MCID: GNR035
MIFTS: 34

Generalized Juvenile Polyposis/juvenile Polyposis Coli

Categories: Gastrointestinal diseases, Rare diseases

Aliases & Classifications for Generalized Juvenile Polyposis/juvenile Polyposis Coli

MalaCards integrated aliases for Generalized Juvenile Polyposis/juvenile Polyposis Coli:

Name: Generalized Juvenile Polyposis/juvenile Polyposis Coli 58

Characteristics:

Orphanet epidemiological data:

58
generalized juvenile polyposis/juvenile polyposis coli
Inheritance: Autosomal dominant; Age of onset: All ages;

Classifications:

Orphanet: 58  
Rare gastroenterological diseases


Summaries for Generalized Juvenile Polyposis/juvenile Polyposis Coli

MalaCards based summary : Generalized Juvenile Polyposis/juvenile Polyposis Coli is related to pulmonary arterial hypertension associated with congenital heart disease and hereditary hemorrhagic telangiectasia. An important gene associated with Generalized Juvenile Polyposis/juvenile Polyposis Coli is BMPR1A (Bone Morphogenetic Protein Receptor Type 1A), and among its related pathways/superpathways are Mesodermal Commitment Pathway and Human Embryonic Stem Cell Pluripotency. Affiliated tissues include colon and small intestine, and related phenotypes are anemia and adenomatous colonic polyposis

Related Diseases for Generalized Juvenile Polyposis/juvenile Polyposis Coli

Graphical network of the top 20 diseases related to Generalized Juvenile Polyposis/juvenile Polyposis Coli:



Diseases related to Generalized Juvenile Polyposis/juvenile Polyposis Coli

Symptoms & Phenotypes for Generalized Juvenile Polyposis/juvenile Polyposis Coli

Human phenotypes related to Generalized Juvenile Polyposis/juvenile Polyposis Coli:

58 31 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 anemia 58 31 frequent (33%) Frequent (79-30%) HP:0001903
2 adenomatous colonic polyposis 58 31 frequent (33%) Frequent (79-30%) HP:0005227
3 hematochezia 58 31 frequent (33%) Frequent (79-30%) HP:0002573
4 rectal polyposis 58 31 frequent (33%) Frequent (79-30%) HP:0100896
5 anemic pallor 58 31 frequent (33%) Frequent (79-30%) HP:0001017
6 edema 58 31 occasional (7.5%) Occasional (29-5%) HP:0000969
7 growth delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0001510
8 multiple gastric polyps 58 31 occasional (7.5%) Occasional (29-5%) HP:0004394
9 duodenal polyposis 58 31 very rare (1%) Very rare (<4-1%) HP:0004783
10 abnormal bleeding 58 Very frequent (99-80%)
11 small intestinal polyposis 58 Very rare (<4-1%)

MGI Mouse Phenotypes related to Generalized Juvenile Polyposis/juvenile Polyposis Coli:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.33 BMPR1A ENG SMAD4
2 digestive/alimentary MP:0005381 9.13 BMPR1A ENG SMAD4
3 muscle MP:0005369 8.8 BMPR1A ENG SMAD4

Drugs & Therapeutics for Generalized Juvenile Polyposis/juvenile Polyposis Coli

Search Clinical Trials , NIH Clinical Center for Generalized Juvenile Polyposis/juvenile Polyposis Coli

Genetic Tests for Generalized Juvenile Polyposis/juvenile Polyposis Coli

Anatomical Context for Generalized Juvenile Polyposis/juvenile Polyposis Coli

MalaCards organs/tissues related to Generalized Juvenile Polyposis/juvenile Polyposis Coli:

40
Colon, Small Intestine

Publications for Generalized Juvenile Polyposis/juvenile Polyposis Coli

Variations for Generalized Juvenile Polyposis/juvenile Polyposis Coli

ClinVar genetic disease variations for Generalized Juvenile Polyposis/juvenile Polyposis Coli:

6 (show top 50) (show all 1243) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 BMPR1A NC_000010.11:g.(?_86838865)_(86900126_?)deldeletion Pathogenic 417562 10:88598622-88659883 10:86838865-86900126
2 BMPR1A NM_004329.2(BMPR1A):c.934del (p.His312fs)deletion Pathogenic 411641 rs1060503408 10:88678993-88678993 10:86919236-86919236
3 BMPR1A NM_004329.2(BMPR1A):c.947_948CT[1] (p.Leu317fs)short repeat Pathogenic 411642 rs1060503409 10:88679006-88679009 10:86919249-86919252
4 BMPR1A NM_004329.2(BMPR1A):c.213_228del (p.Ala71_Ile72insTer)deletion Pathogenic 411600 rs1064792985 10:88649960-88649975 10:86890203-86890218
5 BMPR1A NM_004329.2(BMPR1A):c.917_920dup (p.Ile308fs)duplication Pathogenic 411629 rs1554891032 10:88678975-88678976 10:86919218-86919219
6 SMAD4 NM_005359.6(SMAD4):c.1198del (p.Arg400fs)deletion Pathogenic 405491 rs1060500734 18:48593447-48593447 18:51067077-51067077
7 SMAD4 NM_005359.6(SMAD4):c.1529del (p.Gly510fs)deletion Pathogenic 405502 rs1060500744 18:48604704-48604704 18:51078334-51078334
8 SMAD4 NM_005359.5(SMAD4):c.263_267delAAGGA (p.Lys88Ilefs)deletion Pathogenic 405496 rs1060500739 18:48575066-48575070 18:51048696-51048700
9 SMAD4 NC_000018.10:g.(?_51067019)_(51085042_?)deldeletion Pathogenic 417583 18:48593389-48611412 18:51067019-51085042
10 SMAD4 NM_005359.6(SMAD4):c.728_735del (p.Gly243fs)deletion Pathogenic 405500 rs1060500742 18:48584551-48584558 18:51058181-51058188
11 SMAD4 NM_005359.6(SMAD4):c.1096C>T (p.Gln366Ter)SNV Pathogenic 405490 rs1060500733 18:48591933-48591933 18:51065563-51065563
12 BMPR1A NM_004329.2(BMPR1A):c.730C>T (p.Arg244Ter)SNV Pathogenic 421656 rs759363072 10:88676945-88676945 10:86917188-86917188
13 BMPR1A NM_004329.2(BMPR1A):c.441_458delinsGA (p.Phe147fs)indel Pathogenic 429100 rs1131691179 10:88659794-88659811 10:86900037-86900054
14 BMPR1A NM_004329.2(BMPR1A):c.578dup (p.Leu193fs)duplication Pathogenic 460506 rs1554890219 10:88672041-88672042 10:86912284-86912285
15 BMPR1A NM_004329.2(BMPR1A):c.834C>A (p.Tyr278Ter)SNV Pathogenic 460512 rs1230919713 10:88677049-88677049 10:86917292-86917292
16 BMPR1A NM_004329.2(BMPR1A):c.567C>A (p.Tyr189Ter)SNV Pathogenic 460505 rs1554890213 10:88672033-88672033 10:86912276-86912276
17 BMPR1A NM_004329.2(BMPR1A):c.957dup (p.Phe320fs)duplication Pathogenic 460517 rs1554891043 10:88679016-88679017 10:86919259-86919260
18 SMAD4 NC_000018.9:g.(?_48573411)_(48604843_?)deldeletion Pathogenic 460460 18:48573411-48604843
19 SMAD4 NM_005359.6(SMAD4):c.461C>G (p.Ser154Ter)SNV Pathogenic 460552 rs1555685624 18:48581157-48581157 18:51054787-51054787
20 SMAD4 NM_005359.6(SMAD4):c.1166_1167del (p.Gln388_Leu389insTer)deletion Pathogenic 460529 rs1555686600 18:48593415-48593416 18:51067045-51067046
21 SMAD4 NM_005359.6(SMAD4):c.1138del (p.Arg380fs)deletion Pathogenic 460526 rs1555686506 18:48591974-48591974 18:51065604-51065604
22 SMAD4 NM_005359.6(SMAD4):c.1228_1229del (p.Gln410fs)deletion Pathogenic 460532 rs1555686608 18:48593476-48593477 18:51067106-51067107
23 SMAD4 NC_000018.10:g.(?_51065417)_(51067193_?)deldeletion Pathogenic 460469 18:51065417-51067193
24 BMPR1A NM_004329.2(BMPR1A):c.1360C>T (p.Gln454Ter)SNV Pathogenic 486794 rs1554891570 10:88683150-88683150 10:86923393-86923393
25 SMAD4 NM_005359.6(SMAD4):c.1023del (p.Pro342fs)deletion Pathogenic 486447 rs1555686469 18:48591859-48591859 18:51065489-51065489
26 BMPR1A NM_004329.2(BMPR1A):c.44_47del (p.Leu15fs)deletion Pathogenic 529908 rs1554886816 10:88635817-88635820 10:86876060-86876063
27 BMPR1A NM_004329.2(BMPR1A):c.731dup (p.Tyr245fs)duplication Pathogenic 529921 rs1554890759 10:88676945-88676946 10:86917188-86917189
28 BMPR1A NM_004329.2(BMPR1A):c.910C>T (p.Gln304Ter)SNV Pathogenic 529903 rs1404557708 10:88678970-88678970 10:86919213-86919213
29 BMPR1A NM_004329.2(BMPR1A):c.366_384del (p.Glu123fs)deletion Pathogenic 529927 rs1554888970 10:88659579-88659597 10:86899822-86899840
30 BMPR1A NM_004329.2(BMPR1A):c.419del (p.Pro140fs)deletion Pathogenic 529904 rs1554888986 10:88659632-88659632 10:86899875-86899875
31 BMPR1A NM_004329.2(BMPR1A):c.864dup (p.Leu289fs)duplication Pathogenic 529920 rs1554890815 10:88677078-88677079 10:86917321-86917322
32 SMAD4 NM_005359.6(SMAD4):c.1324C>T (p.Gln442Ter)SNV Pathogenic 529907 rs1555687378 18:48603023-48603023 18:51076653-51076653
33 SMAD4 NM_005359.6(SMAD4):c.1407_1410dup (p.Gly471fs)duplication Pathogenic 529945 rs1555687386 18:48603104-48603105 18:51076734-51076735
34 SMAD4 NM_005359.6(SMAD4):c.1409del (p.Pro470fs)deletion Pathogenic 529954 rs1555687387 18:48603106-48603106 18:51076736-51076736
35 SMAD4 NM_005359.5(SMAD4):c.1134_1135delAG (p.Arg378Serfs)short repeat Pathogenic 545822 rs1555686503 18:48591966-48591967 18:51065596-51065597
36 SMAD4 NM_005359.6(SMAD4):c.1308+2T>CSNV Pathogenic 548563 rs1555686624 18:48593559-48593559 18:51067189-51067189
37 BMPR1A NM_004329.2(BMPR1A):c.-547_-268+1deldeletion Pathogenic 571700 rs1564673999 10:88516395-88516675 10:86756638-86756918
38 BMPR1A NM_004329.2(BMPR1A):c.133_134del (p.Glu45fs)deletion Pathogenic 581321 rs1564714804 10:88649883-88649884 10:86890126-86890127
39 deletion Pathogenic 559459
40 BMPR1A NM_004329.2(BMPR1A):c.1314G>A (p.Trp438Ter)SNV Pathogenic 569831 rs1564725052 10:88681424-88681424 10:86921667-86921667
41 subset of 15 genes: BMPR1A , PTEN NC_000010.10:g.(?_88649809)_(89725239_?)deldeletion Pathogenic 583733 10:88649809-89725239
42 BMPR1A NM_004329.2(BMPR1A):c.139G>T (p.Gly47Ter)SNV Pathogenic 567654 rs1564714809 10:88649890-88649890 10:86890133-86890133
43 BMPR1A NM_004329.2(BMPR1A):c.566dup (p.Tyr189Ter)duplication Pathogenic 571137 rs1564721929 10:88672031-88672032 10:86912274-86912275
44 BMPR1A NM_004329.2(BMPR1A):c.847dup (p.Met283fs)duplication Pathogenic 566699 rs1564723486 10:88677060-88677061 10:86917303-86917304
45 BMPR1A NM_004329.2(BMPR1A):c.1374C>A (p.Tyr458Ter)SNV Pathogenic 578684 rs1564725603 10:88683164-88683164 10:86923407-86923407
46 BMPR1A NC_000010.11:g.(?_86912230)_(86917336_?)deldeletion Pathogenic 584294 10:88671987-88677093 10:86912230-86917336
47 BMPR1A NM_004329.2(BMPR1A):c.674del (p.Leu225fs)deletion Pathogenic 572096 rs1564722014 10:88672139-88672139 10:86912382-86912382
48 SMAD4 NC_000018.10:g.(?_51030213)_(51078477_?)deldeletion Pathogenic 583710 18:48556583-48604847 18:51030213-51078477
49 SMAD4 NM_005359.6(SMAD4):c.1343_1367del (p.Gln448fs)deletion Pathogenic 572588 rs1568211187 18:48603040-48603064 18:51076670-51076694
50 SMAD4 NM_005359.6(SMAD4):c.939dup (p.Ile314fs)duplication Pathogenic 576856 rs1568206602 18:48586267-48586268 18:51059897-51059898

Expression for Generalized Juvenile Polyposis/juvenile Polyposis Coli

Search GEO for disease gene expression data for Generalized Juvenile Polyposis/juvenile Polyposis Coli.

Pathways for Generalized Juvenile Polyposis/juvenile Polyposis Coli

Pathways related to Generalized Juvenile Polyposis/juvenile Polyposis Coli according to GeneCards Suite gene sharing:

(show all 16)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.04 SMAD4 BMPR1A
2
Show member pathways
11.99 SMAD4 BMPR1A
3 11.8 SMAD4 ENG
4 11.72 SMAD4 BMPR1A
5 11.7 SMAD4 BMPR1A
6 11.65 SMAD4 BMPR1A
7 11.63 SMAD4 BMPR1A
8 11.44 SMAD4 ENG
9 11.41 SMAD4 BMPR1A
10
Show member pathways
11.29 SMAD4 BMPR1A
11
Show member pathways
11.23 SMAD4 BMPR1A
12 11.13 SMAD4 ENG
13 11.02 SMAD4 ENG
14 10.82 SMAD4 BMPR1A
15 10.35 SMAD4 ENG
16 9.97 SMAD4 BMPR1A

GO Terms for Generalized Juvenile Polyposis/juvenile Polyposis Coli

Cellular components related to Generalized Juvenile Polyposis/juvenile Polyposis Coli according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 receptor complex GO:0043235 8.62 ENG BMPR1A

Biological processes related to Generalized Juvenile Polyposis/juvenile Polyposis Coli according to GeneCards Suite gene sharing:

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 9.77 SMAD4 ENG BMPR1A
2 heart development GO:0007507 9.61 ENG BMPR1A
3 in utero embryonic development GO:0001701 9.6 SMAD4 BMPR1A
4 anterior/posterior pattern specification GO:0009952 9.58 SMAD4 BMPR1A
5 embryonic digit morphogenesis GO:0042733 9.58 SMAD4 BMPR1A
6 cellular response to BMP stimulus GO:0071773 9.57 SMAD4 BMPR1A
7 positive regulation of BMP signaling pathway GO:0030513 9.56 SMAD4 ENG
8 endoderm development GO:0007492 9.55 SMAD4 BMPR1A
9 developmental growth GO:0048589 9.54 SMAD4 BMPR1A
10 regulation of transforming growth factor beta receptor signaling pathway GO:0017015 9.52 SMAD4 ENG
11 endocardial cushion morphogenesis GO:0003203 9.51 ENG BMPR1A
12 transforming growth factor beta receptor signaling pathway GO:0007179 9.5 SMAD4 ENG BMPR1A
13 ventricular trabecula myocardium morphogenesis GO:0003222 9.49 ENG BMPR1A
14 positive regulation of SMAD protein signal transduction GO:0060391 9.48 SMAD4 BMPR1A
15 epithelial to mesenchymal transition involved in endocardial cushion formation GO:0003198 9.46 SMAD4 ENG
16 response to transforming growth factor beta GO:0071559 9.43 SMAD4 ENG
17 BMP signaling pathway GO:0030509 9.43 SMAD4 ENG BMPR1A
18 mesendoderm development GO:0048382 9.4 SMAD4 BMPR1A
19 dorsal aorta morphogenesis GO:0035912 9.37 ENG BMPR1A
20 regulation of cardiac muscle cell apoptotic process GO:0010665 9.16 ENG BMPR1A
21 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.13 SMAD4 ENG BMPR1A
22 outflow tract septum morphogenesis GO:0003148 8.8 SMAD4 ENG BMPR1A

Molecular functions related to Generalized Juvenile Polyposis/juvenile Polyposis Coli according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein homodimerization activity GO:0042803 8.8 SMAD4 ENG BMPR1A

Sources for Generalized Juvenile Polyposis/juvenile Polyposis Coli

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....