MCID: MLT086
MIFTS: 21

Multiple Endocrine Neoplasia, Type Iv malady

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

Aliases & Classifications for Multiple Endocrine Neoplasia, Type Iv

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Sources:
46OMIM, 9diseasecard, 20GeneTests, 61UMLS, 48Orphanet, 22GTR, 26ICD10 via Orphanet
See all sources

Aliases & Descriptions for Multiple Endocrine Neoplasia, Type Iv:

Name: Multiple Endocrine Neoplasia, Type Iv 46 9 20 61
Multiple Endocrine Neoplasia Type 4 48 22
 
Men4 48


Classifications:



Characteristics (Orphanet epidemiological data):

48
multiple endocrine neoplasia type 4:
Inheritance: Autosomal dominant


External Ids:

OMIM46 610755
Orphanet48 276152
ICD10 via Orphanet26 D44.8

Summaries for Multiple Endocrine Neoplasia, Type Iv

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MalaCards based summary: Multiple Endocrine Neoplasia, Type Iv, also known as multiple endocrine neoplasia type 4, is related to multiple endocrine neoplasia and multiple endocrine neoplasia 1, and has symptoms including autosomal dominant inheritance, growth hormone excess and pituitary adenoma. An important gene associated with Multiple Endocrine Neoplasia, Type Iv is CDKN1B (cyclin-dependent kinase inhibitor 1B (p27, Kip1)). Affiliated tissues include pituitary.

Description from OMIM:46 610755

Related Diseases for Multiple Endocrine Neoplasia, Type Iv

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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, Type Iv via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1multiple endocrine neoplasia10.5
2multiple endocrine neoplasia 110.1

Symptoms for Multiple Endocrine Neoplasia, Type Iv

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Symptoms by clinical synopsis from OMIM:

610755

Clinical features from OMIM:

610755

HPO human phenotypes related to Multiple Endocrine Neoplasia, Type Iv:

id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 growth hormone excess HP:0000845
3 pituitary adenoma HP:0002893
4 renal angiomyolipoma HP:0006772

Drugs & Therapeutics for Multiple Endocrine Neoplasia, Type Iv

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Drug clinical trials:

Search ClinicalTrials for Multiple Endocrine Neoplasia, Type Iv

Search NIH Clinical Center for Multiple Endocrine Neoplasia, Type Iv

Genetic Tests for Multiple Endocrine Neoplasia, Type Iv

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Genetic tests related to Multiple Endocrine Neoplasia, Type Iv:

id Genetic test Affiliating Genes
1 Multiple Endocrine Neoplasia Type 420 CDKN1B
2 Multiple Endocrine Neoplasia, Type 422

Anatomical Context for Multiple Endocrine Neoplasia, Type Iv

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MalaCards organs/tissues related to Multiple Endocrine Neoplasia, Type Iv:

31
Pituitary

Animal Models for Multiple Endocrine Neoplasia, Type Iv or affiliated genes

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Publications for Multiple Endocrine Neoplasia, Type Iv

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Variations for Multiple Endocrine Neoplasia, Type Iv

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Clinvar genetic disease variations for Multiple Endocrine Neoplasia, Type Iv:

5
id Gene Variation Type Significance SNP ID Assembly Location
1CDKN1BNM_004064.4(CDKN1B): c.227G> A (p.Trp76Ter)single nucleotide variantPathogenicrs121917832GRCh37Chr 12, 12871000: 12871000

Expression for genes affiliated with Multiple Endocrine Neoplasia, Type Iv

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Search GEO for disease gene expression data for Multiple Endocrine Neoplasia, Type Iv.

Pathways for genes affiliated with Multiple Endocrine Neoplasia, Type Iv

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Compounds for genes affiliated with Multiple Endocrine Neoplasia, Type Iv

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GO Terms for genes affiliated with Multiple Endocrine Neoplasia, Type Iv

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Sources for Multiple Endocrine Neoplasia, Type Iv

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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