MCID: BMP001
MIFTS: 15

Bmpr1a-Related Juvenile Polyposis malady

Categories: Genetic diseases

Aliases & Classifications for Bmpr1a-Related Juvenile Polyposis

Aliases & Descriptions for Bmpr1a-Related Juvenile Polyposis:

Name: Bmpr1a-Related Juvenile Polyposis 24

Classifications:



Summaries for Bmpr1a-Related Juvenile Polyposis

MalaCards based summary : Bmpr1a-Related Juvenile Polyposis is related to c5orf42-related joubert syndrome and pierre robin syndrome and oligodactyly. An important gene associated with Bmpr1a-Related Juvenile Polyposis is BMPR1A (Bone Morphogenetic Protein Receptor Type 1A), and among its related pathways/superpathways are Mesodermal Commitment Pathway and DREAM Repression and Dynorphin Expression. Related phenotype is Increased mitotic index.

Related Diseases for Bmpr1a-Related Juvenile Polyposis

Diseases in the Bmpr1a-Related Juvenile Polyposis family:

Smad4-Related Juvenile Polyposis

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

id Related Disease Score Top Affiliating Genes
1 c5orf42-related joubert syndrome 9.9 BMPR1A SMAD4
2 pierre robin syndrome and oligodactyly 9.9 BMPR1A SMAD4
3 pseudoainhum 9.9 BMPR1A SMAD4
4 hypothalamic adipsic hypernatraemia syndrome 9.8 BMPR1A SMAD4
5 childhood teratocarcinoma of the testis 9.8 BMPR1A SMAD4
6 macrocephaly/autism syndrome 9.8 BMPR1A SMAD4
7 glomerulosclerosis, focal segmental, 7 9.7 BMPR1A SMAD4

Graphical network of the top 20 diseases related to Bmpr1a-Related Juvenile Polyposis:



Diseases related to Bmpr1a-Related Juvenile Polyposis

Symptoms & Phenotypes for Bmpr1a-Related Juvenile Polyposis

GenomeRNAi Phenotypes related to Bmpr1a-Related Juvenile Polyposis according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased mitotic index GR00110-A-0 8.62 BMPR1A SMAD4

Drugs & Therapeutics for Bmpr1a-Related Juvenile Polyposis

Search Clinical Trials , NIH Clinical Center for Bmpr1a-Related Juvenile Polyposis

Genetic Tests for Bmpr1a-Related Juvenile Polyposis

Genetic tests related to Bmpr1a-Related Juvenile Polyposis:

id Genetic test Affiliating Genes
1 Bmpr1a-Related Juvenile Polyposis 24 BMPR1A

Anatomical Context for Bmpr1a-Related Juvenile Polyposis

Publications for Bmpr1a-Related Juvenile Polyposis

Articles related to Bmpr1a-Related Juvenile Polyposis:

id Title Authors Year
1
Vessels' morphology in SMAD4 and BMPR1A-related juvenile polyposis. ( 16152648 )
2005

Variations for Bmpr1a-Related Juvenile Polyposis

Expression for Bmpr1a-Related Juvenile Polyposis

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

Pathways for Bmpr1a-Related Juvenile Polyposis

Pathways related to Bmpr1a-Related Juvenile Polyposis according to GeneCards Suite gene sharing:

(show all 12)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
11.99 BMPR1A SMAD4
2
Show member pathways
11.96 BMPR1A SMAD4
3
Show member pathways
11.92 BMPR1A SMAD4
4 11.64 BMPR1A SMAD4
5 11.62 BMPR1A SMAD4
6 11.56 BMPR1A SMAD4
7 11.51 BMPR1A SMAD4
8 11.25 BMPR1A SMAD4
9
Show member pathways
11.14 BMPR1A SMAD4
10
Show member pathways
11.01 BMPR1A SMAD4
11 10.62 BMPR1A SMAD4
12 9.97 BMPR1A SMAD4

GO Terms for Bmpr1a-Related Juvenile Polyposis

Biological processes related to Bmpr1a-Related Juvenile Polyposis according to GeneCards Suite gene sharing:

(show all 13)
id Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.52 BMPR1A SMAD4
2 in utero embryonic development GO:0001701 9.51 BMPR1A SMAD4
3 anterior/posterior pattern specification GO:0009952 9.49 BMPR1A SMAD4
4 transforming growth factor beta receptor signaling pathway GO:0007179 9.48 BMPR1A SMAD4
5 BMP signaling pathway GO:0030509 9.46 BMPR1A SMAD4
6 palate development GO:0060021 9.43 BMPR1A SMAD4
7 embryonic digit morphogenesis GO:0042733 9.4 BMPR1A SMAD4
8 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.37 BMPR1A SMAD4
9 cellular response to BMP stimulus GO:0071773 9.32 BMPR1A SMAD4
10 endoderm development GO:0007492 9.26 BMPR1A SMAD4
11 developmental growth GO:0048589 9.16 BMPR1A SMAD4
12 outflow tract septum morphogenesis GO:0003148 8.96 BMPR1A SMAD4
13 positive regulation of SMAD protein import into nucleus GO:0060391 8.62 BMPR1A SMAD4

Sources for Bmpr1a-Related Juvenile Polyposis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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