MCID: MLT024
MIFTS: 62

Multiple Endocrine Neoplasia Iia

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

Aliases & Classifications for Multiple Endocrine Neoplasia Iia

MalaCards integrated aliases for Multiple Endocrine Neoplasia Iia:

Name: Multiple Endocrine Neoplasia Iia 54 29 13
Multiple Endocrine Neoplasia Type 2a 12 50 24 56 42 14 69
Multiple Endocrine Neoplasia Type 2 23 50 24 56 69
Sipple Syndrome 12 50 24 56
Men2a 12 24 56 71
Men2 50 24 56 71
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 2a 29
Multiple Endocrine Neoplasia, Type 2 29
Multiple Endocrine Neoplasia Ii 12
Multiple Neoplasia Type 2 71
Multiple Neoplasia 2a 71
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;

OMIM:

54
Inheritance:
autosomal dominant


HPO:

32
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:



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 medullary thyroid carcinoma, familial and pheochromocytoma, and has symptoms including scoliosis, diarrhea and tremor. 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 Bevacizumab and Carboplatin 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

UniProtKB/Swiss-Prot : 71 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.

OMIM : 54
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)

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

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 86)
id Related Disease Score Top Affiliating Genes
1 medullary thyroid carcinoma, familial 30.8 CALCA GDNF GFRA1 MEN1 RET
2 pheochromocytoma 27.2 CALCA GDNF MEN1 NF1 RET SDHB
3 multiple endocrine neoplasia iib 26.1 CALCA CDC73 GDNF GFRA1 MEN1 NF1
4 adrenal carcinoma 11.1
5 hereditary paraganglioma-pheochromocytoma syndromes 11.1
6 megalocytic interstitial nephritis 10.7 GDNF RET
7 pemphigus foliaceus 10.7 CALCA MEN1
8 pandas 10.7 CALCA MEN1
9 hypogonadotropic hypogonadism without anosmia, x-linked 10.7 GDNF RET
10 iris mixed cell melanoma 10.6 CALCA MEN1
11 early-onset parkinson disease 10.6 MEN1 RET
12 hyperparathyroidism 3 10.6 CDC73 MEN1
13 carcinoma of unknown primary site, childhood 10.6 CALCA MEN1
14 nodular prostate 10.5 CALCA RET
15 kartagener syndrome 10.5 CALCA MEN1
16 ileocolitis 10.5 GDNF GFRA1
17 hypochondrogenesis 10.5 CALCA PTH
18 childhood intracortical osteosarcoma 10.5 MEN1 PTH
19 cowden syndrome 3 10.4 MEN1 SDHD
20 waardenburg syndrome, type 4b 10.4 CALCA PTH
21 shprintzen-goldberg syndrome 10.4 GDNF RET
22 xanthomatosis 10.4 CALCA PTH
23 brain angioma 10.4 MEN1 PTH
24 hypophosphatasia, adult 10.4 CALCA PTH
25 frontotemporal dementia and/or amyotrophic lateral sclerosis 4 10.4 CALCA MEN1 RET
26 connective tissue cancer 10.4 CALCA GDNF RET
27 anal canal squamous cell carcinoma 10.4 CALCA PTH
28 polyglucosan body disease, adult form 10.4 CALCA PTH
29 bacillary angiomatosis 10.3 CALCA PTH
30 pes anserinus tendinitis or bursitis 10.3 CALCA PTH
31 carcinoid tumors, intestinal 10.3 SDHB SDHD
32 wolffian duct adenocarcinoma 10.3 GDNF GFRA1 RET
33 neurogenic hypertension 10.3 SDHB SDHD
34 hyperparathyroidism-jaw tumor syndrome 10.3 CDC73 MEN1 RET
35 rete ovarii cystadenoma 10.3 SDHB SDHD
36 paraganglioma and gastric stromal sarcoma 10.3 SDHB SDHD
37 uterine corpus endometrial carcinoma 10.3 SDHB SDHD
38 vestibulocochlear nerve disease 10.3 GDNF RET
39 methylmalonic acidemia due to transcobalamin receptor defect 10.3 CDC73 PTH
40 mercaptolactate-cysteine disulfiduria 10.3 SDHB SDHD
41 myasthenic syndrome, congenital, 21, presynaptic 10.3 GDNF GFRA1 RET
42 serous surface papilloma 10.3 SDHB SDHD
43 skin benign neoplasm 10.3 MEN1 SDHB
44 childhood optic nerve glioma 10.2 CDC73 MEN1 RET
45 multiple endocrine neoplasia 10.2
46 glomangioma 10.2 SDHB SDHD
47 endocrine gland cancer 10.2 CALCA MEN1 SDHD
48 mixed cell type adenoma of parathyroid 10.2 CALCA MEN1 PTH
49 tinea unguium 10.2 CALCA PTH
50 cervical keratinizing squamous cell carcinoma 10.2 CALCA NF1

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 via clinical synopsis from OMIM:

54

Endocrine Features:
hypertension
hyperparathyroidism
cushing syndrome
c-cell hyperplasia

Abdomen- Gastroin testinal:
hirschsprung disease

Laboratory- Abnormalities:
increased urinary epinephrine
elevated calcitonin
pentagastrin stimulation test

Neoplasia:
medullary thyroid carcinoma
pheochromocytoma
parathyroid adenoma

Skin Nails & Hair- Skin:
cutaneous lichen amyloidosis


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 scoliosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0002650
2 diarrhea 56 32 hallmark (90%) Very frequent (99-80%) HP:0002014
3 tremor 56 32 occasional (7.5%) Occasional (29-5%) HP:0001337
4 nephrolithiasis 56 32 occasional (7.5%) Occasional (29-5%) HP:0000787
5 kyphosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0002808
6 cleft palate 56 32 occasional (7.5%) Occasional (29-5%) HP:0000175
7 fatigue 56 32 frequent (33%) Frequent (79-30%) HP:0012378
8 muscle weakness 56 32 occasional (7.5%) Occasional (29-5%) HP:0001324
9 depression 56 32 frequent (33%) Frequent (79-30%) HP:0000716
10 pes cavus 56 32 occasional (7.5%) Occasional (29-5%) HP:0001761
11 myopathy 56 32 frequent (33%) Frequent (79-30%) HP:0003198
12 pectus excavatum 56 32 occasional (7.5%) Occasional (29-5%) HP:0000767
13 constipation 56 32 frequent (33%) Frequent (79-30%) HP:0002019
14 hypertension 56 32 Frequent (79-30%) HP:0000822
15 bone pain 56 32 occasional (7.5%) Occasional (29-5%) HP:0002653
16 arrhythmia 56 32 occasional (7.5%) Occasional (29-5%) HP:0011675
17 medullary thyroid carcinoma 56 32 hallmark (90%) Very frequent (99-80%) HP:0002865
18 dry skin 56 32 frequent (33%) Frequent (79-30%) HP:0000958
19 abdominal pain 56 32 frequent (33%) Frequent (79-30%) HP:0002027
20 diabetes mellitus 56 32 frequent (33%) Frequent (79-30%) HP:0000819
21 lymphadenopathy 56 32 frequent (33%) Frequent (79-30%) HP:0002716
22 hyperparathyroidism 56 32 occasional (7.5%) Occasional (29-5%) HP:0000843
23 hypercalcemia 56 32 occasional (7.5%) Occasional (29-5%) HP:0003072
24 intestinal obstruction 56 32 occasional (7.5%) Occasional (29-5%) HP:0005214
25 tall stature 56 32 occasional (7.5%) Occasional (29-5%) HP:0000098
26 joint hyperflexibility 56 32 occasional (7.5%) Occasional (29-5%) HP:0005692
27 arachnodactyly 56 32 occasional (7.5%) Occasional (29-5%) HP:0001166
28 hyperlordosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0003307
29 patellar aplasia 56 32 occasional (7.5%) Occasional (29-5%) HP:0006443
30 muscular hypotonia 56 32 occasional (7.5%) Occasional (29-5%) HP:0001252
31 dehydration 56 32 occasional (7.5%) Occasional (29-5%) HP:0001944
32 weight loss 56 32 occasional (7.5%) Occasional (29-5%) HP:0001824
33 pruritus 56 32 occasional (7.5%) Occasional (29-5%) HP:0000989
34 anxiety 56 32 frequent (33%) Frequent (79-30%) HP:0000739
35 pheochromocytoma 56 32 frequent (33%) Frequent (79-30%) HP:0002666
36 hypotension 56 32 frequent (33%) Frequent (79-30%) HP:0002615
37 skin rash 56 32 occasional (7.5%) Occasional (29-5%) HP:0000988
38 pallor 56 32 occasional (7.5%) Occasional (29-5%) HP:0000980
39 anorexia 56 32 occasional (7.5%) Occasional (29-5%) HP:0002039
40 thick lower lip vermilion 56 32 frequent (33%) Frequent (79-30%) HP:0000179
41 adrenal hyperplasia 56 32 frequent (33%) Frequent (79-30%) HP:0008221
42 aganglionic megacolon 56 32 occasional (7.5%) Occasional (29-5%) HP:0002251
43 paresthesia 56 32 occasional (7.5%) Occasional (29-5%) HP:0003401
44 ganglioneuroma 56 32 occasional (7.5%) Occasional (29-5%) HP:0003005
45 multiple cafe-au-lait spots 56 32 occasional (7.5%) Occasional (29-5%) HP:0007565
46 corneal dystrophy 56 32 occasional (7.5%) Occasional (29-5%) HP:0001131
47 nausea and vomiting 56 32 occasional (7.5%) Occasional (29-5%) HP:0002017
48 edema of the lower limbs 56 32 occasional (7.5%) Occasional (29-5%) HP:0010741
49 irregular hyperpigmentation 56 32 frequent (33%) Frequent (79-30%) HP:0007400
50 reduced consciousness/confusion 56 32 occasional (7.5%) Occasional (29-5%) HP:0004372

MGI Mouse Phenotypes related to Multiple Endocrine Neoplasia Iia:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.06 CDC73 GDNF MEN1 NF1 PTH RET
2 endocrine/exocrine gland MP:0005379 9.97 SDHD CDC73 GDNF MEN1 NF1 PTH
3 mortality/aging MP:0010768 9.97 CDC73 GDNF GFRA1 MEN1 NF1 PTH
4 digestive/alimentary MP:0005381 9.91 CDC73 GDNF GFRA1 MEN1 NF1 RET
5 embryo MP:0005380 9.88 CDC73 GFRA1 MEN1 NF1 RET SDHD
6 muscle MP:0005369 9.73 CDC73 GDNF GFRA1 MEN1 NF1 RET
7 nervous system MP:0003631 9.56 GFRA1 MEN1 NF1 RBP3 RET SDHD
8 neoplasm MP:0002006 9.55 MEN1 NF1 RET SDHB SDHD
9 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 63)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bevacizumab Approved, Investigational Phase 3 216974-75-3
2
Carboplatin Approved Phase 3 41575-94-4 10339178 498142 38904
3
Paclitaxel Approved, Vet_approved Phase 3,Phase 1,Phase 2 33069-62-4 36314
4
Fluorouracil Approved Phase 3,Phase 2 51-21-8 3385
5
Gemcitabine Approved Phase 3,Phase 1,Phase 2 95058-81-4 60750
6
Levoleucovorin Approved Phase 3,Phase 2 68538-85-2
7
Oxaliplatin Approved, Investigational Phase 3 61825-94-3 5310940 9887054 43805 6857599
8
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3,Phase 2,Phase 1 59-30-3 6037
9
leucovorin Approved, Nutraceutical Phase 3,Phase 2,Phase 1 58-05-9 143 6006
10 Albumin-Bound Paclitaxel Phase 3,Phase 1,Phase 2
11 Angiogenesis Inhibitors Phase 3
12 Angiogenesis Modulating Agents Phase 3
13 Antimitotic Agents Phase 3,Phase 1,Phase 2
14 Antineoplastic Agents, Phytogenic Phase 3,Phase 1,Phase 2
15 Immunosuppressive Agents Phase 3,Phase 2,Phase 1
16 Antidotes Phase 3,Phase 2
17 Anti-Infective Agents Phase 3,Phase 1,Phase 2
18 Antimetabolites Phase 3,Phase 1,Phase 2
19 Antimetabolites, Antineoplastic Phase 3,Phase 1,Phase 2
20 Antiviral Agents Phase 3,Phase 1,Phase 2
21 Hematinics Phase 3,Phase 2,Phase 1
22 Micronutrients Phase 3,Phase 2,Phase 1
23 Protective Agents Phase 3,Phase 2
24 Trace Elements Phase 3,Phase 2,Phase 1
25 Vitamin B Complex Phase 3,Phase 2,Phase 1
26 Vitamins Phase 3,Phase 2,Phase 1
27 Folate Nutraceutical Phase 3,Phase 2,Phase 1
28 Vitamin B9 Nutraceutical Phase 3,Phase 2,Phase 1
29
Radium Ra 223 dichloride Approved, Investigational Phase 2 444811-40-9
30
Cisplatin Approved Phase 1, Phase 2 15663-27-1 84093 441203 2767
31
Nelfinavir Approved Phase 2 159989-64-7 64143
32
Capecitabine Approved, Investigational Phase 2 154361-50-9 60953
33
Zoledronic acid Approved Phase 2 118072-93-8 68740
34
Imidazole Experimental Phase 2 288-32-4 795
35 Diphosphonates Phase 2
36 taxane Phase 1, Phase 2
37 Antibodies Phase 2
38 Antibodies, Bispecific Phase 2
39 Immunoglobulins Phase 2
40 Muromonab-CD3 Phase 2
41 Hormones Phase 2
42 Antibodies, Monoclonal Phase 2
43 Anti-HIV Agents Phase 2
44 Anti-Retroviral Agents Phase 2
45 Bone Density Conservation Agents Phase 2
46 Calcium, Dietary Phase 2
47 HIV Protease Inhibitors Phase 2
48
protease inhibitors Phase 2
49
Sorafenib Approved, Investigational Phase 1 284461-73-0 216239 406563
50
Vorinostat Approved, Investigational Phase 1 149647-78-9 5311

Interventional clinical trials:

(show all 14)

id Name Status NCT ID Phase Drugs
1 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 carboplatin;paclitaxel
2 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 nab-paclitaxel;gemcitabine;oxaliplatin;folinic acid;fluorouracil
3 BAY88-8223, Alpharadin, Breast Cancer Patients With Bone Dominant Disease Completed NCT01070485 Phase 2 Radium-223 chloride (BAY88-8223)
4 Phenoxodiol Combined With Either Cisplatin or Paclitaxel in Patients With Recurrent Ovarian Epithelial, Fallopian Tube, or Primary Peritoneal Cancer Completed NCT00091377 Phase 1, Phase 2 cisplatin;paclitaxel;phenoxodiol
5 Randomized, Multicenter, 2-Dose Level. Open-Label, Phase IIa Study With the Intraperitoneally Infused Trifunctional Bispecific Antibody Removab(TM) (Anti-EpCAM x Anti-CD3) to Select the Better Dose Level in Platinum Refractory Epithelial Ovarian Cancer Pa Completed NCT00189345 Phase 2
6 A Study of AZD4901 in Females With Polycystic Ovary Syndrome Completed NCT01872078 Phase 2 AZD4901 (oral);Placebo to match AZD4901
7 LOAd703 Oncolytic Virus Therapy for Pancreatic Cancer Recruiting NCT02705196 Phase 1, Phase 2 Gemcitabine;nab-paclitaxel
8 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 Fluorouracil;Gemcitabine Hydrochloride;Leucovorin Calcium;Nelfinavir Mesylate
9 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 Capecitabine;Fluorouracil;Zoledronic Acid
10 Neoadjuvant Chemotherapy Followed by Radiation Therapy and Gemcitabine/Sorafenib/Vorinostat in Pancreatic Cancer Recruiting NCT02349867 Phase 1 Gemcitabine;Sorafenib;Vorinostat
11 Vaccine Therapy and Cyclophosphamide in Treating Patients With Stage II-III Breast or Stage II-IV Ovarian, Primary Peritoneal, or Fallopian Tube Cancer Active, not recruiting NCT01606241 Phase 1 Cyclophosphamide
12 Open Label Trial of Perifosine in Patients Currently Being Treated on Perifosine Trials in Solid Tumors or Multiple Myeloma Unknown status NCT00847366 Perifosine;Perifosine;Perifosine;Perifosine;Perifosine
13 Electronic Monitoring Device of Patient-Reported Outcomes and Function in Improving Patient-Centered Care in Patients With Gastrointestinal Cancer Undergoing Surgery Active, not recruiting NCT02511821
14 Patient Derived Cancer Cell Lines in Identifying Molecular Changes in Patients With Previously Untreated Pancreatic Cancer Receiving Gemcitabine Hydrochloride-Based Chemotherapy Withdrawn NCT02414100

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, Breast, 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
Unilateral versus bilateral adrenalectomy in multiple endocrine neoplasia IIA. ( 6135282 )
1983
5
Linkage and chromosome study of multiple endocrine neoplasia IIa. ( 6134579 )
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:

71 (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 38)
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.2944C> T (p.Arg982Cys) single nucleotide variant risk factor rs17158558 GRCh37 Chromosome 10, 43620335: 43620335
19 RET NM_020975.4(RET): c.1941C> T (p.Ile647=) single nucleotide variant risk factor rs75225191 GRCh37 Chromosome 10, 43609989: 43609989
20 RET NM_020975.4(RET): c.135G> A (p.Ala45=) single nucleotide variant risk factor rs1800858 GRCh37 Chromosome 10, 43595968: 43595968
21 RET NM_020975.4(RET): c.2410G> A (p.Val804Met) single nucleotide variant Pathogenic/Likely pathogenic rs79658334 GRCh37 Chromosome 10, 43614996: 43614996
22 RET NM_020630.4(RET): c.1597G> T (p.Gly533Cys) single nucleotide variant Pathogenic rs75873440 GRCh37 Chromosome 10, 43607621: 43607621
23 RET NM_020975.4(RET): c.2671T> G (p.Ser891Ala) single nucleotide variant Pathogenic/Likely pathogenic rs75234356 GRCh37 Chromosome 10, 43615592: 43615592
24 RET NM_020630.4(RET): c.1825T> G (p.Cys609Gly) single nucleotide variant Pathogenic rs77558292 GRCh37 Chromosome 10, 43609069: 43609069
25 RET NM_020975.4(RET): c.1853G> A (p.Cys618Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs79781594 GRCh37 Chromosome 10, 43609097: 43609097
26 RET NM_020630.4(RET): c.1888T> C (p.Cys630Arg) single nucleotide variant Pathogenic/Likely pathogenic rs377767404 GRCh37 Chromosome 10, 43609936: 43609936
27 RET NM_020630.4(RET): c.1891_1893delGAC (p.Asp631del) deletion Pathogenic rs377767435 GRCh37 Chromosome 10, 43609939: 43609941
28 RET NM_020630.4(RET): c.1891G> T (p.Asp631Tyr) single nucleotide variant Pathogenic rs377767406 GRCh37 Chromosome 10, 43609939: 43609939
29 RET NM_020630.4(RET): c.1892_1903dupACGAGCTGTGCC (p.Cys634_Arg635insHisGluLeuCys) duplication Pathogenic rs377767436 GRCh37 Chromosome 10, 43609940: 43609951
30 RET NM_020630.4(RET): c.1900_1908dupTGCCGCACG (p.Thr636_Val637insCysArgThr) duplication Pathogenic rs377767437 GRCh37 Chromosome 10, 43609948: 43609956
31 RET NM_020630.4(RET): c.2080C> T (p.Arg694Trp) single nucleotide variant Likely pathogenic rs193922700 GRCh37 Chromosome 10, 43610128: 43610128
32 RET NM_020630.4(RET): c.1826G> C (p.Cys609Ser) single nucleotide variant Pathogenic rs77939446 GRCh37 Chromosome 10, 43609070: 43609070
33 RET NM_020630.4(RET): c.2304G> T (p.Glu768Asp) single nucleotide variant Pathogenic/Likely pathogenic rs78014899 GRCh37 Chromosome 10, 43613840: 43613840
34 RET NM_020630.4(RET): c.2410G> C (p.Val804Leu) single nucleotide variant Pathogenic/Likely pathogenic rs79658334 GRCh37 Chromosome 10, 43614996: 43614996
35 RET NM_020975.4(RET): c.1901_1902delGCinsTG (p.Cys634Leu) indel Pathogenic rs377767409 GRCh37 Chromosome 10, 43609949: 43609950
36 RET NM_020975.4(RET): c.2647_2648delGCinsTT (p.Ala883Phe) indel Pathogenic/Likely pathogenic rs377767429 GRCh37 Chromosome 10, 43615568: 43615569
37 RET NM_020630.4(RET): c.2586_2592delGCAGTAT (p.Met862Ilefs) deletion Pathogenic rs794727130 GRCh37 Chromosome 10, 43615172: 43615178
38 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 80)
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 COSM29805 RET thyroid,NS,carcinoma,medullary carcinoma c.1859G>C p.C620S 11
3 COSM965 RET thyroid,NS,carcinoma,medullary carcinoma c.2753T>C p.M918T 11
4 COSM970 RET thyroid,NS,carcinoma,medullary carcinoma c.2756C>T p.A919V 11
5 COSM6005498 RET thyroid,NS,carcinoma,medullary carcinoma c.1886T>A p.L629Q 11
6 COSM966 RET thyroid,NS,carcinoma,medullary carcinoma c.1900T>C p.C634R 11
7 COSM975 RET thyroid,NS,carcinoma,medullary carcinoma c.1902C>G p.C634W 11
8 COSM5945757 RET thyroid,NS,carcinoma,medullary carcinoma c.2180G>A p.G727E 11
9 COSM5945758 RET thyroid,NS,carcinoma,medullary carcinoma c.1804A>G p.I602V 11
10 COSM29804 RET thyroid,NS,carcinoma,medullary carcinoma c.1858T>C p.C620R 11
11 COSM5945763 RET thyroid,NS,carcinoma,medullary carcinoma c.1983C>T p.H661H 11
12 COSM958 RET thyroid,NS,carcinoma,medullary carcinoma c.2242G>T p.G748C 11
13 COSM964 RET thyroid,NS,carcinoma,medullary carcinoma c.1888T>C p.C630R 11
14 COSM5946160 RET thyroid,NS,carcinoma,medullary carcinoma c.1858T>A p.C620S 11
15 COSM1237918 RET thyroid,NS,carcinoma,medullary carcinoma c.1900T>A p.C634S 11
16 COSM21338 RET thyroid,NS,carcinoma,medullary carcinoma c.2304G>C p.E768D 11
17 COSM4170226 RET thyroid,NS,carcinoma,medullary carcinoma c.1946C>T p.S649L 11
18 COSM974 RET thyroid,NS,carcinoma,medullary carcinoma c.1901G>A p.C634Y 11
19 COSM20888 RET thyroid,NS,carcinoma,medullary carcinoma c.2732G>A p.G911D 11
20 COSM3437784 RET thyroid,NS,carcinoma,medullary carcinoma c.2206G>A p.G736R 11
21 COSM980 RET thyroid,NS,carcinoma,medullary carcinoma c.1853G>A p.C618Y 11
22 COSM5945762 RET thyroid,NS,carcinoma,medullary carcinoma c.2249C>G p.A750G 11
23 COSM249791 RET thyroid,NS,carcinoma,medullary carcinoma c.1843G>A p.E615K 11
24 COSM918118 RET thyroid,NS,carcinoma,medullary carcinoma c.2038G>A p.A680T 11
25 COSM29803 RET thyroid,NS,carcinoma,medullary carcinoma c.1852T>C p.C618R 11
26 COSM133167 RET thyroid,NS,carcinoma,medullary carcinoma c.2647G>T p.A883S 11
27 COSM959 RET thyroid,NS,carcinoma,medullary carcinoma c.2627C>T p.A876V 11
28 COSM29807 RET thyroid,NS,carcinoma,medullary carcinoma c.1902C>T p.C634C 11
29 COSM249789 RET thyroid,NS,carcinoma,medullary carcinoma c.2117T>C p.V706A 11
30 COSM249790 RET thyroid,NS,carcinoma,medullary carcinoma c.2680G>A p.G894S 11
31 COSM6005497 RET thyroid,NS,carcinoma,medullary carcinoma c.1924G>A p.V642I 11
32 COSM249792 RET thyroid,NS,carcinoma,medullary carcinoma c.2041C>T p.Q681* 11
33 COSM5945770 RET thyroid,NS,carcinoma,medullary carcinoma c.2733T>G p.G911G 11
34 COSM960 RET thyroid,NS,carcinoma,medullary carcinoma c.2650G>A p.E884K 11
35 COSM5945755 RET thyroid,NS,carcinoma,medullary carcinoma c.2771T>C p.F924S 11
36 COSM963 RET thyroid,NS,carcinoma,medullary carcinoma c.2701G>A p.E901K 11
37 COSM5598719 RET thyroid,NS,carcinoma,medullary carcinoma c.2137G>A p.E713K 11
38 COSM5945761 RET thyroid,NS,carcinoma,medullary carcinoma c.2256C>T p.Y752Y 11
39 COSM5945760 RET thyroid,NS,carcinoma,medullary carcinoma c.2752A>C p.M918L 11
40 COSM961 RET thyroid,NS,carcinoma,medullary carcinoma c.2723G>A p.R908K 11
41 COSM978 RET thyroid,NS,carcinoma,medullary carcinoma c.1892A>G p.D631G 11
42 COSM971 RET thyroid,NS,carcinoma,medullary carcinoma c.2296C>T p.P766S 11
43 COSM29806 RET thyroid,NS,carcinoma,medullary carcinoma c.1888T>G p.C630G 11
44 COSM20889 RET thyroid,NS,carcinoma,medullary carcinoma c.2761G>A p.E921K 11
45 COSM583 NRAS thyroid,NS,carcinoma,medullary carcinoma c.182A>T p.Q61L 11
46 COSM584 NRAS thyroid,NS,carcinoma,medullary carcinoma c.182A>G p.Q61R 11
47 COSM1237679 MDC1 thyroid,NS,carcinoma,medullary carcinoma c.6266C>A p.T2089N 11
48 COSM520 KRAS thyroid,NS,carcinoma,medullary carcinoma c.35G>T p.G12V 11
49 COSM552 KRAS thyroid,NS,carcinoma,medullary carcinoma c.182A>G p.Q61R 11
50 COSM518 KRAS thyroid,NS,carcinoma,medullary carcinoma c.34G>C p.G12R 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 9.7 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 ureteric bud development GO:0001657 9.58 GDNF RET
7 beta-catenin-TCF complex assembly GO:1904837 9.57 CDC73 MEN1
8 negative regulation of fibroblast proliferation GO:0048147 9.55 CDC73 NF1
9 metanephros development GO:0001656 9.54 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 adenylate cyclase activity GO:0045762 9.26 CALCA NF1
18 positive regulation of extrinsic apoptotic signaling pathway in absence of ligand GO:2001241 9.16 NF1 RET
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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