MCID: WGN001
MIFTS: 37

Wagenmann-Froboese Syndrome malady

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

Summaries for Wagenmann-Froboese Syndrome

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OMIM:46 Multiple endocrine neoplasia type IIB (MEN2B) is an autosomal dominant hamartoneoplastic syndrome characterized by... (162300) more...

MalaCards based summary: Wagenmann-Froboese Syndrome, also known as multiple endocrine neoplasia type 2b, is related to thyroiditis and familial medullary thyroid carcinoma, and has symptoms including autosomal dominant inheritance, thick lower lip vermilion and high palate. An important gene associated with Wagenmann-Froboese Syndrome is RET (ret proto-oncogene). Affiliated tissues include thyroid.

Aliases & Classifications for Wagenmann-Froboese Syndrome

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Sources:
9Disease Ontology, 10diseasecard, 42NIH Rare Diseases, 21GeneTests, 23GTR, 46OMIM, 48Orphanet, 61UMLS, 34MeSH, 39NCIt, 56SNOMED-CT, 35MESH via Orphanet, 27ICD10 via Orphanet, 62UMLS via Orphanet
See all sources

Wagenmann-Froboese Syndrome, Aliases & Descriptions:

Name: Wagenmann-Froboese Syndrome 9 42 48
Multiple Endocrine Neoplasia Type 2b 9 42 48 61
Multiple Endocrine Neoplasia Iib 10 21 23 46
Multiple Endocrine Neoplasia, Type 3 9 42
Mucosal Neuroma Syndrome 9 42
 
Men2b 9 48
Multiple Endocrine Neoplasia Type 3 48
Men Type Iib 9
Men 2b 42


Classifications:



Characteristics (Orphanet epidemiological data):

48
multiple endocrine neoplasia type 2b:
Inheritance: Autosomal dominant; Age of onset: Childhood


External Ids:

Disease Ontology9 DOID:10016
OMIM46 162300
NCIt39 C3227
SNOMED-CT56 61530001
MESH via Orphanet35 D018814
ICD10 via Orphanet27 D44.8
UMLS via Orphanet62 C0025269

Related Diseases for Wagenmann-Froboese Syndrome

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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 neuroma10.5
5neuroma10.4
6multiple endocrine neoplasia10.4
7diabetes mellitus10.4
8lichen nitidus10.4
9hirschsprung's disease10.4
10choroiditis10.4
11pulmonary edema10.4
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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Symptoms by clinical synopsis from OMIM:

162300

Clinical features from OMIM:

162300

HPO human phenotypes related to Wagenmann-Froboese Syndrome:

(show all 28)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 thick lower lip vermilion HP:0000179
3 high palate HP:0000218
4 thick eyebrow HP:0000574
5 pectus excavatum HP:0000767
6 abnormality of the skin HP:0000951
7 muscular hypotonia HP:0001252
8 global developmental delay HP:0001263
9 joint laxity HP:0001388
10 disproportionate tall stature HP:0001519
11 failure to thrive in infancy HP:0001531
12 pes cavus HP:0001761
13 diarrhea HP:0002014
14 constipation HP:0002019
15 aganglionic megacolon HP:0002251
16 colonic diverticulosis HP:0002253
17 scoliosis HP:0002650
18 pheochromocytoma HP:0002666
19 kyphosis HP:0002808
20 medullary thyroid carcinoma HP:0002865
21 ganglioneuroma HP:0003005
22 myopathy HP:0003198
23 hyperlordosis HP:0003307
24 elevated calcitonin HP:0003528
25 elevated urinary epinephrine HP:0003639
26 nodular goiter HP:0005994
27 proximal femoral epiphysiolysis HP:0006461
28 parathyroid hyperplasia HP:0008208

Drugs & Therapeutics for Wagenmann-Froboese Syndrome

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Drug clinical trials:

Search ClinicalTrials for Wagenmann-Froboese Syndrome

Search NIH Clinical Center for Wagenmann-Froboese Syndrome

Genetic Tests for Wagenmann-Froboese Syndrome

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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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MalaCards organs/tissues related to Wagenmann-Froboese Syndrome:

32
Thyroid

Animal Models for Wagenmann-Froboese Syndrome or affiliated genes

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Publications for Wagenmann-Froboese Syndrome

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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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UniProtKB/Swiss-Prot genetic disease variations for Wagenmann-Froboese Syndrome:

63
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:

7
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 variantPathogenicrs267607011GRCh37Chr 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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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
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet