MEN2A
MCID: MLT160
MIFTS: 68

Multiple Endocrine Neoplasia, Type Iia (MEN2A)

Categories: Cancer diseases, Endocrine diseases, Gastrointestinal diseases, Genetic diseases, Neuronal diseases, Rare diseases
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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 11 19 58 43 14 71
Multiple Endocrine Neoplasia Type 2 24 19 58 75 71
Sipple Syndrome 57 11 19 58 75
Men2a 57 11 58 73
Men2 24 19 58 73
Multiple Endocrine Neoplasia, Type 2 75 28 5
Ptc Syndrome 57 19 58
Multiple Endocrine Neoplasia, Type 2a 28 5
Multiple Endocrine Neoplasia Iia 57 12
Men 2a 19 53
Pheochromocytoma and Amyloid-Producing Medullary Thyroid Carcinoma 57
Pheochromocytoma and Amyloid Producing Medullary Thyroid Carcinoma 19
Multiple Endocrine Neoplasia Ii 11
Multiple Neoplasia Type 2 73
Multiple Neoplasia 2a 73
Men-2a Syndrome 19
Men2 Syndrome 24

Characteristics:


Inheritance:

Multiple Endocrine Neoplasia, Type Iia: Autosomal dominant 57
Multiple Endocrine Neoplasia Type 2: Autosomal dominant 58
Multiple Endocrine Neoplasia Type 2a: Autosomal dominant 58

Prevelance:

Multiple Endocrine Neoplasia Type 2: 1-9/100000 (Europe, Germany) 58

Age Of Onset:

Multiple Endocrine Neoplasia Type 2: Adolescent,Adult,Childhood,Infancy 58
Multiple Endocrine Neoplasia Type 2a: Childhood 58

GeneReviews:

24
Penetrance The penetrance for mtc, pheochromocytoma, and parathyroid disease varies by men2 phenotype (see table 2).

Classifications:

Orphanet: 58  
Rare gastroenterological diseases
Rare endocrine diseases


Summaries for Multiple Endocrine Neoplasia, Type Iia

GARD: 19 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. 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 thyroid carcinoma, familial medullary. An important gene associated with Multiple Endocrine Neoplasia, Type Iia is RET (Ret Proto-Oncogene), and among its related pathways/superpathways are Signal Transduction and Neuroscience. The drugs Sorafenib and Protein Kinase Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include thyroid, tongue and colon, and related phenotypes are medullary thyroid carcinoma and hyperhidrosis

Orphanet 58 Multiple endocrine neoplasia type 2a: A form of multiple endocrine neoplasia type 2 (MEN2) syndrome characterized by medullary thyroid carcinoma in association with pheochromocytoma (one or both adrenal glands can be affected) and/or primary hyperparathyroidism (caused by parathyroid adenoma). Onset is typically later than in MEN2B, before 35 years of age. Diarrhea is the most frequent systemic symptom. Patients can develop Hirschsprung disease and, less frequently, cutaneous lichen amyloidosis or excessive production of adrenocorticotropic hormone.

Multiple endocrine neoplasia type 2: A rare multiple endocrine neoplasia (MEN) syndrome that is principally characterized by the association of medullary thyroid carcinoma (MTC) with other endocrine tumors. The variant MEN 2A is defined by MTC associated with pheochromocytoma and/or primary hyperparathyroidism (MEN2A); the variant MEN 2B is defined as an aggressive form of MTC in association with pheochromocytoma but without primary hyperparathyroidism.

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) (Updated 08-Dec-2022)

Disease Ontology: 11 A multiple endocrine neoplasia characterized by medullary carcinoma of the thyroid, pheochromocytoma, hyperparathyroidism, and occasionally cutaneous lichen amyloidosis.

UniProtKB/Swiss-Prot: 73 The most frequent form of medullary thyroid cancer (MTC). It is an inherited cancer syndrome characterized by MTC, phaeochromocytoma and/or hyperparathyroidism.

Wikipedia: 75 Multiple endocrine neoplasia type 2 (also known as "Pheochromocytoma and amyloid producing medullary... 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 267)
# Related Disease Score Top Affiliating Genes
1 adrenal carcinoma 32.1 SDHD SDHB RET NF1 MEN1
2 thyroid carcinoma, familial medullary 31.1 VHL RET MEN1 GFRA1 GDNF CALCA
3 thyroid gland medullary carcinoma 31.1 RET PTH MEN1 GFRA1 GDNF CALCA
4 hyperparathyroidism 31.0 RET PTH MEN1 CDC73 CALCA
5 neuroma 31.0 RET NF1 GDNF CALCA
6 parathyroid gland disease 30.8 RET PTH MEN1 CDC73 CALCA
7 medullary sponge kidney 30.8 RET GDNF
8 primary hyperparathyroidism 30.7 RET PTH MEN1 CDC73 CALCA
9 adenoma 30.7 RET PTH MEN1 CDC73
10 carcinoid syndrome 30.7 SDHD CALCA
11 hyperparathyroidism 2 with jaw tumors 30.7 RET MEN1 CDC73
12 multinodular goiter 30.6 RET PTH CALCA
13 parathyroid adenoma 30.6 RET PTH MEN1 CDC73 CALCA
14 multiple endocrine neoplasia 30.5 VHL SDHD SDHC SDHB RET PTH
15 hypoparathyroidism 30.5 RET PTH CALCA
16 acoustic neuroma 30.5 SDHD NF1 GDNF
17 neurofibromatosis 30.5 VHL SDHD SDHC SDHB RET NF1
18 hirschsprung disease 1 30.5 SHC1 RET GFRA1 GDNF CALCA
19 hyperparathyroidism 1 30.5 MEN1 CDC73
20 megacolon 30.4 RET GFRA1 GDNF
21 nontoxic goiter 30.4 PTH CALCA
22 nodular goiter 30.3 RET PTH CALCA
23 familial hypocalciuric hypercalcemia 30.3 RET PTH MEN1 CDC73 CALCA
24 multiple endocrine neoplasia, type iv 30.2 RET MEN1 CDC73
25 neuroendocrine tumor 30.2 SDHD RET NF1 MEN1 CALCA
26 renal hypodysplasia/aplasia 1 30.1 RET GFRA1 GDNF
27 conn's syndrome 30.0 RET PTH MEN1 CALCA
28 multiple endocrine neoplasia, type iib 30.0 TMEM127 SDHD SDHB SDHAF2 RET NF1
29 hyperthyroidism 29.9 SDHA PTH CALCA
30 cowden syndrome 29.9 SDHD SDHC SDHB SDHA RET NF1
31 hashimoto thyroiditis 29.8 SDHA RET CALCA
32 neuroblastoma 29.7 SHC1 SDHB RET NF1 MAX GDNF
33 parathyroid carcinoma 29.6 RET PTH MIR139 MEN1 CDC73 CALCA
34 gastrointestinal stromal tumor 29.6 TMEM127 SDHD SDHC SDHB SDHAF2 SDHA
35 extra-adrenal pheochromocytoma 29.5 TMEM127 SDHD SDHC SDHB SDHAF2 SDHA
36 thyroid gland cancer 29.4 TMEM127 SDHD SDHB RET PTH NF1
37 neurofibromatosis, type i 29.4 VHL TMEM127 SDHD SDHC SDHB SDHA
38 pheochromocytoma 29.3 VHL TMEM127 SHC1 SDHD SDHC SDHB
39 multiple endocrine neoplasia, type i 29.1 VHL SDHD SDHC SDHB RET PTH
40 inherited cancer-predisposing syndrome 29.0 VHL TMEM127 SDHD SDHC SDHB SDHAF2
41 bap1 tumor predisposition syndrome 29.0 VHL TMEM127 SDHD SDHC SDHB SDHAF2
42 malignant pheochromocytoma 28.9 TMEM127 SDHD SDHC SDHB SDHAF2 SDHA
43 paraganglioma 28.8 VHL TMEM127 SDHD SDHC SDHB SDHAF2
44 von hippel-lindau syndrome 28.6 VHL TMEM127 SDHD SDHC SDHB SDHAF2
45 hereditary paraganglioma-pheochromocytoma syndromes 28.6 VHL TMEM127 SDHD SDHC SDHB SDHAF2
46 carney complex, type 1 10.9
47 oto-palatal-digital syndrome 10.9
48 thyroid carcinoma 10.7
49 atypical follicular adenoma 10.4 RET CALCA
50 nonsyndromic paraganglioma 10.4 SDHB RET

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

Human phenotypes related to Multiple Endocrine Neoplasia, Type Iia:

58 30 (show top 50) (show all 54)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 medullary thyroid carcinoma 58 30 Very rare (1%) Very frequent (99-80%)
HP:0002865
2 hyperhidrosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0000975
3 anxiety 58 30 Frequent (33%) Frequent (79-30%)
HP:0000739
4 pallor 58 30 Frequent (33%) Frequent (79-30%)
HP:0000980
5 hypertensive crisis 58 30 Frequent (33%) Frequent (79-30%)
HP:0100735
6 headache 58 30 Very rare (1%) Frequent (79-30%)
HP:0002315
7 pheochromocytoma 58 30 Very rare (1%) Frequent (79-30%)
HP:0002666
8 diarrhea 58 30 Frequent (33%) Frequent (79-30%)
HP:0002014
9 elevated calcitonin 58 30 Frequent (33%) Frequent (79-30%)
HP:0003528
10 palpitations 58 30 Very rare (1%) Frequent (79-30%)
HP:0001962
11 parathyroid hyperplasia 58 30 Frequent (33%) Frequent (79-30%)
HP:0008208
12 hypertension associated with pheochromocytoma 58 30 Frequent (33%) Frequent (79-30%)
HP:0002640
13 elevated urinary norepinephrine 58 30 Very rare (1%) Frequent (79-30%)
HP:0003345
14 elevated urinary epinephrine 58 30 Very rare (1%) Frequent (79-30%)
HP:0003639
15 thyroid nodule 58 30 Frequent (33%) Frequent (79-30%)
HP:0025388
16 thyroid c cell hyperplasia 58 30 Frequent (33%) Frequent (79-30%)
HP:0011781
17 elevated urinary vanillylmandelic acid 58 30 Very rare (1%) Frequent (79-30%)
HP:0011978
18 cervical neoplasm 58 30 Frequent (33%) Frequent (79-30%)
HP:0032241
19 constipation 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002019
20 muscle weakness 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001324
21 hyperlordosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003307
22 thick vermilion border 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0012471
23 nephrolithiasis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000787
24 kyphoscoliosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002751
25 disproportionate tall stature 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001519
26 aganglionic megacolon 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002251
27 hypercalciuria 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002150
28 hypercalcemia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003072
29 neoplasm of the lung 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0100526
30 neoplasm of the liver 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002896
31 abdominal distention 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003270
32 cervical lymphadenopathy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0025289
33 neoplasm of the skeletal system 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0010622
34 parathyroid adenoma 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002897
35 neck pain 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0030833
36 primary hyperparathyroidism 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0008200
37 elevated circulating parathyroid hormone level 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003165
38 abnormal tongue morphology 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0030809
39 paraganglioma of head and neck 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002864
40 prominent corneal nerve fibers 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0010726
41 ganglioneuromatosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0025151
42 multiple mucosal neuromas 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0031023
43 cutaneous lichen amyloidosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0032346
44 joint laxity 58 30 Very rare (1%) Very rare (<4-1%)
HP:0001388
45 proximal amyotrophy 58 30 Very rare (1%) Very rare (<4-1%)
HP:0007126
46 reduced subcutaneous adipose tissue 58 30 Very rare (1%) Very rare (<4-1%)
HP:0003758
47 hypertension 30 Very rare (1%) HP:0000822
48 chest pain 30 Very rare (1%) HP:0100749
49 elevated urinary dopamine 30 Very rare (1%) HP:0011979
50 hyperparathyroidism 30 HP:0000843

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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 (Updated 08-Dec-2022)

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 9.66 NF1 RET SDHD VHL
2 Decreased viability GR00221-A-2 9.66 MAX NF1 RET SDHD VHL
3 Decreased viability GR00221-A-3 9.66 MAX
4 Decreased viability GR00221-A-4 9.66 NF1 RET SDHD
5 Decreased viability GR00249-S 9.66 NF1 SDHD VHL
6 Decreased viability GR00301-A 9.66 RET VHL
7 Decreased viability GR00381-A-1 9.66 SDHD
8 Decreased viability GR00386-A-1 9.66 MAX NF1
9 Decreased viability GR00402-S-2 9.66 RET
10 Increased sensitivity to paclitaxel GR00112-A-0 8.65 VHL

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

45 (show all 16)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.37 CALCA CDC73 MAPK7 MEN1 MIR139 NF1
2 growth/size/body region MP:0005378 10.35 CDC73 GDNF MAPK7 MAX MEN1 MIR139
3 nervous system MP:0003631 10.31 CALCA CDC73 GDNF GFRA1 MAPK7 MEN1
4 neoplasm MP:0002006 10.3 CALCA CDC73 MEN1 MIR139 NF1 RET
5 normal MP:0002873 10.25 CALCA GFRA1 MAPK7 MEN1 NF1 RET
6 cellular MP:0005384 10.22 CDC73 GDNF GFRA1 MAPK7 MAX MEN1
7 muscle MP:0005369 10.21 CDC73 GDNF GFRA1 MAPK7 MEN1 NF1
8 embryo MP:0005380 10.21 CALCA CDC73 GFRA1 MAPK7 MAX MEN1
9 renal/urinary system MP:0005367 10.18 CALCA CDC73 GDNF GFRA1 MAPK7 NF1
10 endocrine/exocrine gland MP:0005379 10.16 CDC73 GDNF MEN1 NF1 PTH RET
11 digestive/alimentary MP:0005381 10.06 CDC73 GDNF GFRA1 MAPK7 MEN1 MIR139
12 cardiovascular system MP:0005385 10 CALCA CDC73 GDNF MAPK7 MEN1 NF1
13 behavior/neurological MP:0005386 10 CALCA CDC73 GDNF GFRA1 MAPK7 MEN1
14 craniofacial MP:0005382 9.91 CDC73 MAPK7 MEN1 NF1 PTH SDHA
15 immune system MP:0005387 9.73 CDC73 GDNF GFRA1 MEN1 MIR139 NF1
16 mortality/aging MP:0010768 9.58 CALCA CDC73 GDNF GFRA1 MAPK7 MAX

Drugs & Therapeutics for Multiple Endocrine Neoplasia, Type Iia

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sorafenib Approved, Investigational Phase 2 284461-73-0 216239
2 Protein Kinase Inhibitors Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Phase I/II Trial of Vandetanib (ZD6474, ZACTIMA) in Children and Adolescents With Hereditary Medullary Thyroid Carcinoma Completed NCT00514046 Phase 1, Phase 2 Vandetanib
2 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)
3 Phase II Study of Sorafenib (BAY 43-9006) in Patients With Metastatic Medullary Thyroid Carcinoma Active, not recruiting NCT00390325 Phase 2 Sorafenib Tosylate
4 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
5 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
6 Coordination of Rare Diseases at Sanford Recruiting NCT01793168
7 Familial Investigations of Childhood Cancer Predisposition Recruiting NCT03050268
8 Genetic Modifying Factors and Pheochromocytomas in Multiple Endocrine Neoplasia Type 2 Recruiting NCT05158712
9 Longitudinal Assessment and Natural History Study of Children and Adults With MEN2A or MEN2B With or Without Medullary Thyroid Carcinoma Recruiting NCT01660984
10 Registry for Multiple Endocrine Neoplasia Syndromes: MEN1/MEN2 Active, not recruiting NCT03048279

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 28 RET
2 Multiple Endocrine Neoplasia, Type 2a 28 RET

Anatomical Context for Multiple Endocrine Neoplasia, Type Iia

Organs/tissues related to Multiple Endocrine Neoplasia, Type Iia:

MalaCards : Thyroid, Tongue, Colon, Lung, Liver, Pituitary, Adrenal Gland
ODiseA: Pituitary

Publications for Multiple Endocrine Neoplasia, Type Iia

Articles related to Multiple Endocrine Neoplasia, Type Iia:

(show top 50) (show all 2286)
# Title Authors PMID Year
1
Guidelines for diagnosis and therapy of MEN type 1 and type 2. 62 24 57 5
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. 53 62 57 5
7914213 1994
3
Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A. 53 62 57 5
8099202 1993
4
A MEN2A family with two asymptomatic carriers affected by unilateral renal agenesis. 62 57 5
24152999 2014
5
Hirschsprung disease in MEN 2A: increased spectrum of RET exon 10 genotypes and strong genotype-phenotype correlation. 53 62 24 5
9384613 1998
6
Diverse phenotypes associated with exon 10 mutations of the RET proto-oncogene. 53 62 24 5
7881414 1994
7
The clinical spectrum of multiple endocrine neoplasia type 2a caused by the rare intracellular RET mutation S891A. 62 24 5
20554711 2010
8
One hundred and seven family members with the rearranged during transfection V804M proto-oncogene mutation presenting with simultaneous medullary and papillary thyroid carcinomas, rare primary hyperparathyroidism, and no pheochromocytomas: is this a new syndrome--MEN 2C? 62 24 5
19958926 2009
9
Head and neck paragangliomas in von Hippel-Lindau disease and multiple endocrine neoplasia type 2. 62 24 5
19336503 2009
10
RET genetic screening in patients with medullary thyroid cancer and their relatives: experience with 807 individuals at one center. 62 24 5
17895320 2007
11
RET is constitutively activated by novel tandem mutations that alter the active site resulting in multiple endocrine neoplasia type 2B. 62 24 5
17047083 2006
12
RET as a diagnostic and therapeutic target in sporadic and hereditary endocrine tumors. 62 24 5
16849421 2006
13
The familial medullary thyroid carcinoma-associated RET E768D mutation in a multiple endocrine neoplasia type 2A case. 62 24 5
15855933 2005
14
Germline RET V804M mutation associated with multiple endocrine neoplasia type 2A. 62 24 5
15386323 2004
15
Pheochromocytoma and medullary thyroid carcinoma: a new genotype-phenotype correlation of the RET protooncogene 891 germline mutation. 62 24 5
15292360 2004
16
Multiple endocrine neoplasia type 2: evaluation of the genotype-phenotype relationship. 62 24 5
12686527 2003
17
A novel Val648Ile substitution in RET protooncogene observed in a Cys634Arg multiple endocrine neoplasia type 2A kindred presenting with an adrenocorticotropin-producing pheochromocytoma. 62 24 5
12466368 2002
18
Germ-line mutations in nonsyndromic pheochromocytoma. 62 24 5
12000816 2002
19
Update on the MEN 2A c804 RET mutation: is prophylactic thyroidectomy indicated? 62 24 5
11114642 2000
20
Multiple endocrine neoplasia type 2 and RET: from neoplasia to neurogenesis. 62 24 5
11073534 2000
21
Variable expressivity of familial medullary thyroid carcinoma (FMTC) due to a RET V804M (GTG-->ATG) mutation. 62 24 5
10876191 2000
22
A RET double mutation in the germline of a kindred with FMTC. 62 24 5
10826520 2000
23
Co-segregation of MEN2 and Hirschsprung's disease: the same mutation of RET with both gain and loss-of-function? 62 24 5
10220148 1999
24
Association of multiple endocrine neoplasia type 2 and Hirschsprung disease. 62 24 5
9681852 1998
25
Molecular mechanisms of development of multiple endocrine neoplasia 2 by RET mutations. 62 24 5
9681851 1998
26
A new hot spot for mutations in the ret protooncogene causing familial medullary thyroid carcinoma and multiple endocrine neoplasia type 2A. 62 24 5
9506724 1998
27
A novel point mutation in the intracellular domain of the ret protooncogene in a family with medullary thyroid carcinoma. 62 24 5
9398735 1997
28
A Cys634Gly substitution of the RET proto-oncogene in a family with recurrence of multiple endocrine neoplasia type 2A and cutaneous lichen amyloidosis. 62 24 5
9111993 1997
29
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. 62 24 57
8981969 1997
30
The relationship between specific RET proto-oncogene mutations and disease phenotype in multiple endocrine neoplasia type 2. International RET mutation consortium analysis. 62 24 5
8918855 1996
31
Defects in the kidney and enteric nervous system of mice lacking the tyrosine kinase receptor Ret. 57 5
8114940 1994
32
Revised American Thyroid Association guidelines for the management of medullary thyroid carcinoma. 24 5
25810047 2015
33
Clinical predictors and algorithm for the genetic diagnosis of pheochromocytoma patients. 24 5
19825962 2009
34
Medullary thyroid cancer: management guidelines of the American Thyroid Association. 24 5
19469690 2009
35
A newly detected mutation of the RET protooncogene in exon 8 as a cause of multiple endocrine neoplasia type 2A. 53 62 5
17704047 2007
36
Emergence of medullary thyroid carcinoma in a family with the Cys630Arg RET germline mutation. 24 5
15523405 2004
37
Biological effects of the dual phenotypic Janus mutation of ret cosegregating with both multiple endocrine neoplasia type 2 and Hirschsprung's disease. 53 62 5
14715928 2004
38
Early malignant progression of hereditary medullary thyroid cancer. 24 5
14561794 2003
39
V804M RET mutation and familial medullary thyroid carcinoma: report of a large family with expression of the disease only in the homozygous gene carriers. 24 5
12019403 2002
40
RET mutation profile and variable clinical manifestations in a family with multiple endocrine neoplasia type 2A and Hirschsprung's disease. 53 62 5
11935126 2002
41
Molecular and biochemical screening for the diagnosis and management of medullary thyroid carcinoma in multiple endocrine neoplasia type 2A. 53 62 5
11987030 2002
42
Genotype-phenotype correlations in hereditary medullary thyroid carcinoma: oncological features and biochemical properties. 24 5
11238493 2001
43
Loss of heterozygosity at the RET protooncogene locus in a case of multiple endocrine neoplasia type 2A. 53 62 57
11232007 2001
44
A two-hit model for development of multiple endocrine neoplasia type 2B by RET mutations. 53 62 5
10679286 2000
45
A novel case of multiple endocrine neoplasia type 2A associated with two de novo mutations of the RET protooncogene. 53 62 5
10522989 1999
46
Adrenal and extra-adrenal pheochromocytomas in a family with germline RET V804L mutation. 24 5
10235148 1999
47
High prevalence of the C634Y mutation in the RET proto-oncogene in MEN 2A families in Spain. 53 62 5
9950371 1999
48
Oncological implications of RET gene mutations in Hirschsprung's disease. 53 62 5
9824583 1998
49
Analysis of RET proto-oncogene abnormalities in patients with MEN 2A, MEN 2B, familial or sporadic medullary thyroid carcinoma. 53 62 5
9699127 1998
50
Risk and penetrance of primary hyperparathyroidism in multiple endocrine neoplasia type 2A families with mutations at codon 634 of the RET proto-oncogene. Groupe D'etude des Tumeurs à Calcitonine. 53 62 5
9467562 1998

Variations for Multiple Endocrine Neoplasia, Type Iia

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

5 (show top 50) (show all 1941)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RET NM_020975.6(RET):c.1901G>C (p.Cys634Ser) SNV Pathogenic
Pathogenic
13910 rs75996173 GRCh37: 10:43609949-43609949
GRCh38: 10:43114501-43114501
2 RET NM_020975.6(RET):c.1919C>G (p.Ala640Gly) SNV Pathogenic
13942 rs78935588 GRCh37: 10:43609967-43609967
GRCh38: 10:43114519-43114519
3 RET NM_020975.6(RET):c.2689C>T (p.Arg897Ter) SNV Pathogenic
405536 rs1060500759 GRCh37: 10:43615610-43615610
GRCh38: 10:43120162-43120162
4 RET NM_020975.6(RET):c.1888T>C (p.Cys630Arg) SNV Pathogenic
Likely Pathogenic
24908 rs377767404 GRCh37: 10:43609936-43609936
GRCh38: 10:43114488-43114488
5 RET NM_020975.6(RET):c.268G>T (p.Glu90Ter) SNV Pathogenic
642786 rs1588862638 GRCh37: 10:43596101-43596101
GRCh38: 10:43100653-43100653
6 RET NM_020975.6(RET):c.1783G>T (p.Glu595Ter) SNV Pathogenic
657955 rs1483605155 GRCh37: 10:43609027-43609027
GRCh38: 10:43113579-43113579
7 RET NM_020975.6(RET):c.229C>T (p.Arg77Cys) SNV Pathogenic
1069381 GRCh37: 10:43596062-43596062
GRCh38: 10:43100614-43100614
8 RET NM_020975.6(RET):c.318G>A (p.Trp106Ter) SNV Pathogenic
1069637 GRCh37: 10:43596151-43596151
GRCh38: 10:43100703-43100703
9 RET NM_020975.6(RET):c.538C>T (p.Arg180Ter) SNV Pathogenic
13925 rs76449634 GRCh37: 10:43597990-43597990
GRCh38: 10:43102542-43102542
10 RET NM_020975.6(RET):c.936_939del (p.Arg312fs) DEL Pathogenic
963299 rs1837778621 GRCh37: 10:43601891-43601894
GRCh38: 10:43106443-43106446
11 RET NM_020975.6(RET):c.1151del (p.Pro384fs) DEL Pathogenic
969297 rs1837854100 GRCh37: 10:43604564-43604564
GRCh38: 10:43109116-43109116
12 RET NM_020975.6(RET):c.1252C>T (p.Arg418Ter) SNV Pathogenic
1403312 GRCh37: 10:43604667-43604667
GRCh38: 10:43109219-43109219
13 RET NM_020975.6(RET):c.1315C>T (p.Gln439Ter) SNV Pathogenic
1452055 GRCh37: 10:43606706-43606706
GRCh38: 10:43111258-43111258
14 RET NM_020975.6(RET):c.1902_1903inv (p.Cys634_Arg635delinsTrpGly) INVERS Pathogenic
1458805 GRCh37: 10:43609950-43609951
GRCh38: 10:43114502-43114503
15 RET NM_020975.6(RET):c.317G>A (p.Trp106Ter) SNV Pathogenic
1405715 GRCh37: 10:43596150-43596150
GRCh38: 10:43100702-43100702
16 RET NM_020975.6(RET):c.1852T>G (p.Cys618Gly) SNV Pathogenic
Pathogenic
Pathogenic
13905 rs76262710 GRCh37: 10:43609096-43609096
GRCh38: 10:43113648-43113648
17 RET NM_020975.6(RET):c.1896G>C (p.Glu632Asp) SNV Pathogenic
13906 rs387906531 GRCh37: 10:43609944-43609944
GRCh38: 10:43114496-43114496
18 RET NM_020975.6(RET):c.1900T>G (p.Cys634Gly) SNV Pathogenic
Pathogenic
13908 rs75076352 GRCh37: 10:43609948-43609948
GRCh38: 10:43114500-43114500
19 RET NM_020975.6(RET):c.1901G>A (p.Cys634Tyr) SNV Pathogenic
Pathogenic
13909 rs75996173 GRCh37: 10:43609949-43609949
GRCh38: 10:43114501-43114501
20 RET NM_020975.6(RET):c.1901G>T (p.Cys634Phe) SNV Pathogenic
Pathogenic
13911 rs75996173 GRCh37: 10:43609949-43609949
GRCh38: 10:43114501-43114501
21 RET NM_020975.6(RET):c.1833C>G (p.Cys611Trp) SNV Pathogenic
13913 rs80069458 GRCh37: 10:43609077-43609077
GRCh38: 10:43113629-43113629
22 RET NM_020975.6(RET):c.1853G>C (p.Cys618Ser) SNV Pathogenic
Pathogenic
13914 rs79781594 GRCh37: 10:43609097-43609097
GRCh38: 10:43113649-43113649
23 RET NM_020975.6(RET):c.1858T>C (p.Cys620Arg) SNV Pathogenic
Pathogenic
Pathogenic
13915 rs77316810 GRCh37: 10:43609102-43609102
GRCh38: 10:43113654-43113654
24 RET NM_020975.6(RET):c.2427C>A (p.Tyr809Ter) SNV Pathogenic
1406541 GRCh37: 10:43615013-43615013
GRCh38: 10:43119565-43119565
25 RET NM_020975.6(RET):c.1900T>C (p.Cys634Arg) SNV Pathogenic
Pathogenic
13917 rs75076352 GRCh37: 10:43609948-43609948
GRCh38: 10:43114500-43114500
26 RET NM_020975.6(RET):c.1859G>T (p.Cys620Phe) SNV Pathogenic
Pathogenic
13928 rs77503355 GRCh37: 10:43609103-43609103
GRCh38: 10:43113655-43113655
27 RET NM_020975.6(RET):c.2671T>G (p.Ser891Ala) SNV Pathogenic
Pathogenic
13951 rs75234356 GRCh37: 10:43615592-43615592
GRCh38: 10:43120144-43120144
28 RET NM_020975.6(RET):c.1832G>A (p.Cys611Tyr) SNV Pathogenic
24898 rs377767397 GRCh37: 10:43609076-43609076
GRCh38: 10:43113628-43113628
29 RET NM_020975.6(RET):c.1832G>T (p.Cys611Phe) SNV Pathogenic
24899 rs377767397 GRCh37: 10:43609076-43609076
GRCh38: 10:43113628-43113628
30 RET NM_020975.6(RET):c.1860C>G (p.Cys620Trp) SNV Pathogenic
13934 rs79890926 GRCh37: 10:43609104-43609104
GRCh38: 10:43113656-43113656
31 RET NM_020975.6(RET):c.1852T>C (p.Cys618Arg) SNV Pathogenic
Pathogenic/Likely Pathogenic
13929 rs76262710 GRCh37: 10:43609096-43609096
GRCh38: 10:43113648-43113648
32 RET NM_020975.6(RET):c.1858T>A (p.Cys620Ser) SNV Pathogenic
38602 rs77316810 GRCh37: 10:43609102-43609102
GRCh38: 10:43113654-43113654
33 RET NM_020975.6(RET):c.1859G>A (p.Cys620Tyr) SNV Pathogenic
Pathogenic/Likely Pathogenic
13916 rs77503355 GRCh37: 10:43609103-43609103
GRCh38: 10:43113655-43113655
34 RET NM_020975.6(RET):c.1859G>C (p.Cys620Ser) SNV Pathogenic
13943 rs77503355 GRCh37: 10:43609103-43609103
GRCh38: 10:43113655-43113655
35 RET NM_020975.6(RET):c.1889G>A (p.Cys630Tyr) SNV Pathogenic
24909 rs377767405 GRCh37: 10:43609937-43609937
GRCh38: 10:43114489-43114489
36 RET NM_020975.6(RET):c.1900T>A (p.Cys634Ser) SNV Pathogenic
38605 rs75076352 GRCh37: 10:43609948-43609948
GRCh38: 10:43114500-43114500
37 RET NM_020975.6(RET):c.1996A>G (p.Lys666Glu) SNV Pathogenic
24931 rs143795581 GRCh37: 10:43610044-43610044
GRCh38: 10:43114596-43114596
38 RET NM_020975.6(RET):c.2370G>C (p.Leu790Phe) SNV Pathogenic
Likely Pathogenic
13935 rs75030001 GRCh37: 10:43613906-43613906
GRCh38: 10:43118458-43118458
39 RET NM_020975.6(RET):c.2410G>C (p.Val804Leu) SNV Pathogenic
Likely Pathogenic
38613 rs79658334 GRCh37: 10:43614996-43614996
GRCh38: 10:43119548-43119548
40 RET NM_020975.6(RET):c.2410G>T (p.Val804Leu) SNV Pathogenic
Pathogenic
13946 rs79658334 GRCh37: 10:43614996-43614996
GRCh38: 10:43119548-43119548
41 RET NM_020975.6(RET):c.1852T>A (p.Cys618Ser) SNV Pathogenic
38601 rs76262710 GRCh37: 10:43609096-43609096
GRCh38: 10:43113648-43113648
42 RET NM_020975.6(RET):c.2410G>A (p.Val804Met) SNV Pathogenic
Pathogenic
Pathogenic
37102 rs79658334 GRCh37: 10:43614996-43614996
GRCh38: 10:43119548-43119548
43 RET NM_020975.6(RET):c.2753T>C (p.Met918Thr) SNV Pathogenic
Pathogenic
13919 rs74799832 GRCh37: 10:43617416-43617416
GRCh38: 10:43121968-43121968
44 RET NM_020975.6(RET):c.1826G>A (p.Cys609Tyr) SNV Pathogenic
Pathogenic
Not Provided
13933 rs77939446 GRCh37: 10:43609070-43609070
GRCh38: 10:43113622-43113622
45 RET NM_020975.6(RET):c.1902C>G (p.Cys634Trp) SNV Pathogenic
Pathogenic/Likely Pathogenic
13918 rs77709286 GRCh37: 10:43609950-43609950
GRCh38: 10:43114502-43114502
46 RET NM_020975.6(RET):c.1998G>T (p.Lys666Asn) SNV Pathogenic
Pathogenic/Likely Pathogenic
Not Provided
Not Provided
24932 rs146646971 GRCh37: 10:43610046-43610046
GRCh38: 10:43114598-43114598
47 RET NM_020975.6(RET):c.1597G>T (p.Gly533Cys) SNV Pathogenic
13950 rs75873440 GRCh37: 10:43607621-43607621
GRCh38: 10:43112173-43112173
48 RET NM_020975.6(RET):c.1853G>A (p.Cys618Tyr) SNV Pathogenic
Likely Pathogenic
24901 rs79781594 GRCh37: 10:43609097-43609097
GRCh38: 10:43113649-43113649
49 RET NM_020975.6(RET):c.1826G>T (p.Cys609Phe) SNV Pathogenic
38284 rs77939446 GRCh37: 10:43609070-43609070
GRCh38: 10:43113622-43113622
50 RET NM_020975.6(RET):c.2370G>T (p.Leu790Phe) SNV Pathogenic
Conflicting Interpretations Of Pathogenicity
38612 rs75030001 GRCh37: 10:43613906-43613906
GRCh38: 10:43118458-43118458

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:

8 (show top 50) (show all 113)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM88301868 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.389T>G p.V130G 3:10146562-10146562 9
2 COSM90654925 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.260T>C p.V87A 3:10142107-10142107 9
3 COSM88294143 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.260T>C p.V87A 3:10142107-10142107 9
4 COSM90652830 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.373G>T p.V125F 3:10149819-10149819 9
5 COSM90658470 VHL adrenal gland,NS,pheochromocytoma,benign c.244C>G p.R82G 3:10142091-10142091 9
6 COSM88293303 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.475A>G p.K159E 3:10149798-10149798 9
7 COSM88288959 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.482G>A p.R161Q 3:10149805-10149805 9
8 COSM88296074 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.250G>C p.V84L 3:10142097-10142097 9
9 COSM88291454 VHL adrenal gland,NS,pheochromocytoma,benign c.245G>T p.R82L 3:10142092-10142092 9
10 COSM88292246 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.227T>A p.F76Y 3:10142074-10142074 9
11 COSM88297427 VHL adrenal gland,NS,pheochromocytoma,benign c.244C>G p.R82G 3:10142091-10142091 9
12 COSM90652721 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.368A>G p.Q123R 3:10149814-10149814 9
13 COSM88292324 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.496G>T p.V166F 3:10149819-10149819 9
14 COSM90657160 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.250G>C p.V84L 3:10142097-10142097 9
15 COSM88305342 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.492G>T p.Q164H 3:10149815-10149815 9
16 COSM90653943 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.352A>G p.K118E 3:10149798-10149798 9
17 COSM90668341 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.369G>T p.Q123H 3:10149815-10149815 9
18 COSM88292236 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.491A>G p.Q164R 3:10149814-10149814 9
19 COSM88289571 VHL adrenal gland,NS,pheochromocytoma,benign c.341-1G>T p.? 3:10146513-10146513 9
20 COSM90651871 VHL adrenal gland,NS,pheochromocytoma,benign c.245G>T p.R82L 3:10142092-10142092 9
21 COSM88294223 VHL adrenal gland,NS,pheochromocytoma,benign c.499C>T p.R167W 3:10149822-10149822 9
22 COSM90649980 VHL adrenal gland,NS,pheochromocytoma,benign c.341-3274G>T p.? 3:10146513-10146513 9
23 COSM90655004 VHL adrenal gland,NS,pheochromocytoma,benign c.376C>T p.R126W 3:10149822-10149822 9
24 COSM90652730 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.227T>A p.F76Y 3:10142074-10142074 9
25 COSM90648957 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.359G>A p.R120Q 3:10149805-10149805 9
26 COSM90664073 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.341-3225T>G p.? 3:10146562-10146562 9
27 COSM90811579 RET adrenal gland,adrenal gland,pheochromocytoma,benign c.2753T>C p.M918T 10:43121968-43121968 9
28 COSM92347003 RET adrenal gland,adrenal gland,pheochromocytoma,benign c.2753T>C p.M918T 10:43121968-43121968 9
29 COSM142343426 RET adrenal gland,adrenal gland,pheochromocytoma,benign c.1289+3268T>C p.? 10:43114500-43114500 9
30 COSM142343204 RET adrenal gland,adrenal gland,pheochromocytoma,benign c.*102T>C p.? 10:43121968-43121968 9
31 COSM92347226 RET adrenal gland,adrenal gland,pheochromocytoma,benign c.1900T>C p.C634R 10:43114500-43114500 9
32 COSM90811811 RET adrenal gland,adrenal gland,pheochromocytoma,benign c.1900T>C p.C634R 10:43114500-43114500 9
33 COSM93530486 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.226G>T p.E76* 17:31159031-31159031 9
34 COSM93656552 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1885G>A p.G629R 17:31225134-31225134 9
35 COSM93692982 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.5665G>T p.E1889* 17:31330351-31330351 9
36 COSM93650970 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1466A>G p.Y489C 17:31214524-31214524 9
37 COSM120509060 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1466A>G p.Y489C 17:31214524-31214524 9
38 COSM93535461 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.3158C>A p.S1053* 17:31230886-31230886 9
39 COSM109968573 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.226G>T p.E76* 17:31159031-31159031 9
40 COSM109960979 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1466A>G p.Y489C 17:31214524-31214524 9
41 COSM93512112 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1885G>A p.G629R 17:31225134-31225134 9
42 COSM93508888 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.205-1G>C p.? 17:31159009-31159009 9
43 COSM93650443 NF1 adrenal gland,NS,pheochromocytoma,benign c.1307C>A p.S436* 17:31206286-31206286 9
44 COSM93509879 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.2409+1G>A p.? 17:31227607-31227607 9
45 COSM120509488 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.205-1G>C p.? 17:31159009-31159009 9
46 COSM93507010 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.7237C>T p.Q2413* 17:31349230-31349230 9
47 COSM93662933 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.7582C>T p.Q2528* 17:31352381-31352381 9
48 COSM93654948 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.7646C>G p.S2549* 17:31356490-31356490 9
49 COSM93504734 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1721+3A>T p.? 17:31221932-31221932 9
50 COSM93507162 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1466A>G p.Y489C 17:31214524-31214524 9

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

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

(show all 12)
# Super pathways Score Top Affiliating Genes
1 13.41 VHL SHC1 RET PTH NF1 MEN1
2 12.34 RET NF1 MAPK7 CALCA
3
Show member pathways
12.13 SDHD SDHC SDHB SDHA
4
Show member pathways
12.01 SHC1 RET GFRA1 GDNF
5 11.83 SHC1 RET MAPK7 GFRA1
6
Show member pathways
11.71 SDHD SDHC SDHB SDHA
7
Show member pathways
11.57 SDHA SDHB SDHC SDHD
8 11.31 RET GFRA1 GDNF
9 11.26 RET GFRA1 GDNF
10
Show member pathways
11.24 SHC1 RET MAPK7 GFRA1 GDNF
11 11.02 SHC1 RET GFRA1 GDNF
12
Show member pathways
10.1 SDHD SDHC SDHB SDHAF2 SDHA

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 9.23 SDHD SDHC SDHB SDHA

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

# Name GO ID Score Top Affiliating Genes
1 MAPK cascade GO:0000165 9.92 RET NF1 MEN1 MAPK7
2 proton motive force-driven mitochondrial ATP synthesis GO:0042776 9.76 SDHA SDHB SDHC SDHD
3 positive regulation of extrinsic apoptotic signaling pathway in absence of ligand GO:2001241 9.73 RET NF1
4 glial cell-derived neurotrophic factor receptor signaling pathway GO:0035860 9.67 RET GFRA1
5 tricarboxylic acid cycle GO:0006099 9.65 SDHD SDHC SDHB SDHAF2 SDHA
6 electron transport chain GO:0022900 9.58 SDHC SDHB SDHA
7 succinate metabolic process GO:0006105 9.56 SDHB SDHA
8 mitochondrial electron transport, succinate to ubiquinone GO:0006121 9.32 SDHD SDHC SDHB 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 9.56 SDHD SDHB
2 electron transfer activity GO:0009055 9.56 SDHD SDHC SDHB SDHA
3 succinate dehydrogenase activity GO:0000104 9.46 SDHC SDHA
4 succinate dehydrogenase (ubiquinone) activity GO:0008177 9.1 SDHD SDHB SDHA

Sources for Multiple Endocrine Neoplasia, Type Iia

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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