MCID: MLT160
MIFTS: 65

Multiple Endocrine Neoplasia, Type Iia

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

Aliases & Classifications for Multiple Endocrine Neoplasia, Type Iia

MalaCards integrated aliases for Multiple Endocrine Neoplasia, Type Iia:

Name: Multiple Endocrine Neoplasia, Type Iia 57
Multiple Endocrine Neoplasia Type 2a 12 53 59 44 15 73
Multiple Endocrine Neoplasia Type 2 76 24 53 59 73
Sipple Syndrome 57 12 76 53 59
Multiple Endocrine Neoplasia Iia 57 29 13 6
Men2a 57 12 59 75
Multiple Endocrine Neoplasia, Type 2 76 29 6
Ptc Syndrome 57 53 59
Men2 53 59 75
Multiple Endocrine Neoplasia, Type 2a 29 6
Men 2a 53 55
Pheochromocytoma and Amyloid-Producing Medullary Thyroid Carcinoma 57
Pheochromocytoma and Amyloid Producing Medullary Thyroid Carcinoma 53
Multiple Endocrine Neoplasia Ii 12
Multiple Neoplasia Type 2 75
Multiple Neoplasia 2a 75
Men-2a Syndrome 53
Men2 Syndrome 24
Men 2 24

Characteristics:

Orphanet epidemiological data:

59
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:

57
Inheritance:
autosomal dominant


HPO:

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


GeneReviews:

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

Classifications:



Summaries for Multiple Endocrine Neoplasia, Type Iia

NIH Rare Diseases : 53 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 multiple endocrine neoplasia, type iib and medullary sponge kidney. An important gene associated with Multiple Endocrine Neoplasia, Type 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 Calcimimetic Agents and Calcium, Dietary have been mentioned in the context of this disorder. Affiliated tissues include thyroid, tongue and colon, and related phenotypes are pectus excavatum and depressivity

OMIM : 57 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 : 75 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.

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

Wikipedia : 76 Multiple endocrine neoplasia type 2 (MEN2) (also known as \"Pheochromocytoma and amyloid producing... more...

GeneReviews: NBK1257

Related Diseases for Multiple Endocrine Neoplasia, Type Iia

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 89)
# Related Disease Score Top Affiliating Genes
1 multiple endocrine neoplasia, type iib 31.8 CALCA GDNF GFRA1 MEN1 RET
2 medullary sponge kidney 31.0 GDNF RET
3 thyroid carcinoma, familial medullary 29.3 CALCA GDNF GFRA1 MEN1 RET
4 phaeochromocytoma 28.5 NF1 RET SDHB SDHD
5 paraganglioma 28.5 NF1 RET SDHB SDHD
6 multiple endocrine neoplasia 28.5 CALCA GDNF MEN1 NF1 RET SDHB
7 pheochromocytoma 27.0 CALCA GDNF MEN1 NF1 RET SDHB
8 pancreatic somatostatinoma 10.7 CALCA MEN1
9 multiple endocrine neoplasia, type iv 10.7 MEN1 RET
10 hypoganglionosis 10.7 GDNF RET
11 pancreatic cholera 10.7 CALCA MEN1
12 hyperparathyroidism 3 10.6 CDC73 MEN1
13 carcinoid syndrome 10.6 CALCA MEN1
14 ectopic cushing syndrome 10.6 MEN1 RET
15 hyperparathyroidism 1 10.6 CDC73 MEN1
16 nodular goiter 10.6 CALCA RET
17 islet cell tumor 10.5 CALCA MEN1
18 goldberg-shprintzen syndrome 10.5 GDNF RET
19 jejunoileitis 10.5 GDNF GFRA1
20 fibrogenesis imperfecta ossium 10.5 CALCA PTH
21 parathyroid transitional clear cell adenoma 10.5 MEN1 PTH
22 carcinoid tumors, intestinal 10.5 MEN1 SDHD
23 hypercalcemia, infantile, 1 10.5 CALCA PTH
24 osteitis fibrosa 10.4 CALCA PTH
25 clear cell adenoma 10.4 MEN1 PTH
26 hypophosphatasia, adult 10.4 CALCA PTH
27 constipation 10.4 CALCA GDNF RET
28 pyloric stenosis 10.4 GDNF RET
29 cloacogenic carcinoma 10.4 CALCA PTH
30 glucocorticoid-induced osteoporosis 10.4 CALCA PTH
31 secondary hyperparathyroidism of renal origin 10.3 CALCA PTH
32 metaphyseal chondrodysplasia, jansen type 10.3 CALCA PTH
33 colonic disease 10.3 GDNF GFRA1 RET
34 neural crest tumor 10.3 SDHB SDHD
35 hyperparathyroidism 2 with jaw tumors 10.3 CDC73 MEN1 RET
36 megacolon 10.3 GDNF GFRA1 RET
37 paragangliomas 1 10.3 SDHB SDHD
38 extra-adrenal pheochromocytoma 10.3 SDHB SDHD
39 familial hypocalciuric hypercalcemia 10.3 CDC73 PTH
40 chondroma 10.3 SDHB SDHD
41 paraganglioma and gastric stromal sarcoma 10.3 SDHB SDHD
42 persistent generalized lymphadenopathy 10.2 SDHB SDHD
43 hirschsprung disease 1 10.2 GDNF GFRA1 RET
44 lipomatosis 10.2 MEN1 SDHB
45 renal osteodystrophy 10.2 CALCA PTH
46 carney triad 10.2 SDHB SDHD
47 adenoma 10.2 CDC73 MEN1 RET
48 glomus tumor 10.2 SDHB SDHD
49 neuroendocrine tumor 10.2 CALCA MEN1 SDHD
50 mineral metabolism disease 10.2 CALCA PTH

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



Diseases related to Multiple Endocrine Neoplasia, Type Iia

Symptoms & Phenotypes for Multiple Endocrine Neoplasia, Type Iia

Symptoms via clinical synopsis from OMIM:

57
Endocrine Features:
hypertension
hyperparathyroidism
cushing syndrome
c-cell hyperplasia

Laboratory Abnormalities:
elevated calcitonin
pentagastrin stimulation test
increased urinary epinephrine

Skin Nails Hair Skin:
cutaneous lichen amyloidosis

Neoplasia:
pheochromocytoma
parathyroid adenoma
medullary thyroid carcinoma

Abdomen Gastrointestinal:
hirschsprung disease


Clinical features from OMIM:

171400

Human phenotypes related to Multiple Endocrine Neoplasia, Type Iia:

59 32 (show top 50) (show all 69)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pectus excavatum 59 32 occasional (7.5%) Occasional (29-5%) HP:0000767
2 depressivity 59 32 frequent (33%) Frequent (79-30%) HP:0000716
3 diabetes mellitus 59 32 frequent (33%) Frequent (79-30%) HP:0000819
4 hypertension 59 32 Frequent (79-30%) HP:0000822
5 muscular hypotonia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001252
6 muscle weakness 59 32 occasional (7.5%) Occasional (29-5%) HP:0001324
7 tremor 59 32 occasional (7.5%) Occasional (29-5%) HP:0001337
8 nausea and vomiting 59 32 occasional (7.5%) Occasional (29-5%) HP:0002017
9 constipation 59 32 frequent (33%) Frequent (79-30%) HP:0002019
10 hypotension 59 32 frequent (33%) Frequent (79-30%) HP:0002615
11 scoliosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002650
12 kyphosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002808
13 hyperlordosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0003307
14 reduced consciousness/confusion 59 32 occasional (7.5%) Occasional (29-5%) HP:0004372
15 dehydration 59 32 occasional (7.5%) Occasional (29-5%) HP:0001944
16 myopathy 59 32 frequent (33%) Frequent (79-30%) HP:0003198
17 fatigue 59 32 frequent (33%) Frequent (79-30%) HP:0012378
18 arrhythmia 59 32 occasional (7.5%) Occasional (29-5%) HP:0011675
19 cleft palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0000175
20 pallor 59 32 occasional (7.5%) Occasional (29-5%) HP:0000980
21 abdominal pain 59 32 frequent (33%) Frequent (79-30%) HP:0002027
22 pruritus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000989
23 weight loss 59 32 occasional (7.5%) Occasional (29-5%) HP:0001824
24 thick lower lip vermilion 59 32 frequent (33%) Frequent (79-30%) HP:0000179
25 joint hyperflexibility 59 32 occasional (7.5%) Occasional (29-5%) HP:0005692
26 corneal dystrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0001131
27 dry skin 59 32 frequent (33%) Frequent (79-30%) HP:0000958
28 anxiety 59 32 frequent (33%) Frequent (79-30%) HP:0000739
29 pes cavus 59 32 occasional (7.5%) Occasional (29-5%) HP:0001761
30 abnormality of temperature regulation 59 32 occasional (7.5%) Occasional (29-5%) HP:0004370
31 multiple lipomas 59 32 occasional (7.5%) Occasional (29-5%) HP:0001012
32 anorexia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002039
33 paresthesia 59 32 occasional (7.5%) Occasional (29-5%) HP:0003401
34 intestinal obstruction 59 32 occasional (7.5%) Occasional (29-5%) HP:0005214
35 aganglionic megacolon 59 32 occasional (7.5%) Occasional (29-5%) HP:0002251
36 pheochromocytoma 59 32 frequent (33%) Frequent (79-30%) HP:0002666
37 arachnodactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001166
38 multiple cafe-au-lait spots 59 32 occasional (7.5%) Occasional (29-5%) HP:0007565
39 irregular hyperpigmentation 59 32 frequent (33%) Frequent (79-30%) HP:0007400
40 hypertensive crisis 59 32 frequent (33%) Frequent (79-30%) HP:0100735
41 nephrolithiasis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000787
42 hyperparathyroidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000843
43 benign neoplasm of the central nervous system 59 32 occasional (7.5%) Occasional (29-5%) HP:0100835
44 hypercalcemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0003072
45 diarrhea 59 32 hallmark (90%) Very frequent (99-80%) HP:0002014
46 skin rash 59 32 occasional (7.5%) Occasional (29-5%) HP:0000988
47 bone pain 59 32 occasional (7.5%) Occasional (29-5%) HP:0002653
48 intestinal polyposis 59 32 occasional (7.5%) Occasional (29-5%) HP:0200008
49 lymphadenopathy 59 32 frequent (33%) Frequent (79-30%) HP:0002716
50 tall stature 59 32 occasional (7.5%) Occasional (29-5%) HP:0000098

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

46 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.11 CDC73 MEN1 GDNF NF1 PTH RET
2 cellular MP:0005384 10.1 GFRA1 CDC73 MEN1 GDNF NF1 PTH
3 endocrine/exocrine gland MP:0005379 10.03 CDC73 MEN1 NF1 GDNF PTH RET
4 mortality/aging MP:0010768 9.97 CDC73 MEN1 GDNF NF1 PTH GFRA1
5 digestive/alimentary MP:0005381 9.95 CDC73 MEN1 GDNF NF1 GFRA1 RET
6 hematopoietic system MP:0005397 9.95 CDC73 GDNF NF1 SDHD PTH RET
7 embryo MP:0005380 9.93 GFRA1 CDC73 MEN1 NF1 RET SDHD
8 immune system MP:0005387 9.91 GFRA1 MEN1 CDC73 GDNF NF1 PTH
9 muscle MP:0005369 9.73 CDC73 MEN1 GDNF NF1 GFRA1 RET
10 neoplasm MP:0002006 9.63 CDC73 MEN1 NF1 RET SDHB SDHD
11 nervous system MP:0003631 9.56 CDC73 MEN1 GDNF NF1 GFRA1 RBP3
12 renal/urinary system MP:0005367 9.1 CDC73 GDNF NF1 GFRA1 RET SDHB

Drugs & Therapeutics for Multiple Endocrine Neoplasia, Type Iia

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

(show all 12)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Calcimimetic Agents Phase 3
2 Calcium, Dietary Phase 3
3 Cinacalcet Hydrochloride Phase 3
4 Hormone Antagonists Phase 3
5 Hormones Phase 3
6 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3
7 Dulaglutide Approved, Investigational 923950-08-7
8
Exenatide Approved, Investigational 141758-74-9 15991534
9
Liraglutide Approved 204656-20-2 44147092
10 glucagon
11 Glucagon-Like Peptide 1
12 rGLP-1 protein

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Cinacalcet to Treat Familial Primary Hyperparathyroidism Completed NCT00325104 Phase 3
2 Vandetanib to Treat Children and Adolescents With Medullary Thyroid Cancer Active, not recruiting NCT00514046 Phase 1, Phase 2 Vandetanib
3 Veliparib, Capecitabine, and Temozolomide in Patients With Advanced, Metastatic, and Recurrent Neuroendocrine Tumor Withdrawn NCT02831179 Phase 1 Capecitabine;Temozolomide;Veliparib
4 Study of Molecular Pathways in Medullary Thyroid Carcinoma and Correlation of Molecular Data With Clinical Behavior of the MTC in Individuals Patients Completed NCT01424878
5 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
6 Familial Investigations of Childhood Cancer Predisposition Recruiting NCT03050268
7 Natural History Study of Children and Adults With Medullary Thyroid Cancer Recruiting NCT01660984
8 An Active Surveillance Program for Cases of Medullary Thyroid Carcinoma (MTC) Enrolling by invitation NCT01511393

Search NIH Clinical Center for Multiple Endocrine Neoplasia, Type Iia

Cochrane evidence based reviews: multiple endocrine neoplasia type 2a

Genetic Tests for Multiple Endocrine Neoplasia, Type Iia

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

Anatomical Context for Multiple Endocrine Neoplasia, Type Iia

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

41
Thyroid, Tongue, Colon, Skin, Bone, Testes, Adrenal Gland

Publications for Multiple Endocrine Neoplasia, Type Iia

Articles related to Multiple Endocrine Neoplasia, Type Iia:

(show top 50) (show all 247)
# Title Authors Year
1
Preimplantation genetic diagnosis of multiple endocrine neoplasia type 2A using informative markers identified by targeted sequencing. ( 29378479 )
2018
2
The Clinical Spectrum of Multiple Endocrine Neoplasia Type 2A with Cutaneous Lichen Amyloidosis in Ethnic Han Chinese. ( 29420094 )
2018
3
Quality of life in multiple endocrine neoplasia type 2A compared with normative and disease populations. ( 29903510 )
2018
4
Clinical Features of a Family with Multiple Endocrine Neoplasia Type 2A Caused by the D631Y RET Mutation. ( 28747092 )
2017
5
A large Chinese pedigree of multiple endocrine neoplasia type 2A with a novel C634Y/D707E germline mutation in RET exon 11. ( 28943896 )
2017
6
Genetic diagnosis of a Chinese multiple endocrine neoplasia type 2A family through whole genome sequencing. ( 28569245 )
2017
7
Different RET gene mutation-induced multiple endocrine neoplasia type 2A in 3 Chinese families. ( 28099363 )
2017
8
A laparoscopic revelation: incidental nodule in a patient with bilateral phaeochromocytoma in multiple endocrine neoplasia Type 2A. ( 29242944 )
2017
9
A Nationwide Study of Multiple Endocrine Neoplasia Type 2A in Norway: Predictive and Prognostic Factors for the Clinical Course of Medullary Thyroid Carcinoma. ( 27400880 )
2016
10
A rare missense variant in RET exon 8 in a Portuguese family with atypical multiple endocrine neoplasia type 2A. ( 27838608 )
2016
11
Clinical significance of RET mutation screening in a pedigree of multiple endocrine neoplasia type 2A. ( 27277749 )
2016
12
Genetic analysis and clinical investigation of a pedigree with multiple endocrine neoplasia type 2A: A case report. ( 27698838 )
2016
13
Local recurrence of pheochromocytoma in multiple endocrine neoplasia type 2A: a diagnostic and therapeutic challenge. ( 27014456 )
2016
14
Presence of the RET Cys634Tyr mutation and Gly691Ser functional polymorphism in Iranian families with multiple endocrine neoplasia type 2A. ( 26732158 )
2016
15
[Hyperparathyroidism in multiple endocrine neoplasia type 2A syndrome. Surgical and genetic implications]. ( 26589732 )
2016
16
Recurrent hyperparathyroidism due to proliferation of autotransplanted parathyroid tissue in a multiple endocrine neoplasia type 2A patient. ( 27617256 )
2016
17
RET Cys634Arg mutation confers a more aggressive multiple endocrine neoplasia type 2A phenotype than Cys634Tyr mutation. ( 25515555 )
2015
18
Letter to the Editor: Comment on Therapeutic Effectiveness of Screening for Multiple Endocrine Neoplasia Type 2A by Machens A. and Dralle H. ( 26439160 )
2015
19
Therapeutic Effectiveness of Screening for Multiple Endocrine Neoplasia Type 2A. ( 25946031 )
2015
20
Vaginal delivery in a patient with pheochromocytoma, medullary thyroid cancer, and primary hyperparathyroidism (multiple endocrine neoplasia type 2A, Sipple's syndrome). ( 25191209 )
2014
21
Rare manifestation of multiple endocrine neoplasia type 2A & cutaneous lichen amyloidosis in a family with RET gene mutation. ( 25027091 )
2014
22
Multiple endocrine neoplasia type 2A in an Iranian family: clinical and genetic studies. ( 24784869 )
2014
23
Diagnosis and surgical treatment of multiple endocrine neoplasia type 2A. ( 24400812 )
2014
24
The association between Hirschsprung's disease and multiple endocrine neoplasia type 2a: a systematic review. ( 24972642 )
2014
25
Prophylactic thyroidectomy for asymptomatic 3-year-old boy with positive multiple endocrine neoplasia type 2A mutation (codon 634). ( 24684035 )
2014
26
Nonfunctional Metastatic Parathyroid Carcinoma in the Setting of Multiple Endocrine Neoplasia Type 2A Syndrome. ( 25374962 )
2014
27
[Multiple endocrine neoplasia type 2A caused by a p.C618R RET proto-oncogene mutation in a Chinese pedigree]. ( 24928018 )
2014
28
Integrated DNA-based/biochemical screening for early diagnosis of multiple endocrine neoplasia type 2A (MEN2A). ( 23554805 )
2013
29
Pheochromocytoma in an 8-year-old patient with multiple endocrine neoplasia type 2A: implications for screening. ( 23868299 )
2013
30
Genetic analysis of a Chinese Han family with multiple endocrine neoplasia type 2A. ( 23617071 )
2013
31
Multiple Endocrine Neoplasia Type 2A Due to an Exon 8 (G533C) Mutation in a Large North American Kindred. ( 23461807 )
2013
32
Genetic screening in families with multiple endocrine neoplasia type 2A for possible medullary thyroid cancer. ( 23595407 )
2013
33
Multiple Endocrine Neoplasia Type 2A: Case Report. ( 24331334 )
2013
34
RET codon 618 mutations in Saudi families with multiple endocrine neoplasia Type 2A and familial medullary thyroid carcinoma. ( 23563004 )
2013
35
Pheochromocytoma in multiple endocrine neoplasia type 2A: positive 123I MIBG with negative CT and equivocal 131I MIBG imaging. ( 22614196 )
2012
36
Multiple endocrine neoplasia type 2A. ( 22632891 )
2012
37
Non-invasive prenatal diagnosis of multiple endocrine neoplasia type 2A using COLD-PCR combined with HRM genotyping analysis from maternal serum. ( 23236420 )
2012
38
Sonographic Findings of Medullary Thyroid Carcinoma Leading to Diagnosis of Multiple Endocrine Neoplasia Type 2a during Pregnancy. ( 23705087 )
2011
39
Laparoscopic resection of periadrenal paraganglioma in a patient with multiple endocrine neoplasia type 2A. ( 21304370 )
2011
40
Unusual case of multiple endocrine neoplasia type 2A syndrome without medullary thyroid carcinoma. ( 21134882 )
2011
41
Primary hyperparathyroidism as the first clinical manifestation of multiple endocrine neoplasia type 2A in a 5-year-old child. ( 21449769 )
2011
42
Diagnosis of multiple endocrine neoplasia type 2A in patients with positive thyroid imaging by iodine-131 metaiodobenzylguanidine scintigraphy. ( 21825847 )
2011
43
Successful kidney transplantation in a patient with multiple endocrine neoplasia type 2A syndrome: case study. ( 21996250 )
2011
44
The RET p.G533C mutation confers predisposition to multiple endocrine neoplasia type 2A in a Brazilian kindred and is able to induce a malignant phenotype in vitro and in vivo. ( 21834681 )
2011
45
Hypertension and intrapericardial paraganglioma: an exceptional presentation of multiple endocrine neoplasia type IIA syndrome. ( 21986504 )
2011
46
Risk profiles and penetrance estimations in multiple endocrine neoplasia type 2A caused by germline RET mutations located in exon 10. ( 20979234 )
2011
47
Evolution of surgical treatment of primary hyperparathyroidism in patients with multiple endocrine neoplasia type 2A. ( 20570815 )
2011
48
Coincidence of multiple endocrine neoplasia type 2A with acromegaly. ( 20739875 )
2010
49
Gestational diabetes leading to diagnosis and management of multiple endocrine neoplasia type 2a. ( 20093878 )
2010
50
An interesting case of Multiple Endocrine Neoplasia Type 2A. ( 20931159 )
2010

Variations for Multiple Endocrine Neoplasia, Type Iia

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

75 (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

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

6
(show top 50) (show all 883)
# 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_020630.4(RET): c.1852T> G (p.Cys618Gly) single nucleotide variant Pathogenic rs76262710 GRCh38 Chromosome 10, 43113648: 43113648
3 RET NM_020975.4(RET): c.1900T> G (p.Cys634Gly) single nucleotide variant Pathogenic rs75076352 GRCh37 Chromosome 10, 43609948: 43609948
4 RET NM_020975.4(RET): c.1900T> G (p.Cys634Gly) single nucleotide variant Pathogenic rs75076352 GRCh38 Chromosome 10, 43114500: 43114500
5 RET NM_020975.4(RET): c.1901G> A (p.Cys634Tyr) single nucleotide variant Pathogenic rs75996173 GRCh37 Chromosome 10, 43609949: 43609949
6 RET NM_020975.4(RET): c.1901G> A (p.Cys634Tyr) single nucleotide variant Pathogenic rs75996173 GRCh38 Chromosome 10, 43114501: 43114501
7 RET NM_020630.4(RET): c.1901G> C (p.Cys634Ser) single nucleotide variant Pathogenic rs75996173 GRCh37 Chromosome 10, 43609949: 43609949
8 RET NM_020630.4(RET): c.1901G> C (p.Cys634Ser) single nucleotide variant Pathogenic rs75996173 GRCh38 Chromosome 10, 43114501: 43114501
9 RET NM_020630.4(RET): c.1901G> T (p.Cys634Phe) single nucleotide variant Pathogenic rs75996173 GRCh37 Chromosome 10, 43609949: 43609949
10 RET NM_020630.4(RET): c.1901G> T (p.Cys634Phe) single nucleotide variant Pathogenic rs75996173 GRCh38 Chromosome 10, 43114501: 43114501
11 RET NM_020630.4(RET): c.1833C> G (p.Cys611Trp) single nucleotide variant Pathogenic rs80069458 GRCh37 Chromosome 10, 43609077: 43609077
12 RET NM_020630.4(RET): c.1833C> G (p.Cys611Trp) single nucleotide variant Pathogenic rs80069458 GRCh38 Chromosome 10, 43113629: 43113629
13 RET NM_020975.4(RET): c.1853G> C (p.Cys618Ser) single nucleotide variant Pathogenic rs79781594 GRCh37 Chromosome 10, 43609097: 43609097
14 RET NM_020975.4(RET): c.1853G> C (p.Cys618Ser) single nucleotide variant Pathogenic rs79781594 GRCh38 Chromosome 10, 43113649: 43113649
15 RET NM_020630.4(RET): c.1858T> C (p.Cys620Arg) single nucleotide variant Pathogenic rs77316810 GRCh37 Chromosome 10, 43609102: 43609102
16 RET NM_020630.4(RET): c.1858T> C (p.Cys620Arg) single nucleotide variant Pathogenic rs77316810 GRCh38 Chromosome 10, 43113654: 43113654
17 RET NM_020630.4(RET): c.1859G> A (p.Cys620Tyr) single nucleotide variant Pathogenic rs77503355 GRCh37 Chromosome 10, 43609103: 43609103
18 RET NM_020630.4(RET): c.1859G> A (p.Cys620Tyr) single nucleotide variant Pathogenic rs77503355 GRCh38 Chromosome 10, 43113655: 43113655
19 RET NM_020975.4(RET): c.1900T> C (p.Cys634Arg) single nucleotide variant Pathogenic rs75076352 GRCh37 Chromosome 10, 43609948: 43609948
20 RET NM_020975.4(RET): c.1900T> C (p.Cys634Arg) single nucleotide variant Pathogenic rs75076352 GRCh38 Chromosome 10, 43114500: 43114500
21 RET NM_020630.4(RET): c.1902C> G (p.Cys634Trp) single nucleotide variant Pathogenic rs77709286 GRCh37 Chromosome 10, 43609950: 43609950
22 RET NM_020630.4(RET): c.1902C> G (p.Cys634Trp) single nucleotide variant Pathogenic rs77709286 GRCh38 Chromosome 10, 43114502: 43114502
23 RET NM_020975.4(RET): c.2753T> C (p.Met918Thr) single nucleotide variant Pathogenic rs74799832 GRCh37 Chromosome 10, 43617416: 43617416
24 RET NM_020975.4(RET): c.2753T> C (p.Met918Thr) single nucleotide variant Pathogenic rs74799832 GRCh38 Chromosome 10, 43121968: 43121968
25 RET NM_020630.4(RET): c.1859G> T (p.Cys620Phe) single nucleotide variant Pathogenic rs77503355 GRCh37 Chromosome 10, 43609103: 43609103
26 RET NM_020630.4(RET): c.1859G> T (p.Cys620Phe) single nucleotide variant Pathogenic rs77503355 GRCh38 Chromosome 10, 43113655: 43113655
27 RET NM_020630.4(RET): c.1852T> C (p.Cys618Arg) single nucleotide variant Pathogenic rs76262710 GRCh37 Chromosome 10, 43609096: 43609096
28 RET NM_020630.4(RET): c.1852T> C (p.Cys618Arg) single nucleotide variant Pathogenic rs76262710 GRCh38 Chromosome 10, 43113648: 43113648
29 RET NM_020630.5(RET): c.1892_1903dup (p.Cys634_Arg635insHisGluLeuCys) duplication Pathogenic rs377767436 GRCh38 Chromosome 10, 43114492: 43114503
30 RET NM_020630.5(RET): c.1892_1903dup (p.Cys634_Arg635insHisGluLeuCys) duplication Pathogenic rs377767436 GRCh37 Chromosome 10, 43609940: 43609951
31 RET NM_020630.4(RET): c.2304G> C (p.Glu768Asp) single nucleotide variant Pathogenic/Likely pathogenic rs78014899 GRCh37 Chromosome 10, 43613840: 43613840
32 RET NM_020630.4(RET): c.2304G> C (p.Glu768Asp) single nucleotide variant Pathogenic/Likely pathogenic rs78014899 GRCh38 Chromosome 10, 43118392: 43118392
33 RET NM_020975.4(RET): c.1826G> A (p.Cys609Tyr) single nucleotide variant Pathogenic rs77939446 GRCh37 Chromosome 10, 43609070: 43609070
34 RET NM_020975.4(RET): c.1826G> A (p.Cys609Tyr) single nucleotide variant Pathogenic rs77939446 GRCh38 Chromosome 10, 43113622: 43113622
35 RET NM_020975.4(RET): c.2370G> C (p.Leu790Phe) single nucleotide variant Pathogenic rs75030001 GRCh37 Chromosome 10, 43613906: 43613906
36 RET NM_020975.4(RET): c.2370G> C (p.Leu790Phe) single nucleotide variant Pathogenic rs75030001 GRCh38 Chromosome 10, 43118458: 43118458
37 RET NM_020975.4(RET): c.2944C> T (p.Arg982Cys) single nucleotide variant risk factor rs17158558 GRCh37 Chromosome 10, 43620335: 43620335
38 RET NM_020975.4(RET): c.2944C> T (p.Arg982Cys) single nucleotide variant risk factor rs17158558 GRCh38 Chromosome 10, 43124887: 43124887
39 RET NM_020975.4(RET): c.1941C> T (p.Ile647=) single nucleotide variant risk factor rs75225191 GRCh37 Chromosome 10, 43609989: 43609989
40 RET NM_020975.4(RET): c.1941C> T (p.Ile647=) single nucleotide variant risk factor rs75225191 GRCh38 Chromosome 10, 43114541: 43114541
41 RET NM_020975.4(RET): c.2410G> A (p.Val804Met) single nucleotide variant Pathogenic rs79658334 GRCh37 Chromosome 10, 43614996: 43614996
42 RET NM_020975.4(RET): c.2410G> A (p.Val804Met) single nucleotide variant Pathogenic rs79658334 GRCh38 Chromosome 10, 43119548: 43119548
43 RET NM_020630.4(RET): c.2410G> T (p.Val804Leu) single nucleotide variant Pathogenic rs79658334 GRCh37 Chromosome 10, 43614996: 43614996
44 RET NM_020630.4(RET): c.2410G> T (p.Val804Leu) single nucleotide variant Pathogenic rs79658334 GRCh38 Chromosome 10, 43119548: 43119548
45 RET NM_020630.4(RET): c.1597G> T (p.Gly533Cys) single nucleotide variant Pathogenic rs75873440 GRCh37 Chromosome 10, 43607621: 43607621
46 RET NM_020630.4(RET): c.1597G> T (p.Gly533Cys) single nucleotide variant Pathogenic rs75873440 GRCh38 Chromosome 10, 43112173: 43112173
47 RET NM_020975.4(RET): c.2671T> G (p.Ser891Ala) single nucleotide variant Pathogenic rs75234356 GRCh37 Chromosome 10, 43615592: 43615592
48 RET NM_020975.4(RET): c.2671T> G (p.Ser891Ala) single nucleotide variant Pathogenic rs75234356 GRCh38 Chromosome 10, 43120144: 43120144
49 RET NM_020630.4(RET): c.1825T> G (p.Cys609Gly) single nucleotide variant Pathogenic rs77558292 GRCh37 Chromosome 10, 43609069: 43609069
50 RET NM_020630.4(RET): c.1825T> G (p.Cys609Gly) single nucleotide variant Pathogenic rs77558292 GRCh38 Chromosome 10, 43113621: 43113621

Cosmic variations for Multiple Endocrine Neoplasia, Type Iia:

9
(show top 50) (show all 206)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM14320 VHL thyroid,NS,carcinoma,medullary carcinoma c.233A>T p.N78I 3:10142080-10142080 15
2 COSM10654 TP53 thyroid,NS,carcinoma,medullary carcinoma c.637C>T p.R213* 17:7674894-7674894 15
3 COSM6956576 SMARCA4 thyroid,NS,carcinoma,medullary carcinoma c.2120T>C p.I707T 19:11008020-11008020 15
4 COSM29805 RET thyroid,NS,carcinoma,medullary carcinoma c.1859G>C p.C620S 10:43113655-43113655 15
5 COSM965 RET thyroid,NS,carcinoma,medullary carcinoma c.2753T>C p.M918T 10:43121968-43121968 15
6 COSM29804 RET thyroid,NS,carcinoma,medullary carcinoma c.1858T>C p.C620R 10:43113654-43113654 15
7 COSM974 RET thyroid,NS,carcinoma,medullary carcinoma c.1901G>A p.C634Y 10:43114501-43114501 15
8 COSM20888 RET thyroid,NS,carcinoma,medullary carcinoma c.2732G>A p.G911D 10:43121947-43121947 15
9 COSM3437784 RET thyroid,NS,carcinoma,medullary carcinoma c.2206G>A p.G736R 10:43116653-43116653 15
10 COSM966 RET thyroid,NS,carcinoma,medullary carcinoma c.1900T>C p.C634R 10:43114500-43114500 15
11 COSM5945762 RET thyroid,NS,carcinoma,medullary carcinoma c.2249C>G p.A750G 10:43116696-43116696 15
12 COSM964 RET thyroid,NS,carcinoma,medullary carcinoma c.1888T>C p.C630R 10:43114488-43114488 15
13 COSM918118 RET thyroid,NS,carcinoma,medullary carcinoma c.2038G>A p.A680T 10:43114638-43114638 15
14 COSM29803 RET thyroid,NS,carcinoma,medullary carcinoma c.1852T>C p.C618R 10:43113648-43113648 15
15 COSM133167 RET thyroid,NS,carcinoma,medullary carcinoma c.2647G>T p.A883S 10:43120120-43120120 15
16 COSM959 RET thyroid,NS,carcinoma,medullary carcinoma c.2627C>T p.A876V 10:43120100-43120100 15
17 COSM29807 RET thyroid,NS,carcinoma,medullary carcinoma c.1902C>T p.C634C 10:43114502-43114502 15
18 COSM249789 RET thyroid,NS,carcinoma,medullary carcinoma c.2117T>C p.V706A 10:43114717-43114717 15
19 COSM249790 RET thyroid,NS,carcinoma,medullary carcinoma c.2680G>A p.G894S 10:43120153-43120153 15
20 COSM1237918 RET thyroid,NS,carcinoma,medullary carcinoma c.1900T>A p.C634S 10:43114500-43114500 15
21 COSM6005497 RET thyroid,NS,carcinoma,medullary carcinoma c.1924G>A p.V642I 10:43114524-43114524 15
22 COSM249792 RET thyroid,NS,carcinoma,medullary carcinoma c.2041C>T p.Q681* 10:43114641-43114641 15
23 COSM5945770 RET thyroid,NS,carcinoma,medullary carcinoma c.2733T>G p.G911G 10:43121948-43121948 15
24 COSM960 RET thyroid,NS,carcinoma,medullary carcinoma c.2650G>A p.E884K 10:43120123-43120123 15
25 COSM5945755 RET thyroid,NS,carcinoma,medullary carcinoma c.2771T>C p.F924S 10:43121986-43121986 15
26 COSM963 RET thyroid,NS,carcinoma,medullary carcinoma c.2701G>A p.E901K 10:43120174-43120174 15
27 COSM21338 RET thyroid,NS,carcinoma,medullary carcinoma c.2304G>C p.E768D 10:43118392-43118392 15
28 COSM5598719 RET thyroid,NS,carcinoma,medullary carcinoma c.2137G>A p.E713K 10:43116584-43116584 15
29 COSM5945761 RET thyroid,NS,carcinoma,medullary carcinoma c.2256C>T p.Y752Y 10:43116703-43116703 15
30 COSM975 RET thyroid,NS,carcinoma,medullary carcinoma c.1902C>G p.C634W 10:43114502-43114502 15
31 COSM5945760 RET thyroid,NS,carcinoma,medullary carcinoma c.2752A>C p.M918L 10:43121967-43121967 15
32 COSM961 RET thyroid,NS,carcinoma,medullary carcinoma c.2723G>A p.R908K 10:43120196-43120196 15
33 COSM978 RET thyroid,NS,carcinoma,medullary carcinoma c.1892A>G p.D631G 10:43114492-43114492 15
34 COSM4170226 RET thyroid,NS,carcinoma,medullary carcinoma c.1946C>T p.S649L 10:43114546-43114546 15
35 COSM971 RET thyroid,NS,carcinoma,medullary carcinoma c.2296C>T p.P766S 10:43118384-43118384 15
36 COSM29806 RET thyroid,NS,carcinoma,medullary carcinoma c.1888T>G p.C630G 10:43114488-43114488 15
37 COSM20889 RET thyroid,NS,carcinoma,medullary carcinoma c.2761G>A p.E921K 10:43121976-43121976 15
38 COSM6005498 RET thyroid,NS,carcinoma,medullary carcinoma c.1886T>A p.L629Q 10:43114486-43114486 15
39 COSM970 RET thyroid,NS,carcinoma,medullary carcinoma c.2756C>T p.A919V 10:43121971-43121971 15
40 COSM5945757 RET thyroid,NS,carcinoma,medullary carcinoma c.2180G>A p.G727E 10:43116627-43116627 15
41 COSM5945758 RET thyroid,NS,carcinoma,medullary carcinoma c.1804A>G p.I602V 10:43113600-43113600 15
42 COSM5945763 RET thyroid,NS,carcinoma,medullary carcinoma c.1983C>T p.H661H 10:43114583-43114583 15
43 COSM958 RET thyroid,NS,carcinoma,medullary carcinoma c.2242G>T p.G748C 10:43116689-43116689 15
44 COSM5946160 RET thyroid,NS,carcinoma,medullary carcinoma c.1858T>A p.C620S 10:43113654-43113654 15
45 COSM980 RET thyroid,NS,carcinoma,medullary carcinoma c.1853G>A p.C618Y 10:43113649-43113649 15
46 COSM249791 RET thyroid,NS,carcinoma,medullary carcinoma c.1843G>A p.E615K 10:43113639-43113639 15
47 COSM583 NRAS thyroid,NS,carcinoma,medullary carcinoma c.182A>T p.Q61L 1:114713908-114713908 15
48 COSM584 NRAS thyroid,NS,carcinoma,medullary carcinoma c.182A>G p.Q61R 1:114713908-114713908 15
49 COSM6968164 MGA thyroid,NS,carcinoma,medullary carcinoma c.1228G>T p.E410* 15:41696238-41696238 15
50 COSM1237679 MDC1 thyroid,NS,carcinoma,medullary carcinoma c.6266C>A p.T2089N 6:30700469-30700469 15

Expression for Multiple Endocrine Neoplasia, Type Iia

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

Pathways for Multiple Endocrine Neoplasia, Type Iia

GO Terms for Multiple Endocrine Neoplasia, Type Iia

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

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

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 regulation of gene expression GO:0010468 9.7 GDNF NF1 PTH
2 axon guidance GO:0007411 9.63 GDNF GFRA1 RET
3 beta-catenin-TCF complex assembly GO:1904837 9.56 CDC73 MEN1
4 ureteric bud development GO:0001657 9.55 GDNF RET
5 neural crest cell migration GO:0001755 9.54 GDNF RET
6 metanephros development GO:0001656 9.51 GDNF NF1
7 tricarboxylic acid cycle GO:0006099 9.49 SDHB SDHD
8 negative regulation of fibroblast proliferation GO:0048147 9.48 CDC73 NF1
9 peripheral nervous system development GO:0007422 9.43 GDNF NF1
10 negative regulation of osteoclast differentiation GO:0045671 9.4 CALCA NF1
11 response to pain GO:0048265 9.37 CALCA RET
12 sympathetic nervous system development GO:0048485 9.32 GDNF NF1
13 positive regulation of ossification GO:0045778 9.26 CALCA PTH
14 positive regulation of extrinsic apoptotic signaling pathway in absence of ligand GO:2001241 9.16 NF1 RET
15 MAPK cascade GO:0000165 9.02 GDNF GFRA1 MEN1 NF1 RET
16 enteric nervous system development GO:0048484 8.96 GDNF RET

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

# 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, Type Iia

3 CDC
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