MEN2A
MCID: MLT024
MIFTS: 64

Multiple Endocrine Neoplasia Iia (MEN2A) malady

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

Aliases & Classifications for Multiple Endocrine Neoplasia Iia

Aliases & Descriptions for Multiple Endocrine Neoplasia Iia:

Name: Multiple Endocrine Neoplasia Iia 54 13
Multiple Endocrine Neoplasia Type 2a 12 50 24 56 29 42 14 69
Multiple Endocrine Neoplasia Type 2 23 50 24 56 29 69
Sipple Syndrome 12 50 24 56
Men2a 12 24 56 66
Men2 50 24 56 66
Men 2a 50 24 52
Men2 Syndrome 23 24
Ptc Syndrome 50 56
Men 2 23 24
Pheochromocytoma and Amyloid Producing Medullary Thyroid Carcinoma 50
Multiple Endocrine Neoplasia, Type Iia 54
Multiple Endocrine Neoplasia Ii 12
Multiple Neoplasia Type 2 66
Multiple Neoplasia 2a 66
Men-2a Syndrome 50

Characteristics:

Orphanet epidemiological data:

56
multiple endocrine neoplasia type 2
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Europe); Age of onset: All ages; Age of death: normal life expectancy;
multiple endocrine neoplasia type 2a
Inheritance: Autosomal dominant; Age of onset: Childhood; Age of death: normal life expectancy;

GeneReviews:

23
multiple endocrine neoplasia iia:
Inheritance autosomal dominant inheritance


GeneReviews:

23
Penetrance The penetrance for mtc, pheochromocytoma, and parathyroid disease varies by men 2 subtype (see table 2)...

Classifications:



External Ids:

OMIM 54 171400
Disease Ontology 12 DOID:0050430
ICD10 33 E31.22
ICD9CM 35 258.02
MeSH 42 D018813
NCIt 47 C3226
SNOMED-CT 64 61808009
ICD10 via Orphanet 34 D44.8
UMLS via Orphanet 70 C0025268
MESH via Orphanet 43 D018813
MedGen 40 C0025268
UMLS 69 C0025268

Summaries for Multiple Endocrine Neoplasia Iia

NIH Rare Diseases : 50 multiple endocrine neoplasia type 2 (men2) is an inherited disorder in which one or more of the endocrine glands are overactive or form a tumor. endocrine glands most commonly involved include: adrenal (about half the time) parathyroid (20% of the time) thyroid (almost all of the time) men2 is caused by a defect in the ret gene. this defect causes many tumors to appear in the same person, but not necessarily at the same time. the adrenal tumor is called a pheochromocytoma, and the thyroid tumor is a medullary carcinoma of the thyroid. the condition is usually inherited in an autosomal dominant pattern. men2 is divided into three subtypes: type 2a, type 2b, and familial medullary thyroid carcinoma (fmtc). these subtypes differ in their characteristic signs and symptoms and risk of specific tumors. the features of this disorder are relatively consistent within any one family. last updated: 9/2/2015

MalaCards based summary : Multiple Endocrine Neoplasia Iia, also known as multiple endocrine neoplasia type 2a, is related to pheochromocytoma and adrenal carcinoma, and has symptoms including pruritus, constipation and fatigue. An important gene associated with Multiple Endocrine Neoplasia Iia is RET (Ret Proto-Oncogene), and among its related pathways/superpathways are Signaling by GPCR and GDNF-Family Ligands and Receptor Interactions. The drugs Metformin and Sunitinib have been mentioned in the context of this disorder. Affiliated tissues include thyroid, tongue and colon, and related phenotypes are cardiovascular system and endocrine/exocrine gland

Disease Ontology : 12 An autosomal dominant disease characterized by medullary carcinoma of the thyroid, pheochromocytoma, hyperparathyroidism, and occasionally cutaneous lichen amyloidosis.

OMIM : 54 Multiple endocrine neoplasia type IIA is an autosomal dominant syndrome of multiple endocrine neoplasms, including... (171400) more...

UniProtKB/Swiss-Prot : 66 Multiple neoplasia 2A: The most frequent form of medullary thyroid cancer (MTC). It is an inherited cancer syndrome characterized by MTC, phaeochromocytoma and/or hyperparathyroidism.

GeneReviews: NBK1257

Related Diseases for Multiple Endocrine Neoplasia Iia

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 Iia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 81)
id Related Disease Score Top Affiliating Genes
1 pheochromocytoma 28.8 CALCA GDNF MEN1 NF1 RET SDHB
2 adrenal carcinoma 11.1
3 medullary thyroid carcinoma, familial 10.8
4 multiple endocrine neoplasia 1 10.8
5 gastrinoma 10.3 CALCA RET
6 meigel disease 10.3 GDNF RET
7 pemphigus foliaceus 10.3 CALCA MEN1
8 paranasal sinus cancer, adult 10.3 CALCA MEN1
9 hypoparathyroidism-intellectual disability-dysmorphism syndrome 10.2 GDNF RET
10 early-onset parkinson disease 10.2 MEN1 RET
11 restless legs syndrome 7 10.2 CDC73 MEN1
12 multiple endocrine neoplasia 10.2
13 gemistocytic astrocytoma 10.2 CALCA MEN1
14 connective tissue cancer 10.2 CALCA GDNF RET
15 stickler syndrome 10.2 CALCA PTH
16 muscular dystrophy-dystroglycanopathy , type a, 10 10.2 CALCA MEN1 RET
17 macular holes 10.2 MEN1 PTH
18 mitochondrial complex ii deficiency 10.1 MEN1 SDHD
19 cardioauditory syndrome of sanchez cascos 10.1 CALCA MEN1
20 neuropathy, congenital, with arthrogryposis multiplex 10.1 SDHB SDHD
21 hyperparathyroidism, familial primary 10.1 CDC73 MEN1 RET
22 skin pilomatrix carcinoma 10.1 GDNF GFRA1 RET
23 hypophosphatasia, adult 10.1 CALCA PTH
24 paraganglioma and gastric stromal sarcoma 10.1 SDHB SDHD
25 mesenchymal cell neoplasm 10.1 CALCA PTH
26 gastroduodenal crohn's disease 10.1 GDNF GFRA1
27 waardenburg syndrome, type 4b 10.1 CALCA PTH
28 glioma susceptibility 2 10.1 SDHB SDHD
29 keloids 10.1 CALCA MEN1
30 tooth agenesis, selective, 5 10.1 GDNF GFRA1 RET
31 amaurosis congenita, cone-rod type, with congenital hypertrichosis 10.1 SDHB SDHD
32 serous surface papilloma 10.1 SDHB SDHD
33 glomangioma 10.1 SDHB SDHD
34 familial chronic myelocytic leukemia-like syndrome 10.1 CDC73 PTH
35 strabismus 10.1 MEN1 PTH
36 brain ependymoma 10.1 CALCA NF1
37 adult ependymoblastoma 10.1 CALCA MEN1 PTH
38 catastrophic antiphospholipid syndrome 10.1 RET SDHB SDHD
39 acrocapitofemoral dysplasia 10.0 RET SDHB SDHD
40 bone ameloblastoma 10.0 RET SDHB SDHD
41 intravenous leiomyomatosis 10.0 RET SDHB SDHD
42 endocervical adenocarcinoma 10.0 RET SDHB SDHD
43 cardiac arrest 10.0 RET SDHB SDHD
44 glycogen storage disease ic 10.0 SDHB SDHD
45 childhood vagina botryoid rhabdomyosarcoma 10.0 CALCA NF1
46 endocrine gland cancer 10.0 CALCA MEN1 RET SDHD
47 pes anserinus tendinitis or bursitis 10.0 CALCA PTH
48 immune system organ benign neoplasm 10.0 CDC73 MEN1 PTH
49 acrorenal syndrome 10.0 CALCA PTH
50 t-cell large granular lymphocyte leukemia 10.0 MEN1 NF1 RET

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



Diseases related to Multiple Endocrine Neoplasia Iia

Symptoms & Phenotypes for Multiple Endocrine Neoplasia Iia

Symptoms by clinical synopsis from OMIM:

171400

Clinical features from OMIM:

171400

Human phenotypes related to Multiple Endocrine Neoplasia Iia:

56 32 (show top 50) (show all 67)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pruritus 56 32 Occasional (29-5%) HP:0000989
2 constipation 56 32 Frequent (79-30%) HP:0002019
3 fatigue 56 32 Frequent (79-30%) HP:0012378
4 reduced consciousness/confusion 56 32 Occasional (29-5%) HP:0004372
5 tremor 56 32 Occasional (29-5%) HP:0001337
6 abdominal pain 56 32 Frequent (79-30%) HP:0002027
7 diarrhea 56 32 Very frequent (99-80%) HP:0002014
8 nausea and vomiting 56 32 Occasional (29-5%) HP:0002017
9 muscle weakness 56 32 Occasional (29-5%) HP:0001324
10 dry skin 56 32 Frequent (79-30%) HP:0000958
11 bone pain 56 32 Occasional (29-5%) HP:0002653
12 pectus excavatum 56 32 Occasional (29-5%) HP:0000767
13 depression 56 32 Frequent (79-30%) HP:0000716
14 diabetes mellitus 56 32 Frequent (79-30%) HP:0000819
15 hypertension 56 32 Frequent (79-30%) HP:0000822
16 muscular hypotonia 56 32 Occasional (29-5%) HP:0001252
17 hypotension 56 32 Frequent (79-30%) HP:0002615
18 scoliosis 56 32 Occasional (29-5%) HP:0002650
19 kyphosis 56 32 Occasional (29-5%) HP:0002808
20 hyperlordosis 56 32 Occasional (29-5%) HP:0003307
21 dehydration 56 32 Occasional (29-5%) HP:0001944
22 myopathy 56 32 Frequent (79-30%) HP:0003198
23 arrhythmia 56 32 Occasional (29-5%) HP:0011675
24 cleft palate 56 32 Occasional (29-5%) HP:0000175
25 pallor 56 32 Occasional (29-5%) HP:0000980
26 weight loss 56 32 Occasional (29-5%) HP:0001824
27 thick lower lip vermilion 56 32 Frequent (79-30%) HP:0000179
28 joint hyperflexibility 56 32 Occasional (29-5%) HP:0005692
29 corneal dystrophy 56 32 Occasional (29-5%) HP:0001131
30 anxiety 56 32 Frequent (79-30%) HP:0000739
31 pes cavus 56 32 Occasional (29-5%) HP:0001761
32 abnormality of temperature regulation 56 32 Occasional (29-5%) HP:0004370
33 multiple lipomas 56 32 Occasional (29-5%) HP:0001012
34 anorexia 56 32 Occasional (29-5%) HP:0002039
35 paresthesia 56 32 Occasional (29-5%) HP:0003401
36 intestinal obstruction 56 32 Occasional (29-5%) HP:0005214
37 aganglionic megacolon 56 32 Occasional (29-5%) HP:0002251
38 abnormality of the eyelid 56 32 Frequent (79-30%) HP:0000492
39 pheochromocytoma 56 32 Frequent (79-30%) HP:0002666
40 arachnodactyly 56 32 Occasional (29-5%) HP:0001166
41 multiple cafe-au-lait spots 56 32 Occasional (29-5%) HP:0007565
42 irregular hyperpigmentation 56 32 Frequent (79-30%) HP:0007400
43 hypertensive crisis 56 32 Frequent (79-30%) HP:0100735
44 nephrolithiasis 56 32 Occasional (29-5%) HP:0000787
45 hyperparathyroidism 56 32 Occasional (29-5%) HP:0000843
46 benign neoplasm of the central nervous system 56 32 Occasional (29-5%) HP:0100835
47 hypercalcemia 56 32 Occasional (29-5%) HP:0003072
48 skin rash 56 32 Occasional (29-5%) HP:0000988
49 intestinal polyposis 56 32 Occasional (29-5%) HP:0200008
50 lymphadenopathy 56 32 Frequent (79-30%) HP:0002716

MGI Mouse Phenotypes related to Multiple Endocrine Neoplasia Iia:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.08 CDC73 GDNF MEN1 NF1 PTH RET
2 endocrine/exocrine gland MP:0005379 10.01 GDNF MEN1 NF1 PTH RET SDHB
3 mortality/aging MP:0010768 9.97 CDC73 GDNF GFRA1 MEN1 NF1 PTH
4 digestive/alimentary MP:0005381 9.93 CDC73 GDNF GFRA1 MEN1 NF1 RET
5 embryo MP:0005380 9.91 CDC73 GFRA1 MEN1 NF1 RET SDHD
6 immune system MP:0005387 9.91 CDC73 GDNF GFRA1 MEN1 NF1 PTH
7 muscle MP:0005369 9.73 CDC73 GDNF GFRA1 MEN1 NF1 RET
8 nervous system MP:0003631 9.56 GFRA1 MEN1 NF1 RBP3 RET SDHD
9 neoplasm MP:0002006 9.55 MEN1 NF1 RET SDHB SDHD
10 renal/urinary system MP:0005367 9.02 CDC73 GDNF GFRA1 NF1 RET

Drugs & Therapeutics for Multiple Endocrine Neoplasia Iia

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

(show top 50) (show all 380)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Metformin Approved Phase 4,Phase 3,Phase 2 657-24-9 14219 4091
2
Sunitinib Approved, Investigational Phase 4,Phase 2 341031-54-7, 557795-19-4 5329102
3
Insulin Glargine Approved Phase 4 160337-95-1
4
Insulin Lispro Approved Phase 4 133107-64-9
5
Zinc Approved Phase 4,Phase 3 7440-66-6 32051 23994
6
Dexamethasone Approved, Investigational, Vet_approved Phase 4,Phase 1,Phase 2 50-02-2 5743
7
Diazepam Approved, Illicit, Vet_approved Phase 4,Phase 1 439-14-5 3016
8
Cabergoline Approved Phase 4,Phase 3 81409-90-7 54746
9
Dopamine Approved Phase 4,Phase 3,Phase 2 51-61-6, 62-31-7 681
10
Simvastatin Approved Phase 4 79902-63-9 54454
11
Iron Approved Phase 4,Phase 3 7439-89-6 23925
12
Liraglutide Approved Phase 4,Phase 3 204656-20-2
13
Somatostatin Approved Phase 4,Phase 3,Phase 2 38916-34-6, 51110-01-1 53481605
14
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 59-30-3 6037
15
Vitamin C Approved, Nutraceutical Phase 4 50-81-7 5785 54670067
16 Micronutrients Phase 4,Phase 3,Phase 2,Phase 1
17 Trace Elements Phase 4,Phase 3,Phase 2,Phase 1
18 Vitamin B Complex Phase 4,Phase 3,Phase 2,Phase 1
19 Vitamins Phase 4,Phase 3,Phase 2,Phase 1
20 Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1
21 Hormones Phase 4,Phase 3,Phase 2,Phase 1
22 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1
23 Imatinib Mesylate Phase 4 123596
24 Hypoglycemic Agents Phase 4,Phase 3,Phase 2
25 insulin Phase 4,Phase 3,Phase 1,Phase 2
26 Insulin, Globin Zinc Phase 4,Phase 3,Phase 1,Phase 2
27 Antimetabolites Phase 4,Phase 3,Phase 2,Phase 1
28 Hypolipidemic Agents Phase 4
29 Lipid Regulating Agents Phase 4
30 Angiogenesis Inhibitors Phase 4,Phase 3,Phase 2,Phase 1
31 Angiogenesis Modulating Agents Phase 4,Phase 3,Phase 2,Phase 1
32 Insulin, Isophane Phase 4
33 Isophane insulin, beef Phase 4
34 Isophane Insulin, Human Phase 4
35 Anesthetics Phase 4
36 BB 1101 Phase 4,Phase 1,Phase 2
37 Dexamethasone 21-phosphate Phase 4,Phase 1,Phase 2
38 Dexamethasone acetate Phase 4,Phase 1,Phase 2 1177-87-3
39 Antiparkinson Agents Phase 4,Phase 3,Phase 2
40 Dopamine Agents Phase 4,Phase 3,Phase 2
41 Dopamine agonists Phase 4,Phase 3
42 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Phase 1
43 Anticholesteremic Agents Phase 4
44 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4
45 Dipeptidyl-Peptidase IV Inhibitors Phase 4,Phase 3
46 HIV Protease Inhibitors Phase 4,Phase 3,Phase 1,Phase 2
47 Incretins Phase 4,Phase 3
48
protease inhibitors Phase 4,Phase 3,Phase 1,Phase 2
49 Sitagliptin Phosphate Phase 4,Phase 3
50 Ferrous fumarate Phase 4

Interventional clinical trials:

(show top 50) (show all 280)
id Name Status NCT ID Phase
1 Myoinositol for the Treatment of Ovarian and Psychiatric Disorder in Polycystic Ovary Syndrome (PCOS) Patients Unknown status NCT01246310 Phase 4
2 Assessment Of Gh-Igf-1 Axis In Children With Chronic Myelogenous Leukemia (CML) In Remission Unknown status NCT01901666 Phase 4
3 Glargine Versus NPH in Patients With Chronic Kidney Disease Completed NCT02451917 Phase 4
4 Percutaneous Laser Ablation in Benign Thyroid Nodules.Long Term Results Completed NCT00858104 Phase 4
5 Cardiac Valve Complications in Prolactinomas Treated With Cabergoline Completed NCT00460616 Phase 4
6 Body Composition, Glucose Metabolism, Insulin Resistance and Gene Expression in Muscle Cells in Healthy Overweight Women Completed NCT00145392 Phase 4
7 Effects of Metformin Plus Simvastatin on Polycystic Ovarian Syndrome (PCOS): A Prospective, Randomized, Double-Blind, Placebo-Controlled Study Completed NCT01021579 Phase 4
8 Oral Iron vs. Placebo in Newly Diagnosed Gynecologic Oncology Patients Who Are Surgical Candidates. Recruiting NCT01953107 Phase 4
9 Study of Management of Pasireotide-induced Hyperglycemia in Adult Patients With Cushing's Disease or Acromegaly Recruiting NCT02060383 Phase 4
10 Study to Allow Access to Pasireotide for Patients Benefiting From Pasireotide Treatment in a Novartis-sponsored Study. Recruiting NCT01794793 Phase 4
11 A Study Of The Efficacy And Safety Of Sunitinib In Patients With Advanced Well-Differentiated Pancreatic Neuroendocrine Tumors Active, not recruiting NCT01525550 Phase 4
12 Reflexology's Effect on Polycystic Ovary Syndrome (PCOS) Unknown status NCT00744510 Phase 3
13 Reflexology's Effect on Polycystic Ovary Syndrome: A Pilot Study Unknown status NCT00746148 Phase 3
14 Diabetes Prevention Program Outcomes Study Unknown status NCT00038727 Phase 3
15 Cinacalcet to Treat Familial Primary Hyperparathyroidism Completed NCT00325104 Phase 3
16 Study of Lanreotide Autogel in Non-functioning Entero-pancreatic Endocrine Tumours Completed NCT00353496 Phase 3
17 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
18 Comparison of Two Needles (ProCore vs EchoTip) for the Diagnosis of Pancreatic Solid Mass Under EUS Completed NCT01479803 Phase 3
19 Gemcitabine and ON 01910.Na in Previously Untreated Metastatic Pancreatic Cancer Completed NCT01360853 Phase 3
20 Caelyx Plus Carboplatin Versus Paclitaxel Plus Carboplatin in Patients With Epithelial Ovarian Cancer in Late Relapse Completed NCT00189553 Phase 3
21 An Open-label, Multi-center, Expanded Access Study of Pasireotide s.c. in Patients With Cushing's Disease. Completed NCT01582061 Phase 3
22 A Phase I/III Study of D961H 10 mg and 20 mg in Japanese Paediatric Patients With Gastrointestinal Acid Related Diseases Completed NCT02153398 Phase 3
23 Study of Paclitaxel in Patients With Ovarian Cancer Completed NCT00989131 Phase 3
24 PGL4001 Versus Placebo in Uterine Myomas Completed NCT00755755 Phase 3
25 Carboplatin and Paclitaxel With or Without Bevacizumab in Treating Patients With Newly Diagnosed Ovarian Epithelial Cancer, Fallopian Tube Cancer, or Primary Peritoneal Cavity Cancer Completed NCT00483782 Phase 3
26 A Study of Nimotuzumab Combinated With Gemcitabine in K-RAS Wild-type Locally Advanced and Metastatic Pancreatic Cancer Recruiting NCT02395016 Phase 3
27 Randomized, Open Label, Clinical Study of the Targeted Therapy, Palbociclib, to Treat Metastatic Breast Cancer Recruiting NCT02947685 Phase 3
28 A Randomized Controlled Trial of Neoadjuvant Weekly Paclitaxel Versus Weekly Paclitaxel Plus Weekly Carboplatin In Women With Large Operable or Locally Advanced, Triple Negative Breast Cancer Recruiting NCT03168880 Phase 3
29 A Study of Napabucasin Plus Nab-Paclitaxel With Gemcitabine in Adult Patients With Metastatic Pancreatic Adenocarcinoma Recruiting NCT02993731 Phase 3
30 Safety and Efficacy of Clopidogrel in Locally Advanced and Metastatic Pancreatic Adenocarcinoma Treated With Chemotherapy Recruiting NCT02404363 Phase 3
31 Avelumab in Previously Untreated Patients With Epithelial Ovarian Cancer (JAVELIN OVARIAN 100) Recruiting NCT02718417 Phase 3
32 Efficacy and Safety Evaluation of Osilodrostat in Cushing's Disease Recruiting NCT02697734 Phase 3
33 Dopamine Agonist Treatment of Non-functioning Pituitary Adenomas Recruiting NCT02288962 Phase 3
34 Safety and Efficacy of LCI699 for the Treatment of Patients With Cushing's Disease Recruiting NCT02180217 Phase 3
35 Second-Line Adjuvant Therapy With Nab-Paclitaxel Plus Gemcitabine Versus Oxaliplatin Plus Folinic Acid and Fluorouracil for Gemcitabine-Refractory Pancreatic Cancer After Curative Resection Recruiting NCT02506842 Phase 3
36 Study of Efficacy and Safety of LEE011 in Men and Postmenopausal Women With Advanced Breast Cancer. Active, not recruiting NCT02422615 Phase 3
37 An Efficacy Study Comparing ZD6474 to Placebo in Medullary Thyroid Cancer Active, not recruiting NCT00410761 Phase 3
38 Efficacy of XL184 (Cabozantinib) in Advanced Medullary Thyroid Cancer Active, not recruiting NCT00704730 Phase 3
39 Non-functioning Pancreatic Neuroendocrine Tumors in MEN1: Somatostatin Analogs Versus NO Treatment Not yet recruiting NCT02705651 Phase 3
40 [68 Ga]-DOTANOC PET/CT in GEP-NETs Not yet recruiting NCT02608203 Phase 2, Phase 3
41 Efficacy of HIPEC as NACT and Postoperative Chemotherapy in the Treatment of Advanced-Stage Epithelial Ovarian Cancer Not yet recruiting NCT03180177 Phase 3
42 GALLEX 4 - Long-Term Extension Study to Evaluate Tesaglitazar Therapy in Patients With Type 2 Diabetes Terminated NCT00300105 Phase 3
43 GALLANT 9 Tesaglitazar vs. Placebo in Combination With Insulin Terminated NCT00242372 Phase 3
44 GALLANT 5 Tesaglitazar Versus Metformin Terminated NCT00214591 Phase 3
45 GALLANT 2 Tesaglitazar vs. Placebo Terminated NCT00252772 Phase 3
46 GALLANT 8 Tesaglitazar Add-on to Metformin Terminated NCT00251953 Phase 3
47 GALLANT 22 Tesaglitazar vs. Placebo Terminated NCT00252837 Phase 3
48 GALLANT 4 Tesaglitazar vs. Glibenclamide Terminated NCT00255541 Phase 3
49 GALLANT 7 Tesaglitazar Add-on to Sulphonylurea Terminated NCT00251940 Phase 3
50 Moxifloxacin in Preventing Bacterial Infections in Patients Who Have Undergone Donor Stem Cell Transplant Terminated NCT00324324 Phase 3

Search NIH Clinical Center for Multiple Endocrine Neoplasia Iia

Cochrane evidence based reviews: multiple endocrine neoplasia type 2a

Genetic Tests for Multiple Endocrine Neoplasia Iia

Genetic tests related to Multiple Endocrine Neoplasia Iia:

id Genetic test Affiliating Genes
1 Multiple Endocrine Neoplasia, Type 2 29
2 Multiple Endocrine Neoplasia, Type 2a 29
3 Multiple Endocrine Neoplasia Iia 29
4 Multiple Endocrine Neoplasia Type 2 24 RET
5 Multiple Endocrine Neoplasia Type 2a 24

Anatomical Context for Multiple Endocrine Neoplasia Iia

MalaCards organs/tissues related to Multiple Endocrine Neoplasia Iia:

39
Thyroid, Tongue, Colon, Bone, Skin, Adrenal Gland

Publications for Multiple Endocrine Neoplasia Iia

Articles related to Multiple Endocrine Neoplasia Iia:

id Title Authors Year
1
Atypical presentation of pheochromocytoma as part of multiple endocrine neoplasia IIa in pregnancy. ( 14607057 )
2003
2
Total bilateral laparoscopic adrenalectomy in patients with Cushing's syndrome and multiple endocrine neoplasia (IIa). ( 9069136 )
1997
3
Multiple endocrine neoplasia IIA found at autopsy. ( 2882037 )
1987
4
Linkage and chromosome study of multiple endocrine neoplasia IIa. ( 6134579 )
1983
5
Unilateral versus bilateral adrenalectomy in multiple endocrine neoplasia IIA. ( 6135282 )
1983
6
Medullary carcinoma of the thyroid in the multiple endocrine neoplasia IIA syndrome. ( 7282994 )
1981

Variations for Multiple Endocrine Neoplasia Iia

UniProtKB/Swiss-Prot genetic disease variations for Multiple Endocrine Neoplasia Iia:

66 (show all 28)
id Symbol AA change Variation ID SNP ID
1 RET p.Cys609Tyr VAR_006306 rs77939446
2 RET p.Cys611Trp VAR_006308 rs80069458
3 RET p.Cys611Tyr VAR_006309 rs377767397
4 RET p.Cys618Gly VAR_006310 rs76262710
5 RET p.Cys618Arg VAR_006311 rs76262710
6 RET p.Cys618Phe VAR_006312 rs79781594
7 RET p.Cys618Ser VAR_006313 rs79781594
8 RET p.Cys618Tyr VAR_006314 rs79781594
9 RET p.Cys620Gly VAR_006315 rs77316810
10 RET p.Cys620Arg VAR_006316 rs77316810
11 RET p.Cys620Ser VAR_006317 rs77503355
12 RET p.Cys620Phe VAR_006318 rs77503355
13 RET p.Cys620Tyr VAR_006319 rs77503355
14 RET p.Cys630Phe VAR_006320 rs377767405
15 RET p.Cys634Gly VAR_006323 rs75076352
16 RET p.Cys634Phe VAR_006324 rs75996173
17 RET p.Cys634Tyr VAR_006325 rs75996173
18 RET p.Cys634Arg VAR_006326 rs75076352
19 RET p.Cys634Ser VAR_006327 rs75076352
20 RET p.Cys634Trp VAR_006328 rs77709286
21 RET p.Cys609Gly VAR_009470 rs77558292
22 RET p.Cys609Arg VAR_009471 rs77558292
23 RET p.Cys611Arg VAR_009473 rs377767391
24 RET p.Cys611Ser VAR_009474 rs377767391
25 RET p.Cys620Trp VAR_009475 rs79890926
26 RET p.Ala640Gly VAR_009480 rs78935588
27 RET p.Leu790Phe VAR_009482 rs75030001
28 RET p.Tyr791Phe VAR_009483 rs77724903

ClinVar genetic disease variations for Multiple Endocrine Neoplasia Iia:

6 (show all 36)
id Gene Variation Type Significance SNP ID Assembly Location
1 RET NM_020630.4(RET): c.1852T> G (p.Cys618Gly) single nucleotide variant Pathogenic rs76262710 GRCh37 Chromosome 10, 43609096: 43609096
2 RET NM_020975.4(RET): c.1900T> G (p.Cys634Gly) single nucleotide variant Pathogenic rs75076352 GRCh37 Chromosome 10, 43609948: 43609948
3 RET NM_020975.4(RET): c.1901G> A (p.Cys634Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs75996173 GRCh37 Chromosome 10, 43609949: 43609949
4 RET NM_020630.4(RET): c.1901G> C (p.Cys634Ser) single nucleotide variant Pathogenic rs75996173 GRCh37 Chromosome 10, 43609949: 43609949
5 RET NM_020630.4(RET): c.1901G> T (p.Cys634Phe) single nucleotide variant Pathogenic rs75996173 GRCh37 Chromosome 10, 43609949: 43609949
6 RET NM_020630.4(RET): c.1833C> G (p.Cys611Trp) single nucleotide variant Pathogenic rs80069458 GRCh37 Chromosome 10, 43609077: 43609077
7 RET NM_020975.4(RET): c.1853G> C (p.Cys618Ser) single nucleotide variant Pathogenic rs79781594 GRCh37 Chromosome 10, 43609097: 43609097
8 RET NM_020630.4(RET): c.1858T> C (p.Cys620Arg) single nucleotide variant Pathogenic rs77316810 GRCh37 Chromosome 10, 43609102: 43609102
9 RET NM_020630.4(RET): c.1859G> A (p.Cys620Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs77503355 GRCh37 Chromosome 10, 43609103: 43609103
10 RET NM_020975.4(RET): c.1900T> C (p.Cys634Arg) single nucleotide variant Pathogenic/Likely pathogenic rs75076352 GRCh37 Chromosome 10, 43609948: 43609948
11 RET NM_020630.4(RET): c.1902C> G (p.Cys634Trp) single nucleotide variant Pathogenic/Likely pathogenic rs77709286 GRCh37 Chromosome 10, 43609950: 43609950
12 RET NM_020975.4(RET): c.2753T> C (p.Met918Thr) single nucleotide variant Pathogenic/Likely pathogenic rs74799832 GRCh37 Chromosome 10, 43617416: 43617416
13 RET NM_020630.4(RET): c.1859G> T (p.Cys620Phe) single nucleotide variant Pathogenic rs77503355 GRCh37 Chromosome 10, 43609103: 43609103
14 RET NM_020630.4(RET): c.1852T> C (p.Cys618Arg) single nucleotide variant Pathogenic/Likely pathogenic rs76262710 GRCh37 Chromosome 10, 43609096: 43609096
15 RET NM_020630.4(RET): c.2304G> C (p.Glu768Asp) single nucleotide variant Pathogenic/Likely pathogenic rs78014899 GRCh37 Chromosome 10, 43613840: 43613840
16 RET NM_020975.4(RET): c.1826G> A (p.Cys609Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs77939446 GRCh37 Chromosome 10, 43609070: 43609070
17 RET NM_020975.4(RET): c.2370G> C (p.Leu790Phe) single nucleotide variant Pathogenic rs75030001 GRCh37 Chromosome 10, 43613906: 43613906
18 RET NM_020975.4(RET): c.1941C> T (p.Ile647=) single nucleotide variant risk factor rs75225191 GRCh37 Chromosome 10, 43609989: 43609989
19 RET NM_020975.4(RET): c.2410G> A (p.Val804Met) single nucleotide variant Pathogenic rs79658334 GRCh37 Chromosome 10, 43614996: 43614996
20 RET NM_020630.4(RET): c.1597G> T (p.Gly533Cys) single nucleotide variant Pathogenic rs75873440 GRCh37 Chromosome 10, 43607621: 43607621
21 RET NM_020975.4(RET): c.2671T> G (p.Ser891Ala) single nucleotide variant Pathogenic/Likely pathogenic rs75234356 GRCh37 Chromosome 10, 43615592: 43615592
22 RET NM_020630.4(RET): c.1825T> G (p.Cys609Gly) single nucleotide variant Pathogenic rs77558292 GRCh37 Chromosome 10, 43609069: 43609069
23 RET NM_020975.4(RET): c.1853G> A (p.Cys618Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs79781594 GRCh37 Chromosome 10, 43609097: 43609097
24 RET NM_020630.4(RET): c.1888T> C (p.Cys630Arg) single nucleotide variant Pathogenic/Likely pathogenic rs377767404 GRCh37 Chromosome 10, 43609936: 43609936
25 RET NM_020630.4(RET): c.1891_1893delGAC (p.Asp631del) deletion Pathogenic rs377767435 GRCh37 Chromosome 10, 43609939: 43609941
26 RET NM_020630.4(RET): c.1891G> T (p.Asp631Tyr) single nucleotide variant Pathogenic rs377767406 GRCh37 Chromosome 10, 43609939: 43609939
27 RET NM_020630.4(RET): c.1892_1903dupACGAGCTGTGCC (p.Cys634_Arg635insHisGluLeuCys) duplication Pathogenic rs377767436 GRCh37 Chromosome 10, 43609940: 43609951
28 RET NM_020630.4(RET): c.1900_1908dupTGCCGCACG (p.Thr636_Val637insCysArgThr) duplication Pathogenic rs377767437 GRCh37 Chromosome 10, 43609948: 43609956
29 RET NM_020630.4(RET): c.2080C> T (p.Arg694Trp) single nucleotide variant Likely pathogenic rs193922700 GRCh37 Chromosome 10, 43610128: 43610128
30 RET NM_020630.4(RET): c.1826G> C (p.Cys609Ser) single nucleotide variant Pathogenic rs77939446 GRCh37 Chromosome 10, 43609070: 43609070
31 RET NM_020630.4(RET): c.2304G> T (p.Glu768Asp) single nucleotide variant Pathogenic/Likely pathogenic rs78014899 GRCh37 Chromosome 10, 43613840: 43613840
32 RET NM_020630.4(RET): c.2410G> C (p.Val804Leu) single nucleotide variant Pathogenic/Likely pathogenic rs79658334 GRCh37 Chromosome 10, 43614996: 43614996
33 RET NM_020975.4(RET): c.1901_1902delGCinsTG (p.Cys634Leu) indel Pathogenic rs377767409 GRCh37 Chromosome 10, 43609949: 43609950
34 RET NM_020975.4(RET): c.2647_2648delGCinsTT (p.Ala883Phe) indel Pathogenic/Likely pathogenic rs377767429 GRCh37 Chromosome 10, 43615568: 43615569
35 RET NM_020630.4(RET): c.2586_2592delGCAGTAT (p.Met862Ilefs) deletion Pathogenic rs794727130 GRCh37 Chromosome 10, 43615172: 43615178
36 RET NM_020975.4(RET): c.2689C> T (p.Arg897Ter) single nucleotide variant Pathogenic rs1060500759 GRCh38 Chromosome 10, 43120162: 43120162

Cosmic variations for Multiple Endocrine Neoplasia Iia:

9 (show top 50) (show all 65)
id Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA Conf
1 COSM14320 VHL thyroid,NS,carcinoma,medullary carcinoma c.233A>T p.N78I 11
2 COSM965 RET thyroid,NS,carcinoma,medullary carcinoma c.2753T>C p.M918T 11
3 COSM29806 RET thyroid,NS,carcinoma,medullary carcinoma c.1888T>G p.C630G 11
4 COSM29805 RET thyroid,NS,carcinoma,medullary carcinoma c.1859G>C p.C620S 11
5 COSM966 RET thyroid,NS,carcinoma,medullary carcinoma c.1900T>C p.C634R 11
6 COSM29803 RET thyroid,NS,carcinoma,medullary carcinoma c.1852T>C p.C618R 11
7 COSM3437784 RET thyroid,NS,carcinoma,medullary carcinoma c.2206G>A p.G736R 11
8 COSM974 RET thyroid,NS,carcinoma,medullary carcinoma c.1901G>A p.C634Y 11
9 COSM133167 RET thyroid,NS,carcinoma,medullary carcinoma c.2647G>T p.A883S 11
10 COSM975 RET thyroid,NS,carcinoma,medullary carcinoma c.1902C>G p.C634W 11
11 COSM4170226 RET thyroid,NS,carcinoma,medullary carcinoma c.1946C>T p.S649L 11
12 COSM21338 RET thyroid,NS,carcinoma,medullary carcinoma c.2304G>C p.E768D 11
13 COSM963 RET thyroid,NS,carcinoma,medullary carcinoma c.2701G>A p.E901K 11
14 COSM249792 RET thyroid,NS,carcinoma,medullary carcinoma c.2041C>T p.Q681* 11
15 COSM5598719 RET thyroid,NS,carcinoma,medullary carcinoma c.2137G>A p.E713K 11
16 COSM960 RET thyroid,NS,carcinoma,medullary carcinoma c.2650G>A p.E884K 11
17 COSM959 RET thyroid,NS,carcinoma,medullary carcinoma c.2627C>T p.A876V 11
18 COSM961 RET thyroid,NS,carcinoma,medullary carcinoma c.2723G>A p.R908K 11
19 COSM20889 RET thyroid,NS,carcinoma,medullary carcinoma c.2761G>A p.E921K 11
20 COSM964 RET thyroid,NS,carcinoma,medullary carcinoma c.1888T>C p.C630R 11
21 COSM29804 RET thyroid,NS,carcinoma,medullary carcinoma c.1858T>C p.C620R 11
22 COSM971 RET thyroid,NS,carcinoma,medullary carcinoma c.2296C>T p.P766S 11
23 COSM249789 RET thyroid,NS,carcinoma,medullary carcinoma c.2117T>C p.V706A 11
24 COSM980 RET thyroid,NS,carcinoma,medullary carcinoma c.1853G>A p.C618Y 11
25 COSM958 RET thyroid,NS,carcinoma,medullary carcinoma c.2242G>T p.G748C 11
26 COSM918118 RET thyroid,NS,carcinoma,medullary carcinoma c.2038G>A p.A680T 11
27 COSM249791 RET thyroid,NS,carcinoma,medullary carcinoma c.1843G>A p.E615K 11
28 COSM20888 RET thyroid,NS,carcinoma,medullary carcinoma c.2732G>A p.G911D 11
29 COSM29807 RET thyroid,NS,carcinoma,medullary carcinoma c.1902C>T p.C634C 11
30 COSM978 RET thyroid,NS,carcinoma,medullary carcinoma c.1892A>G p.D631G 11
31 COSM249790 RET thyroid,NS,carcinoma,medullary carcinoma c.2680G>A p.G894S 11
32 COSM970 RET thyroid,NS,carcinoma,medullary carcinoma c.2756C>T p.A919V 11
33 COSM584 NRAS thyroid,NS,carcinoma,medullary carcinoma c.182A>G p.Q61R 11
34 COSM583 NRAS thyroid,NS,carcinoma,medullary carcinoma c.182A>T p.Q61L 11
35 COSM1237679 MDC1 thyroid,NS,carcinoma,medullary carcinoma c.6266C>A p.T2089N 11
36 COSM552 KRAS thyroid,NS,carcinoma,medullary carcinoma c.182A>G p.Q61R 11
37 COSM520 KRAS thyroid,NS,carcinoma,medullary carcinoma c.35G>T p.G12V 11
38 COSM518 KRAS thyroid,NS,carcinoma,medullary carcinoma c.34G>C p.G12R 11
39 COSM549 KRAS thyroid,NS,carcinoma,medullary carcinoma c.181C>A p.Q61K 11
40 COSM19900 KRAS thyroid,NS,carcinoma,medullary carcinoma c.437C>T p.A146V 11
41 COSM517 KRAS thyroid,NS,carcinoma,medullary carcinoma c.34G>A p.G12S 11
42 COSM553 KRAS thyroid,NS,carcinoma,medullary carcinoma c.182A>T p.Q61L 11
43 COSM528 KRAS thyroid,NS,carcinoma,medullary carcinoma c.37G>A p.G13S 11
44 COSM27159 KRAS thyroid,NS,carcinoma,medullary carcinoma c.187G>A p.E63K 11
45 COSM554 KRAS thyroid,NS,carcinoma,medullary carcinoma c.183A>C p.Q61H 11
46 COSM499 HRAS thyroid,NS,carcinoma,medullary carcinoma c.182A>G p.Q61R 11
47 COSM486 HRAS thyroid,NS,carcinoma,medullary carcinoma c.37G>C p.G13R 11
48 COSM1732634 HRAS thyroid,NS,carcinoma,medullary carcinoma c.216G>A p.M72I 11
49 COSM498 HRAS thyroid,NS,carcinoma,medullary carcinoma c.182A>T p.Q61L 11
50 COSM496 HRAS thyroid,NS,carcinoma,medullary carcinoma c.181C>A p.Q61K 11

Expression for Multiple Endocrine Neoplasia Iia

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

Pathways for Multiple Endocrine Neoplasia Iia

GO Terms for Multiple Endocrine Neoplasia Iia

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

id Name GO ID Score Top Affiliating Genes
1 mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone) GO:0005749 8.62 SDHB SDHD

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

(show all 20)
id Name GO ID Score Top Affiliating Genes
1 positive regulation of GTPase activity GO:0043547 9.86 GDNF GFRA1 NF1 RET
2 regulation of gene expression GO:0010468 9.72 GDNF NF1 PTH
3 axon guidance GO:0007411 9.67 GDNF GFRA1 RET
4 positive regulation of cAMP biosynthetic process GO:0030819 9.59 CALCA PTH
5 adenylate cyclase-activating G-protein coupled receptor signaling pathway GO:0007189 9.58 CALCA PTH
6 beta-catenin-TCF complex assembly GO:1904837 9.58 CDC73 MEN1
7 ureteric bud development GO:0001657 9.57 GDNF RET
8 negative regulation of fibroblast proliferation GO:0048147 9.54 CDC73 NF1
9 metanephros development GO:0001656 9.52 GDNF NF1
10 tricarboxylic acid cycle GO:0006099 9.51 SDHB SDHD
11 neural crest cell migration GO:0001755 9.48 GDNF RET
12 peripheral nervous system development GO:0007422 9.46 GDNF NF1
13 negative regulation of osteoclast differentiation GO:0045671 9.43 CALCA NF1
14 response to pain GO:0048265 9.4 CALCA RET
15 sympathetic nervous system development GO:0048485 9.37 GDNF NF1
16 positive regulation of ossification GO:0045778 9.32 CALCA PTH
17 positive regulation of extrinsic apoptotic signaling pathway in absence of ligand GO:2001241 9.26 NF1 RET
18 positive regulation of adenylate cyclase activity GO:0045762 9.16 CALCA NF1
19 MAPK cascade GO:0000165 9.02 GDNF GFRA1 MEN1 NF1 RET
20 enteric nervous system development GO:0048484 8.96 GDNF RET

Molecular functions related to Multiple Endocrine Neoplasia Iia according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 Ras guanyl-nucleotide exchange factor activity GO:0005088 9.33 GDNF GFRA1 RET
2 ubiquinone binding GO:0048039 8.96 SDHB SDHD
3 succinate dehydrogenase (ubiquinone) activity GO:0008177 8.62 SDHB SDHD

Sources for Multiple Endocrine Neoplasia Iia

3 CDC
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10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
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