MCID: BMP001
MIFTS: 19

Bmpr1a-Related Juvenile Polyposis malady

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

Summaries for Bmpr1a-Related Juvenile Polyposis

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MalaCards based summary: Bmpr1a-Related Juvenile Polyposis is related to polyposis, juvenile intestinal 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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Bmpr1a-Related Juvenile Polyposis, Aliases & Descriptions:

Name: Bmpr1a-Related Juvenile Polyposis 22 62


Classifications:



Related Diseases for Bmpr1a-Related Juvenile Polyposis

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Diseases in the Juvenile Polyposis of Infancy family:

Smad4-Related Juvenile Polyposis bmpr1a-related juvenile polyposis

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

idRelated DiseaseScoreTop Affiliating Genes
1polyposis, juvenile intestinal10.0BMPR1A, SMAD4
2hereditary hemorrhagic telangiectasia10.0BMPR1A, SMAD4
3prostate cancer10.0BMPR1A, SMAD4
4cowden disease10.0SMAD4, BMPR1A
5pancreatic cancer10.0BMPR1A, SMAD4

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:

Search ClinicalTrials for Bmpr1a-Related Juvenile Polyposis

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 Polyposis22 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:

37
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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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
29.1BMPR1A, SMAD4
39.1SMAD4, BMPR1A
4
Show member pathways
9.1BMPR1A, SMAD4
5
Show member pathways
BMP receptor signaling38
BMP signalling and regulation38
BMP Signalling Pathway38
9.1BMPR1A, SMAD4
69.1BMPR1A, SMAD4

Compounds for genes affiliated with Bmpr1a-Related Juvenile Polyposis

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Sources:
45Novoseek
See all sources

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

idCompoundScoreTop Affiliating Genes
1threonine459.1BMPR1A, 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:00603919.3BMPR1A, SMAD4
2positive regulation of pathway-restricted SMAD protein phosphorylationGO:00108629.3BMPR1A, SMAD4
3developmental growthGO:00485899.2BMPR1A, SMAD4
4BMP signaling pathwayGO:00305099.2BMPR1A, SMAD4
5palate developmentGO:00600219.1SMAD4, BMPR1A
6positive regulation of transcription, DNA-templatedGO:00458939.1BMPR1A, SMAD4
7transforming growth factor beta receptor signaling pathwayGO:00071799.0BMPR1A, SMAD4
8in utero embryonic developmentGO:00017018.8BMPR1A, SMAD4

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

idNameGO IDScoreTop Affiliating Genes
1protein homodimerization activityGO:00428039.1BMPR1A, SMAD4

Products for genes affiliated with Bmpr1a-Related Juvenile Polyposis

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  • Antibodies
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  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Bmpr1a-Related Juvenile Polyposis

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet