MCID: BMP001
MIFTS: 21

Bmpr1a-Related Juvenile Polyposis malady

Genetic diseases, Rare diseases, Gastrointestinal diseases, Cancer diseases categories
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Summaries for Bmpr1a-Related Juvenile Polyposis

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MalaCards based summary: Bmpr1a-Related Juvenile Polyposis is related to juvenile polyposis syndrome and telangiectasia, hereditary hemorrhagic, type 5. 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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Bmpr1a-Related Juvenile Polyposis, Aliases & Descriptions:

Name: Bmpr1a-Related Juvenile Polyposis 20 62


Classifications:



Related Diseases for Bmpr1a-Related Juvenile Polyposis

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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 syndrome9.9SMAD4, BMPR1A
2telangiectasia, hereditary hemorrhagic, type 59.9BMPR1A, SMAD4
3prostate cancer9.9SMAD4, BMPR1A
4cowden disease9.8SMAD4, BMPR1A
5pancreatic cancer9.8SMAD4, 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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Drug clinical trials:

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Search NIH Clinical Center for Bmpr1a-Related Juvenile Polyposis

Genetic Tests for Bmpr1a-Related Juvenile Polyposis

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Genetic tests related to Bmpr1a-Related Juvenile Polyposis:

id Genetic test Affiliating Genes
1 Bmpr1a-Related Juvenile Polyposis20 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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MGI Mouse Phenotypes related to Bmpr1a-Related Juvenile Polyposis:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053699.1BMPR1A, SMAD4
2MP:00020068.8BMPR1A, SMAD4

Publications for Bmpr1a-Related Juvenile Polyposis

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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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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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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 signaling37
BMP signalling and regulation37
BMP Signalling Pathway37
9.1BMPR1A, SMAD4
69.1BMPR1A, SMAD4

Compounds for genes affiliated with Bmpr1a-Related Juvenile Polyposis

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Sources:
44Novoseek
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Compounds related to Bmpr1a-Related Juvenile Polyposis according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1threonine449.1BMPR1A, SMAD4

GO Terms for genes affiliated with Bmpr1a-Related Juvenile Polyposis

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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:0603919.3BMPR1A, SMAD4
2positive regulation of pathway-restricted SMAD protein phosphorylationGO:0108629.3BMPR1A, SMAD4
3developmental growthGO:0485899.2BMPR1A, SMAD4
4BMP signaling pathwayGO:0305099.2BMPR1A, SMAD4
5palate developmentGO:0600219.1SMAD4, BMPR1A
6positive regulation of transcription, DNA-templatedGO:0458939.1BMPR1A, SMAD4
7transforming growth factor beta receptor signaling pathwayGO:0071799.0BMPR1A, SMAD4
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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  • Antibodies
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  • Lysates

Sources for Bmpr1a-Related Juvenile Polyposis

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet