MEN2
MCID: SPP002
MIFTS: 34

Sipple Syndrome (MEN2) malady

Genetic diseases, Rare diseases categories
Download this MalaCard

Summaries for Sipple Syndrome

About this section
Sources:
43NIH Rare Diseases, 65Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
See all sources

Fully expand this MalaCard
NIH Rare Diseases:43 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: Sipple Syndrome, also known as multiple endocrine neoplasia type 2, is related to familial medullary thyroid carcinoma and phaeochromocytoma. 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 (also known as \"Pheochromocytoma and amyloid producing medullary... more...

Description from OMIM:47 171400

GeneReviews summary for men2

Aliases & Classifications for Sipple Syndrome

About this section
Sources:
8Disease Ontology, 10DISEASES, 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 62UMLS, 47OMIM, 35MeSH
See all sources

Classifications:

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


Aliases & Descriptions:

sipple syndrome 8 10
multiple endocrine neoplasia type 2 19 43 20 22
multiple endocrine neoplasia type 2a 62
multiple endocrine neoplasia ii 8
multiple endocrine neoplasia 62
men 2 syndrome 19
men 2 19
men2 43


External Ids:

Disease Ontology8 DOID:0050430
OMIM47 171400
MeSH35 D018813

Related Diseases for Sipple Syndrome

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

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



Diseases related to sipple syndrome

Symptoms for Sipple Syndrome

About this section
Sources:
47OMIM
See all sources


Clinical features from OMIM:

171400

Drugs & Therapeutics for Sipple Syndrome

About this section
Sources:
42NIH Clinical Center, 6ClinicalTrials
See all sources

Drug clinical trials:

Search ClinicalTrials for Sipple Syndrome

Search NIH Clinical Center for Sipple Syndrome

Genetic Tests for Sipple Syndrome

About this section
Sources:
20GeneTests, 22GTR
See all sources

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

About this section
Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Sipple Syndrome:

33
Thyroid

Animal Models for Sipple Syndrome or affiliated genes

About this section

Publications for Sipple Syndrome

About this section
Sources:
52PubMed
See all sources

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

About this section
Sources:
1 National Center for Biotechnology Information (Clinvar)
See all sources

Clinvar genetic disease variations for Sipple Syndrome:

1 (show all 27)
id Gene Name Type Significance SNP ID Assembly Location
1RETNM_020975.4(RET): c.1852T> G (p.Cys618Gly)single nucleotide variantPathogenicrs76262710GRCh37Chr 10, 43609096: 43609096
2RETNM_020975.4(RET): c.1900T> C (p.Cys634Arg)single nucleotide variantPathogenicrs75076352GRCh37Chr 10, 43609948: 43609948
3RETNM_020975.4(RET): c.1900T> G (p.Cys634Gly)single nucleotide variantPathogenicrs75076352GRCh37Chr 10, 43609948: 43609948
4RETNM_020975.4(RET): c.1901G> A (p.Cys634Tyr)single nucleotide variantPathogenicrs75996173GRCh37Chr 10, 43609949: 43609949
5RETNM_020975.4(RET): c.1901G> C (p.Cys634Ser)single nucleotide variantPathogenicrs75996173GRCh37Chr 10, 43609949: 43609949
6RETNM_020975.4(RET): c.1901G> T (p.Cys634Phe)single nucleotide variantPathogenicrs75996173GRCh37Chr 10, 43609949: 43609949
7RETNM_020975.4(RET): c.1833C> G (p.Cys611Trp)single nucleotide variantPathogenicrs80069458GRCh37Chr 10, 43609077: 43609077
8RETNM_020975.4(RET): c.1853G> C (p.Cys618Ser)single nucleotide variantPathogenicrs79781594GRCh37Chr 10, 43609097: 43609097
9RETNM_020975.4(RET): c.1858T> C (p.Cys620Arg)single nucleotide variantPathogenicrs77316810GRCh37Chr 10, 43609102: 43609102
10RETNM_020975.4(RET): c.1859G> A (p.Cys620Tyr)single nucleotide variantPathogenicrs77503355GRCh37Chr 10, 43609103: 43609103
11RETNM_020975.4(RET): c.1900T> C (p.Cys634Arg)single nucleotide variantPathogenicrs75076352GRCh37Chr 10, 43609948: 43609948
12RETNM_020975.4(RET): c.1902C> G (p.Cys634Trp)single nucleotide variantPathogenicrs77709286GRCh37Chr 10, 43609950: 43609950
13RETNM_020975.4(RET): c.1859G> T (p.Cys620Phe)single nucleotide variantPathogenicrs77503355GRCh37Chr 10, 43609103: 43609103
14RETNM_020975.4(RET): c.1852T> C (p.Cys618Arg)single nucleotide variantPathogenicrs76262710GRCh37Chr 10, 43609096: 43609096
15RETNM_020975.4(RET): c.2370G> C (p.Leu790Phe)single nucleotide variantPathogenicrs75030001GRCh37Chr 10, 43613906: 43613906
16RETNM_020975.4(RET): c.2372A> T (p.Tyr791Phe)single nucleotide variantBenign, Likely benign, Pathogenicrs77724903GRCh37Chr 10, 43613908: 43613908
17RETNM_020975.4(RET): c.1919C> G (p.Ala640Gly)single nucleotide variantPathogenic, Uncertain significancers78935588GRCh37Chr 10, 43609967: 43609967
18RETNM_020975.4(RET): c.1942G> A (p.Val648Ile)single nucleotide variantLikely benign, Pathogenic, Uncertain significancers77711105GRCh37Chr 10, 43609990: 43609990
19RETNM_020975.4(RET): c.2671T> G (p.Ser891Ala)single nucleotide variantPathogenicrs75234356GRCh37Chr 10, 43615592: 43615592
20RETNM_020975.4(RET): c.874G> A (p.Val292Met)single nucleotide variantPathogenic, Uncertain significancers34682185GRCh37Chr 10, 43601830: 43601830
21RETNM_020975.4(RET): c.1825T> G (p.Cys609Gly)single nucleotide variantPathogenicrs77558292GRCh37Chr 10, 43609069: 43609069
22RETNM_020975.4(RET): c.1891_1893delGAC (p.Asp631del)deletionPathogenicrs377767435GRCh37Chr 10, 43609939: 43609941
23RETNM_020975.4(RET): c.1891G> T (p.Asp631Tyr)single nucleotide variantPathogenicrs377767406GRCh37Chr 10, 43609939: 43609939
24RETNM_020975.4(RET): c.1892_1903dupACGAGCTGTGCC (p.Cys634_Arg635insHisGluLeuCys)duplicationPathogenicrs377767436GRCh37Chr 10, 43609940: 43609951
25RETNM_020975.4(RET): c.1900_1908dupTGCCGCACG (p.Thr636_Val637insCysArgThr)duplicationPathogenicrs377767437GRCh37Chr 10, 43609948: 43609956
26RETNM_020975.4(RET): c.1826G> C (p.Cys609Ser)single nucleotide variantPathogenicrs77939446GRCh37Chr 10, 43609070: 43609070
27RETNM_020975.4(RET): c.1901_1902delGCinsTG (p.Cys634Leu)indelPathogenicrs377767409GRCh37Chr 10, 43609949: 43609950

Expression for genes affiliated with Sipple Syndrome

About this section
Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Sipple Syndrome

Search GEO for disease gene expression data for Sipple Syndrome.

Pathways for genes affiliated with Sipple Syndrome

About this section
Sources:
50PathCards, 55Reactome
See all sources

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

About this section

GO Terms for genes affiliated with Sipple Syndrome

About this section

Products for genes affiliated with Sipple Syndrome

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Sipple Syndrome

About this section
4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet