epithelial Cancers Recruiting NCT01631552 Phase 1, Phase 2
34 Mesothelin-Targeted Immunotoxin LMB-100 Alone or in Combination With Nab-Paclitaxel in People With Previously Treated Metastatic and/or Locally Advanced Pancreatic Ductal Adenocarcinoma and Mesothelin Expressing Solid Tumors Recruiting NCT02810418 Phase 1, Phase 2
35 Hypofractionated Stereotactic Body Radiation Therapy and Fluorouracil or Capecitabine With or Without Zoledronic Acid in Treating Patients With Locally Advanced Pancreatic Cancer Recruiting NCT03073785 Phase 2
36 Combination Chemotherapy With or Without Oregovomab Followed by Stereotactic Body Radiation Therapy and Nelfinavir Mesylate in Treating Patients With Locally Advanced Pancreatic Cancer Recruiting NCT01959672 Phase 2
37 Study of Gemcitabine, Carboplatin and VELIPARIB (ABT-888) in Refractory Testicular Germ Cell Cancer Recruiting NCT02860819 Phase 2
38 Administering Peripheral Blood Lymphocytes Transduced With a CD70-Binding Chimeric Antigen Receptor to People With CD70 Expressing Cancers Recruiting NCT02830724 Phase 1, Phase 2
39 Ziv-Aflibercept in Treating and Computed Tomography Perfusion Imaging in Predicting Response in Patients With Pancreatic Neuroendocrine Tumors That Are Metastatic or Cannot Be Removed by Surgery Active, not recruiting NCT02101918 Phase 2
40 Phase 1b/2 Study of Carfilzomib in Relapsed Solid Tumors, Multiple Myeloma, or Lymphoma Active, not recruiting NCT00531284 Phase 1, Phase 2
41 Pembrolizumab in Subjects With Incurable Platinum-Refractory Germ Cell Tumors Active, not recruiting NCT02499952 Phase 2
42 QUILT-3.010: A Study of Gemcitabine and Nab-paclitaxel With or Without NPC-1C to Treat Patients With Pancreatic Cancer Active, not recruiting NCT01834235 Phase 1, Phase 2
43 Pembrolizumab and Lenvatinib in Treating Metastatic or Recurrent Differentiated Thyroid Cancer That Cannot Be Removed by Surgery Not yet recruiting NCT02973997 Phase 2
44 Gemcitabine and CT-011 for Resected Pancreatic Cancer Suspended NCT01313416 Phase 2
45 A Phase II Study of Pertuzumab and Erlotinib for Metastatic or Unresectable Neuroendocrine Tumors Terminated NCT00947167 Phase 2
46 IMC-A12 With Mitotane vs Mitotane Alone in Recurrent, Metastatic, or Primary ACC That Cannot Be Removed by Surgery Terminated NCT00778817 Phase 2
47 Study of Adding AMG 479 to First Line Chemotherapy in Patients With Optimally Debulked Epithelial Ovarian Cancer Terminated NCT00718523 Phase 2
48 Clinical Evaluation of 18F-DOPA Positron Emission Tomography in Medullary Thyroid Cancer Terminated NCT00647140 Phase 2
49 QUILT-3.026: AMG 655 in Combination With AMG 479 in Advanced, Refractory Solid Tumors Terminated NCT00819169 Phase 1, Phase 2
50 Adenocarcinoma of the Pancreas Treated With Panitumumab and Gemcitabine Regimen to Investigate Overall Survival as Primary Endpoint Terminated NCT00613730 Phase 2

Search NIH Clinical Center for Multiple Endocrine Neoplasia, Type Iv

Genetic Tests for Multiple Endocrine Neoplasia, Type Iv

Genetic tests related to Multiple Endocrine Neoplasia, Type Iv:

id Genetic test Affiliating Genes
1 Multiple Endocrine Neoplasia, Type 4 29
2 Multiple Endocrine Neoplasia Type 4 24 CDKN1B

Anatomical Context for Multiple Endocrine Neoplasia, Type Iv

MalaCards organs/tissues related to Multiple Endocrine Neoplasia, Type Iv:

39
Thyroid, Pituitary, Cervix, Pancreas

Publications for Multiple Endocrine Neoplasia, Type Iv

Variations for Multiple Endocrine Neoplasia, Type Iv

ClinVar genetic disease variations for Multiple Endocrine Neoplasia, Type Iv:

