MEN2
MCID: SPP002
MIFTS: 35

Sipple Syndrome (MEN2) malady

Genetic diseases, Rare diseases categories
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Summaries for Sipple Syndrome

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NIH Rare Diseases:42 Multiple endocrine neoplasia, type 2 (men2) is an inherited disorder in which one or more of the endocrine glands are overactive or form a tumor. endocrine glands most commonly involved include: adrenal (about half the time) parathyroid (20% of the time) thyroid (almost all of the time) men2 is caused by a defect in the ret gene. this defect causes many tumors to appear in the same person, but not necessarily at the same time. the adrenal tumor is called a pheochromocytoma, and the thyroid tumor is a medullary carcinoma of the thyroid. the condition is usually inherited in an autosomal dominant pattern. men2 is divided into three subtypes: type 2a, type 2b, and familial medullary thyroid carcinoma (fmtc). these subtypes differ in their characteristic signs and symptoms and risk of specific tumors. the features of this disorder are relatively consistent within any one family. last updated: 8/25/2010

MalaCards based summary: Sipple Syndrome, also known as multiple endocrine neoplasia type 2, is related to parathyroid carcinoma and familial medullary thyroid carcinoma. An important gene associated with Sipple Syndrome is RET (ret proto-oncogene), and among its related pathways is Gene Expression. Affiliated tissues include thyroid.

Wikipedia:65 Multiple endocrine neoplasia type 2 (MEN2) (also known as \"Pheochromocytoma and amyloid producing... more...

Description from OMIM:46 171400

GeneReviews summary for men2

Aliases & Classifications for Sipple Syndrome

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Sipple Syndrome, Aliases & Descriptions:

Name: Sipple Syndrome 8 10
Multiple Endocrine Neoplasia Type 2 19 42 20 22
Multiple Endocrine Neoplasia Type 2a 62
Multiple Endocrine Neoplasia Ii 8
Multiple Endocrine Neoplasia 62
 
Men 2 Syndrome 19
Men 2a 62
Men2a 8
Men 2 19
Men2 42


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases


External Ids:

Disease Ontology8 DOID:0050430
OMIM46 171400
MeSH34 D018813

Related Diseases for Sipple Syndrome

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Graphical network of the top 20 diseases related to Sipple Syndrome:



Diseases related to sipple syndrome

Symptoms for Sipple Syndrome

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Clinical features from OMIM:

171400

Drugs & Therapeutics for Sipple Syndrome

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Drug clinical trials:

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Search NIH Clinical Center for Sipple Syndrome

Genetic Tests for Sipple Syndrome

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Genetic tests related to Sipple Syndrome:

id Genetic test Affiliating Genes
1 Multiple Endocrine Neoplasia Type 220 RET
2 Multiple Endocrine Neoplasia, Type 222

Anatomical Context for Sipple Syndrome

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MalaCards organs/tissues related to Sipple Syndrome:

32
Thyroid

Animal Models for Sipple Syndrome or affiliated genes

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Publications for Sipple Syndrome

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Articles related to Sipple Syndrome:

(show all 12)
idTitleAuthorsYear
1
Multiple endocrine neoplasia 2 (MEN 2)/MEN 2A (Sipple syndrome). (7712656)
1995
2
Sipple syndrome with lichen amyloidosis as a paracrinopathy. (1352941)
1992
3
An asymptomatic, normotensive sipple syndrome patient with glucose intolerance and hypercholesterolemia, and her kindred. (1678022)
1991
4
Sipple syndrome with lichen amyloidosis as a paracrinopathy: pleiotropy, heterogeneity, or a contiguous gene? (1686438)
1991
5
Sipple syndrome. (2564308)
1989
6
Coexistence of somatostatin-immunoreactivity in an adrenal pheochromocytoma and a thyroid medullary carcinoma (Sipple syndrome). (2900771)
1988
7
Gastrointestinal manifestations of Sipple syndrome in children. (2888844)
1987
8
Computed tomography of Sipple syndrome. (6140274)
1984
9
Sipple syndrome: marked variability of the disease within a family and implications for management. (7267504)
1981
10
Medullary thyroid carcinoma in Sipple syndrome. (41125)
1979
11
Sipple syndrome and pregnancy. (946212)
1976
12
Sipple syndrome and acute lymphoblastic leukemia. (1053660)
1975

Variations for Sipple Syndrome

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Clinvar genetic disease variations for Sipple Syndrome:

6
id Gene Name Type Significance SNP ID Assembly Location
1RETNM_020975.4(RET): c.1901G> A (p.Cys634Tyr)single nucleotide variantPathogenicrs75996173GRCh37Chr 10, 43609949: 43609949
2RETNM_020975.4(RET): c.1901G> T (p.Cys634Phe)single nucleotide variantPathogenicrs75996173GRCh37Chr 10, 43609949: 43609949
3RETNM_020975.4(RET): c.1919C> G (p.Ala640Gly)single nucleotide variantPathogenicrs78935588GRCh37Chr 10, 43609967: 43609967
4RETNM_020975.4(RET): c.1825T> G (p.Cys609Gly)single nucleotide variantPathogenicrs77558292GRCh37Chr 10, 43609069: 43609069
5RETNM_020975.4(RET): c.1891_1893delGAC (p.Asp631del)deletionPathogenicrs377767435GRCh37Chr 10, 43609939: 43609941
6RETNM_020975.4(RET): c.1891G> T (p.Asp631Tyr)single nucleotide variantPathogenicrs377767406GRCh37Chr 10, 43609939: 43609939
7RETNM_020975.4(RET): c.1892_1903dupACGAGCTGTGCC (p.Cys634_Arg635insHisGluLeuCys)duplicationPathogenicrs377767436GRCh37Chr 10, 43609940: 43609951
8RETNM_020975.4(RET): c.1900_1908dupTGCCGCACG (p.Thr636_Val637insCysArgThr)duplicationPathogenicrs377767437GRCh37Chr 10, 43609948: 43609956
9RETNM_020975.4(RET): c.1826G> C (p.Cys609Ser)single nucleotide variantPathogenicrs77939446GRCh37Chr 10, 43609070: 43609070
10RETNM_020975.4(RET): c.1901_1902delGCinsTG (p.Cys634Leu)indelPathogenicrs377767409GRCh37Chr 10, 43609949: 43609950

Expression for genes affiliated with Sipple Syndrome

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Expression patterns in normal tissues for genes affiliated with Sipple Syndrome

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Pathways for genes affiliated with Sipple Syndrome

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Pathways related to Sipple Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
8.5HNRNPA3, ZNF25, ZNF33A

Compounds for genes affiliated with Sipple Syndrome

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GO Terms for genes affiliated with Sipple Syndrome

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Products for genes affiliated with Sipple Syndrome

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  • Antibodies
  • Proteins
  • Lysates

Sources for Sipple Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet