Home
User Guide
What's in a MalaCard Search Guide Our Sources
Analysis Tools
GeneCards GeneAnalytics GeneAlaCart PathCards VarElect TGex
News and Views Disease Lists/Categories
About
About MalaCards Datasets Our Publications Weizmann Institute LifeMap Discovery® Terms of Use MalaCards Team
MEN2A
MCID: MLT160
MIFTS: 70

Multiple Endocrine Neoplasia, Type Iia (MEN2A)

Categories: Cancer diseases, Endocrine diseases, Gastrointestinal diseases, Genetic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
Sources

Aliases & Classifications for Multiple Endocrine Neoplasia, Type Iia

About this section

MalaCards integrated aliases for Multiple Endocrine Neoplasia, Type Iia:

Name: Multiple Endocrine Neoplasia, Type Iia 56
Multiple Endocrine Neoplasia Type 2a 12 52 58 43 15 71
Multiple Endocrine Neoplasia Type 2 74 24 52 58 71
Sipple Syndrome 56 12 74 52 58
Multiple Endocrine Neoplasia Iia 56 29 13 6
Men2a 56 12 58 73
Multiple Endocrine Neoplasia, Type 2 74 29 6
Ptc Syndrome 56 52 58
Men2 52 58 73
Multiple Endocrine Neoplasia, Type 2a 29 6
Men 2a 52 54
Pheochromocytoma and Amyloid-Producing Medullary Thyroid Carcinoma 56
Pheochromocytoma and Amyloid Producing Medullary Thyroid Carcinoma 52
Multiple Endocrine Neoplasia Ii 12
Multiple Neoplasia Type 2 73
Multiple Neoplasia 2a 73
Men-2a Syndrome 52
Men 2 Syndrome 24
Men 2 24

Characteristics:

Orphanet epidemiological data:

58
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;

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
multiple endocrine neoplasia, type iia:
Inheritance autosomal dominant inheritance


GeneReviews:

24
Penetrance The penetrance for mtc, pheochromocytoma, and parathyroid disease varies by men 2 phenotype (see table 2).

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Cancer diseases
Anatomical: Gastrointestinal diseases Endocrine diseases Neuronal diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare gastroenterological diseases
Rare endocrine diseases


Sources

Summaries for Multiple Endocrine Neoplasia, Type Iia

About this section
NIH Rare Diseases : 52 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.

MalaCards based summary : Multiple Endocrine Neoplasia, Type Iia, also known as multiple endocrine neoplasia type 2a, is related to adrenal carcinoma and multiple endocrine neoplasia, type iv. An important gene associated with Multiple Endocrine Neoplasia, Type Iia is RET (Ret Proto-Oncogene), and among its related pathways/superpathways are GDNF-Family Ligands and Receptor Interactions and Carbon metabolism. The drugs Doxazosin and Phenoxybenzamine have been mentioned in the context of this disorder. Affiliated tissues include thyroid, tongue and testes, and related phenotypes are diarrhea and medullary thyroid carcinoma

Disease Ontology : 12 A multiple endocrine neoplasia characterized by medullary carcinoma of the thyroid, pheochromocytoma, hyperparathyroidism, and occasionally cutaneous lichen amyloidosis.

OMIM : 56 Multiple endocrine neoplasia type IIA is an autosomal dominant syndrome of multiple endocrine neoplasms, including medullary thyroid carcinoma (MTC), pheochromocytoma, and parathyroid adenomas. MEN2B (162300), characterized by MTC with or without pheochromocytoma and with characteristic clinical abnormalities such as ganglioneuromas of the lips, tongue and colon, but without hyperparathyroidism, is also caused by mutation in the RET gene (summary by Lore et al., 2001). For a discussion of genetic heterogeneity of multiple endocrine neoplasia, see MEN1 (131100). (171400)

UniProtKB/Swiss-Prot : 73 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.

Wikipedia : 74 Multiple endocrine neoplasia type 2 (also known as "Pheochromocytoma and amyloid producing medullary... more...

GeneReviews: NBK1257
Sources

Related Diseases for Multiple Endocrine Neoplasia, Type Iia

About this section

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

(show top 50) (show all 243)
# Related Disease Score Top Affiliating Genes
1 adrenal carcinoma 32.6 SYP SDHD SDHB MEN1
2 multiple endocrine neoplasia, type iv 32.4 RET MEN1 CDKN1B CDC73
3 thyroid gland medullary carcinoma 31.4 RET MEN1 GDNF CALCA
4 hyperparathyroidism 1 31.0 MEN1 CDC73
5 medullary sponge kidney 31.0 RET GDNF
6 thyroid carcinoma, familial medullary 30.9 VHL RET MEN1 GFRA1 GDNF CALCA
7 ovarian germ cell teratoma 30.9 SYP RET
8 multiple endocrine neoplasia, type iib 30.8 TMEM127 SHC1 SDHD SDHB SDHAF2 RET
9 cellular ependymoma 30.8 SYP MEN1
10 hyperparathyroidism 2 with jaw tumors 30.7 RET MEN1 CDC73
11 papillary carcinoma 30.7 SYP RET CALCA
12 renal hypodysplasia/aplasia 1 30.7 RET GFRA1 GDNF
13 benign ependymoma 30.7 SYP NF1 MEN1
14 malignant pheochromocytoma 30.7 SYP SDHB CALCA
15 megacolon 30.7 RET GFRA1 GDNF
16 familial hypocalciuric hypercalcemia 30.6 RET PTH MEN1 CDC73
17 multinodular goiter 30.6 RET PTH CALCA
18 neuroendocrine carcinoma 30.5 SYP MEN1 CALCA
19 neuroma 30.5 RET NF1 GDNF CALCA
20 hypoparathyroidism 30.5 RET PTH CALCA
21 hirschsprung disease 1 30.4 SYP SHC1 RET GFRA1 GDNF CALCA
22 neurofibromatosis 30.4 VHL SDHD SDHB RET NF1
23 multiple endocrine neoplasia 30.3 VHL SDHC SDHB RET MEN1 GDNF
24 hyperparathyroidism 30.3 RET PTH MEN1 CDKN1B CDC73 CALCA
25 paragangliomas 1 30.3 SDHD SDHC SDHB RET
26 constipation 30.2 RET PTH GDNF CALCA
27 parathyroid gland disease 30.2 RET PTH MEN1 CDC73 CALCA
28 parathyroid carcinoma 30.2 RET PTH MEN1 CDC73 CALCA
29 adenoma 30.2 VHL SYP RET PTH MEN1 CDC73
30 primary hyperparathyroidism 30.0 RET PTH MEN1 CDKN1B CDC73 CALCA
31 cowden syndrome 29.9 SDHD SDHC SDHB RET NF1 MEN1
32 parathyroid adenoma 29.9 RET PTH MEN1 CDKN1B CDC73 CALCA
33 hyperthyroidism 29.8 SDHA PTH CALCA
34 neuroendocrine tumor 29.8 VHL SYP SDHD SDHB RET NF1
35 neurofibromatosis, type i 29.5 VHL SDHD SDHC SDHB RET NF1
36 neuroblastoma 29.5 SYP SHC1 SDHB RET NF1 MEN1
37 gastrointestinal stromal tumor 29.4 SYP SDHD SDHC SDHB SDHA NF1
38 pheochromocytoma-paraganglioma 29.3 VHL TMEM127 SDHD SDHC SDHB SDHA
39 von hippel-lindau syndrome 29.3 VHL TMEM127 SDHD SDHC SDHB RET
40 hereditary paraganglioma-pheochromocytoma syndromes 28.5 VHL TMEM127 SDHD SDHC SDHB SDHAF2
41 thyroid gland cancer 28.4 SYP SHC1 SDHD SDHB RET PTH
42 multiple endocrine neoplasia, type i 28.3 VHL SYP SDHD SDHC SDHB RET
43 paraganglioma 28.2 VHL TMEM127 SYP SDHD SDHC SDHB
44 extra-adrenal pheochromocytoma 28.2 TMEM127 SYP SDHD SDHC SDHB SDHAF2
45 pheochromocytoma 28.1 VHL TMEM127 SYP SHC1 SDHD SDHC
46 carney complex, type 1 11.2
47 adrenal gland pheochromocytoma 10.6
48 thyroid carcinoma 10.6
49 atypical follicular adenoma 10.6 RET CALCA
50 gastrointestinal neuroendocrine benign tumor 10.6 SYP MEN1

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



Diseases related to Multiple Endocrine Neoplasia, Type Iia
Sources

Symptoms & Phenotypes for Multiple Endocrine Neoplasia, Type Iia

About this section

Human phenotypes related to Multiple Endocrine Neoplasia, Type Iia:

58 31 (show top 50) (show all 100)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 diarrhea 58 31 hallmark (90%) Frequent (79-30%) HP:0002014
2 medullary thyroid carcinoma 58 31 very rare (1%) Very frequent (99-80%) HP:0002865
3 anxiety 58 31 frequent (33%) Frequent (79-30%) HP:0000739
4 constipation 58 31 frequent (33%) Occasional (29-5%) HP:0002019
5 hypertensive crisis 58 31 frequent (33%) Frequent (79-30%) HP:0100735
6 pheochromocytoma 58 31 very rare (1%) Frequent (79-30%) HP:0002666
7 myopathy 31 frequent (33%) HP:0003198
8 fatigue 31 frequent (33%) HP:0012378
9 thick lower lip vermilion 31 frequent (33%) HP:0000179
10 dry skin 31 frequent (33%) HP:0000958
11 abdominal pain 31 frequent (33%) HP:0002027
12 depressivity 31 frequent (33%) HP:0000716
13 irregular hyperpigmentation 31 frequent (33%) HP:0007400
14 diabetes mellitus 31 frequent (33%) HP:0000819
15 abnormality of the tongue 31 frequent (33%) HP:0000157
16 abnormal oral mucosa morphology 31 frequent (33%) HP:0011830
17 lymphadenopathy 31 frequent (33%) HP:0002716
18 hypotension 31 frequent (33%) HP:0002615
19 adrenal hyperplasia 31 frequent (33%) HP:0008221
20 neoplasm of the adrenal gland 31 frequent (33%) HP:0100631
21 abnormal eyelid morphology 31 frequent (33%) HP:0000492
22 muscle weakness 58 31 occasional (7.5%) Occasional (29-5%) HP:0001324
23 hyperlordosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0003307
24 pallor 58 31 occasional (7.5%) Frequent (79-30%) HP:0000980
25 aganglionic megacolon 58 31 occasional (7.5%) Occasional (29-5%) HP:0002251
26 nephrolithiasis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000787
27 hypercalcemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0003072
28 muscular hypotonia 31 occasional (7.5%) HP:0001252
29 scoliosis 31 occasional (7.5%) HP:0002650
30 kyphosis 31 occasional (7.5%) HP:0002808
31 reduced consciousness/confusion 31 occasional (7.5%) HP:0004372
32 dehydration 31 occasional (7.5%) HP:0001944
33 arrhythmia 31 occasional (7.5%) HP:0011675
34 weight loss 31 occasional (7.5%) HP:0001824
35 skin rash 31 occasional (7.5%) HP:0000988
36 pruritus 31 occasional (7.5%) HP:0000989
37 tremor 31 occasional (7.5%) HP:0001337
38 cleft palate 31 occasional (7.5%) HP:0000175
39 nausea and vomiting 31 occasional (7.5%) HP:0002017
40 pectus excavatum 31 occasional (7.5%) HP:0000767
41 abnormality of temperature regulation 31 occasional (7.5%) HP:0004370
42 slender long bone 31 occasional (7.5%) HP:0003100
43 multiple lipomas 31 occasional (7.5%) HP:0001012
44 corneal dystrophy 31 occasional (7.5%) HP:0001131
45 anorexia 31 occasional (7.5%) HP:0002039
46 arachnodactyly 31 occasional (7.5%) HP:0001166
47 multiple cafe-au-lait spots 31 occasional (7.5%) HP:0007565
48 hyperparathyroidism 31 occasional (7.5%) HP:0000843
49 joint hyperflexibility 31 occasional (7.5%) HP:0005692
50 benign neoplasm of the central nervous system 31 occasional (7.5%) HP:0100835

Symptoms via clinical synopsis from OMIM:

56
Endocrine Features:
hypertension
hyperparathyroidism
cushing syndrome
c-cell hyperplasia

Laboratory Abnormalities:
elevated calcitonin
pentagastrin stimulation test
increased urinary epinephrine

Abdomen Gastrointestinal:
hirschsprung disease

Neoplasia:
pheochromocytoma
medullary thyroid carcinoma
parathyroid adenoma

Skin Nails Hair Skin:
cutaneous lichen amyloidosis

Clinical features from OMIM:

171400

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

26 (show all 13)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-1 10.04 SHC1
2 Decreased viability GR00055-A-2 10.04 SHC1
3 Decreased viability GR00106-A-0 10.04 MEN1
4 Decreased viability GR00221-A-1 10.04 CDKN1B NF1 RET SDHD VHL
5 Decreased viability GR00221-A-2 10.04 NF1 RET SDHD VHL
6 Decreased viability GR00221-A-4 10.04 NF1 RET SDHD
7 Decreased viability GR00240-S-1 10.04 SDHB
8 Decreased viability GR00249-S 10.04 GFRA1 NF1 RBP3 SDHD SHC1 VHL
9 Decreased viability GR00301-A 10.04 RET VHL
10 Decreased viability GR00381-A-1 10.04 CALCA SDHD
11 Decreased viability GR00386-A-1 10.04 NF1 SYP TMEM127
12 Decreased viability GR00402-S-2 10.04 PGLS RET TMEM127
13 Decreased sensitivity to paclitaxel GR00112-A-0 8.65 NF1

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

45 (show all 16)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.35 CDC73 CDKN1B GDNF GFRA1 MEN1 NF1
2 behavior/neurological MP:0005386 10.3 CDC73 CDKN1B GDNF GFRA1 NF1 RET
3 growth/size/body region MP:0005378 10.27 CDC73 CDKN1B GDNF MEN1 NF1 PTH
4 cardiovascular system MP:0005385 10.25 CDC73 CDKN1B GDNF MEN1 NF1 PTH
5 mortality/aging MP:0010768 10.24 CDC73 CDKN1B GDNF GFRA1 MEN1 NF1
6 endocrine/exocrine gland MP:0005379 10.22 CDC73 CDKN1B GDNF MEN1 NF1 PTH
7 hematopoietic system MP:0005397 10.21 CDC73 CDKN1B GDNF NF1 PTH RET
8 embryo MP:0005380 10.19 CDC73 CDKN1B GFRA1 MEN1 NF1 RET
9 immune system MP:0005387 10.14 CDC73 CDKN1B GDNF GFRA1 MEN1 NF1
10 digestive/alimentary MP:0005381 10.11 CDC73 CDKN1B GDNF GFRA1 MEN1 NF1
11 craniofacial MP:0005382 10.07 CDC73 CDKN1B MEN1 NF1 PTH SDHA
12 muscle MP:0005369 10.02 CDC73 CDKN1B GDNF GFRA1 MEN1 NF1
13 neoplasm MP:0002006 9.96 CDC73 CDKN1B MEN1 NF1 RET SDHB
14 nervous system MP:0003631 9.9 CDC73 CDKN1B GDNF GFRA1 MEN1 NF1
15 normal MP:0002873 9.56 GFRA1 NF1 RET SDHB SDHD SHC1
16 renal/urinary system MP:0005367 9.23 CDC73 CDKN1B GDNF GFRA1 NF1 RET
Sources

Drugs & Therapeutics for Multiple Endocrine Neoplasia, Type Iia

About this section

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

(show top 50) (show all 87)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Doxazosin Approved Phase 4 74191-85-8 3157
2
Phenoxybenzamine Approved Phase 4 59-96-1 4768
3
Everolimus Approved Phase 4 159351-69-6 70789204 6442177
4 Adrenergic alpha-Antagonists Phase 4
5 Antihypertensive Agents Phase 4
6 Adrenergic Agents Phase 4
7 Adrenergic Antagonists Phase 4
8 Vasodilator Agents Phase 4
9 Adrenergic alpha-1 Receptor Antagonists Phase 4
10 Neurotransmitter Agents Phase 4
11 Immunosuppressive Agents Phase 4
12
Cinacalcet Approved Phase 3 226256-56-0 156419
13
Parathyroid hormone Approved, Investigational Phase 3 9002-64-6
14
Iron Approved, Experimental Phase 3 15438-31-0, 7439-89-6 27284 23925
15
Emtricitabine Approved, Investigational Phase 3 143491-57-0 60877
16
Caffeine Approved Phase 3 58-08-2 2519
17
Glucagon Approved Phase 3 16941-32-5
18
Liraglutide Approved Phase 3 204656-20-2 44147092
19
Ethanol Approved Phase 3 64-17-5 702
20
Naltrexone Approved, Investigational, Vet_approved Phase 3 16590-41-3 5360515
21
Tenofovir Experimental, Investigational Phase 3 147127-20-6 464205
22 Hormone Antagonists Phase 3
23 Calcium, Dietary Phase 3
24 Hormones Phase 3
25 Glucagon-Like Peptide 1 Phase 3
26 Vaccines Phase 3
27 Reverse Transcriptase Inhibitors Phase 3
28 Antiviral Agents Phase 3
29 Anti-HIV Agents Phase 3
30 Anti-Infective Agents Phase 3
31 Anti-Retroviral Agents Phase 3
32 Emtricitabine, Tenofovir Disoproxil Fumarate Drug Combination Phase 3
33 Insulin, Globin Zinc Phase 3
34 Hypoglycemic Agents Phase 3
35 insulin Phase 3
36 Phosphodiesterase Inhibitors Phase 3
37 Central Nervous System Stimulants Phase 3
38 Incretins Phase 3
39 Analgesics, Opioid Phase 3
40 Narcotics Phase 3
41 Narcotic Antagonists Phase 3
42
Calcium Nutraceutical Phase 3 7440-70-2 271
43
Amantadine Approved Phase 1, Phase 2 768-94-5 2130
44
Dopamine Approved Phase 1, Phase 2 51-61-6, 62-31-7 681
45
Somatostatin Approved, Investigational Phase 2 38916-34-6, 51110-01-1 53481605
46
Primaquine Approved Phase 1, Phase 2 90-34-6 4908
47
Clotrimazole Approved, Vet_approved Phase 2 23593-75-1 2812
48
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
49
Dronabinol Approved, Illicit Phase 2 1972-08-3 16078
50
Sorafenib Approved, Investigational Phase 2 284461-73-0 216239 406563

Interventional clinical trials:

(show all 48)
# Name Status NCT ID Phase Drugs
1 Pheochromocytoma Randomised Study Comparing Adrenoreceptor Inhibiting Agents for Preoperative Treatment Completed NCT01379898 Phase 4 Phenoxybenzamine;Doxazosin
2 Optical Coherence Tomography Assessment of Gender diVersity In Primary Angioplasty: The OCTAVIA Trial Completed NCT02577965 Phase 4
3 Anal Dysplasia Study of Men Who Have Sex With Men Living With HIV Withdrawn NCT01663558 Phase 4 imiquimod
4 Cinacalcet Actions in Familial Primary Hyperparathyroidism Completed NCT00325104 Phase 3
5 Prospective Randomized Study Comparing the Effect of Phlebotomy and Lifestyle and Diet Advices vs Lifestyle and Diet Advices Only on Glycemia in Patients With Dysmetabolic Liversiderosis Completed NCT01045525 Phase 3
6 An Investigational Vaccine in Reducing the Incidence of Anogenital Warts in Young Men Completed NCT00090285 Phase 3
7 On Demand Antiretroviral Pre-exposure Prophylaxis for HIV Infection in Men Who Have Sex With Men Completed NCT01473472 Phase 3 Truvada;Placebo
8 Effects of Caffeine and Coffee on Resting Metabolic Rate, Comparing Normal Weight Men to Obese Men Completed NCT02751840 Phase 3
9 Liraglutide in the Treatment of Type 1 Diabetes Mellitus Completed NCT01722266 Phase 3 Liraglutide;Placebo
10 Long-acting Naltrexone for Pre-release Prisoners: A Randomized Trial of Mobile Treatment Recruiting NCT02867124 Phase 3 XR-NTX
11 Effects of NMDA-Receptor Antagonism on Hyperalgesia, Opioid Use, and Pain After Radical Prostatectomy in Young and Elderly Patients Unknown status NCT00188383 Phase 1, Phase 2 Amantadine
12 A Phase II, Open-Label Study To Assess The Efficacy and Tolerability of ZD6474 (ZACTIMA™ ) 100 mg Monotherapy In Subjects With Locally Advanced or Metastatic Hereditary Medullary Thyroid Cancer Completed NCT00358956 Phase 2 ZD6474 (vandetanib)
13 Evaluation of (68)Gallium- DOTATATE PET/CT for Detecting Primary and Metastatic Neuroendocrine Tumors Completed NCT01967537 Phase 2 68Gallium DOTATATE
14 Determining a Tolerable Dose of Primaquine in G6PD-deficient Persons Without Malaria in Mali Completed NCT02535767 Phase 1, Phase 2 Primaquine
15 A Single Center, Investigator-blinded Study of the Efficacy of Topical Cyclosporine 0.05% Ophthalmic Suspension (RESTASIS®) Under Occlusion Versus Vehicle in the Treatment of Brittle Nail Syndrome Completed NCT01064830 Phase 2 topical cyclosporine ophthalmic suspension 0.05%;vehicle
16 A Phase II Double-Blind Placebo-Controlled Trial of Dronabinol and BRENDA for the Treatment of Cannabis Withdrawal Completed NCT00480441 Phase 2 Dronabinol;Placebo
17 Phase II Study of Sorafenib (BAY 43-9006) in Patients With Metastatic Medullary Thyroid Carcinoma Active, not recruiting NCT00390325 Phase 2 Sorafenib;Sorafenib Tosylate
18 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
19 Nattokinase Atherothrombotic Prevention Study Active, not recruiting NCT02080520 Phase 2
20 A Randomized Phase II Study to Evaluate the Efficacy and Safety of Cetuximab in Metastatic Penile Carcinoma Withdrawn NCT02014831 Phase 2 Cetuximab;TIP
21 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
22 Impact of Obstructive Sleep Apnea Syndrome on Metabolic Syndrome in Severe Obesity Unknown status NCT01029561
23 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
24 GLP-1: Acute Effects on Kidney Function in Healthy Men Completed NCT01333163
25 A Culturally Tailored Intervention to Prevent Diabetes in American Indian Men Completed NCT02952352
26 Predictors of Antiretroviral Pharmacokinetics in HIV-infected Women With Virologic Suppression on Combination Antiretroviral Therapy Completed NCT00433979 antiretroviral treatment
27 Cardiovascular Risk in Patients With Non-Functional Adrenal Incidentaloma: Myth or Reality? Completed NCT00768365
28 Assessing Physical Fitness Effect on the Different Oxidative Stress Measurements, at Rest and After Acute Exercise Completed NCT01296490
29 Metabolic Imprints of Alcoholic Beverages Completed NCT03384147
30 Réseau Structurant Sur le Cancer de la Prostate du Grand Ouest Completed NCT03214315
31 Post-exercise Recovery After Dietary Protein Ingestion in Healthy Young Men Completed NCT01578590
32 Vitamin D Status and Intakes and Their Association With Cognitive Trajectory in a Longitudinal Study of Urban Adults Completed NCT03320109
33 An Assessment of Public Health Effectiveness of Approaches to Promote Key Family & Community Behaviors for Child Survival Completed NCT00979797
34 A Pilot Study to Introduce Male Circumcision (MC) Services to Prevent HIV Infection in Two High Prevalence Areas of the Dominican Republic (DR) Completed NCT02337179
35 Growing up Safe and Healthy( SAFE): Addressing Sexual and Reproductive Health and Rights and Violence Against Women and Girls in Urban Bangladesh Completed NCT03280680
36 Longitudinal Assessment and Natural History Study of Children and Adults With MEN2A or MEN2B With or Without Medullary Thyroid Carcinoma Recruiting NCT01660984
37 Coordination of Rare Diseases at Sanford Recruiting NCT01793168
38 Familial Investigations of Childhood Cancer Predisposition Recruiting NCT03050268
39 Registry for Multiple Endocrine Neoplasia Syndromes: MEN1/MEN2 Recruiting NCT03048279
40 Diagnostic Value of 18F-Fluorocholine PET/CT for the Detection of Medullary Thyroid Cancer Recruiting NCT03643055
41 Alcohol and Violence Prevention for College Students Recruiting NCT04089137
42 Home-based Interventions to Test and Start (HITS): a Cluster-randomized Controlled Trial to Reduce Mortality and Incidence Through HIV Treatment Recruiting NCT03757104
43 MOCHA Moving Forward: a CBPR Investigation of Chronic Disease Prevention in Older, Low-income African-American Men Recruiting NCT03745703
44 Surgical Sperm Retrieval in Non-obstructive Azoospermic Men: Microdissection Testicular Sperm Extraction vs. Multiple Needle-pass Percutaneous Testicular Sperm Aspiration Recruiting NCT03550716
45 Psychosocial Aspects of Multiple Endocrine Neoplasia (MEN) Syndromes Active, not recruiting NCT00501449
46 Outcomes of Patients With Advanced Neuroendocrine Cancer (NEN) Treated With Systemic Treatment: Somatostatin Analogues, Molecular Targeted Therapy, Chemotherapy and Peptide Radioisotope Therapy - a Retrospective Analysis. Active, not recruiting NCT04331912
47 Assessing the Effects of Auricular Acupressure on Newborn Behaviors and Withdrawal Signs in Newborns With Neonatal Abstinence Syndrome: A Pilot Study Enrolling by invitation NCT03890562
48 Understanding and Reducing HIV Risk Behavior and Substance Use Among Self-identified Bisexual Adolescent Men Not yet recruiting NCT03409328

Search NIH Clinical Center for Multiple Endocrine Neoplasia, Type Iia

Cochrane evidence based reviews: multiple endocrine neoplasia type 2a

Sources

Genetic Tests for Multiple Endocrine Neoplasia, Type Iia

About this section

Genetic tests related to Multiple Endocrine Neoplasia, Type Iia:

# Genetic test Affiliating Genes
1 Multiple Endocrine Neoplasia, Type 2 29
2 Multiple Endocrine Neoplasia, Type 2a 29 RET
3 Multiple Endocrine Neoplasia Iia 29
Sources

Anatomical Context for Multiple Endocrine Neoplasia, Type Iia

About this section

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

40
Thyroid, Tongue, Testes, Colon, Bone, Liver, Skin
Sources

Publications for Multiple Endocrine Neoplasia, Type Iia

About this section

Articles related to Multiple Endocrine Neoplasia, Type Iia:

(show top 50) (show all 854)
# Title Authors PMID Year
1
Guidelines for diagnosis and therapy of MEN type 1 and type 2. 56 24 6
11739416 2001
2
Identification of the Cys634-->Tyr mutation of the RET proto-oncogene in a pedigree with multiple endocrine neoplasia type 2A and localized cutaneous lichen amyloidosis. 56 6 54 61
7914213 1994
3
Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A. 61 54 56 6
8099202 1993
4
A MEN2A family with two asymptomatic carriers affected by unilateral renal agenesis. 61 6 56
24152999 2014
5
A novel point mutation of the RET protooncogene involving the second intracellular tyrosine kinase domain in a family with medullary thyroid carcinoma. 6 61 24
15240641 2004
6
A novel Val648Ile substitution in RET protooncogene observed in a Cys634Arg multiple endocrine neoplasia type 2A kindred presenting with an adrenocorticotropin-producing pheochromocytoma. 61 24 6
12466368 2002
7
Multiple endocrine neoplasia type 2 syndromes may be associated with renal malformations. 56 6
11454140 2001
8
A novel 9-base pair duplication in RET exon 8 in familial medullary thyroid carcinoma. 61 24 6
10323403 1999
9
A new hot spot for mutations in the ret protooncogene causing familial medullary thyroid carcinoma and multiple endocrine neoplasia type 2A. 6 24 61
9506724 1998
10
A novel point mutation in the intracellular domain of the ret protooncogene in a family with medullary thyroid carcinoma. 61 6 24
9398735 1997
11
A Cys634Gly substitution of the RET proto-oncogene in a family with recurrence of multiple endocrine neoplasia type 2A and cutaneous lichen amyloidosis. 61 24 6
9111993 1997
12
Prevalence and parental origin of de novo RET mutations in multiple endocrine neoplasia type 2A and familial medullary thyroid carcinoma. Le Groupe d'Etude des Tumeurs a Calcitonine. 56 61 24
8981969 1997
13
Defects in the kidney and enteric nervous system of mice lacking the tyrosine kinase receptor Ret. 56 6
8114940 1994
14
Medullary thyroid cancer: management guidelines of the American Thyroid Association. 6 24
19469690 2009
15
Pheochromocytoma and medullary thyroid carcinoma: a new genotype-phenotype correlation of the RET protooncogene 891 germline mutation. 6 24
15292360 2004
16
Germ-line mutations in nonsyndromic pheochromocytoma. 6 24
12000816 2002
17
Atypical MEN type 2B associated with two germline RET mutations on the same allele not involving codon 918. 6 24
11788682 2002
18
Germline sequence variant S836S in the RET proto-oncogene is associated with low level predisposition to sporadic medullary thyroid carcinoma in the Spanish population. 6 24
11589684 2001
19
Genotype-phenotype correlations in hereditary medullary thyroid carcinoma: oncological features and biochemical properties. 24 6
11238493 2001
20
Loss of heterozygosity at the RET protooncogene locus in a case of multiple endocrine neoplasia type 2A. 54 56 61
11232007 2001
21
A novel case of multiple endocrine neoplasia type 2A associated with two de novo mutations of the RET protooncogene. 6 61 54
10522989 1999
22
The relationship between specific RET proto-oncogene mutations and disease phenotype in multiple endocrine neoplasia type 2. International RET mutation consortium analysis. 24 6
8918855 1996
23
RET mutations in exons 13 and 14 of FMTC patients. 61 54 6
7784092 1995
24
Parent-of-origin effects in multiple endocrine neoplasia type 2B. 24 6
7977365 1994
25
Germline RET mutations in MEN 2A and FMTC and their detection by simple DNA diagnostic tests. 6 61 54
7915165 1994
26
The clinical implications of a positive calcitonin test for C-cell hyperplasia in genetically unaffected members of an MEN2A kindred. 56 54 61
8094268 1993
27
Prophylactic thyroidectomy in multiple endocrine neoplasia type 2A. 61 56
16162881 2005
28
Germline homozygous mutations at codon 804 in the RET protooncogene in medullary thyroid carcinoma/multiple endocrine neoplasia type 2A patients. 6 61
15741265 2005
29
Frequent association between MEN 2A and cutaneous lichen amyloidosis. 61 54 24
12864791 2003
30
Segregation of the V804L mutation and S836S polymorphism of exon 14 of the RET gene in an extended kindred with familial medullary thyroid cancer. 61 6
12694233 2003
31
Localization of medullary thyroid carcinoma metastasis in a multiple endocrine neoplasia type 2A patient by 6-[18F]-fluorodopamine positron emission tomography. 56 61
12574193 2003
32
Genetic analysis of RET, GFR alpha 1 and GDNF genes in Spanish families with multiple endocrine neoplasia type 2A. 24 54 61
11979448 2002
33
Mutational analysis of the RET proto-oncogene in a kindred with multiple endocrine neoplasia type 2A and Hirschsprung's disease. 61 54 24
10549772 1999
34
Analysis of RET proto-oncogene abnormalities in patients with MEN 2A, MEN 2B, familial or sporadic medullary thyroid carcinoma. 6 54
9699127 1998
35
Full activation of MEN2B mutant RET by an additional MEN2A mutation or by ligand GDNF stimulation. 6 54
9620546 1998
36
A duplication of 12 bp in the critical cysteine rich domain of the RET proto-oncogene results in a distinct phenotype of multiple endocrine neoplasia type 2A. 54 61 24
9097963 1997
37
Mutation of RET codon 768 is associated with the FMTC phenotype. 6 61
9111992 1997
38
Familial medullary thyroid carcinoma: not a distinct entity? Genotype-phenotype correlation in a large family. 61 54 24
9003111 1996
39
RET mutation screening in familial cutaneous lichen amyloidosis and in skin amyloidosis associated with multiple endocrine neoplasia. 61 6
8757765 1996
40
Mutation of the RET protooncogene in sporadic medullary thyroid carcinoma. 6 54
7536460 1995
41
Activation of RET as a dominant transforming gene by germline mutations of MEN2A and MEN2B. 6 54
7824936 1995
42
Specific mutations of the RET proto-oncogene are related to disease phenotype in MEN 2A and FMTC. 6 54
7907913 1994
43
Mutations in the RET proto-oncogene are associated with MEN 2A and FMTC. 6 61
8103403 1993
44
Genetic linkage studies map the multiple endocrine neoplasia type 2 loci to a small interval on chromosome 10q11.2. 56 54
8098977 1993
45
Localisation of the gene for multiple endocrine neoplasia type 2A to a 480 kb region in chromosome band 10q11.2. 61 56
8098978 1993
46
Genetic analysis of 24 French families with multiple endocrine neoplasia type 2A. 56 61
1353939 1992
47
A cluster of CpG islands at D10S94, near the locus responsible for multiple endocrine neoplasia type 2A (MEN2A). 56 61
1351867 1992
48
Identification and characterization of a gene at D10S94 in the MEN2A region. 61 56
1351868 1992
49
Sipple syndrome with lichen amyloidosis as a paracrinopathy: pleiotropy, heterogeneity, or a contiguous gene? 61 56
1686438 1991
50
The gene for MEN 2A is tightly linked to the centromere of chromosome 10. 56 61
1673115 1991
Sources

Variations for Multiple Endocrine Neoplasia, Type Iia

About this section

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

6 (show top 50) (show all 926) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 RET NM_020975.6(RET):c.2689C>T (p.Arg897Ter)SNV Pathogenic 405536 rs1060500759 10:43615610-43615610 10:43120162-43120162
2 RET NM_020975.6(RET):c.1513_1518del (p.Glu505_Gly506del)deletion Pathogenic 549770 rs1554818555 10:43606903-43606908 10:43111455-43111460
3 RET NM_020975.6(RET):c.1545C>G (p.Cys515Trp)SNV Pathogenic 549772 rs1554818626 10:43607569-43607569 10:43112121-43112121
4 RET NM_020975.6(RET):c.1857_1858delinsTC (p.Cys620Arg)indel Pathogenic 549779 rs1554818784 10:43609101-43609102 10:43113653-43113654
5 RET NM_020975.6(RET):c.1783G>T (p.Glu595Ter)SNV Pathogenic 657955 10:43609027-43609027 10:43113579-43113579
6 RET NM_020975.6(RET):c.268G>T (p.Glu90Ter)SNV Pathogenic 642786 10:43596101-43596101 10:43100653-43100653
7 RET NM_020975.6(RET):c.1997A>C (p.Lys666Thr)SNV Pathogenic 549801 rs377767439 10:43610045-43610045 10:43114597-43114597
8 RET NM_020975.6(RET):c.2121T>A (p.Asp707Glu)SNV Pathogenic 549805 rs1554818959 10:43610169-43610169 10:43114721-43114721
9 RET NM_020975.6(RET):c.1900T>G (p.Cys634Gly)SNV Pathogenic 13908 rs75076352 10:43609948-43609948 10:43114500-43114500
10 RET NM_020975.6(RET):c.1901G>T (p.Cys634Phe)SNV Pathogenic 13911 rs75996173 10:43609949-43609949 10:43114501-43114501
11 RET NM_020975.6(RET):c.1901G>A (p.Cys634Tyr)SNV Pathogenic 13909 rs75996173 10:43609949-43609949 10:43114501-43114501
12 RET NM_020975.6(RET):c.1901G>C (p.Cys634Ser)SNV Pathogenic 13910 rs75996173 10:43609949-43609949 10:43114501-43114501
13 RET NM_020975.6(RET):c.1853G>C (p.Cys618Ser)SNV Pathogenic 13914 rs79781594 10:43609097-43609097 10:43113649-43113649
14 RET NM_020975.6(RET):c.1858T>C (p.Cys620Arg)SNV Pathogenic 13915 rs77316810 10:43609102-43609102 10:43113654-43113654
15 RET NM_020975.6(RET):c.1859G>A (p.Cys620Tyr)SNV Pathogenic 13916 rs77503355 10:43609103-43609103 10:43113655-43113655
16 RET NM_020975.6(RET):c.1900T>C (p.Cys634Arg)SNV Pathogenic 13917 rs75076352 10:43609948-43609948 10:43114500-43114500
17 RET NM_020975.6(RET):c.1902C>G (p.Cys634Trp)SNV Pathogenic 13918 rs77709286 10:43609950-43609950 10:43114502-43114502
18 RET NM_020975.6(RET):c.2753T>C (p.Met918Thr)SNV Pathogenic 13919 rs74799832 10:43617416-43617416 10:43121968-43121968
19 RET NM_020975.6(RET):c.1859G>T (p.Cys620Phe)SNV Pathogenic 13928 rs77503355 10:43609103-43609103 10:43113655-43113655
20 RET NM_020975.6(RET):c.1852T>C (p.Cys618Arg)SNV Pathogenic 13929 rs76262710 10:43609096-43609096 10:43113648-43113648
21 RET NM_020975.6(RET):c.1892_1903dup (p.Arg635_Thr636insHisGluLeuCys)duplication Pathogenic 13930 rs377767436 10:43609939-43609940 10:43114491-43114492
22 RET NM_020975.6(RET):c.1826G>A (p.Cys609Tyr)SNV Pathogenic 13933 rs77939446 10:43609070-43609070 10:43113622-43113622
23 RET NM_020975.6(RET):c.1919C>G (p.Ala640Gly)SNV Pathogenic 13942 rs78935588 10:43609967-43609967 10:43114519-43114519
24 RET NM_020975.6(RET):c.1860C>G (p.Cys620Trp)SNV Pathogenic 13934 rs79890926 10:43609104-43609104 10:43113656-43113656
25 RET NM_020975.6(RET):c.1859G>C (p.Cys620Ser)SNV Pathogenic 13943 rs77503355 10:43609103-43609103 10:43113655-43113655
26 RET NM_020975.6(RET):c.1833C>G (p.Cys611Trp)SNV Pathogenic 13913 rs80069458 10:43609077-43609077 10:43113629-43113629
27 RET NM_020975.6(RET):c.1852T>G (p.Cys618Gly)SNV Pathogenic 13905 rs76262710 10:43609096-43609096 10:43113648-43113648
28 RET NM_020975.6(RET):c.1825T>C (p.Cys609Arg)SNV Pathogenic 13944 rs77558292 10:43609069-43609069 10:43113621-43113621
29 RET NM_020975.6(RET):c.1597G>T (p.Gly533Cys)SNV Pathogenic 13950 rs75873440 10:43607621-43607621 10:43112173-43112173
30 RET NM_020975.6(RET):c.2410G>T (p.Val804Leu)SNV Pathogenic 13946 rs79658334 10:43614996-43614996 10:43119548-43119548
31 RET NM_020975.6(RET):c.2671T>G (p.Ser891Ala)SNV Pathogenic 13951 rs75234356 10:43615592-43615592 10:43120144-43120144
32 RET NM_020975.6(RET):c.1831T>G (p.Cys611Gly)SNV Pathogenic 24897 rs377767391 10:43609075-43609075 10:43113627-43113627
33 RET NM_020975.6(RET):c.1832G>A (p.Cys611Tyr)SNV Pathogenic 24898 rs377767397 10:43609076-43609076 10:43113628-43113628
34 RET NM_020975.6(RET):c.1832G>T (p.Cys611Phe)SNV Pathogenic 24899 rs377767397 10:43609076-43609076 10:43113628-43113628
35 RET NM_020975.6(RET):c.1853G>A (p.Cys618Tyr)SNV Pathogenic 24901 rs79781594 10:43609097-43609097 10:43113649-43113649
36 RET NM_020975.6(RET):c.1853G>T (p.Cys618Phe)SNV Pathogenic 24902 rs79781594 10:43609097-43609097 10:43113649-43113649
37 RET NM_020975.6(RET):c.1854C>G (p.Cys618Trp)SNV Pathogenic 24903 rs377767400 10:43609098-43609098 10:43113650-43113650
38 RET NM_020975.6(RET):c.1858T>G (p.Cys620Gly)SNV Pathogenic 24905 rs77316810 10:43609102-43609102 10:43113654-43113654
39 RET NM_020975.6(RET):c.1825T>G (p.Cys609Gly)SNV Pathogenic 24894 rs77558292 10:43609069-43609069 10:43113621-43113621
40 RET NM_020975.6(RET):c.1888T>C (p.Cys630Arg)SNV Pathogenic 24908 rs377767404 10:43609936-43609936 10:43114488-43114488
41 RET NM_020975.6(RET):c.1889G>A (p.Cys630Tyr)SNV Pathogenic 24909 rs377767405 10:43609937-43609937 10:43114489-43114489
42 RET NM_020975.6(RET):c.1889G>T (p.Cys630Phe)SNV Pathogenic 24911 rs377767405 10:43609937-43609937 10:43114489-43114489
43 RET NM_020975.6(RET):c.1891G>T (p.Asp631Tyr)SNV Pathogenic 24914 rs377767406 10:43609939-43609939 10:43114491-43114491
44 RET NM_020975.6(RET):c.1906delinsGACCTGTGCCGCC (p.Thr636delinsAspLeuCysArgPro)indel Pathogenic 24925 rs377767438 10:43609954-43609954 10:43114506-43114506
45 RET NM_020975.6(RET):c.1900_1908dup (p.Cys634_Thr636dup)duplication Pathogenic 24926 rs377767437 10:43609946-43609947 10:43114498-43114499
46 RET NM_020975.6(RET):c.1998delinsTTCT (p.Lys666delinsAsnSer)indel Pathogenic 24933 rs377767440 10:43610046-43610046 10:43114598-43114598
47 RET NM_020975.6(RET):c.2735G>C (p.Arg912Pro)SNV Pathogenic 24968 rs78347871 10:43617398-43617398 10:43121950-43121950
48 RET NM_020975.6(RET):c.1826G>T (p.Cys609Phe)SNV Pathogenic 38284 rs77939446 10:43609070-43609070 10:43113622-43113622
49 RET NM_020975.6(RET):c.1544_1545delinsCT (p.Cys515Ser)indel Pathogenic 38617 rs377767389 10:43607568-43607569 10:43112120-43112121
50 RET NM_020975.6(RET):c.1832_1833delinsAT (p.Cys611Tyr)indel Pathogenic 38619 rs377767398 10:43609076-43609077 10:43113628-43113629

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

73 (show all 28)
# 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

Cosmic variations for Multiple Endocrine Neoplasia, Type Iia:

9
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)		 Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM140206582 large intestine,colon,carcinoma,medullary carcinoma c.877G>A p.A293T 17:39710457-39710457 0
Sources

Expression for Multiple Endocrine Neoplasia, Type Iia

About this section
Search GEO for disease gene expression data for Multiple Endocrine Neoplasia, Type Iia.
Sources

Pathways for Multiple Endocrine Neoplasia, Type Iia

About this section

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

# Super pathways Score Top Affiliating Genes
1
GDNF-Family Ligands and Receptor Interactions 63
Show member pathways
 11.93 SHC1 RET GFRA1 GDNF
2
Carbon metabolism 36
Show member pathways
 11.88 SDHD SDHC SDHB SDHA PGLS
3
Pyruvate metabolism and Citric Acid (TCA) cycle 65
Show member pathways
 11.74 SDHD SDHC SDHB SDHA
4
Citrate cycle (TCA cycle) 36
Show member pathways
 11.57 SDHD SDHC SDHB SDHA
5
Aryl Hydrocarbon Receptor 1
11.23 RET NF1 CDKN1B
6
Signaling events regulated by Ret tyrosine kinase 1
10.5 SHC1 RET GFRA1 GDNF
7
RNAi Pathway 63
9.73 SHC1 RET GFRA1 GDNF
Sources

GO Terms for Multiple Endocrine Neoplasia, Type Iia

About this section

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

# Name GO ID Score Top Affiliating Genes
1 respiratory chain complex II GO:0045273 8.96 SDHC SDHB
2 mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone) GO:0005749 8.92 SDHD SDHC SDHB SDHA

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of apoptotic process GO:0043066 9.88 VHL SHC1 GDNF CDKN1B CDC73
2 axon guidance GO:0007411 9.73 SHC1 RET GFRA1 GDNF
3 negative regulation of cell proliferation GO:0008285 9.73 VHL TMEM127 NF1 MEN1 CDKN1B CDC73
4 electron transport chain GO:0022900 9.67 SDHC SDHB SDHA
5 MAPK cascade GO:0000165 9.63 SHC1 RET NF1 MEN1 GFRA1 GDNF
6 negative regulation of epithelial cell proliferation GO:0050680 9.54 MEN1 CDKN1B CDC73
7 sympathetic nervous system development GO:0048485 9.52 NF1 GDNF
8 enteric nervous system development GO:0048484 9.51 RET GDNF
9 positive regulation of extrinsic apoptotic signaling pathway in absence of ligand GO:2001241 9.46 RET NF1
10 glial cell-derived neurotrophic factor receptor signaling pathway GO:0035860 9.4 RET GFRA1
11 tricarboxylic acid cycle GO:0006099 9.35 SDHD SDHC SDHB SDHAF2 SDHA
12 succinate metabolic process GO:0006105 9.32 SDHB SDHA
13 mitochondrial electron transport, succinate to ubiquinone GO:0006121 8.92 SDHD SDHC SDHAF2 SDHA

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

# Name GO ID Score Top Affiliating Genes
1 ubiquinone binding GO:0048039 9.26 SDHD SDHB
2 electron transfer activity GO:0009055 9.26 SDHD SDHC SDHB SDHA
3 succinate dehydrogenase (ubiquinone) activity GO:0008177 9.16 SDHB SDHA
4 succinate dehydrogenase activity GO:0000104 8.8 SDHD SDHC SDHA
Sources

Sources for Multiple Endocrine Neoplasia, Type Iia

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
Content
Loading form....