6 (show all 19)
id Gene Variation Type Significance SNP ID Assembly Location
1 CDKN1B NM_004064.4(CDKN1B): c.227G> A (p.Trp76Ter) single nucleotide variant Pathogenic rs121917832 GRCh37 Chromosome 12, 12871000: 12871000
2 RET NM_020975.4(RET): c.1901G> A (p.Cys634Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs75996173 GRCh37 Chromosome 10, 43609949: 43609949
3 RET NM_020630.4(RET): c.1859G> A (p.Cys620Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs77503355 GRCh37 Chromosome 10, 43609103: 43609103
4 RET NM_020975.4(RET): c.1900T> C (p.Cys634Arg) single nucleotide variant Pathogenic/Likely pathogenic rs75076352 GRCh37 Chromosome 10, 43609948: 43609948
5 RET NM_020630.4(RET): c.1902C> G (p.Cys634Trp) single nucleotide variant Pathogenic/Likely pathogenic rs77709286 GRCh37 Chromosome 10, 43609950: 43609950
6 RET NM_020975.4(RET): c.2753T> C (p.Met918Thr) single nucleotide variant Pathogenic/Likely pathogenic rs74799832 GRCh37 Chromosome 10, 43617416: 43617416
7 RET NM_020630.4(RET): c.1852T> C (p.Cys618Arg) single nucleotide variant Pathogenic/Likely pathogenic rs76262710 GRCh37 Chromosome 10, 43609096: 43609096
8 RET NM_020630.4(RET): c.2304G> C (p.Glu768Asp) single nucleotide variant Pathogenic/Likely pathogenic rs78014899 GRCh37 Chromosome 10, 43613840: 43613840
9 RET NM_020975.4(RET): c.1826G> A (p.Cys609Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs77939446 GRCh37 Chromosome 10, 43609070: 43609070
10 RET NM_020975.4(RET): c.2671T> G (p.Ser891Ala) single nucleotide variant Pathogenic/Likely pathogenic rs75234356 GRCh37 Chromosome 10, 43615592: 43615592
11 RET NM_020975.4(RET): c.1853G> A (p.Cys618Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs79781594 GRCh37 Chromosome 10, 43609097: 43609097
12 RET NM_020630.4(RET): c.1888T> C (p.Cys630Arg) single nucleotide variant Pathogenic/Likely pathogenic rs377767404 GRCh37 Chromosome 10, 43609936: 43609936
13 RET NM_020630.4(RET): c.2410G> C (p.Val804Leu) single nucleotide variant Pathogenic/Likely pathogenic rs79658334 GRCh37 Chromosome 10, 43614996: 43614996
14 RET NM_020975.4(RET): c.2647_2648delGCinsTT (p.Ala883Phe) indel Pathogenic/Likely pathogenic rs377767429 GRCh37 Chromosome 10, 43615568: 43615569
15 CDKN1B NM_004064.4(CDKN1B): c.59_77dup19 (p.Ser27Glyfs) duplication Pathogenic rs786201007 GRCh38 Chromosome 12, 12717898: 12717916
16 CDKN1B NM_004064.4(CDKN1B): c.206C> T (p.Pro69Leu) single nucleotide variant Pathogenic rs777354267 GRCh38 Chromosome 12, 12718045: 12718045
17 CDKN1B NM_004064.4(CDKN1B): c.-456_-453delCCTT deletion Pathogenic rs786201010 GRCh37 Chromosome 12, 12870318: 12870321
18 CDKN1B NM_004064.4(CDKN1B): c.374_375delCT (p.Ser125Terfs) deletion Pathogenic rs786201011 GRCh37 Chromosome 12, 12871147: 12871148
19 CDKN1B NM_004064.4(CDKN1B): c.49_52delGACG (p.Asp17Profs) deletion Pathogenic rs1060500186 GRCh38 Chromosome 12, 12717888: 12717891

Expression for Multiple Endocrine Neoplasia, Type Iv

Search GEO for disease gene expression data for Multiple Endocrine Neoplasia, Type Iv.

Pathways for Multiple Endocrine Neoplasia, Type Iv

GO Terms for Multiple Endocrine Neoplasia, Type Iv

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

id Name GO ID Score Top Affiliating Genes
1 negative regulation of cell proliferation GO:0008285 9.61 CDKN1B CDKN2C MEN1
2 phosphorylation GO:0016310 9.56 CDK2 CDKN1B CDKN2C PRKAR1A
3 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest GO:0006977 9.4 CDK2 CDKN1B
4 negative regulation of epithelial cell proliferation GO:0050680 9.37 CDKN1B MEN1
5 regulation of cyclin-dependent protein serine/threonine kinase activity GO:0000079 9.32 CDKN1B CDKN2C
6 negative regulation of phosphorylation GO:0042326 9.16 CDKN1B CDKN2C
7 G1/S transition of mitotic cell cycle GO:0000082 9.13 CDK2 CDKN1B CDKN2C
8 negative regulation of cyclin-dependent protein serine/threonine kinase activity GO:0045736 8.8 CDKN1B CDKN2C MEN1

Molecular functions related to Multiple Endocrine Neoplasia, Type Iv according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 kinase activity GO:0016301 9.46 CDK2 CDKN1B CDKN2C PRKAR1A
2 cyclin-dependent protein serine/threonine kinase activity GO:0004693 9.26 CDK2 CDKN1B
3 cyclin binding GO:0030332 8.96 CDK2 CDKN1B
4 cyclin-dependent protein serine/threonine kinase inhibitor activity GO:0004861 8.62 CDKN1B CDKN2C

Sources for Multiple Endocrine Neoplasia, Type Iv

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
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