Multiple Endocrine Neoplasia, Type I disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MEN1 MCID: MLT156 MIFTS: 72	Multiple Endocrine Neoplasia, Type I (MEN1) Categories: Cancer diseases, Endocrine diseases, Gastrointestinal diseases, Genetic diseases, Neuronal diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
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Aliases & Classifications for Multiple Endocrine Neoplasia, Type I

MalaCards integrated aliases for Multiple Endocrine Neoplasia, Type I:

Name: Multiple Endocrine Neoplasia, Type I ⁵⁷

Multiple Endocrine Neoplasia Type 1 ¹¹ ²⁴ ¹⁹ ⁵⁸ ⁷⁵ ⁵³ ⁴³ ¹⁴ ⁷¹

Wermer Syndrome ⁵⁷ ¹¹ ²⁴ ¹⁹ ⁵⁸

Men1 ⁵⁷ ²⁴ ¹⁹ ⁵⁸ ⁷³

Multiple Endocrine Neoplasia, Type 1 ²⁸ ⁵

Multiple Endocrine Neoplasia 1 ⁵⁷ ¹²

Familial Multiple Endocrine Neoplasia Type I ⁷³

Neoplasia, Endocrine, Multiple, Type 1 ³⁸

Endocrine Adenomatosis, Multiple ⁵⁷

Multiple Endocrine Adenomatosis ²⁴

Endocrine Adenomatosis Multiple ¹⁹

Multiple Endocrine Neoplasia ⁷¹

Wermer's Syndrome ¹¹

Men1 Syndrome ²⁴

Men Type I ¹¹

Men I ⁵⁷

Mea I ⁵⁷

Men 1 ¹⁹

Characteristics:

Inheritance:

Multiple Endocrine Neoplasia, Type I: Autosomal dominant ⁵⁷

Multiple Endocrine Neoplasia Type 1: Autosomal dominant ⁵⁸

Prevelance:

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

Age Of Onset:

Multiple Endocrine Neoplasia Type 1: All ages ⁵⁸

GeneReviews:

²⁴

Penetrance The age-related penetrance for all clinical features surpasses 50% by age 20 years and 95% by age 40 years [brandi et al 2021].

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Cancer diseases
Anatomical: Gastrointestinal diseases Endocrine diseases Neuronal diseases

See all MalaCards categories (disease lists)

ICD10: ³²

Neoplasms

Neoplasms of uncertain or unknown behaviour

Neoplasm of uncertain or unknown behaviour of endocrine glands

Neoplasm of uncertain or unknown behaviour: Pluriglandular involvement

Orphanet: ⁵⁸

Rare gastroenterological diseases

Rare endocrine diseases

External Ids:

Disease Ontology ¹¹ DOID:10017

OMIM® ⁵⁷ 131100

OMIM Phenotypic Series ⁵⁷ PS131100

ICD9CM ³⁴ 258.01

MeSH ⁴³ D018761

NCIt ⁴⁹ C3225

SNOMED-CT ⁶⁸ 30664006

MESH via Orphanet ⁴⁴ D018761

ICD10 via Orphanet ³² D44.8

UMLS via Orphanet ⁷² C0025267

Orphanet ⁵⁸ ORPHA652

MedGen ⁴⁰ C0025267 C3149237

SNOMED-CT via HPO ⁶⁹ 109620006 128474007 128664001 more

UMLS ⁷¹ C0025267 C0027662

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Summaries for Multiple Endocrine Neoplasia, Type I

GARD: ¹⁹ Multiple endocrine neoplasia, type 1 (MEN1) causes the growth of tumors in both the endocrine system (the body's network of hormone-producing glands) and non-endocrine system. Symptoms of MEN1 include tumors of the parathyroid gland, the pituitary gland, and the pancreas, although other glands may be involved as well. These tumors are often "functional" and secrete excess hormones, which can cause a variety of health problems. Additional signs and symptoms of MEN1 may depend on the type of tumor present and which hormones are being secreted. The most common symptoms are cause by an overactive parathyroid gland and may include kidney stones; thinning of bones; nausea and vomiting; high blood pressure (hypertension); weakness; and fatigue. MEN1 is caused by genetic variants in the MEN1 gene and is inherited in an autosomal dominant pattern. It is diagnosed based on the presence of two or more endocrine tumors in one person. The results of genetic testing can help confirm the diagnosis.

MalaCards based summary: Multiple Endocrine Neoplasia, Type I, also known as multiple endocrine neoplasia type 1, is related to gastric neuroendocrine neoplasm and insulinoma, and has symptoms including diarrhea An important gene associated with Multiple Endocrine Neoplasia, Type I is MEN1 (Menin 1), and among its related pathways/superpathways are Prolactin Signaling and Signal Transduction. The drugs Dexlansoprazole and Lansoprazole have been mentioned in the context of this disorder. Affiliated tissues include pituitary, pancreas and thyroid, and related phenotypes are hypercalcemia and primary hyperparathyroidism

OMIM®: ⁵⁷ Multiple endocrine neoplasia type I (MEN1) is an autosomal dominant disorder characterized by varying combinations of tumors of parathyroids, pancreatic islets, duodenal endocrine cells, and the anterior pituitary, with 94% penetrance by age 50. Less commonly associated tumors include foregut carcinoids, lipomas, angiofibromas, thyroid adenomas, adrenocortical adenomas, angiomyolipomas, and spinal cord ependymomas. Except for gastrinomas, most of the tumors are nonmetastasizing, but many can create striking clinical effects because of the secretion of endocrine substances such as gastrin, insulin, parathyroid hormone, prolactin, growth hormone, glucagon, or adrenocorticotropic hormone (summary by Chandrasekharappa et al., 1997). Familial isolated hyperparathyroidism (see 145000) occasionally results from the incomplete expression of MEN1 (summary by Simonds et al., 2004). (131100) (Updated 08-Dec-2022)

UniProtKB/Swiss-Prot: ⁷³ Autosomal dominant disorder characterized by tumors of the parathyroid glands, gastro-intestinal endocrine tissue, the anterior pituitary and other tissues. Cutaneous lesions and nervous-tissue tumors can exist. Prognosis in MEN1 patients is related to hormonal hypersecretion by tumors, such as hypergastrinemia causing severe peptic ulcer disease (Zollinger-Ellison syndrome, ZES), primary hyperparathyroidism, and acute forms of hyperinsulinemia.

Orphanet: ⁵⁸ A rare inherited cancer syndrome, characterized by the development of multiple neuroendocrine tumors of the parathyroids, gastro-entero-pancreatic tract, and anterior pituitary gland, and less commonly the adrenal cortical gland, thymus and bronchi, with other non-endocrine tumors in some patients.

Disease Ontology: ¹¹ A multiple endocrine neoplasia that has material basis in a mutation in the MEN1 tumor suppressor gene and is characterized by over active endocrine glands frequently involving tumors of the parathyroid glands, the pituitary gland, and the pancreas.

Wikipedia: ⁷⁵ Multiple endocrine neoplasia type 1 (MEN-1) is one of a group of disorders, the multiple endocrine... more...

GeneReviews: NBK1538

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Related Diseases for Multiple Endocrine Neoplasia, Type I

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 I via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 605)

#	Related Disease	Score	Top Affiliating Genes
1	gastric neuroendocrine neoplasm	32.7	SST MEN1 GAST CHGA
2	insulinoma	32.7	SST SCT MEN1 GAST CHGA CASR
3	multiple endocrine neoplasia, type iia	32.5	SDHD RET MEN1 CDKN1B CDC73
4	hyperparathyroidism 1	32.4	MEN1 CDC73
5	multiple endocrine neoplasia, type iib	32.4	SDHD RET MEN1 CDKN1B
6	acth-secreting pituitary adenoma	32.4	SST PRL PRKAR1A MEN1
7	multiple endocrine neoplasia, type iv	32.3	RET PRKAR1A MEN1 GNAS CDKN2C CDKN1B
8	secondary hyperparathyroidism	32.2	PRKAR1A MEN1 CASR
9	paraganglioma	32.1	SST SDHD RET MEN1 CHGA
10	atrophic gastritis	32.0	SST SCT MEN1 GAST CHGA
11	hyperparathyroidism 2 with jaw tumors	32.0	RET MEN1 CDC73 CASR
12	neurofibromatosis, type i	32.0	SST SDHD RET MEN1
13	parathyroid gland disease	31.9	RET PRL MEN1 GAST CDC73 CASR
14	von hippel-lindau syndrome	31.9	SST SDHD RET MEN1 GAST CHGA
15	pancreatic endocrine carcinoma	31.9	SST MEN1 GAST CHGA
16	thyroid gland cancer	31.9	SST SDHD RET MEN1 GAST CHGA
17	thyroid gland medullary carcinoma	31.9	SST RET MEN1 GAST CHGA
18	acth-independent macronodular adrenal hyperplasia	31.9	PRKAR1A MEN1 GNAS
19	pulmonary neuroendocrine tumor	31.8	SST MEN1 CHGA
20	small intestine neuroendocrine neoplasm	31.8	SST MEN1 CDKN1B
21	skin lipoma	31.8	RET MEN1 GAST
22	hypocalciuric hypercalcemia, familial, type i	31.8	MEN1 CDKN1B CDC73 CASR
23	gastritis, familial giant hypertrophic	31.8	SST MEN1 GAST
24	somatostatinoma	31.8	SST MEN1 GAST CHGA
25	large cell neuroendocrine carcinoma	31.8	SST MEN1 CHGA
26	non-functioning pancreatic endocrine tumor	31.8	SST MEN1 GAST CHGA
27	duodenal gastrinoma	31.8	SST SCT MEN1 GAST CHGA
28	gastrointestinal neuroendocrine benign tumor	31.8	SST MEN1 GAST CHGA
29	zollinger-ellison syndrome	31.8	SST SCT MEN1 GAST CHGA
30	lung large cell carcinoma	31.8	SST MEN1 CHGA
31	pituitary infarct	31.8	SST PRL MEN1
32	gastrointestinal neuroendocrine tumor	31.8	SST MEN1 GAST CHGA
33	multiple mucosal neuroma	31.8	RET MEN1
34	pancreatic serous cystadenoma	31.8	MEN1 CHGA
35	serotonin syndrome	31.8	SST MEN1 GAST CHGA
36	gastrointestinal stromal tumor	31.8	SST SDHD RET MEN1 CHGA
37	hypocalciuric hypercalcemia, familial, type ii	31.8	MEN1 CDC73 CASR
38	pancreatic somatostatinoma	31.8	SST SCT MEN1 GAST
39	ossifying fibroma	31.8	MEN1 GNAS CDC73
40	hormone producing pituitary cancer	31.8	SST PRL PRKAR1A MEN1 GNAS
41	dicer1 syndrome	31.8	PRKAR1A MEN1 GNAS
42	sublingual gland cancer	31.8	RET MEN1
43	mccune-albright syndrome	31.8	SST PRL PRKAR1A MEN1 GNAS
44	gastrointestinal system benign neoplasm	31.8	SST MEN1 GAST CHGA
45	small intestine benign neoplasm	31.8	SST MEN1 GAST CHGA CDKN1B
46	paraganglioma and gastric stromal sarcoma	31.8	SDHD RET MEN1
47	adrenal cortical carcinoma	31.8	SDHD RET PRKAR1A MEN1 GNAS CHGA
48	familial hypocalciuric hypercalcemia	31.8	RET MEN1 CDKN2C CDKN1B CDC73 CASR
49	prolactin producing pituitary tumor	31.8	PRL MEN1
50	gastric gastrinoma	31.8	SST SCT MEN1 GAST CHGA

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

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Symptoms & Phenotypes for Multiple Endocrine Neoplasia, Type I

Human phenotypes related to Multiple Endocrine Neoplasia, Type I:

⁵⁸ ³⁰ (show top 50) (show all 87)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	hypercalcemia ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0003072
2	primary hyperparathyroidism ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0008200
3	parathyroid hyperplasia ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0008208
4	angiofibromas ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0010615
5	impairment of activities of daily living ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0031058
6	gastroesophageal reflux ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0002020
7	reduced bone mineral density ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0004349
8	multiple lipomas ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0001012
9	abdominal pain ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0002027
10	hypercalciuria ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0002150
11	peptic ulcer ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0004398
12	weight loss ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0001824
13	impotence ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0000802
14	pituitary prolactin cell adenoma ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0006767
15	galactorrhea ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0100829
16	hypergastrinemia ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0500167
17	zollinger-ellison syndrome ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0002044
18	decreased male libido ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0040306
19	adrenocortical abnormality ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0000849
20	large cafe-au-lait macules with irregular margins ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0005605
21	depression ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0000716
22	constipation ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0002019
23	hypertension ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0000822
24	dehydration ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0001944
25	vomiting ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0002013
26	nephrolithiasis ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0000787
27	anorexia ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0002039
28	hematemesis ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0002248
29	headache ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0002315
30	meningioma ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0002858
31	goiter ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0000853
32	lethargy ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0001254
33	adrenocortical carcinoma ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0006744
34	osteolysis ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0002797
35	pituitary growth hormone cell adenoma ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0011760
36	thyroid carcinoma ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0002890
37	increased susceptibility to fractures ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0002659
38	confusion ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0001289
39	short attention span ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0000736
40	gingival fibromatosis ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0000169
41	amenorrhea ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0000141
42	duodenal ulcer ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0002588
43	nausea ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0002018
44	melena ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0002249
45	shortened qt interval ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0012232
46	proportionate tall stature ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0011407
47	intestinal carcinoid ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0006723
48	insulinoma ⁵⁸ ³⁰	Very rare (1%)	Occasional (29-5%)	HP:0012197
49	confetti-like hypopigmented macules ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0007449
50	primary hypercortisolism ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0001579

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Laboratory Abnormalities:
hypoglycemia
hypercalcemia
elevated acth
abnormal secretin test
elevated gastrin concentration
more

Endocrine Features:
parathyroid adenoma
pituitary adenoma
glucagonoma
insulinoma
pancreatic islet cell adenoma
more

Neoplasia:
carcinoid tumors

Abdomen Gastrointestinal:
diarrhea
esophagitis
zollinger-ellison syndrome
intractable peptic ulcer

Skin Nails Hair Skin:
confetti-like hypopigmented macules
subcutaneous lipomas
facial angiofibromas
collagenomas
cafe-au-lait macules
more

Clinical features from OMIM®:

131100 (Updated 08-Dec-2022)

UMLS symptoms related to Multiple Endocrine Neoplasia, Type I:

diarrhea

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

²⁵

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	no effect	GR00402-S-1	10.2	CASR CDC73 CDKN1A CDKN1B CDKN2B CDKN2C
2	no effect	GR00402-S-2	10.2	CASR CDC73 CDKN1A CDKN1B CDKN2B CDKN2C
3	Decreased viability	GR00221-A-1	9.91	CDKN1B CDKN2C PRKAR1A RET SDHD
4	Decreased viability	GR00221-A-2	9.91	PRKAR1A RET SDHD
5	Decreased viability	GR00221-A-3	9.91	PRKAR1A
6	Decreased viability	GR00221-A-4	9.91	PRKAR1A RET SDHD
7	Decreased viability	GR00249-S	9.91	CDKN2C SDHD
8	Decreased viability	GR00301-A	9.91	CDKN2C RET
9	Decreased viability	GR00381-A-1	9.91	SDHD
10	Decreased viability	GR00402-S-2	9.91	RET

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

⁴⁵ (show all 21)

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	homeostasis/metabolism	MP:0005376	10.54	CASR CDC73 CDKN1A CDKN1B CDKN2B CDKN2C
2	neoplasm	MP:0002006	10.41	CDC73 CDKN1A CDKN1B CDKN2B CDKN2C GAST
3	endocrine/exocrine gland	MP:0005379	10.41	CASR CDC73 CDKN1A CDKN1B CDKN2B CDKN2C
4	nervous system	MP:0003631	10.4	CASR CDC73 CDKN1A CDKN1B CDKN2C CHGA
5	growth/size/body region	MP:0005378	10.34	CASR CDC73 CDKN1A CDKN1B CDKN2C CHGA
6	renal/urinary system	MP:0005367	10.32	CASR CDC73 CDKN1A CDKN1B CDKN2B CDKN2C
7	muscle	MP:0005369	10.31	CASR CDC73 CDKN1A CDKN1B CHGA GNAS
8	behavior/neurological	MP:0005386	10.31	CASR CDC73 CDKN1A CDKN1B CDKN2C GNAS
9	immune system	MP:0005387	10.24	CASR CDC73 CDKN1A CDKN1B CDKN2B CDKN2C
10	cellular	MP:0005384	10.23	CASR CDC73 CDKN1A CDKN1B CDKN2B CDKN2C
11	embryo	MP:0005380	10.19	CDC73 CDKN1A CDKN1B GNAS JUND MEN1
12	digestive/alimentary	MP:0005381	10.18	CASR CDC73 CDKN1A CDKN1B GAST GNAS
13	cardiovascular system	MP:0005385	10.17	CDC73 CDKN1A CDKN1B CDKN2C CHGA GNAS
14	liver/biliary system	MP:0005370	10.16	CDC73 CDKN1A CDKN1B GNAS JUND MEN1
15	no phenotypic analysis	MP:0003012	10.14	CDKN1A CDKN1B CDKN2B CHGA GNAS RET
16	adipose tissue	MP:0005375	10.09	CDC73 CDKN1A CDKN1B GNAS JUND PRKAR1A
17	reproductive system	MP:0005389	10.07	CASR CDC73 CDKN1A CDKN1B CDKN2B CDKN2C
18	respiratory system	MP:0005388	9.97	CDC73 CDKN1A CDKN1B CDKN2C GNAS JUND
19	hematopoietic system	MP:0005397	9.93	CASR CDC73 CDKN1A CDKN1B CDKN2B CDKN2C
20	mortality/aging	MP:0010768	9.89	CASR CDC73 CDKN1A CDKN1B CDKN2B CDKN2C
21	integument	MP:0010771	9.32	CASR CDC73 CDKN1A CDKN1B CDKN2B CDKN2C

Sources

Drugs & Therapeutics for Multiple Endocrine Neoplasia, Type I

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

(show all 49)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Dexlansoprazole

Approved, Investigational

Phase 4

138530-94-6

9578005

Lansoprazole

Approved, Investigational

Phase 4

103577-45-3

3883

Gastrointestinal Agents

Phase 4

Anti-Ulcer Agents

Phase 4

Antacids

Phase 4

Proton Pump Inhibitors

Phase 4

Somatostatin

Approved, Investigational

Phase 3

38916-34-6, 51110-01-1

53481605 16129706

Hormones

Phase 3

Hormone Antagonists

Phase 3

Aflibercept

Approved

Phase 2

862111-32-8

124490314

Octreotide

Approved, Investigational

Phase 2

83150-76-9

383414 6400441

Parathyroid hormone

Approved, Investigational

Phase 2

9002-64-6

Everolimus

Approved

Phase 2

159351-69-6

70789204 6442177

Lenvatinib

Approved, Investigational

Phase 2

417716-92-8

9823820

Sirolimus

Approved, Investigational

Phase 2

53123-88-9

5284616 6436030

Sorafenib

Approved, Investigational

Phase 2

284461-73-0

216239

Erlotinib

Approved, Investigational

Phase 2

183319-69-9, 183321-74-6

176870

Pertuzumab

Approved

Phase 2

380610-27-5

Angiogenesis Inhibitors

Phase 2

Endothelial Growth Factors

Phase 2

Mitogens

Phase 2

Antineoplastic Agents, Hormonal

Phase 2

Dihydroxyphenylalanine

Phase 2

Protein Kinase Inhibitors

Phase 2

Antineoplastic Agents, Immunological

Phase 2

Immunoglobulins, Intravenous

Phase 1

Immunoglobulins

Phase 1

Antibodies

Phase 1

gamma-Globulins

Phase 1

Rho(D) Immune Globulin

Phase 1

Vancomycin

Approved

1404-90-6

14969

Histamine

Approved, Investigational

51-45-6

774

Morphine

Approved, Investigational

57-27-2

5288826

Ethanol

Approved

64-17-5

702

Polidocanol

Approved

9002-92-0

78933

Salmon calcitonin

Approved, Investigational

47931-85-1

155817456

Leflunomide

Approved, Investigational

75706-12-6

3899

Formaldehyde

Approved, Vet_approved

50-00-0

712

D-Phenylalanine

Approved, Experimental, Investigational, Nutraceutical

Early Phase 1

63-91-2, 673-06-3

6140 71567

Calcitonin gene-related peptide

Investigational

83652-28-2

91976570

Histamine phosphate

51-74-1

134614

Calcium, Dietary

Calcitonin

Katacalcin

16172926

Immunosuppressive Agents

Immunologic Factors

Radiopharmaceuticals

Early Phase 1

Edotreotide

Early Phase 1

23724894

Calcium

Nutraceutical

7440-70-2

271

Interventional clinical trials:

(show all 37)

#	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	Perfusion CT as Predictive Biomarker in a Phase II Study of Ziv-Aflibercept in Patients With Advanced Pancreatic Neuroendocrine Tumors	Completed	NCT02101918	Phase 2
4	A Phase 2 Study of GW786034 (Pazopanib) in Advanced Low-Grade or Intermediate-Grade Neuroendocrine Carcinoma	Completed	NCT00454363	Phase 2	Pazopanib Hydrochloride
5	Studies of Hyperparathyroidism and Related Disorders	Completed	NCT00001277	Phase 2	68Ga-Dotatate;18F-DOPA
6	Phase I/II Trial of Vandetanib (ZD6474, ZACTIMA) in Children and Adolescents With Hereditary Medullary Thyroid Carcinoma	Completed	NCT00514046	Phase 1, Phase 2	Vandetanib
7	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
8	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)
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	A Pilot Study to Investigate Germ-Line MEN1 and SDHD Gene Mutation in Familial Cases of Carcinoid Cancer	Unknown status	NCT00672269
15	Type 1 Multiple Endocrine Neoplasia : a Cohort Study of the Endocrine Tumor Study Group (GTE)	Unknown status	NCT03262129
16	Revisiting the Evidence for Routine Transcervical Thymectomy for the Prevention of Thymic Carcinoid Tumours in MEN-1 Patients a Case Series	Completed	NCT05061784
17	A Pilot Study of Genetic Evaluation of Families With Endocrine Cancers	Completed	NCT01794676
18	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
19	Psychosocial Aspects of Multiple Endocrine Neoplasia (MEN) Syndromes	Completed	NCT00501449
20	Genetic Polymorphisms Associated With Histamine Disposition in Children With Vancomycin Associated Red Man Syndrome (RMS)	Completed	NCT00824122
21	Endoscopic Ultrasound-guided Fine-needle Injection for Multiple Endocrine Neoplasia Type 1-related Pancreatic Neuroendocrine Tumors: a Prospective Multicenter Study	Recruiting	NCT05554744
22	Familial Investigations of Childhood Cancer Predisposition	Recruiting	NCT03050268
23	Coordination of Rare Diseases at Sanford	Recruiting	NCT01793168
24	PRIME Study: Precision Radiotherapy Using MR-linac for Pancreatic Neuroendocrine Tumours in MEN1 Patients	Recruiting	NCT05037461
25	Natural History Study of Parathyroid Disorders	Recruiting	NCT04969926
26	Study and Follow-up of Multiple Endocrine Neoplasia Type 1	Recruiting	NCT03348501
27	Study and Monitoring of Multiple Endocrine Neoplasia Type 1	Recruiting	NCT03966612
28	Metabolomics and Genetic Diagnosing Pancreatic Neuroendocrine Tumors in Multiple Endocrine Neoplasia Type 1 Patients	Recruiting	NCT03048266
29	Variables That Are Correlated to Developing Multiple Endocrine Neoplasia (MEN) and Pancreatic Neuroendocrine Tumors (PNET)	Recruiting	NCT03053999
30	The Registry of Oncology Outcomes Associated With Testing and Treatment (ROOT)	Recruiting	NCT04028479		Systemic Treatment (T)
31	Genetic Modifying Factors and Pheochromocytomas in Multiple Endocrine Neoplasia Type 2	Recruiting	NCT05158712
32	Overall and Disease Specific Survival in Patients With Confirmed MEN1 With or Without PNET (Pancreatic Neuroendocrine Tumors)	Active, not recruiting	NCT03043508
33	Registry for Multiple Endocrine Neoplasia Syndromes: MEN1/MEN2	Active, not recruiting	NCT03048279
34	Family Studies in Metabolic Diseases and Mineral Metabolism	Active, not recruiting	NCT00001345
35	Leflunomide Treatment for MEN1 Patients - the LUMEN1 Trial	Not yet recruiting	NCT05605587		Leflunomide 20 mg
36	An Expanded Access Imaging of Neuroendocrine Tumors Using 68Ga-DOTA-TOC	Terminated	NCT03001349	Early Phase 1	Gallium Ga 68-Edotreotide
37	Gene Expression in Hyperparathyroidism: Identifying Molecular Differences in MEN1 Patients Versus Young MEN1 Negative Patients	Terminated	NCT03044600

Search NIH Clinical Center for Multiple Endocrine Neoplasia, Type I

Cochrane evidence based reviews: multiple endocrine neoplasia type 1

Sources

Genetic Tests for Multiple Endocrine Neoplasia, Type I

Genetic tests related to Multiple Endocrine Neoplasia, Type I:

#	Genetic test	Affiliating Genes
1	Multiple Endocrine Neoplasia, Type 1 ²⁸	MEN1

Sources

Anatomical Context for Multiple Endocrine Neoplasia, Type I

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

MalaCards : Pituitary, Pancreas, Thyroid, Spinal Cord, Thymus, Pancreatic Islet, Kidney

ODiseA: Pituitary

Sources

Publications for Multiple Endocrine Neoplasia, Type I

Articles related to Multiple Endocrine Neoplasia, Type I:

(show top 50) (show all 6318)

#	Title	Authors	PMID	Year
1	Multiple endocrine neoplasia type 1 (MEN1): analysis of 1336 mutations reported in the first decade following identification of the gene. ⁶² ²⁴ ⁵⁷ ⁵	Lemos MC...Thakker RV	17879353	2008
2	Genetic testing in familial isolated hyperparathyroidism: unexpected results and their implications. ⁶² ²⁴ ⁵⁷ ⁵	Warner J...Cardinal J	14985373	2004
3	Pituitary disease in MEN type 1 (MEN1): data from the France-Belgium MEN1 multicenter study. ⁶² ²⁴ ⁵⁷ ⁵	Verges B...Calender A	11836268	2002
4	Characterization of mutations in patients with multiple endocrine neoplasia type 1. ⁶² ²⁴ ⁵⁷ ⁵	Bassett JH...Thakker RV	9463336	1998
5	Somatic mutation of the MEN1 gene in parathyroid tumours. ⁶² ²⁴ ⁵⁷ ⁵	Heppner C...Marx SJ	9241276	1997
6	Mutation analysis of the MEN1 gene in multiple endocrine neoplasia type 1, familial acromegaly and familial isolated hyperparathyroidism. ⁵³ ⁶² ⁵⁷ ⁵	Teh BT...Salmela P	9709921	1998
7	Germline mutations of the MEN1 gene in familial multiple endocrine neoplasia type 1 and related states. ⁵³ ⁶² ⁵⁷ ⁵	Agarwal SK...Marx SJ	9215689	1997
8	Effect of multiple endocrine neoplasia type 1 (MEN1) gene mutations on premature mortality in familial MEN1 syndrome with founder mutations. ⁶² ⁵⁷ ⁵	Ebeling T...Salmela PI	15240620	2004
9	Germline mutations of the MEN1 gene in Korean families with multiple endocrine neoplasia type 1 (MEN1) or MEN1-related disorders. ⁶² ⁵⁷ ⁵	Park JH...Park JG	12791038	2003
10	A novel six-nucleotide insertion in exon 4 of the MEN1 gene, 878insCTGCAG, in three patients with familial insulinoma and primary hyperparathyroidism. ⁶² ⁵⁷ ⁵	Okamoto H...Kosugi S	12417605	2002
11	Germline mutation profile of MEN1 in multiple endocrine neoplasia type 1: search for correlation between phenotype and the functional domains of the MEN1 protein. ⁶² ⁵⁷ ⁵	Wautot V...Calender A	12112656	2002
12	Frequent occurrence of an intron 4 mutation in multiple endocrine neoplasia type 1. ⁶² ⁵⁷ ⁵	Turner JJ...Thakker RV	12050235	2002
13	Molecular and genetic mechanisms of tumorigenesis in multiple endocrine neoplasia type-1. ⁶² ⁵⁷ ⁵	Guo SS...Sawicki MP	11579199	2001
14	Familial isolated primary hyperparathyroidism--a multiple endocrine neoplasia type 1 variant? ⁵³ ⁶² ²⁴ ⁵	Miedlich S...Paschke R	11454510	2001
15	Identification of five novel germline mutations of the MEN1 gene in Japanese multiple endocrine neoplasia type 1 (MEN1) families. ⁶² ⁵⁷ ⁵	Sato M...Takahara J	9832038	1998
16	Novel V184E MEN1 germline mutation in a Japanese kindred with familial hyperparathyroidism. ⁶² ⁵⁷ ⁵	Fujimori M...Fukushima Y	9843042	1998
17	Germ-line mutation analysis in patients with multiple endocrine neoplasia type 1 and related disorders. ⁶² ⁵⁷ ⁵	Giraud S...Calender A	9683585	1998
18	Common ancestral mutation in the MEN1 gene is likely responsible for the prolactinoma variant of MEN1 (MEN1Burin) in four kindreds from Newfoundland. ⁶² ⁵⁷ ⁵	Olufemi SE...Chandrasekharappa SC	9554741	1998
19	Identification of the multiple endocrine neoplasia type 1 (MEN1) gene. The European Consortium on MEN1. ⁶² ⁵⁷ ⁵	Lemmens I...Thakker RV	9215690	1997
20	Positional cloning of the gene for multiple endocrine neoplasia-type 1. ⁶² ⁵⁷ ⁵	Chandrasekharappa SC...Marx SJ	9103196	1997
21	Variant multiple endocrine neoplasia I (MEN IBurin): further studies and non-linkage to HLA. ⁶² ⁵⁷ ⁵	Bear JC...Farid NR	2857681	1985
22	Cinacalcet therapy in patients affected by primary hyperparathyroidism associated to Multiple Endocrine Neoplasia Syndrome type 1 (MEN1). ⁶² ²⁴ ⁵	Giusti F...Brandi ML	26224587	2016
23	Impact of long-acting octreotide in patients with early-stage MEN1-related duodeno-pancreatic neuroendocrine tumours. ⁶² ²⁴ ⁵	Ramundo V...Multidisciplinary Group for Neuroendocrine Tumors of Naples	24443791	2014
24	Natural course of small, asymptomatic neuroendocrine pancreatic tumours in multiple endocrine neoplasia type 1: an endoscopic ultrasound imaging study. ⁶² ²⁴ ⁵	Kann PH...Langer P	17158764	2006
25	Gonadotroph tumor associated with multiple endocrine neoplasia type 1. ⁶² ²⁴ ⁵	Benito M...Snyder PJ	15522929	2005
26	Cutaneous tumors in patients with multiple endocrine neoplasm type 1 (MEN1) and gastrinomas: prospective study of frequency and development of criteria with high sensitivity and specificity for MEN1. ⁶² ²⁴ ⁵⁷	Asgharian B...Jensen RT	15531478	2004
27	Multiple endocrine neoplasia type 1 variant with frequent prolactinoma and rare gastrinoma. ⁶² ²⁴ ⁵⁷	Hao W...Marx SJ	15292304	2004
28	Do patients with multiple endocrine neoplasia syndrome type 1 benefit from periodical screening? ⁶² ²⁴ ⁵	Geerdink EA...Lips CJ	14641000	2003
29	Multiple endocrine neoplasia type 1 (MEN1) germline mutations in familial isolated primary hyperparathyroidism. ⁶² ²⁴ ⁵	Pannett AA...Thakker RV	12699448	2003
30	Involvement of the MEN1 gene locus in familial isolated hyperparathyroidism. ⁶² ²⁴ ⁵	Villablanca A...Larsson C	12213668	2002
31	Adrenal involvement in multiple endocrine neoplasia type 1. ⁶² ²⁴ ⁵	Langer P...Roher HD	12016472	2002
32	Guidelines for diagnosis and therapy of MEN type 1 and type 2. ⁶² ²⁴ ⁵⁷	Brandi ML...Marx SJ	11739416	2001
33	Pituitary macroadenoma in a 5-year-old: an early expression of multiple endocrine neoplasia type 1. ⁶² ²⁴ ⁵	Stratakis CA...Marx SJ	11134142	2000
34	Multiple facial angiofibromas and collagenomas in patients with multiple endocrine neoplasia type 1. ⁶² ²⁴ ⁵⁷	Darling TN...Turner M	9236523	1997
35	Prolactinomas in familial multiple endocrine neoplasia syndrome type I. Relationship to HLA and carcinoid tumors. ⁵⁷ ⁵	Farid NR...Smyth HS	6108714	1980
36	Menin promotes the Wnt signaling pathway in pancreatic endocrine cells. ⁵³ ⁶² ⁵	Chen G...Sawicki MP	19074834	2008
37	Diagnosis by serendipity: Cushing syndrome attributable to cortisol-producing adrenal adenoma as the initial manifestation of multiple endocrine neoplasia type 1 due to a rare splicing site MEN1 gene mutation. ⁵³ ⁶² ⁵	Alzahrani AS...Amin T	18753104	2008
38	Tumor suppressor menin: the essential role of nuclear localization signal domains in coordinating gene expression. ⁵³ ⁶² ⁵	La P...Hua X	16449969	2006
39	Coincidence of multiple endocrine neoplasia types 1 and 2: mutations in the RET protooncogene and MEN1 tumor suppressor gene in a family presenting with recurrent primary hyperparathyroidism. ⁵³ ⁶² ⁵	Frank-Raue K...Meng W	15870131	2005
40	A report of a national mutation testing service for the MEN1 gene: clinical presentations and implications for mutation testing. ⁵³ ⁶² ⁵	Cardinal JW...Prins JB	15635078	2005
41	Direct binding of DNA by tumor suppressor menin. ⁵³ ⁶² ⁵	La P...Hua X	15331604	2004
42	Hypermutability in a Drosophila model for multiple endocrine neoplasia type 1. ⁵³ ⁶² ⁵⁷	Busygina V...Bale AE	15333582	2004
43	Genetic screening methods for the detection of mutations responsible for multiple endocrine neoplasia type 1. ⁵³ ⁶² ⁵	Balogh K...Hunyady L	15464422	2004
44	Menin missense mutants associated with multiple endocrine neoplasia type 1 are rapidly degraded via the ubiquitin-proteasome pathway. ⁵³ ⁶² ⁵	Yaguchi H...Tsukada T	15254225	2004
45	Unusual presentation of multiple endocrine neoplasia type 1 in a young woman with a novel mutation of the MEN1 gene. ⁵³ ⁶² ⁵	Balogh K...Racz K	15205994	2004
46	Prospective controlled trial of a standardized meal stimulation test in the detection of pancreaticoduodenal endocrine tumours in patients with multiple endocrine neoplasia type 1. ⁵³ ⁶² ⁵	Langer P...Bartsch DK	11578300	2001
47	Identification of MEN1 gene mutations in families with MEN 1 and related disorders. ⁵³ ⁶² ⁵	Bergman L...Hayward N	10993647	2000
48	Criteria for mutation analysis in MEN 1-suspected patients: MEN 1 case-finding. ⁵³ ⁶² ⁵	Roijers JF...Lips CJ	10849016	2000
49	MEN1 gene mutation analysis in Italian patients with multiple endocrine neoplasia type 1. ⁵³ ⁶² ⁵	Morelli A...Brandi ML	10664520	2000
50	Menin, the product of the MEN1 gene, is a nuclear protein. ⁵³ ⁶² ⁵⁷	Guru SC...Chandrasekharappa SC	9465067	1998

Sources

Genes for Multiple Endocrine Neoplasia, Type I

Genes related to Multiple Endocrine Neoplasia, Type I (5 elite genes):

(show top 50) (show all 58)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	MEN1	Menin 1	Protein Coding	1715.42	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative germline mutation ⁵⁸ Causative variation ⁷³ Genetic Tests ²⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications (show sections)	215689 2857681 6108714 (more) 9103196 9215689 9215690 9241276 9329390 9437237 9439676 9463336 9536098 9554741 9564891 9671267 9683585 9709921 9709985 9792884 9820618 9832038 9843042 9888389 9893679 9989505 10090472 10424788 10598193 10617276 10660339 10664520 10730900 10762295 10849016 10861493 10993647 11134142 11303512 11454510 11578300 11579199 11836268 12016472 12049533 12050235 12112656 12213668 12509449 12652570 12746426 12791038 14508515 14641000 14985373 15044367 15205994 15240620 15254225 15281352 15331604 15464422 15522929 15635078 15670192 15714081 15730416 15870131 16199547 16430712 16449969 16563611 17065424 17158764 17185897 17235589 17555499 17576681 17623761 17766710 17853334 17879353 18753104 19074834 19174080 19350320 19953642 20231234 20833329 20960638 21127195 21264250 21340156 21340165 21369528 21627674 21819486 21916912 21917868 22026581 22090276 22275377 22327296 22470073 23093699 23154721 23321498 23334809 24443791 24599222 24915123 25291050 25309785 25527055 25733923 25824098 26224587 26767918 28238068 28321559 28503312 28736585 28818680 28870973 29036195 29455199 29497973 30324798 30339208 30364322 30820182 31044390 31249555 31275768 31658439 33840689 34183184 12417605 12699448 19068082 24756045 29039523 29174091 20301710 10709111 12210500 12145286 16997566 11419921 9893060 19491073 10595737 12021209 10092066 12459032 11302744 10565680 8981014 9641896 15067750 17000701 11580998 10812010 10441003 10407216 10378509 10357696 9253601 1354639 18753103 10959095 10087948 9709923 9465067 20175450 19654304 16594911 18752793 12813918 11980616 10963041 10945663 10612420 9745428 20175455 18598942 17613552 9724078 9681841 9626148 17803708 17927973 16651450 16794369 15947114 15761658 15256779 15135786 17455252 17222504 16304664 16943588 15962670 15333582 11435815 11030206 18194935 15292357 11712086 11369988 11205236 9598800 1362397 12239610 11966738 11064160 11050843 10915003 1680115 19075677 19474519 19170121 18350655 15082967 12915685 15026366 14604749 11114630 10759881
2	CDKN1B	Cyclin Dependent Kinase Inhibitor 1B	Protein Coding	39.8	Candidate gene tested ⁵⁸ DISEASES inferred ¹⁴ Novoseek inferred ⁵³	22026581 25824098 17613552 (more) 18673462 17299066 17803708
3	CDKN2C	Cyclin Dependent Kinase Inhibitor 2C	Protein Coding	31.54	Candidate gene tested ⁵⁸ DISEASES inferred ¹⁴	19141585
4	CDKN2B	Cyclin Dependent Kinase Inhibitor 2B	Protein Coding	29.83	Candidate gene tested ⁵⁸ DISEASES inferred ¹⁴	19141585
5	CDKN1A	Cyclin Dependent Kinase Inhibitor 1A	Protein Coding	28.66	Candidate gene tested ⁵⁸ DISEASES inferred ¹⁴	19141585
6	RET	Ret Proto-Oncogene	Protein Coding	39.78	Likely pathogenic ⁵ DISEASES inferred ¹⁴ Novoseek inferred ⁵³	8570194 9012462 9242375 (more) 10445857 10490816 15753368 10805954 10220148 11205236 15292357 10915003 11030206 15640547 7752481 15870131 10396361
7	PYGM	Glycogen Phosphorylase, Muscle Associated	Protein Coding	23.44	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	9272177 9341881 7906100 (more) 9150722
8	CHGA	Chromogranin A	Protein Coding	23.15	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	12534356 10443665 11204811 (more) 16886955 15104570 2347900
9	SST	Somatostatin	Protein Coding	23	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	18485119 12181718 9113312 (more) 16222731
10	GAST	Gastrin	Protein Coding	18.34	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	1802924 11419921 8924487 (more) 8102327 17101322 10738315 11454510 7762739 11578300 7698542 9465604
11	CDC73	Cell Division Cycle 73	Protein Coding	16.48	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	12960210 19474519 19705144 (more) 10396361 17639062
12	PRKAR1A	Protein Kinase CAMP-Dependent Type I Regulatory Subunit Alpha	Protein Coding	15.88	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	17613552 17893250
13	PLCB3	Phospholipase C Beta 3	Protein Coding	15.61	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	9003511 7491535
14	SCT	Secretin	Protein Coding	15.6	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	1802924
15	JUND	JunD Proto-Oncogene, AP-1 Transcription Factor Subunit	Protein Coding	14.42	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	15126560 14559791
16	GNAS	GNAS Complex Locus	Protein Coding	14.26	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	8964883 16311409 18226729 (more) 17613552
17	CASR	Calcium Sensing Receptor	Protein Coding	13.94	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	8981014 19474519 18430790
18	SF1	Splicing Factor 1	Protein Coding	13.66	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	9150722 9506990
19	SDHD	Succinate Dehydrogenase Complex Subunit D	Protein Coding	13.4	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	19522821 12928344 18045948
20	PRL	Prolactin	Protein Coding	13.3	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	7913028 9465604 12459032 (more) 8675591 8924487 11454510 15031321
21	PTH	Parathyroid Hormone	Protein Coding	12.53	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	1639936
22	SDHB	Succinate Dehydrogenase Complex Iron Sulfur Subunit B	Protein Coding	11.94	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	19522821 12928344 18045948
23	FGF2	Fibroblast Growth Factor 2	Protein Coding	11.51	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
24	SDHC	Succinate Dehydrogenase Complex Subunit C	Protein Coding	11.26	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	19522821 18045948
25	GHRH	Growth Hormone Releasing Hormone	Protein Coding	11.23	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	15126555 7962343
26	CNC2	Carney Complex Type 2, Multiple Neoplasia And Lentiginosis	Genetic Locus	10.48	Novoseek inferred ⁵³	15761655 18990538 19153518 (more) 16625848 19170361 17047380 17001464 11061550 19945022 19169494 17914118 15281351 17893250 15135786 10690880 19522822 16787992 19407507
27	SMAD3	SMAD Family Member 3	Protein Coding	10.37	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	12161532
28	NUDT6	Nudix Hydrolase 6	Protein Coding	10.24	Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	10534680 7846920
29	NF1	Neurofibromin 1	Protein Coding	9.78	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	16304664
30	VHL	Von Hippel-Lindau Tumor Suppressor	Protein Coding	9.23	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	16304664 19238077
31	DPF2	Double PHD Fingers 2	Protein Coding	8.55	GeneCards inferred via : Summaries (show sections)
32	GHRHR	Growth Hormone Releasing Hormone Receptor	Protein Coding	7.81	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	11158006
33	MIR24-1	MicroRNA 24-1	RNA Gene	7.71	DISEASES inferred ¹⁴ ¹⁴
34	AIP	Aryl Hydrocarbon Receptor Interacting Protein	Protein Coding	7.67	DISEASES inferred ¹⁴
35	PAGR1	PAXIP1 Associated Glutamate Rich Protein 1	Protein Coding	7.37	DISEASES inferred ¹⁴ ¹⁴
36	PPY	Pancreatic Polypeptide	Protein Coding	7.01	DISEASES inferred ¹⁴
37	MIR483	MicroRNA 483	RNA Gene	6.95	DISEASES inferred ¹⁴ ¹⁴
38	MIR139	MicroRNA 139	RNA Gene	6.7	DISEASES inferred ¹⁴ ¹⁴
39	H2AC18	H2A Clustered Histone 18	Protein Coding	6.68	DISEASES inferred ¹⁴ ¹⁴
40	DAXX	Death Domain Associated Protein	Protein Coding	6.64	DISEASES inferred ¹⁴
41	GCG	Glucagon	Protein Coding	6.61	DISEASES inferred ¹⁴
42	GPR101	G Protein-Coupled Receptor 101	Protein Coding	6.48	DISEASES inferred ¹⁴
43	SYP	Synaptophysin	Protein Coding	6.46	DISEASES inferred ¹⁴
44	POMC	Proopiomelanocortin	Protein Coding	6.44	DISEASES inferred ¹⁴
45	MIR21	MicroRNA 21	RNA Gene	6.38	DISEASES inferred ¹⁴ ¹⁴
46	GHRL	Ghrelin And Obestatin Prepropeptide	Protein Coding	6.35	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	12414844 16278790
47	ATRX	ATRX Chromatin Remodeler	Protein Coding	6.23	DISEASES inferred ¹⁴
48	INS	Insulin	Protein Coding	6.18	DISEASES inferred ¹⁴
49	ARMC5	Armadillo Repeat Containing 5	Protein Coding	6.06	DISEASES inferred ¹⁴
50	SSTR2	Somatostatin Receptor 2	Protein Coding	6.03	DISEASES inferred ¹⁴

Sources

Variations for Multiple Endocrine Neoplasia, Type I

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

⁵ (show top 50) (show all 1460)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	MEN1	NM_001370259.2(MEN1):c.593G>A (p.Trp198Ter)	SNV	Pathogenic	16682	rs104894258	GRCh37: 11:64575424-64575424 GRCh38: 11:64807952-64807952
2	MEN1	NM_001370259.2(MEN1):c.1306T>A (p.Trp436Arg)	SNV	Pathogenic	16686	rs104894259	GRCh37: 11:64572550-64572550 GRCh38: 11:64805078-64805078
3	MEN1	NM_001370259.2(MEN1):c.1307G>A (p.Trp436Ter)	SNV	Pathogenic	16687	rs104894260	GRCh37: 11:64572549-64572549 GRCh38: 11:64805077-64805077
4	MEN1	NM_001370259.2(MEN1):c.763G>A (p.Glu255Lys)	SNV	Pathogenic	16696	rs104894268	GRCh37: 11:64575044-64575044 GRCh38: 11:64807572-64807572
5	MEN1	NM_001370259.2(MEN1):c.551T>A (p.Val184Glu)	SNV	Pathogenic	16697	rs104894262	GRCh37: 11:64575466-64575466 GRCh38: 11:64807994-64807994
6	MEN1	NM_001370259.2(MEN1):c.631_634del (p.Val211fs)	DEL	Pathogenic	16702	rs1941851693	GRCh37: 11:64575383-64575386 GRCh38: 11:64807911-64807914
7	MEN1	NM_001370259.2(MEN1):c.1062C>A (p.Cys354Ter)	SNV	Pathogenic	16705	rs104894265	GRCh37: 11:64573230-64573230 GRCh38: 11:64805758-64805758
8	MEN1	NG_008929.1:g.11484_11495del	DEL	Pathogenic	16708	rs760199250	GRCh37: 11:64572272-64572283 GRCh38: 11:64804800-64804811
9	MEN1	NM_001370259.2(MEN1):c.211_212del (p.Pro71fs)	DEL	Pathogenic	36526	rs386134251	GRCh37: 11:64577370-64577371 GRCh38: 11:64809898-64809899
10	MEN1	NM_001370259.2(MEN1):c.1351-1G>A	SNV	Pathogenic	241801	rs794728629	GRCh37: 11:64572289-64572289 GRCh38: 11:64804817-64804817
11	MEN1	NM_001370259.2(MEN1):c.323del (p.Arg108fs)	DEL	Pathogenic	241811	rs878855191	GRCh37: 11:64577259-64577259 GRCh38: 11:64809787-64809787
12	MEN1	NM_001370259.2(MEN1):c.358A>T (p.Lys120Ter)	SNV	Pathogenic	241812	rs878855192	GRCh37: 11:64577224-64577224 GRCh38: 11:64809752-64809752
13	MEN1	NM_001370259.2(MEN1):c.633del (p.Asn212fs)	DEL	Pathogenic	241818	rs878855196	GRCh37: 11:64575384-64575384 GRCh38: 11:64807912-64807912
14	MEN1	NC_000011.10:g.(?_64803514)_(64804816_?)del	DEL	Pathogenic	417317		GRCh37: 11:64570986-64572288 GRCh38: 11:64803514-64804816
15	MEN1	NM_001370259.2(MEN1):c.168del (p.Asn57fs)	DEL	Pathogenic	403837	rs1060499990	GRCh37: 11:64577414-64577414 GRCh38: 11:64809942-64809942
16	MEN1	NM_001370259.2(MEN1):c.1351-2A>G	SNV	Pathogenic	403832	rs1060499986	GRCh37: 11:64572290-64572290 GRCh38: 11:64804818-64804818
17	MEN1	NM_001370259.2(MEN1):c.824+1G>T	SNV	Pathogenic	403810	rs1060499976	GRCh37: 11:64574650-64574650 GRCh38: 11:64807178-64807178
18	MEN1	NM_001370259.2(MEN1):c.252_253insTT (p.Ile85fs)	INSERT	Pathogenic	403822	rs386134253	GRCh37: 11:64577329-64577330 GRCh38: 11:64809857-64809858
19	MEN1	NC_000011.10:g.(?_64803514)_(64810132_?)del	DEL	Pathogenic	417316		GRCh37: 11:64570986-64577604 GRCh38: 11:64803514-64810132
20	MEN1	NM_001370259.2(MEN1):c.318T>A (p.Tyr106Ter)	SNV	Pathogenic	403833	rs1060499987	GRCh37: 11:64577264-64577264 GRCh38: 11:64809792-64809792
21	MEN1	NM_001370259.2(MEN1):c.280_284dup (p.Gln96fs)	DUP	Pathogenic	403815	rs1555166494	GRCh37: 11:64577297-64577298 GRCh38: 11:64809825-64809826
22	MEN1	NM_001370259.2(MEN1):c.1412G>A (p.Trp471Ter)	SNV	Pathogenic	403839	rs1060499991	GRCh37: 11:64572227-64572227 GRCh38: 11:64804755-64804755
23	MEN1	NM_001370259.2(MEN1):c.1024del (p.Ala342fs)	DEL	Pathogenic	16684	rs1555164986	GRCh37: 11:64573729-64573729 GRCh38: 11:64806257-64806257
24	MEN1	NM_001370259.2(MEN1):c.1375_1382del (p.Ser459fs)	DEL	Pathogenic	457290	rs1555163883	GRCh37: 11:64572257-64572264 GRCh38: 11:64804785-64804792
25	MEN1	NM_001370259.2(MEN1):c.739_745del (p.Ile247fs)	DEL	Pathogenic	457337	rs1555165503	GRCh37: 11:64575062-64575068 GRCh38: 11:64807590-64807596
26	MEN1	NM_001370259.2(MEN1):c.1382_1404dup (p.Glu469fs)	DUP	Pathogenic	403843	rs1555163780	GRCh37: 11:64572234-64572235 GRCh38: 11:64804762-64804763
27	MEN1	NM_001370259.2(MEN1):c.317_318del (p.Tyr106fs)	DEL	Pathogenic	457321	rs1555166466	GRCh37: 11:64577264-64577265 GRCh38: 11:64809792-64809793
28	MEN1	NM_001370259.2(MEN1):c.1351-1G>C	SNV	Pathogenic	200985	rs794728629	GRCh37: 11:64572289-64572289 GRCh38: 11:64804817-64804817
29	MEN1	NM_001370259.2(MEN1):c.1535C>G (p.Ser512Ter)	SNV	Pathogenic	457305	rs141679530	GRCh37: 11:64572104-64572104 GRCh38: 11:64804632-64804632
30	MEN1	NM_001370259.2(MEN1):c.940_1050-227del	DEL	Pathogenic	457345		GRCh37: 11:64573469-64573813 GRCh38: 11:64805997-64806341
31	MEN1	NM_001370259.2(MEN1):c.548G>A (p.Trp183Ter)	SNV	Pathogenic	201009	rs794728650	GRCh37: 11:64575469-64575469 GRCh38: 11:64807997-64807997
32	MEN1	NM_001370259.2(MEN1):c.1103C>A (p.Ala368Asp)	SNV	Pathogenic	547518	rs1555164707	GRCh37: 11:64573189-64573189 GRCh38: 11:64805717-64805717
33	MEN1	NM_001370259.2(MEN1):c.322_323insT (p.Arg108fs)	INSERT	Pathogenic	567215	rs1565651568	GRCh37: 11:64577259-64577260 GRCh38: 11:64809787-64809788
34	MEN1	NM_001370259.2(MEN1):c.1674dup (p.Lys559fs)	DUP	Pathogenic	569154	rs1565635941	GRCh37: 11:64571964-64571965 GRCh38: 11:64804492-64804493
35	MEN1	NM_001370259.2(MEN1):c.625C>T (p.Gln209Ter)	SNV	Pathogenic	571001	rs1565647767	GRCh37: 11:64575392-64575392 GRCh38: 11:64807920-64807920
36	MEN1	NM_001370259.2(MEN1):c.659G>A (p.Trp220Ter)	SNV	Pathogenic	574621	rs1565647197	GRCh37: 11:64575148-64575148 GRCh38: 11:64807676-64807676
37	MEN1	NM_001370259.2(MEN1):c.1050-2A>T	SNV	Pathogenic	576171	rs1565642765	GRCh37: 11:64573244-64573244 GRCh38: 11:64805772-64805772
38	MEN1	NM_001370259.2(MEN1):c.1351-2_*132del	DEL	Pathogenic	580649	rs1565634591	GRCh37: 11:64571674-64572290 GRCh38: 11:64804202-64804818
39	MEN1	NM_001370259.2(MEN1):c.1334del (p.Gly445fs)	DEL	Pathogenic	581965	rs1565640081	GRCh37: 11:64572522-64572522 GRCh38: 11:64805050-64805050
40	MEN1	NM_001370259.2(MEN1):c.1174del (p.Glu392fs)	DEL	Pathogenic	265238	rs386134247	GRCh37: 11:64573118-64573118 GRCh38: 11:64805646-64805646
41	MEN1	NM_001370259.2(MEN1):c.734del (p.Pro245fs)	DEL	Pathogenic	623186	rs1565646772	GRCh37: 11:64575073-64575073 GRCh38: 11:64807601-64807601
42	MEN1	NM_001370259.2(MEN1):c.495C>A (p.Cys165Ter)	SNV	Pathogenic	640227	rs1592651767	GRCh37: 11:64575522-64575522 GRCh38: 11:64808050-64808050
43	MEN1	NM_001370259.2(MEN1):c.746_749dup (p.Thr251fs)	DUP	Pathogenic	642851	rs1592648830	GRCh37: 11:64575057-64575058 GRCh38: 11:64807585-64807586
44	MEN1	NM_001370259.2(MEN1):c.134A>G (p.Glu45Gly)	SNV	Pathogenic	643100	rs1592660101	GRCh37: 11:64577448-64577448 GRCh38: 11:64809976-64809976
45	MEN1	NM_001370259.2(MEN1):c.758del (p.Ser253fs)	DEL	Pathogenic	646514	rs1592648765	GRCh37: 11:64575049-64575049 GRCh38: 11:64807577-64807577
46	MEN1	NM_001370259.2(MEN1):c.1050-2A>G	SNV	Pathogenic	646754	rs1565642765	GRCh37: 11:64573244-64573244 GRCh38: 11:64805772-64805772
47	MEN1	NM_001370259.2(MEN1):c.1219_1220del (p.Asp406_Pro407insTer)	DEL	Pathogenic	649025	rs1592637455	GRCh37: 11:64572636-64572637 GRCh38: 11:64805164-64805165
48	MEN1	NM_001370259.2(MEN1):c.1311del (p.Thr438fs)	DEL	Pathogenic	650907	rs1555164184	GRCh37: 11:64572545-64572545 GRCh38: 11:64805073-64805073
49	MEN1	NM_001370259.2(MEN1):c.1220_1221del (p.Pro407fs)	DEL	Pathogenic	651589	rs1592637440	GRCh37: 11:64572635-64572636 GRCh38: 11:64805163-64805164
50	MEN1	NM_001370259.2(MEN1):c.795G>A (p.Trp265Ter)	SNV	Pathogenic	653034	rs1592647398	GRCh37: 11:64574680-64574680 GRCh38: 11:64807208-64807208

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

⁷³ (show top 50) (show all 90)

#	Symbol	AA change	Variation ID	SNP ID
1	MEN1	p.Pro12Leu	VAR_005425	rs794728614
2	MEN1	p.Leu22Arg	VAR_005426	rs104894256
3	MEN1	p.Glu26Lys	VAR_005427	rs28931612
4	MEN1	p.Leu39Trp	VAR_005428
5	MEN1	p.Gly42Asp	VAR_005429
6	MEN1	p.Glu45Gly	VAR_005430	rs1592660101
7	MEN1	p.His139Asp	VAR_005432	rs104894263
8	MEN1	p.His139Tyr	VAR_005433
9	MEN1	p.Lys135Ile	VAR_005434
10	MEN1	p.Phe144Val	VAR_005436	rs1114167543
11	MEN1	p.Ala165Pro	VAR_005437	rs1565648656
12	MEN1	p.Ala169Asp	VAR_005438
13	MEN1	p.Asp177Tyr	VAR_005441	rs1114167494
14	MEN1	p.Ala181Pro	VAR_005442	rs376872829
15	MEN1	p.Glu184Asp	VAR_005443	rs1555165811
16	MEN1	p.Trp188Ser	VAR_005444
17	MEN1	p.Leu228Pro	VAR_005446	rs886039415
18	MEN1	p.Ala247Val	VAR_005447
19	MEN1	p.Leu269Pro	VAR_005449
20	MEN1	p.Ala289Glu	VAR_005451	rs1565645563
21	MEN1	p.Leu291Pro	VAR_005452
22	MEN1	p.Ala314Pro	VAR_005453
23	MEN1	p.Arg319Pro	VAR_005454
24	MEN1	p.Ala342Asp	VAR_005455	rs2071312
25	MEN1	p.Trp346Arg	VAR_005456
26	MEN1	p.Thr349Arg	VAR_005457
27	MEN1	p.Glu364Lys	VAR_005458	rs387906552
28	MEN1	p.Ala373Asp	VAR_005460	rs1555164707
29	MEN1	p.Asp423Asn	VAR_005461	rs104894264
30	MEN1	p.Trp441Arg	VAR_005464	rs104894259
31	MEN1	p.Phe452Ser	VAR_005465
32	MEN1	p.Ser560Asn	VAR_005467	rs863224527
33	MEN1	p.Gly161Asp	VAR_008017	rs794728648
34	MEN1	p.Cys246Arg	VAR_008018	rs1592649108
35	MEN1	p.Glu45Lys	VAR_039587	rs1114167491
36	MEN1	p.Arg98Leu	VAR_039588
37	MEN1	p.Gly110Glu	VAR_039589	rs1389398299
38	MEN1	p.His139Pro	VAR_039590
39	MEN1	p.His139Arg	VAR_039591	rs1114167515
40	MEN1	p.Asp158Val	VAR_039592	rs1565648789
41	MEN1	p.Ser159Ile	VAR_039593
42	MEN1	p.Ser160Phe	VAR_039594
43	MEN1	p.Ala165Thr	VAR_039595
44	MEN1	p.Val167Phe	VAR_039596
45	MEN1	p.Cys170Arg	VAR_039597
46	MEN1	p.Leu173Pro	VAR_039598	rs386134256
47	MEN1	p.Glu184Lys	VAR_039599	rs1064793167
48	MEN1	p.Glu184Gln	VAR_039600
49	MEN1	p.His186Arg	VAR_039601
50	MEN1	p.Trp188Arg	VAR_039602	rs1555165791

Copy number variations for Multiple Endocrine Neoplasia, Type I from CNVD:

⁶

#	CNVD ID	Chromosome	Start	End	Type	Gene Symbol	CNVD Disease
1	57470	11	63400000	77100000	Copy number	MEN1	Multiple endocrine neoplasia type 1

Sources

Expression for Multiple Endocrine Neoplasia, Type I

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

Sources

Pathways for Multiple Endocrine Neoplasia, Type I

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

(show all 17)

#	Super pathways	Score	Top Affiliating Genes
1	Prolactin Signaling ⁶⁴ Show member pathways Development Prolactin receptor signaling ²² EGFR Inhibitor Pathway, Pharmacodynamics ⁶⁰ EGFR tyrosine kinase inhibitor resistance ⁷⁴ ErbB Family Pathway ⁶⁴ ErbB signaling pathway ⁷⁴ ErbB2-ErbB3 Heterodimers ⁶⁴ ErbB4 Pathway ⁶⁴ Estrogen-stimulated signaling through PRKCZ ⁶⁶ Glioblastoma Multiforme ⁶⁴ Glioblastoma signaling pathways ⁷⁴ Growth Hormone Signaling ⁶⁴ HMGB1 Pathway ⁶⁴ IL-2 Pathway ⁶⁴ LPS Stimulated MAPK Signaling ⁶⁴ PACAP Signaling ⁶⁴ PI3K Signaling in B-Lymphocyte ⁶⁴ TCA cycle nutrient use and invasiveness of ovarian cancer ⁷⁴ Thrombopoietin Pathway ⁶⁴ TREM1 Pathway ⁶⁴ UVA-Induced MAPK Signaling ⁶⁴ UVB-Induced MAPK Signaling ⁶⁴ UVC-Induced MAPK Signaling ⁶⁴	13.22	CDKN1A CDKN1B CDKN2B CDKN2C GNAS PLCB3
2	Signal Transduction ⁶⁶	12.88	SST SCT RET PRKAR1A PLCB3 MEN1
3	DNA Damage ³	12.34	CDKN2C CDKN1B CDKN1A CDC73
4	Aberrant regulation of mitotic G1/S transition in cancer due to RB1 defects ⁶⁶ Show member pathways Aberrant regulation of mitotic cell cycle due to RB1 defects ⁶⁶ Aberrant regulation of mitotic exit in cancer due to RB1 defects ⁶⁶ Cell cycle Cell cycle (generic schema) ²² Cell cycle Regulation of G1/S transition (part 2) ²² Cyclin D associated events in G1 ⁶⁶ Defective binding of RB1 mutants to E2F1,(E2F2, E2F3) ⁶⁶ Defective translocation of RB1 mutants to the nucleus ⁶⁶ Diseases of mitotic cell cycle ⁶⁶ Drug-mediated inhibition of CDK4/CDK6 activity ⁶⁶ G1 Phase ⁶⁶ G2 Phase ⁶⁶ Phosphorylation of proteins involved in G1/S transition by active Cyclin E:Cdk2 complexes ⁶⁶ PTK6 Regulates Cell Cycle ⁶⁶	12.31	CDKN2C CDKN2B CDKN1B CDKN1A
5	Mitotic G1 phase and G1/S transition ⁶⁶ Show member pathways G1/S Transition ⁶⁶	12.3	CDKN2C CDKN2B CDKN1B CDKN1A
6	Vitamin D receptor pathway ⁷⁴	12.06	CDKN2C CDKN2B CDKN1B CDKN1A
7	Cell cycle ⁷⁴ Show member pathways G1 to S cell cycle control ⁷⁴	12.04	CDKN2C CDKN2B CDKN1B CDKN1A
8	Beta-2 adrenergic-dependent CFTR expression ²² Show member pathways CREB1 phosphorylation through the activation of Adenylate Cyclase ⁶⁶ Development Beta-adrenergic receptors signaling via cAMP ²² Development Role of Activin A in cell differentiation and proliferation ²² FCGR activation ⁶⁶ FCGR3A-mediated IL10 synthesis ⁶⁶ Inhibitory action of Lipoxin A4 on PDGF, EGF and LTD4 signaling ²² Major receptors targeted by epinephrine and norepinephrine ⁷⁴ Neurophysiological process PGE2-induced pain processing ²² PKA activation ⁶⁶ PKA activation in glucagon signalling ⁶⁶ PKA-mediated phosphorylation of CREB ⁶⁶	11.98	PYGM PRKAR1A GNAS CDKN2B CDKN1B CDKN1A
9	Cyclins and Cell Cycle Regulation ⁶⁴ Show member pathways Cell Cycle Control by BTG Proteins ⁶⁴ G1-S Phase Transition ⁶⁴	11.77	CDKN2C CDKN2B CDKN1B CDKN1A
10	Small cell lung cancer ⁷⁴	11.72	CDKN2B CDKN1B CDKN1A
11	Visual Cycle in Retinal Rods ⁶⁴	11.53	PLCB3 GNAS CDKN1B CDKN1A
12	E2F transcription factor network ⁶¹	11.52	CDKN2C CDKN1B CDKN1A
13	Gastrin signaling pathway ⁷⁴	11.51	CDKN1A CDKN1B CHGA GAST
14	Validated targets of C-MYC transcriptional repression ⁶¹	11.48	CDKN2B CDKN1B CDKN1A
15	Apoptosis-related network due to altered Notch3 in ovarian cancer ⁷⁴	11.35	JUND CDKN1B CDKN1A
16	Proton Pump Inhibitor Pathway, Pharmacodynamics ⁶⁰	11.23	PLCB3 GNAS CASR
17	Development_Hedgehog and PTH signaling pathways in bone and cartilage development ²²	11.14	PRKAR1A PLCB3 GNAS

Sources

GO Terms for Multiple Endocrine Neoplasia, Type I

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

(show all 14)

#	Name	GO ID	Score	Top Affiliating Genes
1	negative regulation of cell population proliferation	GO:0008285	10.17	SST MEN1 CDKN2C CDKN2B CDKN1B CDKN1A
2	cellular response to hypoxia	GO:0071456	10.11	SDHD JUND CDKN1B CASR
3	cellular senescence	GO:0090398	10.01	CDKN2B CDKN1B CDKN1A
4	negative regulation of G1/S transition of mitotic cell cycle	GO:2000134	10	CDKN2B CDKN1A CDC73
5	phosphorylation	GO:0016310	9.97	CDKN1A CDKN1B CDKN2B CDKN2C PRKAR1A RET
6	negative regulation of epithelial cell proliferation	GO:0050680	9.95	MEN1 CDKN2B CDKN1B CDC73
7	response to organic cyclic compound	GO:0014070	9.93	JUND CDKN2B CDKN1B CASR
8	regulation of cyclin-dependent protein serine/threonine kinase activity	GO:0000079	9.86	CDKN1A CDKN1B CDKN2B CDKN2C
9	negative regulation of cyclin-dependent protein kinase activity	GO:1904030	9.78	CDKN1B CDKN1A
10	negative regulation of cell cycle G1/S phase transition	GO:1902807	9.77	CDKN1B CDKN2B MEN1
11	regulation of G1/S transition of mitotic cell cycle	GO:2000045	9.76	CDKN1A CDKN1B CDKN2B CDKN2C
12	negative regulation of cardiac muscle tissue regeneration	GO:1905179	9.73	CDKN1B CDKN1A
13	negative regulation of phosphorylation	GO:0042326	9.56	CDKN2C CDKN2B CDKN1B CDKN1A
14	negative regulation of cyclin-dependent protein serine/threonine kinase activity	GO:0045736	9.32	MEN1 CDKN2C CDKN2B CDKN1B CDKN1A

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

#	Name	GO ID	Score	Top Affiliating Genes
1	hormone activity	GO:0005179	9.76	SST SCT PRL GAST
2	kinase activity	GO:0016301	9.43	RET PRKAR1A CDKN2C CDKN2B CDKN1B CDKN1A
3	cyclin-dependent protein serine/threonine kinase inhibitor activity	GO:0004861	9.23	CDKN2C CDKN2B CDKN1B CDKN1A