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MEA
MCID: MLT074
MIFTS: 57

Multiple Endocrine Neoplasia (MEA)

Categories: Cancer diseases, Endocrine diseases, Gastrointestinal diseases, Genetic diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Multiple Endocrine Neoplasia

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MalaCards integrated aliases for Multiple Endocrine Neoplasia:

Name: Multiple Endocrine Neoplasia 11 42 58 28 53 5 43 14 71 75
Men 42 58 75
Multiple Endocrine Adenomatosis 11 42
Multiple Endocrine Neoplasia Syndrome 11
Multiple Endocrine Neoplasia Type 1 71
Adenomatosis, Familial Endocrine 42
Familial Endocrine Adenomatosis 42
Endocrine Neoplasia, Multiple 42
Multiple Endocrine Neoplasms 42
Mea 42

Characteristics:


Inheritance:

Autosomal dominant 58

Prevelance:

<1/1000000 (Ireland) 58

Age Of Onset:

All ages 58

Classifications:

MalaCards categories:
Global: Rare diseases Cancer diseases Genetic diseases
Anatomical: Endocrine diseases Gastrointestinal diseases Neuronal diseases
See all MalaCards categories (disease lists)
ICD10: 32
Orphanet: 58  
Rare endocrine diseases


External Ids:

Disease Ontology 11 DOID:3125
MeSH 43 D009377
ICD10 via Orphanet 32 D44.8
UMLS via Orphanet 72 C0027662
Orphanet 58 ORPHA276161
UMLS 71 C0025267 C0027662
Sources

Summaries for Multiple Endocrine Neoplasia

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MedlinePlus Genetics: 42 Multiple endocrine neoplasia is a group of disorders that affect the body's network of hormone-producing glands called the endocrine system. Hormones are chemical messengers that travel through the bloodstream and regulate the function of cells and tissues throughout the body. Multiple endocrine neoplasia typically involves tumors (neoplasia) in at least two endocrine glands; tumors can also develop in other organs and tissues. These growths can be noncancerous (benign) or cancerous (malignant). If the tumors become cancerous, the condition can be life-threatening.The major forms of multiple endocrine neoplasia are called type 1, type 2, and type 4. These types are distinguished by the genes involved, the types of hormones made, and the characteristic signs and symptoms.Many different types of tumors are associated with multiple endocrine neoplasia. Type 1 frequently involves tumors of the parathyroid glands, the pituitary gland, and the pancreas. Tumors in these glands can lead to the overproduction of hormones. The most common sign of multiple endocrine neoplasia type 1 is overactivity of the parathyroid glands (hyperparathyroidism). Hyperparathyroidism disrupts the normal balance of calcium in the blood, which can lead to kidney stones, thinning of bones, nausea and vomiting, high blood pressure (hypertension), weakness, and fatigue.The most common sign of multiple endocrine neoplasia type 2 is a form of thyroid cancer called medullary thyroid carcinoma. Some people with this disorder also develop a pheochromocytoma, which is an adrenal gland tumor that can cause dangerously high blood pressure. Multiple endocrine neoplasia type 2 is divided into three subtypes: type 2A, type 2B (formerly called type 3), and familial medullary thyroid carcinoma (FMTC). These subtypes differ in their characteristic signs and symptoms and risk of specific tumors; for example, hyperparathyroidism occurs only in type 2A, and medullary thyroid carcinoma is the only feature of FMTC. The signs and symptoms of multiple endocrine neoplasia type 2 are relatively consistent within any one family.Multiple endocrine neoplasia type 4 appears to have signs and symptoms similar to those of type 1, although it is caused by mutations in a different gene. Hyperparathyroidism is the most common feature, followed by tumors of the pituitary gland, additional endocrine glands, and other organs.

MalaCards based summary: Multiple Endocrine Neoplasia, also known as men, is related to multiple endocrine neoplasia, type iv and multiple endocrine neoplasia, type iib, and has symptoms including diarrhea An important gene associated with Multiple Endocrine Neoplasia is RET (Ret Proto-Oncogene), and among its related pathways/superpathways are Signal Transduction and Neuroscience. The drugs Dexlansoprazole and Lansoprazole have been mentioned in the context of this disorder. Affiliated tissues include thyroid, adrenal gland and pituitary, and related phenotypes are Decreased viability and Increased cell number in S and G2M

Orphanet: 58 Multiple endocrine neoplasia (MEN) is a group of rare inherited cancer syndromes characterized by the development of two or more endocrine gland tumors, sometimes with tumor development in other tissues or organs.

Disease Ontology: 11 A syndrome that is characterized by tumors in at least two endocrine glands.

Wikipedia: 75 Multiple endocrine neoplasia (abbreviated MEN) is a condition which encompasses several distinct... more...
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Related Diseases for Multiple Endocrine Neoplasia

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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 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 650)
# Related Disease Score Top Affiliating Genes
1 multiple endocrine neoplasia, type iv 33.3 RET PRKAR1A MEN1 CDKN1B CDC73
2 multiple endocrine neoplasia, type iib 33.3 SDHB RET NF1 MEN1 GDNF CDKN1B
3 multiple endocrine neoplasia, type iia 32.7 VHL SDHC SDHB RET PNMT NF1
4 zollinger-ellison syndrome 32.7 MEN1 GAST CHGA
5 multiple endocrine neoplasia, type i 32.6 VHL SDHC SDHB RET PRKAR1A PLCB3
6 insulinoma 32.5 MEN1 GAST CHGA CALCA
7 islet cell tumor 32.4 RET MEN1 GAST CHGA CALCA
8 gastric neuroendocrine neoplasm 32.4 MEN1 GAST CHGA
9 vipoma 32.4 MEN1 GAST CHGA CALCA
10 thyroid carcinoma 32.4 TG RET NEAT1
11 glucagonoma 32.3 GAST CHGB CHGA
12 prolactinoma 32.3 PRKAR1A MEN1 CHGB CHGA
13 pancreatic cholera 32.3 MEN1 GAST CHGA CALCA
14 ganglioneuroma 32.3 RET PNMT CHGA
15 thyroid carcinoma, familial medullary 32.1 VHL TG RET PRKAR1A MEN1 GDNF
16 adrenal carcinoma 32.1 SDHB RET PRKAR1A NF1 MEN1 CHGA
17 hereditary paraganglioma-pheochromocytoma syndromes 32.0 VHL SDHC SDHB RET NF1
18 hyperparathyroidism 32.0 RET PRKAR1A MEN1 GAST CHGA CDKN1B
19 gastrinoma 32.0 MEN1 GAST CHGA
20 thyroid gland medullary carcinoma 31.9 TG RET MEN1 GDNF GAST CHGA
21 carcinoid tumors, intestinal 31.8 MEN1 GAST CHGB CHGA
22 carcinoid syndrome 31.8 CHGA CALCA
23 pituitary adenoma 31.8 RET PRKAR1A MEN1 CNC2 CHGA CDKN1B
24 pheochromocytoma 31.7 VHL SDHC SDHB RET PNMT NF1
25 hypoparathyroidism 31.6 RET PRKAR1A CALCA
26 primary hyperparathyroidism 31.6 RET PRKAR1A MEN1 GAST CHGB CHGA
27 neuroendocrine tumor 31.5 RET NF1 MEN1 GAST CHGB CHGA
28 neuroma 31.5 RET NF1 GDNF CALCA
29 adenoma 31.5 TG RET PRKAR1A MEN1 CHGA CDKN1B
30 conn's syndrome 31.5 RET PRKAR1A MEN1 CNC2 CHGA CALCA
31 adrenal adenoma 31.4 PRKAR1A MEN1 CNC2
32 hyperparathyroidism 1 31.4 MEN1 CDC73
33 hirschsprung disease 1 31.3 RET GFRA4 GDNF CALCA
34 pituitary gland disease 31.3 PRKAR1A MEN1 CDKN1B
35 inherited cancer-predisposing syndrome 31.3 VHL SDHC SDHB RET PRKAR1A NF1
36 bap1 tumor predisposition syndrome 31.3 VHL SDHC SDHB RET PRKAR1A NF1
37 parathyroid carcinoma 31.2 RET MEN1 CDC73 CALCA
38 duodenal gastrinoma 31.2 MEN1 GAST CHGA
39 pancreatic gastrinoma 31.2 MEN1 GAST CHGA
40 megacolon 31.2 RET GFRA4 GDNF
41 hyperinsulinemic hypoglycemia 31.1 MEN1 GAST CHGA
42 goiter 31.1 TG RET CALCA
43 neuroendocrine carcinoma 31.1 MEN1 GAST CHGA CALCA
44 hyperparathyroidism 2 with jaw tumors 31.0 RET MEN1 CDC73
45 parathyroid gland disease 31.0 TG RET MEN1 GAST CDC73 CALCA
46 thyroid tumor 31.0 RET PRKAR1A
47 neurofibromatosis 31.0 VHL SDHC SDHB RET NF1
48 mccune-albright syndrome 30.9 PRKAR1A NF1 MEN1
49 adrenal cortical carcinoma 30.9 SDHB RET PRKAR1A NF1 MEN1 CHGA
50 functioning pituitary adenoma 30.9 PRKAR1A MEN1 CDKN1B

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



Diseases related to Multiple Endocrine Neoplasia
Sources

Symptoms & Phenotypes for Multiple Endocrine Neoplasia

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UMLS symptoms related to Multiple Endocrine Neoplasia:


diarrhea

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 9.6 CDKN1B NF1 PRKAR1A RET VHL
2 Decreased viability GR00221-A-2 9.6 NF1 PRKAR1A RET VHL
3 Decreased viability GR00221-A-3 9.6 PRKAR1A
4 Decreased viability GR00221-A-4 9.6 NF1 PRKAR1A RET
5 Decreased viability GR00249-S 9.6 NF1 VHL
6 Decreased viability GR00301-A 9.6 RET VHL
7 Decreased viability GR00386-A-1 9.6 NF1
8 Decreased viability GR00402-S-2 9.6 RET
9 Increased cell number in S and G2M GR00096-A 8.85 PRKAR1A
10 Increased sensitivity to paclitaxel GR00112-A-0 8.65 VHL

MGI Mouse Phenotypes related to Multiple Endocrine Neoplasia:

45 (show all 14)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.38 CALCA CDC73 CDKN1B CHGA CHGB GAST
2 endocrine/exocrine gland MP:0005379 10.33 CDC73 CDKN1B CHGA CHGB GAST GDNF
3 neoplasm MP:0002006 10.28 CALCA CDC73 CDKN1B GAST MEN1 NF1
4 nervous system MP:0003631 10.26 CALCA CDC73 CDKN1B CHGA CHGB GDNF
5 renal/urinary system MP:0005367 10.21 CALCA CDC73 CDKN1B CHGA GDNF NF1
6 muscle MP:0005369 10.19 CDC73 CDKN1B CHGA GDNF MEN1 NF1
7 digestive/alimentary MP:0005381 10.14 CDC73 CDKN1B GAST GDNF MEN1 NEAT1
8 behavior/neurological MP:0005386 10.13 CALCA CDC73 CDKN1B GDNF MEN1 NEAT1
9 cardiovascular system MP:0005385 10.11 CALCA CDC73 CDKN1B CHGA GDNF MEN1
10 embryo MP:0005380 10.09 CALCA CDC73 CDKN1B MEN1 NF1 PLCB3
11 immune system MP:0005387 10.03 CDC73 CDKN1B GAST GDNF MEN1 NF1
12 reproductive system MP:0005389 9.85 CDC73 CDKN1B CHGA GDNF MEN1 NF1
13 skeleton MP:0005390 9.65 CALCA CDC73 CDKN1B GFRA4 MEN1 NF1
14 mortality/aging MP:0010768 9.5 CALCA CDC73 CDKN1B CHGA GAST GDNF
Sources

Drugs & Therapeutics for Multiple Endocrine Neoplasia

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

(show all 48)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dexlansoprazole Approved, Investigational Phase 4 138530-94-6 9578005
2
Lansoprazole Approved, Investigational Phase 4 103577-45-3 3883
3 Gastrointestinal Agents Phase 4
4 Anti-Ulcer Agents Phase 4
5 Antacids Phase 4
6 Proton Pump Inhibitors Phase 4
7
Somatostatin Approved, Investigational Phase 3 38916-34-6, 51110-01-1 53481605 16129706
8 Hormones Phase 3
9 Hormone Antagonists Phase 3
10
Aflibercept Approved Phase 2 862111-32-8 124490314
11
Octreotide Approved, Investigational Phase 2 83150-76-9 383414 6400441
12
Parathyroid hormone Approved, Investigational Phase 2 9002-64-6
13
Everolimus Approved Phase 2 159351-69-6 70789204 6442177
14
Lenvatinib Approved, Investigational Phase 2 417716-92-8 9823820
15
Sirolimus Approved, Investigational Phase 2 53123-88-9 5284616 6436030
16
Sorafenib Approved, Investigational Phase 2 284461-73-0 216239
17
Erlotinib Approved, Investigational Phase 2 183319-69-9, 183321-74-6 176870
18
Pertuzumab Approved Phase 2 380610-27-5
19 Angiogenesis Inhibitors Phase 2
20 Endothelial Growth Factors Phase 2
21 Mitogens Phase 2
22 Antineoplastic Agents, Hormonal Phase 2
23 Dihydroxyphenylalanine Phase 2
24 Protein Kinase Inhibitors Phase 2
25 Antineoplastic Agents, Immunological Phase 2
26 Immunoglobulins, Intravenous Phase 1
27 Immunoglobulins Phase 1
28 Antibodies Phase 1
29 gamma-Globulins Phase 1
30 Rho(D) Immune Globulin Phase 1
31
Vancomycin Approved 1404-90-6 14969
32
Histamine Approved, Investigational 51-45-6 774
33
Morphine Approved, Investigational 57-27-2 5288826
34
Ethanol Approved 64-17-5 702
35
Polidocanol Approved 9002-92-0 78933
36
Salmon calcitonin Approved, Investigational 47931-85-1 155817456
37
Leflunomide Approved, Investigational 75706-12-6 3899
38
D-Phenylalanine Approved, Experimental, Investigational, Nutraceutical Early Phase 1 63-91-2, 673-06-3 6140 71567
39
Calcitonin gene-related peptide Investigational 83652-28-2 91976570
40
Histamine phosphate 51-74-1 134614
41 Calcium, Dietary
42
Calcitonin
43 Katacalcin 16172926
44 Immunosuppressive Agents
45 Immunologic Factors
46 Radiopharmaceuticals Early Phase 1
47
Edotreotide Early Phase 1 23724894
48
Calcium Nutraceutical 7440-70-2 271

Interventional clinical trials:

(show all 35)
# Name Status NCT ID Phase Drugs
1 Long-Term Study of the Efficacy and Safety of Lansoprazole in the Treatment of Zollinger-Ellison and Other Acid Hypersecretors Completed NCT00204373 Phase 4 Lansoprazole (Prevacid)
2 Non-functioning Pancreatic Neuroendocrine Tumors (NF-pNETs) in Multiple Endocrine Neoplasia Type 1 (MEN1) Treated With Somatostatin Analogs (SA) Versus NO Treatment - a Prospective, Randomized, Controlled Multicenter Study Not yet recruiting NCT02705651 Phase 3 Somatostatin-Analog
3 Phase I/II Trial of Vandetanib (ZD6474, ZACTIMA) in Children and Adolescents With Hereditary Medullary Thyroid Carcinoma Completed NCT00514046 Phase 1, Phase 2 Vandetanib
4 Perfusion CT as Predictive Biomarker in a Phase II Study of Ziv-Aflibercept in Patients With Advanced Pancreatic Neuroendocrine Tumors Completed NCT02101918 Phase 2
5 A Phase 2 Study of GW786034 (Pazopanib) in Advanced Low-Grade or Intermediate-Grade Neuroendocrine Carcinoma Completed NCT00454363 Phase 2 Pazopanib Hydrochloride
6 Efficacy and Safety of High Dose Regimen of Octreotide LAR in Patients With Neuroendocrine Tumors in Progressive Disease: A Phase II, Open, Multicentric Prospective Study Completed NCT00990535 Phase 2 Octreotide-LAR
7 Studies of Hyperparathyroidism and Related Disorders Completed NCT00001277 Phase 2 68Ga-Dotatate;18F-DOPA
8 A Phase II, Open-Label Study To Assess The Efficacy and Tolerability of ZD6474 (ZACTIMAâ„¢ ) 100 mg Monotherapy In Subjects With Locally Advanced or Metastatic Hereditary Medullary Thyroid Cancer Completed NCT00358956 Phase 2 ZD6474 (vandetanib)
9 A Phase II Study of Lenvatinib in Combination With Everolimus in Patients With Advanced Carcinoid Tumors Recruiting NCT03950609 Phase 2 Everolimus;Lenvatinib
10 Phase II Study of Sorafenib (BAY 43-9006) in Patients With Metastatic Medullary Thyroid Carcinoma Active, not recruiting NCT00390325 Phase 2 Sorafenib Tosylate
11 A Phase II Study of Pertuzumab and Erlotinib for Metastatic or Unresectable Neuroendocrine Tumors Terminated NCT00947167 Phase 2 pertuzumab;erlotinib
12 The Efficacy of High-Dose Intravenous Immunoglobulin Therapy in Patients With Stiff-Man Syndrome: A Double-Blind, Placebo-Controlled Trial Completed NCT00001550 Phase 1 IVIg
13 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
14 Type 1 Multiple Endocrine Neoplasia : a Cohort Study of the Endocrine Tumor Study Group (GTE) Unknown status NCT03262129
15 Revisiting the Evidence for Routine Transcervical Thymectomy for the Prevention of Thymic Carcinoid Tumours in MEN-1 Patients a Case Series Completed NCT05061784
16 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
17 Psychosocial Aspects of Multiple Endocrine Neoplasia (MEN) Syndromes Completed NCT00501449
18 Genetic Polymorphisms Associated With Histamine Disposition in Children With Vancomycin Associated Red Man Syndrome (RMS) Completed NCT00824122
19 A Pilot Study of Genetic Evaluation of Families With Endocrine Cancers Completed NCT01794676
20 Coordination of Rare Diseases at Sanford Recruiting NCT01793168
21 Familial Investigations of Childhood Cancer Predisposition Recruiting NCT03050268
22 Study and Follow-up of Multiple Endocrine Neoplasia Type 1 Recruiting NCT03348501
23 Endoscopic Ultrasound-guided Fine-needle Injection for Multiple Endocrine Neoplasia Type 1-related Pancreatic Neuroendocrine Tumors: a Prospective Multicenter Study Recruiting NCT05554744
24 Study and Monitoring of Multiple Endocrine Neoplasia Type 1 Recruiting NCT03966612
25 PRIME Study: Precision Radiotherapy Using MR-linac for Pancreatic Neuroendocrine Tumours in MEN1 Patients Recruiting NCT05037461
26 Natural History Study of Parathyroid Disorders Recruiting NCT04969926
27 Metabolomics and Genetic Diagnosing Pancreatic Neuroendocrine Tumors in Multiple Endocrine Neoplasia Type 1 Patients Recruiting NCT03048266
28 Variables That Are Correlated to Developing Multiple Endocrine Neoplasia (MEN) and Pancreatic Neuroendocrine Tumors (PNET) Recruiting NCT03053999
29 The Registry of Oncology Outcomes Associated With Testing and Treatment (ROOT) Recruiting NCT04028479 Systemic Treatment (T)
30 Genetic Modifying Factors and Pheochromocytomas in Multiple Endocrine Neoplasia Type 2 Recruiting NCT05158712
31 Registry for Multiple Endocrine Neoplasia Syndromes: MEN1/MEN2 Active, not recruiting NCT03048279
32 Family Studies in Metabolic Diseases and Mineral Metabolism Active, not recruiting NCT00001345
33 Overall and Disease Specific Survival in Patients With Confirmed MEN1 With or Without PNET (Pancreatic Neuroendocrine Tumors) Active, not recruiting NCT03043508
34 Leflunomide Treatment for MEN1 Patients - the LUMEN1 Trial Not yet recruiting NCT05605587 Leflunomide 20 mg
35 An Expanded Access Imaging of Neuroendocrine Tumors Using 68Ga-DOTA-TOC Terminated NCT03001349 Early Phase 1 Gallium Ga 68-Edotreotide

Search NIH Clinical Center for Multiple Endocrine Neoplasia

Cochrane evidence based reviews: multiple endocrine neoplasia

Sources

Genetic Tests for Multiple Endocrine Neoplasia

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Genetic tests related to Multiple Endocrine Neoplasia:

# Genetic test Affiliating Genes
1 Multiple Endocrine Neoplasia 28
Sources

Anatomical Context for Multiple Endocrine Neoplasia

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Organs/tissues related to Multiple Endocrine Neoplasia:

MalaCards : Thyroid, Adrenal Gland, Pituitary, Pancreas, Kidney, Pancreatic Islet, Endothelial
Sources

Publications for Multiple Endocrine Neoplasia

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Articles related to Multiple Endocrine Neoplasia:

(show top 50) (show all 5915)
# Title Authors PMID Year
1
Molecular genetics and phenomics of RET mutations: Impact on prognosis of MTC. 53 62
20083156 2010
2
The tumor suppressor parafibromin is required for posttranscriptional processing of histone mRNA. 53 62
19908240 2010
3
Denaturing high performance liquid chromatography detection of SDHB, SDHD, and VHL germline mutations in pheochromocytoma. 53 62
19215943 2009
4
An immunohistochemical procedure to detect patients with paraganglioma and phaeochromocytoma with germline SDHB, SDHC, or SDHD gene mutations: a retrospective and prospective analysis. 53 62
19576851 2009
5
SDH mutations in tumorigenesis and inherited endocrine tumours: lesson from the phaeochromocytoma-paraganglioma syndromes. 53 62
19522823 2009
6
Identification and prevention of genotyping errors caused by G-quadruplex- and i-motif-like sequences. 53 62
19406917 2009
7
Use of mouse models to understand the molecular basis of tissue-specific tumorigenesis in the Carney complex. 53 62
19522826 2009
8
Head and neck paragangliomas in von Hippel-Lindau disease and multiple endocrine neoplasia type 2. 53 62
19336503 2009
9
Multiple endocrine neoplasia type 2 RET protooncogene database: repository of MEN2-associated RET sequence variation and reference for genotype/phenotype correlations. 53 62
19177457 2009
10
Assessment of p27 (cyclin-dependent kinase inhibitor 1B) and aryl hydrocarbon receptor-interacting protein (AIP) genes in multiple endocrine neoplasia (MEN1) syndrome patients without any detectable MEN1 gene mutations. 53 62
18710468 2009
11
Hypercalcitoninemia is not pathognomonic of medullary thyroid carcinoma. 53 62
19606248 2009
12
Menin, histone h3 methyltransferases, and regulation of cell proliferation: current knowledge and perspective. 53 62
19075677 2008
13
A novel PRKAR1A mutation associated with hepatocellular carcinoma in a young patient and a variable Carney complex phenotype in affected subjects in older generations. 53 62
18445140 2008
14
Possible association between Carney complex and multiple endocrine neoplasia type 1 phenotypes. 53 62
19169494 2008
15
Mutational analysis of CDKN1B, a candidate tumor-suppressor gene, in refractory secondary/tertiary hyperparathyroidism. 53 62
18288099 2008
16
Cell lineage-specific interactions between Men1 and Rb in neuroendocrine neoplasia. 53 62
17893233 2008
17
A novel RET kinase-beta-catenin signaling pathway contributes to tumorigenesis in thyroid carcinoma. 53 62
18316596 2008
18
Inherited cancer predisposition syndromes in Greece. 53 62
18505076 2008
19
RET proto-oncogene testing in infants presenting with Hirschsprung disease identifies 2 new multiple endocrine neoplasia 2A kindreds. 53 62
18206480 2008
20
Chromogranin a expression in phaeochromocytomas associated with von Hippel-Lindau syndrome and multiple endocrine neoplasia type 2. 53 62
18046660 2007
21
Screening of RET gene mutations in multiple endocrine neoplasia type-2 using conformation sensitive gel electrophoresis (CSGE). 53 62
18209889 2007
22
Mutations in genes causing human familial isolated hyperparathyroidism do not account for hyperparathyroidism in Keeshond dogs. 53 62
17158076 2007
23
[Medullary thyroid carcinoma]. 53 62
17572372 2007
24
Familial pituitary adenomas with a heterogeneous functional pattern: clinical and genetic features. 53 62
17993773 2007
25
RET signaling-induced SPHK1 gene expression plays a role in both GDNF-induced differentiation and MEN2-type oncogenesis. 53 62
17555548 2007
26
Proteomic profiling of von Hippel-Lindau syndrome and multiple endocrine neoplasia type 2 pheochromocytomas reveals different expression of chromogranin B. 53 62
17639059 2007
27
[A Multiple endocrine neoplasia type-1 observatory in a French-speaking area. A tool from the Endocrine Tumor study Group (GTE)]. 53 62
17379178 2007
28
Pheochromocytoma as a catecholamine producing tumor: implications for clinical practice. 53 62
17514588 2007
29
[Familial pituitary adenomas: clinical and genetic aspects]. 53 62
17961654 2007
30
Genotype-phenotype based surgical concept of hereditary medullary thyroid carcinoma. 53 62
17453286 2007
31
A novel MEN1 intronic mutation associated with multiple endocrine neoplasia type 1. 53 62
17388795 2007
32
[Diagnostic and therapeutic procedures in pheochromocytoma: current trends]. 53 62
17578179 2007
33
Molecular genetics of the cAMP-dependent protein kinase pathway and of sporadic pituitary tumorigenesis. 53 62
17613552 2007
34
A possible new syndrome with growth-hormone secreting pituitary adenoma, colonic polyposis, lipomatosis, lentigines and renal carcinoma in association with familial testicular germ cell malignancy: A case report. 53 62
17411461 2007
35
[Medullary thyroid carcinoma and some of its particularities]. 53 62
17897902 2007
36
Phaeochromocytoma, new genes and screening strategies. 53 62
17121518 2006
37
The p27Kip1 tumor suppressor gene: Still a suspect or proven guilty? 53 62
17097557 2006
38
Current concepts in RET-related genetics, signaling and therapeutics. 53 62
16979782 2006
39
Structure and chemical inhibition of the RET tyrosine kinase domain. 53 62
16928683 2006
40
Tumours of familial origin in the head and neck. 53 62
16857415 2006
41
Pediatric paraganglioma: an early manifestation of an adult disease secondary to germline mutations. 53 62
16304664 2006
42
[Thyroid carcinomas and Hirschsprung's disease--10-year experience with molecular genetic testing of the RET proto-oncogene]. 53 62
17063805 2006
43
An in-frame complex germline mutation in the juxtamembrane intracellular domain causing RET activation in familial medullary thyroid carcinoma. 53 62
16954442 2006
44
Loss of nuclear expression of parafibromin distinguishes parathyroid carcinomas and hyperparathyroidism-jaw tumor (HPT-JT) syndrome-related adenomas from sporadic parathyroid adenomas and hyperplasias. 53 62
16931959 2006
45
17q22-24 chromosomal losses and alterations of protein kinase a subunit expression and activity in adrenocorticotropin-independent macronodular adrenal hyperplasia. 53 62
16772351 2006
46
Characteristics of pheochromocytoma in a 4- to 20-year-old population. 53 62
17102069 2006
47
Genetic testing in pheochromocytoma: increasing importance for clinical decision making. 53 62
17102076 2006
48
Molecular implications of RET mutations for pheochromocytoma risk in multiple endocrine neoplasia 2. 53 62
17102091 2006
49
Frequent genetic changes in childhood pheochromocytomas. 53 62
17102083 2006
50
Expression of mRNAs for succinate dehydrogenase subunits and related genes in pheochromocytoma. 53 62
17102093 2006
Sources

Variations for Multiple Endocrine Neoplasia

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ClinVar genetic disease variations for Multiple Endocrine Neoplasia:

5 (show top 50) (show all 175)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RET NM_020975.6(RET):c.2410G>T (p.Val804Leu) SNV Pathogenic
 13946 rs79658334 GRCh37: 10:43614996-43614996
GRCh38: 10:43119548-43119548
2 RET NM_020975.6(RET):c.1699G>A (p.Asp567Asn) SNV Conflicting Interpretations Of Pathogenicity
 136103 rs147219360 GRCh37: 10:43608351-43608351
GRCh38: 10:43112903-43112903
3 RET NM_020975.6(RET):c.1798C>T (p.Arg600Trp) SNV Uncertain Significance
 477327 rs745418960 GRCh37: 10:43609042-43609042
GRCh38: 10:43113594-43113594
4 RET NM_020975.6(RET):c.2332G>A (p.Val778Ile) SNV Uncertain Significance
 13955 rs75686697 GRCh37: 10:43613868-43613868
GRCh38: 10:43118420-43118420
5 RET NM_020975.6(RET):c.1165C>T (p.Leu389Phe) SNV Uncertain Significance
 405539 rs895556824 GRCh37: 10:43604580-43604580
GRCh38: 10:43109132-43109132
6 RET NM_020975.6(RET):c.1264-8C>T SNV Uncertain Significance
 477310 rs769595884 GRCh37: 10:43606647-43606647
GRCh38: 10:43111199-43111199
7 RET NM_020975.6(RET):c.1462A>T (p.Thr488Ser) SNV Uncertain Significance
 241336 rs753733901 GRCh37: 10:43606853-43606853
GRCh38: 10:43111405-43111405
8 RET NM_020975.6(RET):c.1597G>A (p.Gly533Ser) SNV Uncertain Significance
 24887 rs75873440 GRCh37: 10:43607621-43607621
GRCh38: 10:43112173-43112173
9 RET NM_020975.6(RET):c.1880-5C>A SNV Uncertain Significance
 877158 rs1838016447 GRCh37: 10:43609923-43609923
GRCh38: 10:43114475-43114475
10 RET NM_020975.6(RET):c.603C>T (p.Ser201_Val202=) SNV Uncertain Significance
 477379 rs780120451 GRCh37: 10:43598055-43598055
GRCh38: 10:43102607-43102607
11 RET NM_020975.6(RET):c.628G>A (p.Glu210Lys) SNV Uncertain Significance
 405554 rs1060500762 GRCh37: 10:43600402-43600402
GRCh38: 10:43104954-43104954
12 RET NM_020975.6(RET):c.2939+7G>A SNV Uncertain Significance
 477358 rs374565577 GRCh37: 10:43619263-43619263
GRCh38: 10:43123815-43123815
13 RET NM_020975.6(RET):c.1601T>C (p.Leu534Pro) SNV Uncertain Significance
 877094 rs1206429429 GRCh37: 10:43607625-43607625
GRCh38: 10:43112177-43112177
14 RET NM_020975.6(RET):c.1890C>T (p.Cys630_Asp631=) SNV Uncertain Significance
 215909 rs781145070 GRCh37: 10:43609938-43609938
GRCh38: 10:43114490-43114490
15 RET NM_020975.6(RET):c.1162G>A (p.Val388Ile) SNV Uncertain Significance
 299891 rs776223166 GRCh37: 10:43604577-43604577
GRCh38: 10:43109129-43109129
16 MEN1 NM_001370259.2(MEN1):c.1764G>A (p.Lys588=) SNV Uncertain Significance
 215962 rs373669288 GRCh37: 11:64571875-64571875
GRCh38: 11:64804403-64804403
17 RET NM_020975.6(RET):c.596A>G (p.Asn199Ser) SNV Uncertain Significance
 299889 rs886046986 GRCh37: 10:43598048-43598048
GRCh38: 10:43102600-43102600
18 MEN1 NM_130799.2(MEN1):c.-106T>C SNV Uncertain Significance
 305320 rs886048481 GRCh37: 11:64578184-64578184
GRCh38: 11:64810712-64810712
19 RET NM_020975.6(RET):c.1879+14G>A SNV Uncertain Significance
 299895 rs532810255 GRCh37: 10:43609137-43609137
GRCh38: 10:43113689-43113689
20 RET NM_020975.6(RET):c.1420C>T (p.Arg474Trp) SNV Uncertain Significance
 299892 rs775842917 GRCh37: 10:43606811-43606811
GRCh38: 10:43111363-43111363
21 RET NM_020975.6(RET):c.2467G>A (p.Gly823Arg) SNV Uncertain Significance
 299898 rs138847998 GRCh37: 10:43615053-43615053
GRCh38: 10:43119605-43119605
22 RET NM_020975.6(RET):c.2876G>A (p.Arg959Gln) SNV Uncertain Significance
 299901 rs745650861 GRCh37: 10:43619193-43619193
GRCh38: 10:43123745-43123745
23 RET NM_020975.6(RET):c.2403C>T (p.Leu801_Leu802=) SNV Uncertain Significance
 486304 rs1554819519 GRCh37: 10:43614989-43614989
GRCh38: 10:43119541-43119541
24 RET NM_020975.6(RET):c.867+4C>G SNV Uncertain Significance
 877981 rs1837741280 GRCh37: 10:43600645-43600645
GRCh38: 10:43105197-43105197
