MCID: BMP001
MIFTS: 20

Bmpr1a-Related Juvenile Polyposis malady

Genetic diseases, Rare diseases, Gastrointestinal diseases, Cancer diseases categories
Download this MalaCard

Summaries for Bmpr1a-Related Juvenile Polyposis

About this section
Sources:
33MalaCards
See all sources

Fully expand this MalaCard
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

About this section
Sources:
20GeneTests
See all sources

Classifications:



Aliases & Descriptions:

bmpr1a-related juvenile polyposis 20


Related Diseases for Bmpr1a-Related Juvenile Polyposis

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

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

About this section

Drugs & Therapeutics for Bmpr1a-Related Juvenile Polyposis

About this section
Sources:
42NIH Clinical Center, 6ClinicalTrials
See all sources

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

About this section
Sources:
20GeneTests
See all sources

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

About this section

Animal Models for Bmpr1a-Related Juvenile Polyposis or affiliated genes

About this section
Sources:
37MGI
See all sources

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

About this section
Sources:
52PubMed
See all sources

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

About this section

Expression for genes affiliated with Bmpr1a-Related Juvenile Polyposis

About this section
Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

About this section
Sources:
50PathCards, 38NCBI BioSystems Database, 30KEGG, 57SinoBiological, 55Reactome
See all sources

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 signaling38
BMP signalling and regulation38
BMP Signalling Pathway38
9.1BMPR1A, SMAD4
69.1BMPR1A, SMAD4

Compounds for genes affiliated with Bmpr1a-Related Juvenile Polyposis

About this section
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

About this section
Sources:
16Gene Ontology
See all sources

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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Bmpr1a-Related Juvenile Polyposis

About this section
4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet