MCID: BMP001
MIFTS: 20

Bmpr1a-Related Juvenile Polyposis malady

Genetic diseases, Rare diseases, Gastrointestinal diseases, Cancer diseases categories

Summaries for Bmpr1a-Related Juvenile Polyposis

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34MalaCards
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MalaCards: Bmpr1a-Related Juvenile Polyposis is related to juvenile polyposis syndrome and hereditary hemorrhagic telangiectasia. An important gene associated with Bmpr1a-Related Juvenile Polyposis is BMPR1A (bone morphogenetic protein receptor, type IA), and among its related pathways are Integrated Breast Cancer Pathway and Hippo signaling pathway. The compound threonine have been mentioned in the context of this disorder. Related mouse phenotypes are muscle and tumorigenesis.

Aliases & Classifications for Bmpr1a-Related Juvenile Polyposis

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21GeneTests
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Classifications:



Aliases & Descriptions:

bmpr1a-related juvenile polyposis 21


Related Diseases for Bmpr1a-Related Juvenile Polyposis

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18GeneCards, 19GeneDecks
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Diseases in the Juvenile Polyposis Syndrome family:

Smad4-Related Juvenile Polyposis bmpr1a-related juvenile polyposis
Juvenile Polyposis of Infancy

Diseases related to Bmpr1a-Related Juvenile Polyposis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1juvenile polyposis syndrome10.0SMAD4, BMPR1A
2hereditary hemorrhagic telangiectasia10.0BMPR1A, SMAD4
3prostate cancer10.0SMAD4, BMPR1A
4cowden disease10.0SMAD4, BMPR1A
5pancreatic cancer9.9SMAD4, BMPR1A

Graphical network of diseases related to Bmpr1a-Related Juvenile Polyposis:



Diseases related to bmpr1a-related juvenile polyposis

Symptoms for Bmpr1a-Related Juvenile Polyposis

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Drugs & Therapeutics for Bmpr1a-Related Juvenile Polyposis

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

Search CenterWatch for Bmpr1a-Related Juvenile Polyposis

Drug clinical trials:

Search ClinicalTrials for Bmpr1a-Related Juvenile Polyposis

Search NIH Clinical Center for Bmpr1a-Related Juvenile Polyposis

Search CenterWatch for Bmpr1a-Related Juvenile Polyposis

Genetic Tests for Bmpr1a-Related Juvenile Polyposis

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21GeneTests
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Genetic tests related to Bmpr1a-Related Juvenile Polyposis:

id Genetic test Affiliating Genes
1 Bmpr1a-Related Juvenile Polyposis21 BMPR1A

Anatomical Context for Bmpr1a-Related Juvenile Polyposis

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Animal Models for Bmpr1a-Related Juvenile Polyposis or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Bmpr1a-Related Juvenile Polyposis:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053699.1BMPR1A, SMAD4
2MP:00020068.8BMPR1A, SMAD4

Publications for Bmpr1a-Related Juvenile Polyposis

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53PubMed
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Articles related to Bmpr1a-Related Juvenile Polyposis:

idTitleAuthorsYear
1
Vessels' morphology in SMAD4 and BMPR1A-related juvenile polyposis. (16152648)
2005

Variations for Bmpr1a-Related Juvenile Polyposis

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Expression for genes affiliated with Bmpr1a-Related Juvenile Polyposis

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Bmpr1a-Related Juvenile Polyposis

Search GEO for disease gene expression data for Bmpr1a-Related Juvenile Polyposis.

Pathways for genes affiliated with Bmpr1a-Related Juvenile Polyposis

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51PathCards, 39NCBI BioSystems Database, 31KEGG, 58SinoBiological, 56Reactome
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Pathways related to Bmpr1a-Related Juvenile Polyposis according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.1BMPR1A, SMAD4
29.1SMAD4, BMPR1A
39.1SMAD4, BMPR1A
4
Show member pathways
9.1BMPR1A, SMAD4
5
Show member pathways
BMP receptor signaling39
BMP signalling and regulation39
BMP Signalling Pathway39
9.1BMPR1A, SMAD4
69.1BMPR1A, SMAD4

Compounds for genes affiliated with Bmpr1a-Related Juvenile Polyposis

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46Novoseek
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Compounds related to Bmpr1a-Related Juvenile Polyposis according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1threonine469.1BMPR1A, SMAD4

GO Terms for genes affiliated with Bmpr1a-Related Juvenile Polyposis

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17Gene Ontology
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Biological processes related to Bmpr1a-Related Juvenile Polyposis according to GeneCards/GeneDecks:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of SMAD protein import into nucleusGO:0603919.3SMAD4, BMPR1A
2positive regulation of pathway-restricted SMAD protein phosphorylationGO:0108629.3BMPR1A, SMAD4
3developmental growthGO:0485899.2BMPR1A, SMAD4
4BMP signaling pathwayGO:0305099.2SMAD4, BMPR1A
5palate developmentGO:0600219.1SMAD4, BMPR1A
6positive regulation of transcription, DNA-templatedGO:0458939.1SMAD4, BMPR1A
7transforming growth factor beta receptor signaling pathwayGO:0071799.0SMAD4, BMPR1A
8in utero embryonic developmentGO:0017018.8BMPR1A, SMAD4

Molecular functions related to Bmpr1a-Related Juvenile Polyposis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein homodimerization activityGO:0428039.1BMPR1A, SMAD4

Products for genes affiliated with Bmpr1a-Related Juvenile Polyposis

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Sources for Bmpr1a-Related Juvenile Polyposis

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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