MCID: WGN001
MIFTS: 33

Wagenmann-Froboese Syndrome malady

Genetic diseases, Rare diseases, Gastrointestinal diseases, Neuronal diseases, Endocrine diseases, Cancer diseases categories

Summaries for Wagenmann-Froboese Syndrome

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48OMIM, 34MalaCards
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MalaCards: Wagenmann-Froboese Syndrome, also known as multiple endocrine neoplasia type 2b, is related to thyroiditis and familial medullary thyroid carcinoma. An important gene associated with Wagenmann-Froboese Syndrome is RET (ret proto-oncogene). Affiliated tissues include thyroid.

Description from OMIM:48 162300

Aliases & Classifications for Wagenmann-Froboese Syndrome

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9Disease Ontology, 10diseasecard, 44NIH Rare Diseases, 21GeneTests, 23GTR, 48OMIM, 50Orphanet, 63UMLS, 59SNOMED-CT, 41NCIt, 36MeSH, 37MESH via Orphanet, 27ICD10 via Orphanet, 64UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
multiple endocrine neoplasia type 2b:
Inheritance: Autosomal dominant; Age of onset: Childhood


Aliases & Descriptions:

wagenmann-froboese syndrome 9 44 50
multiple endocrine neoplasia type 2b 9 44 50 63
multiple endocrine neoplasia iib 10 21 23 48
multiple endocrine neoplasia, type 3 9 44
mucosal neuroma syndrome 9 44
multiple endocrine neoplasia type 3 50
men type iib 9
men 2b 44
men2b 50


External Ids:

Disease Ontology9 DOID:10016
NCIt41 C3227
OMIM48 162300
SNOMED-CT59 61530001
MESH via Orphanet37 D018814
ICD10 via Orphanet27 D44.8
UMLS via Orphanet64 C0025269

Related Diseases for Wagenmann-Froboese Syndrome

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18GeneCards, 19GeneDecks
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Diseases related to Wagenmann-Froboese Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 25)
idRelated DiseaseScoreTop Affiliating Genes
1thyroiditis10.9
2familial medullary thyroid carcinoma10.6
3multiple endocrine neoplasia type 2a10.5
4multiple mucosal neuroma10.4
5neuroma10.4
6multiple endocrine neoplasia10.4
7lichen nitidus10.4
8hirschsprung's disease10.4
9choroiditis10.4
10pulmonary edema10.4
11diabetes mellitus10.4
12intestinal pseudo-obstruction10.4
13laryngitis10.4
14megacolon10.4
15melanoma10.4
16neuroendocrine tumor10.4
17prostatitis10.4
18dysautonomia10.4
19pheochromocytoma10.3
20constipation10.1
21axonal neuropathy10.0
22wermer syndrome10.0
23ganglioneuroma10.0
24neuropathy10.0
25thyroid cancer10.0

Graphical network of the top 20 diseases related to Wagenmann-Froboese Syndrome:



Diseases related to wagenmann-froboese syndrome

Symptoms for Wagenmann-Froboese Syndrome

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48OMIM
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Symptoms by clinical synopsis from OMIM:

162300

Clinical features from OMIM:

162300

Drugs & Therapeutics for Wagenmann-Froboese Syndrome

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search CenterWatch for Wagenmann-Froboese Syndrome

Genetic Tests for Wagenmann-Froboese Syndrome

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21GeneTests, 23GTR
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Genetic tests related to Wagenmann-Froboese Syndrome:

id Genetic test Affiliating Genes
1 Multiple Endocrine Neoplasia Type 2b21
2 Multiple Endocrine Neoplasia, Type 2b23

Anatomical Context for Wagenmann-Froboese Syndrome

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34MalaCards
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MalaCards organs/tissues related to Wagenmann-Froboese Syndrome:

34
Thyroid

Animal Models for Wagenmann-Froboese Syndrome or affiliated genes

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Publications for Wagenmann-Froboese Syndrome

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53PubMed
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Articles related to Wagenmann-Froboese Syndrome:

idTitleAuthorsYear
1
Multiple endocrine neoplasia type 2B (mucosal neuroma syndrome, Wagenmann-Froboese syndrome). (8880581)
1996

Variations for Wagenmann-Froboese Syndrome

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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Wagenmann-Froboese Syndrome:

65
id Symbol AA change Variation ID SNP ID
1RETp.Met918ThrVAR_006342rs74799832
2RETp.Thr946MetVAR_006345
3RETp.Ala883PheVAR_009485

Clinvar genetic disease variations for Wagenmann-Froboese Syndrome:

1
id Gene Name Type Significance SNP ID Assembly Location
1RETNM_020975.4(RET): c.2753T> C (p.Met918Thr)single nucleotide variantPathogenicrs74799832GRCh37Chr 10, 43617416: 43617416
2RETNM_020975.4(RET): c.2410G> A (p.Val804Met)single nucleotide variantPathogenicrs79658334GRCh37Chr 10, 43614996: 43614996
3RETNM_020975.4(RET): c.2711C> G (p.Ser904Cys)single nucleotide variantPathogenic, Uncertain significancers267607011GRCh37Chr 10, 43615632: 43615632
4RETNM_020975.4(RET): c.2410G> A (p.Val804Met)single nucleotide variantPathogenicrs79658334GRCh37Chr 10, 43614996: 43614996
5RETNM_020975.4(RET): c.2647_2648delGCinsTT (p.Ala883Phe)indelPathogenicrs377767429GRCh37Chr 10, 43615568: 43615569

Expression for genes affiliated with Wagenmann-Froboese Syndrome

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Wagenmann-Froboese Syndrome

Search GEO for disease gene expression data for Wagenmann-Froboese Syndrome.

Pathways for genes affiliated with Wagenmann-Froboese Syndrome

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Compounds for genes affiliated with Wagenmann-Froboese Syndrome

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GO Terms for genes affiliated with Wagenmann-Froboese Syndrome

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Products for genes affiliated with Wagenmann-Froboese Syndrome

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Sources for Wagenmann-Froboese Syndrome

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet