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 telangiectasis. 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, heart 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%)

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

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

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.13 BMPR1A ENG SMAD4
2 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, Heart, Small Intestine, Skin

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:

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# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SMAD4 NM_005359.5(SMAD4):c.1547dupA (p.Ser517Glufs)duplication Pathogenic 156513 rs587783060 18:48604724-48604725 18:51078354-51078355
2 SMAD4 NM_005359.5(SMAD4):c.(?_-1)_(*1_?)deldeletion Pathogenic 216092
3 BMPR1A NM_004329.2(BMPR1A):c.176del (p.Phe58_Leu59insTer)deletion Pathogenic 183711 rs786201038 10:88649922-88649922 10:86890165-86890165
4 BMPR1A NM_004329.2(BMPR1A):c.1081C>T (p.Arg361Ter)SNV Pathogenic 183728 rs764466442 10:88679141-88679141 10:86919384-86919384
5 SMAD4 NM_005359.5(SMAD4):c.153dupA (p.Asp52Argfs)duplication Pathogenic 187217 rs786203560 18:48573563-48573564 18:51047193-51047194
6 BMPR1A NM_004329.2(BMPR1A):c.247_251del (p.Phe83fs)deletion Pathogenic 188270 rs786204187 10:88651896-88651900 10:86892139-86892143
7 SMAD4 NM_005359.5(SMAD4):c.1353_1354insGCTACTGCACAAGCTGCAGCAGCTGCCC (p.Gln461Argfs)duplication Pathogenic 188177 rs786204125 18:48603052-48603053 18:51076682-51076683
8 SMAD4 NM_005359.5(SMAD4):c.1142T>A (p.Leu381Ter)SNV Pathogenic 216093 rs863224507 18:48593391-48593391 18:51067021-51067021
9 BMPR1A NM_004329.2(BMPR1A):c.405dup (p.Pro136fs)duplication Pathogenic 233491 rs876660442 10:88659620-88659621 10:86899863-86899864
10 BMPR1A BMPR1A, 4-BP DEL, 44TGTTdeletion Pathogenic 8229
11 BMPR1A NM_004329.2(BMPR1A):c.715C>T (p.Gln239Ter)SNV Pathogenic 8230 rs199476084 10:88676930-88676930 10:86917173-86917173
12 BMPR1A NM_004329.2(BMPR1A):c.812G>A (p.Trp271Ter)SNV Pathogenic 8231 rs199476085 10:88677027-88677027 10:86917270-86917270
13 BMPR1A BMPR1A, 1-BP DEL, 961Cdeletion Pathogenic 8232
14 SMAD4 SMAD4, 4-BP DEL, NT1372deletion Pathogenic 8540
15 SMAD4 SMAD4, 2-BP DELdeletion Pathogenic 8541
16 SMAD4 SMAD4, 1-BP INSinsertion Pathogenic 8542
17 SMAD4 NM_005359.5(SMAD4):c.1081C>T (p.Arg361Cys)SNV Pathogenic 8543 rs80338963 18:48591918-48591918 18:51065548-51065548
18 SMAD4 SMAD4, 2-BP DEL, 959ACdeletion Pathogenic 8544
19 SMAD4 NM_005359.5(SMAD4):c.1162C>T (p.Gln388Ter)SNV Pathogenic 24842 rs80338964 18:48593411-48593411 18:51067041-51067041
20 SMAD4 NM_005359.5(SMAD4):c.(?_-17093)_(1659_?)deldeletion Pathogenic 24795 18:48540028-48604837 18:51013658-51078467
21 SMAD4 NM_005359.5(SMAD4):c.430_431delTC (p.Ser144Argfs)short repeat Pathogenic 24804 rs377767328 18:48575666-48575667 18:51049296-51049297
22 SMAD4 NM_005359.5(SMAD4):c.437T>A (p.Leu146Ter)SNV Pathogenic 24805 rs377767329 18:48575677-48575677 18:51049307-51049307
23 SMAD4 NM_005359.5(SMAD4):c.516_527del (p.Ser173_Gly176del)deletion Pathogenic 24806 rs377767330 18:48581212-48581223 18:51054842-51054853
24 SMAD4 NM_005359.5(SMAD4):c.533C>G (p.Ser178Ter)SNV Pathogenic 24807 rs377767331 18:48581229-48581229 18:51054859-51054859
25 SMAD4 NM_005359.5(SMAD4):c.538C>T (p.Gln180Ter)SNV Pathogenic 24808 rs377767332 18:48581234-48581234 18:51054864-51054864
26 SMAD4 NM_005359.5(SMAD4):c.608delC (p.Pro203Hisfs)deletion Pathogenic 24809 rs377767333 18:48581301-48581301 18:51054931-51054931
27 SMAD4 NM_005359.5(SMAD4):c.668-?_1659+?deldeletion Pathogenic 24810 18:48584495-48604837
28 SMAD4 NM_005359.5(SMAD4):c.692dupG (p.Ser232Glnfs)duplication Pathogenic 24811 rs377767334 18:48584513-48584514 18:51058143-51058144
29 SMAD4 NM_005359.5(SMAD4):c.731_732insGCCC(p.Gln245Profs)insertion Pathogenic 24813 rs377767335 18:48584558-48584559 18:51058186-51058187
30 SMAD4 NM_005359.5(SMAD4):c.788-?_1659+?deldeletion Pathogenic 24814 18:48584710-48604837
31 SMAD4 NM_005359.5(SMAD4):c.831_832delAC (p.Pro278Terfs)short repeat Pathogenic 24816 rs377767336 18:48584749-48584750 18:51058379-51058380
32 SMAD4 NM_005359.5(SMAD4):c.373_374insAT (p.Ser125Asnfs)insertion Pathogenic 24800 rs377767324 18:48575179-48575180 18:51048809-51048810
33 SMAD4 NM_005359.5(SMAD4):c.375_381dup (p.Val128Cysfs)duplication Pathogenic 24801 rs377767325 18:48575180-48575181 18:51048810-51048811
34 SMAD4 NM_005359.5(SMAD4):c.403C>T (p.Arg135Ter)SNV Pathogenic 24802 rs377767326 18:48575209-48575209 18:51048839-51048839
35 BMPR1A NM_004329.2(BMPR1A):c.1127G>A (p.Cys376Tyr)SNV Pathogenic 8235 rs199476088 10:88679187-88679187 10:86919430-86919430
36 SMAD4 NM_005359.5(SMAD4):c.925_928dupGCAT (p.Phe310Cysfs)duplication Pathogenic 24818 rs377767338 18:48586254-48586255 18:51059884-51059885
37 SMAD4 NM_005359.5(SMAD4):c.971delG (p.Cys324Phefs)deletion Pathogenic 24820 rs377767340 18:48591808-48591808 18:51065438-51065438
38 SMAD4 NM_005359.5(SMAD4):c.982_983insT (p.Tyr328Leufs)duplication Pathogenic 24821 rs377767341 18:48591817-48591818 18:51065447-51065448
39 SMAD4 NM_005359.5(SMAD4):c.1081C>A (p.Arg361Ser)SNV Pathogenic 24822 rs80338963 18:48591918-48591918 18:51065548-51065548
40 SMAD4 NM_005359.5(SMAD4):c.1037delC (p.Pro346Leufs)deletion Pathogenic 24825 rs377767343 18:48591872-48591872 18:51065502-51065502
41 SMAD4 NM_005359.5(SMAD4):c.1042_1043del (p.Val348Tyrfs)deletion Pathogenic 24826 rs377767344 18:48591878-48591879 18:51065508-51065509
42 SMAD4 NM_005359.5(SMAD4):c.1058A>C (p.Tyr353Ser)SNV Pathogenic 24829 rs377767346 18:48591895-48591895 18:51065525-51065525
43 SMAD4 NM_005359.5(SMAD4):c.1082G>A (p.Arg361His)SNV Pathogenic 24832 rs377767347 18:48591919-48591919 18:51065549-51065549
44 SMAD4 NM_005359.5(SMAD4):c.1087T>C (p.Cys363Arg)SNV Pathogenic 24834 rs377767348 18:48591924-48591924 18:51065554-51065554
45 SMAD4 NM_005359.5(SMAD4):c.1113delC (p.His371Glnfs)deletion Pathogenic 24838 rs377767352 18:48591950-48591950 18:51065580-51065580
46 SMAD4 NM_005359.5(SMAD4):c.1139+1G>ASNV Pathogenic 24839 rs377767354 18:48591977-48591977 18:51065607-51065607
47 SMAD4 NM_005359.5(SMAD4):c.1168G>A (p.Glu390Lys)SNV Pathogenic 24843 rs377767356 18:48593417-48593417 18:51067047-51067047
48 SMAD4 NM_005359.5(SMAD4):c.1193G>A (p.Trp398Ter)SNV Pathogenic 24844 rs377767357 18:48593442-48593442 18:51067072-51067072
49 SMAD4 NM_005359.5(SMAD4):c.1236C>G (p.Tyr412Ter)SNV Pathogenic 24845 rs121912577 18:48593485-48593485 18:51067115-51067115
50 SMAD4 NM_005359.5(SMAD4):c.1242delA (p.Asp415Thrfs)deletion Pathogenic 24847 rs377767358 18:48593491-48593491 18:51067121-51067121

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 11.71 SMAD4 BMPR1A
5 11.7 SMAD4 BMPR1A
6 11.65 SMAD4 BMPR1A
7 11.62 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 transforming growth factor beta receptor signaling pathway GO:0007179 9.58 SMAD4 BMPR1A
6 embryonic digit morphogenesis GO:0042733 9.57 SMAD4 BMPR1A
7 cellular response to BMP stimulus GO:0071773 9.56 SMAD4 BMPR1A
8 positive regulation of BMP signaling pathway GO:0030513 9.55 SMAD4 ENG
9 endoderm development GO:0007492 9.54 SMAD4 BMPR1A
10 developmental growth GO:0048589 9.52 SMAD4 BMPR1A
11 regulation of transforming growth factor beta receptor signaling pathway GO:0017015 9.51 SMAD4 ENG
12 endocardial cushion morphogenesis GO:0003203 9.49 ENG BMPR1A
13 ventricular trabecula myocardium morphogenesis GO:0003222 9.48 ENG BMPR1A
14 epithelial to mesenchymal transition involved in endocardial cushion formation GO:0003198 9.46 SMAD4 ENG
15 positive regulation of SMAD protein signal transduction GO:0060391 9.43 SMAD4 BMPR1A
16 BMP signaling pathway GO:0030509 9.43 SMAD4 ENG BMPR1A
17 response to transforming growth factor beta GO:0071559 9.4 SMAD4 ENG
18 mesendoderm development GO:0048382 9.37 SMAD4 BMPR1A
19 dorsal aorta morphogenesis GO:0035912 9.32 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
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43 MeSH
44 MESH via Orphanet
45 MGI
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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
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