25 RET NM_020975.6(RET):c.1649-4G>A SNV Uncertain Significance
 548897 rs369769303 GRCh37: 10:43608297-43608297
GRCh38: 10:43112849-43112849
26 RET NM_020975.6(RET):c.2129A>G (p.Lys710Arg) SNV Uncertain Significance
 580338 rs774983492 GRCh37: 10:43610177-43610177
GRCh38: 10:43114729-43114729
27 RET NM_020975.6(RET):c.2523G>T (p.Pro841_Asp842=) SNV Uncertain Significance
 184140 rs56195026 GRCh37: 10:43615109-43615109
GRCh38: 10:43119661-43119661
28 RET NM_020975.6(RET):c.2982A>C (p.Lys994Asn) SNV Uncertain Significance
 41843 rs199718928 GRCh37: 10:43620373-43620373
GRCh38: 10:43124925-43124925
29 RET NM_020975.6(RET):c.*1533A>G SNV Uncertain Significance
 877587 rs1838409564 GRCh37: 10:43625250-43625250
GRCh38: 10:43129802-43129802
30 LOC106736614, RET NM_020975.6(RET):c.-173A>G SNV Uncertain Significance
 877684 rs1359755826 GRCh37: 10:43572534-43572534
GRCh38: 10:43077086-43077086
31 RET NM_020975.6(RET):c.*180G>A SNV Uncertain Significance
 880217 rs1838382247 GRCh37: 10:43623897-43623897
GRCh38: 10:43128449-43128449
32 RET NM_020975.6(RET):c.*1516C>T SNV Uncertain Significance
 880357 rs886985086 GRCh37: 10:43625233-43625233
GRCh38: 10:43129785-43129785
33 RET NM_020975.6(RET):c.2261C>T (p.Thr754Met) SNV Uncertain Significance
 135177 rs181856591 GRCh37: 10:43612156-43612156
GRCh38: 10:43116708-43116708
34 RET NM_020975.6(RET):c.1760-12G>A SNV Uncertain Significance
 24889 rs377767392 GRCh37: 10:43608992-43608992
GRCh38: 10:43113544-43113544
35 RET NM_020975.6(RET):c.1618A>G (p.Arg540Gly) SNV Uncertain Significance
 299894 rs543376293 GRCh37: 10:43607642-43607642
GRCh38: 10:43112194-43112194
36 RET NM_020975.6(RET):c.334C>T (p.Arg112Cys) SNV Uncertain Significance
 216726 rs762626209 GRCh37: 10:43596167-43596167
GRCh38: 10:43100719-43100719
37 RET NM_020975.6(RET):c.957C>A (p.Leu319_Pro320=) SNV Uncertain Significance
 184139 rs149926238 GRCh37: 10:43601913-43601913
GRCh38: 10:43106465-43106465
38 RET NM_020975.6(RET):c.2580G>A (p.Gln860_Gly861=) SNV Uncertain Significance
 299899 rs886046988 GRCh37: 10:43615166-43615166
GRCh38: 10:43119718-43119718
39 RET NM_020975.6(RET):c.432C>T (p.Arg144_Val145=) SNV Uncertain Significance
 299888 rs756999107 GRCh37: 10:43597884-43597884
GRCh38: 10:43102436-43102436
40 RET NM_020975.6(RET):c.2847A>G (p.Gly949_Asn950=) SNV Uncertain Significance
 299900 rs886046989 GRCh37: 10:43619164-43619164
GRCh38: 10:43123716-43123716
41 RET NM_020975.6(RET):c.2050C>T (p.Pro684Ser) SNV Uncertain Significance
 299896 rs141347316 GRCh37: 10:43610098-43610098
GRCh38: 10:43114650-43114650
42 RET NM_020975.6(RET):c.693C>T (p.Arg231_Glu232=) SNV Uncertain Significance
 136123 rs576806329 GRCh37: 10:43600467-43600467
GRCh38: 10:43105019-43105019
43 CDKN1B NM_004064.5(CDKN1B):c.-271del DEL Uncertain Significance
 307653 rs886049081 GRCh37: 12:12870501-12870501
GRCh38: 12:12717567-12717567
44 CDKN1B NM_004064.5(CDKN1B):c.*554_*558del DEL Uncertain Significance
 307682 rs886049084 GRCh37: 12:12874514-12874518
GRCh38: 12:12721580-12721584
45 RET NM_020975.6(RET):c.*1109T>C SNV Uncertain Significance
 299924 rs886047006 GRCh37: 10:43624826-43624826
GRCh38: 10:43129378-43129378
46 RET NM_020975.6(RET):c.*368G>T SNV Uncertain Significance
 299907 rs756051983 GRCh37: 10:43624085-43624085
GRCh38: 10:43128637-43128637
47 MEN1 NM_001370259.2(MEN1):c.*570C>A SNV Uncertain Significance
 305296 rs886048469 GRCh37: 11:64571236-64571236
GRCh38: 11:64803764-64803764
48 RET NM_020975.6(RET):c.1109T>A (p.Met370Lys) SNV Uncertain Significance
 299890 rs886046987 GRCh37: 10:43604524-43604524
GRCh38: 10:43109076-43109076
49 RET NM_020975.6(RET):c.*824G>T SNV Uncertain Significance
 299920 rs886047002 GRCh37: 10:43624541-43624541
GRCh38: 10:43129093-43129093
50 LOC106736614, RET NM_020975.6(RET):c.-187C>A SNV Uncertain Significance
 299883 rs886046983 GRCh37: 10:43572520-43572520
GRCh38: 10:43077072-43077072

Cosmic variations for Multiple Endocrine Neoplasia:

8 (show top 50) (show all 136)
# 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 5
2 COSM90654925 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.260T>C p.V87A 3:10142107-10142107 5
3 COSM88294143 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.260T>C p.V87A 3:10142107-10142107 5
4 COSM90652830 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.373G>T p.V125F 3:10149819-10149819 5
5 COSM88293303 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.475A>G p.K159E 3:10149798-10149798 5
6 COSM88288959 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.482G>A p.R161Q 3:10149805-10149805 5
7 COSM88296074 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.250G>C p.V84L 3:10142097-10142097 5
8 COSM88292246 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.227T>A p.F76Y 3:10142074-10142074 5
9 COSM90652721 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.368A>G p.Q123R 3:10149814-10149814 5
10 COSM88292324 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.496G>T p.V166F 3:10149819-10149819 5
11 COSM90657160 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.250G>C p.V84L 3:10142097-10142097 5
12 COSM88305342 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.492G>T p.Q164H 3:10149815-10149815 5
13 COSM90653943 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.352A>G p.K118E 3:10149798-10149798 5
14 COSM90668341 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.369G>T p.Q123H 3:10149815-10149815 5
15 COSM88292236 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.491A>G p.Q164R 3:10149814-10149814 5
16 COSM90652730 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.227T>A p.F76Y 3:10142074-10142074 5
17 COSM90648957 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.359G>A p.R120Q 3:10149805-10149805 5
18 COSM90664073 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.341-3225T>G p.? 3:10146562-10146562 5
19 COSM90811579 RET adrenal gland,adrenal gland,pheochromocytoma,benign c.2753T>C p.M918T 10:43121968-43121968 5
20 COSM92347003 RET adrenal gland,adrenal gland,pheochromocytoma,benign c.2753T>C p.M918T 10:43121968-43121968 5
21 COSM142343426 RET adrenal gland,adrenal gland,pheochromocytoma,benign c.1289+3268T>C p.? 10:43114500-43114500 5
22 COSM142343204 RET adrenal gland,adrenal gland,pheochromocytoma,benign c.*102T>C p.? 10:43121968-43121968 5
23 COSM92347226 RET adrenal gland,adrenal gland,pheochromocytoma,benign c.1900T>C p.C634R 10:43114500-43114500 5
24 COSM90811811 RET adrenal gland,adrenal gland,pheochromocytoma,benign c.1900T>C p.C634R 10:43114500-43114500 5
25 COSM93530486 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.226G>T p.E76* 17:31159031-31159031 5
26 COSM93656552 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1885G>A p.G629R 17:31225134-31225134 5
27 COSM93692982 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.5665G>T p.E1889* 17:31330351-31330351 5
28 COSM93650970 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1466A>G p.Y489C 17:31214524-31214524 5
29 COSM120509060 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1466A>G p.Y489C 17:31214524-31214524 5
30 COSM93535461 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.3158C>A p.S1053* 17:31230886-31230886 5
31 COSM109968573 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.226G>T p.E76* 17:31159031-31159031 5
32 COSM109960979 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1466A>G p.Y489C 17:31214524-31214524 5
33 COSM93512112 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1885G>A p.G629R 17:31225134-31225134 5
34 COSM93508888 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.205-1G>C p.? 17:31159009-31159009 5
35 COSM93509879 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.2409+1G>A p.? 17:31227607-31227607 5
36 COSM120509488 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.205-1G>C p.? 17:31159009-31159009 5
37 COSM93507010 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.7237C>T p.Q2413* 17:31349230-31349230 5
38 COSM93662933 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.7582C>T p.Q2528* 17:31352381-31352381 5
39 COSM93654948 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.7646C>G p.S2549* 17:31356490-31356490 5
40 COSM93504734 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1721+3A>T p.? 17:31221932-31221932 5
41 COSM93507162 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1466A>G p.Y489C 17:31214524-31214524 5
42 COSM120515658 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.226G>T p.E76* 17:31159031-31159031 5
43 COSM93650764 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.7300C>T p.Q2434* 17:31349230-31349230 5
44 COSM93517207 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.7519C>T p.Q2507* 17:31352381-31352381 5
45 COSM109960306 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1724A>T p.Y575F 17:31221932-31221932 5
46 COSM93652933 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.205-1G>C p.? 17:31159009-31159009 5
47 COSM93668028 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1722-1G>A p.? 17:31223443-31223443 5
48 COSM93647950 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1721+3A>T p.? 17:31221932-31221932 5
49 COSM93688082 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.6855C>A p.Y2285* 17:31338739-31338739 5
50 COSM109961525 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.205-1G>C p.? 17:31159009-31159009 5
Sources

Expression for Multiple Endocrine Neoplasia

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

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

# Super pathways Score Top Affiliating Genes
1
Signal Transduction 66
12.81 VHL RET PRKAR1A PLCB3 NF1 MEN1
2
Neuroscience 3
12.16 RET PRKAR1A NF1 CALCA
3
Gastrin signaling pathway 74
11.48 GAST CHGA CDKN1B
4
RET signaling 66
Show member pathways
 11.02 RET GFRA4 GDNF
5
Mitochondrial complex II assembly 74
Show member pathways
 10.23 SDHC SDHB
Sources

GO Terms for Multiple Endocrine Neoplasia

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Cellular components related to Multiple Endocrine Neoplasia 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 8.92 SDHC SDHB

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

# Name GO ID Score Top Affiliating Genes
1 negative regulation of epithelial cell proliferation GO:0050680 9.55 MEN1 CDKN1B CDC73
2 glial cell-derived neurotrophic factor receptor signaling pathway GO:0035860 9.26 RET GFRA4
3 mitochondrial electron transport, succinate to ubiquinone GO:0006121 8.92 SDHC SDHB

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

# Name GO ID Score Top Affiliating Genes
1 hormone activity GO:0005179 9.23 TG GAST CHGB CALCA
Sources

Sources for Multiple Endocrine Neoplasia

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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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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