MCID: MLT025
MIFTS: 34

Multiple Endocrine Neoplasia Iib malady

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

Aliases & Classifications for Multiple Endocrine Neoplasia Iib

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Sources:
46OMIM, 8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 20GeneTests, 48Orphanet, 22GTR, 61UMLS, 33MeSH, 56SNOMED-CT, 39NCIt, 34MESH via Orphanet, 26ICD10 via Orphanet, 62UMLS via Orphanet
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Aliases & Descriptions for Multiple Endocrine Neoplasia Iib:

Name: Multiple Endocrine Neoplasia Iib 46 9
Multiple Endocrine Neoplasia Type 2b 8 42 20 48 22 61
Wagenmann-Froboese Syndrome 8 42 48
Men2b 8 42 48
Multiple Endocrine Neoplasia, Type 3 8 42
 
Multiple Endocrine Neoplasia Type 3 42 48
Mucosal Neuroma Syndrome 8 42
Multiple Endocrine Neoplasia, Type Iib 46
Men Type Iib 8
Men 2b 42


Classifications:



Characteristics (Orphanet epidemiological data):

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


External Ids:

OMIM46 162300
Disease Ontology8 DOID:10016
NCIt39 C3227
SNOMED-CT56 61530001
Orphanet48 247709
MESH via Orphanet34 D018814
ICD10 via Orphanet26 D44.8
UMLS via Orphanet62 C0025269

Summaries for Multiple Endocrine Neoplasia Iib

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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: Multiple Endocrine Neoplasia Iib, also known as multiple endocrine neoplasia type 2b, is related to thyroiditis and neuroma, and has symptoms including autosomal dominant inheritance, thick lower lip vermilion and high palate. An important gene associated with Multiple Endocrine Neoplasia Iib is RET (ret proto-oncogene). Affiliated tissues include thyroid, colon and skin.

Disease Ontology:8 An autosomal dominant disease characterized by medullary thyroid carcinoma, pheochromocytoma, multiple mucosal neuromas and intestinal ganglioneuromas, and often a marfanoid habitus and other skeletal abnormalities.

Related Diseases for Multiple Endocrine Neoplasia Iib

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Diseases in the Multiple Endocrine Neoplasia family:

Multiple Endocrine Neoplasia, Type Iv Multiple Endocrine Neoplasia Iia
multiple endocrine neoplasia iib Multiple Endocrine Neoplasia 1

Diseases related to Multiple Endocrine Neoplasia Iib via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 22)
idRelated DiseaseScoreTop Affiliating Genes
1thyroiditis10.9
2neuroma10.8
3multiple mucosal neuroma10.5
4lichen nitidus10.4
5choroiditis10.4
6pulmonary edema10.4
7intestinal pseudo-obstruction10.4
8laryngitis10.4
9megacolon10.4
10melanoma10.4
11neuroendocrine tumor10.4
12prostatitis10.4
13dysautonomia10.4
14pheochromocytoma10.3
15multiple endocrine neoplasia10.3
16constipation10.1
17multiple endocrine neoplasia iia10.0
18multiple endocrine neoplasia 110.0
19axonal neuropathy10.0
20ganglioneuroma10.0
21neuropathy10.0
22thyroid cancer10.0

Graphical network of the top 20 diseases related to Multiple Endocrine Neoplasia Iib:



Diseases related to multiple endocrine neoplasia iib

Symptoms for Multiple Endocrine Neoplasia Iib

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Symptoms by clinical synopsis from OMIM:

162300

Clinical features from OMIM:

162300

HPO human phenotypes related to Multiple Endocrine Neoplasia Iib:

(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 Multiple Endocrine Neoplasia Iib

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Drug clinical trials:

Search ClinicalTrials for Multiple Endocrine Neoplasia Iib

Search NIH Clinical Center for Multiple Endocrine Neoplasia Iib

Genetic Tests for Multiple Endocrine Neoplasia Iib

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Genetic tests related to Multiple Endocrine Neoplasia Iib:

id Genetic test Affiliating Genes
1 Multiple Endocrine Neoplasia Type 2b20
2 Multiple Endocrine Neoplasia, Type 2b22

Anatomical Context for Multiple Endocrine Neoplasia Iib

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MalaCards organs/tissues related to Multiple Endocrine Neoplasia Iib:

31
Thyroid, Colon, Skin

Animal Models for Multiple Endocrine Neoplasia Iib or affiliated genes

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Publications for Multiple Endocrine Neoplasia Iib

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Articles related to Multiple Endocrine Neoplasia Iib:

idTitleAuthorsYear
1
Cutaneous metastasis of pheochromocytoma in multiple endocrine neoplasia IIB. (16844526)
2006

Variations for Multiple Endocrine Neoplasia Iib

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UniProtKB/Swiss-Prot genetic disease variations for Multiple Endocrine Neoplasia Iib:

63
id Symbol AA change Variation ID SNP ID
1RETp.Met918ThrVAR_006342rs74799832
2RETp.Thr946MetVAR_006345
3RETp.Ala883PheVAR_009485

Clinvar genetic disease variations for Multiple Endocrine Neoplasia Iib:

5
id Gene Variation 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 Multiple Endocrine Neoplasia Iib

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Search GEO for disease gene expression data for Multiple Endocrine Neoplasia Iib.

Pathways for genes affiliated with Multiple Endocrine Neoplasia Iib

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Compounds for genes affiliated with Multiple Endocrine Neoplasia Iib

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GO Terms for genes affiliated with Multiple Endocrine Neoplasia Iib

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Sources for Multiple Endocrine Neoplasia Iib

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet