MCID: GNR035
MIFTS: 32

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 59

Characteristics:

Orphanet epidemiological data:

59
generalized juvenile polyposis/juvenile polyposis coli
Inheritance: Autosomal dominant; Age of onset: All ages;

Classifications:



External Ids:

ICD10 via Orphanet 34 D12.6
Orphanet 59 ORPHA329971

Summaries for Generalized Juvenile Polyposis/juvenile Polyposis Coli

MalaCards based summary : Generalized Juvenile Polyposis/juvenile Polyposis Coli is related to telangiectasis and congenital lipomatous overgrowth, vascular malformations, and epidermal nevi. 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 DREAM Repression and Dynorphin Expression and Mesodermal Commitment Pathway. 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

Diseases related to Generalized Juvenile Polyposis/juvenile Polyposis Coli via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 telangiectasis 9.6 SMAD4 ENG
2 congenital lipomatous overgrowth, vascular malformations, and epidermal nevi 9.6 SMAD4 ENG
3 familial colorectal cancer type x 9.5 SMAD4 BMPR1A
4 hereditary hemorrhagic telangiectasia 9.5 SMAD4 ENG
5 juvenile polyposis syndrome 9.4 SMAD4 BMPR1A
6 pulmonary hypertension 9.4 SMAD4 ENG
7 large intestine cancer 9.1 SMAD4 BMPR1A

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:

59 32 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 anemia 59 32 frequent (33%) Frequent (79-30%) HP:0001903
2 adenomatous colonic polyposis 59 32 frequent (33%) Frequent (79-30%) HP:0005227
3 hematochezia 59 32 frequent (33%) Frequent (79-30%) HP:0002573
4 rectal polyposis 59 32 frequent (33%) Frequent (79-30%) HP:0100896
5 anemic pallor 59 32 frequent (33%) Frequent (79-30%) HP:0001017
6 edema 59 32 occasional (7.5%) Occasional (29-5%) HP:0000969
7 growth delay 59 32 occasional (7.5%) Occasional (29-5%) HP:0001510
8 multiple gastric polyps 59 32 occasional (7.5%) Occasional (29-5%) HP:0004394
9 duodenal polyposis 59 32 very rare (1%) Very rare (<4-1%) HP:0004783
10 abnormal bleeding 59 Very frequent (99-80%)
11 small intestinal polyposis 59 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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.5 BMPR1A ENG SMAD4
2 embryo MP:0005380 9.43 BMPR1A ENG SMAD4
3 integument MP:0010771 9.33 BMPR1A ENG SMAD4
4 muscle MP:0005369 9.13 BMPR1A ENG SMAD4
5 normal MP:0002873 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:

41
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 889)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 BMPR1A NC_000010.10: g.(?_88598622)_(88659883_?)del deletion Pathogenic 10:88598622-88659883 10:86838865-86900126
2 BMPR1A NM_004329.2(BMPR1A): c.934del (p.His312fs) deletion Pathogenic rs1060503408 10:88678994-88678994 10:86919237-86919237
3 BMPR1A NM_004329.2(BMPR1A): c.947_948CT[1] (p.Leu317fs) short repeat Pathogenic rs1060503409 10:88679009-88679012 10:86919252-86919255
4 BMPR1A NM_004329.2(BMPR1A): c.213_228del (p.Ala71_Ile72insTer) deletion Pathogenic rs1064792985 10:88649964-88649979 10:86890207-86890222
5 BMPR1A NM_004329.2(BMPR1A): c.917_920dup (p.Ile308fs) duplication Pathogenic rs1554891032 10:88678977-88678980 10:86919220-86919223
6 SMAD4 NM_005359.5(SMAD4): c.1198delA (p.Arg400Glyfs) deletion Pathogenic rs1060500734 18:48593447-48593447 18:51067077-51067077
7 SMAD4 NM_005359.5(SMAD4): c.1529delG (p.Gly510Aspfs) deletion Pathogenic rs1060500744 18:48604707-48604707 18:51078337-51078337
8 SMAD4 NM_005359.5(SMAD4): c.263_267delAAGGA (p.Lys88Ilefs) deletion Pathogenic rs1060500739 18:48575069-48575073 18:51048699-51048703
9 SMAD4 NC_000018.9: g.(?_48593389)_(48611412_?)del deletion Pathogenic 18:48593389-48611412 18:51067019-51085042
10 SMAD4 NM_005359.5(SMAD4): c.728_735delGGCCTCAG (p.Gly243Alafs) deletion Pathogenic rs1060500742 18:48584555-48584562 18:51058185-51058192
11 SMAD4 NM_005359.5(SMAD4): c.1096C> T (p.Gln366Ter) single nucleotide variant Pathogenic rs1060500733 18:48591933-48591933 18:51065563-51065563
12 BMPR1A NM_004329.2(BMPR1A): c.730C> T (p.Arg244Ter) single nucleotide variant Pathogenic rs759363072 10:88676945-88676945 10:86917188-86917188
13 BMPR1A NM_004329.2(BMPR1A): c.441_458delinsGA (p.Phe147fs) indel Pathogenic rs1131691179 10:88659794-88659811 10:86900037-86900054
14 BMPR1A NM_004329.2(BMPR1A): c.578dup (p.Leu193fs) duplication Pathogenic rs1554890219 10:88672044-88672044 10:86912287-86912287
15 BMPR1A NM_004329.2(BMPR1A): c.834C> A (p.Tyr278Ter) single nucleotide variant Pathogenic rs1230919713 10:88677049-88677049 10:86917292-86917292
16 BMPR1A NM_004329.2(BMPR1A): c.567C> A (p.Tyr189Ter) single nucleotide variant Pathogenic rs1554890213 10:88672033-88672033 10:86912276-86912276
17 BMPR1A NM_004329.2(BMPR1A): c.957dup (p.Phe320fs) duplication Pathogenic rs1554891043 10:88679017-88679017 10:86919260-86919260
18 SMAD4 NC_000018.9: g.(?_48573411)_(48604843_?)del deletion Pathogenic 18:48573411-48604843 :0-0
19 SMAD4 NM_005359.5(SMAD4): c.461C> G (p.Ser154Ter) single nucleotide variant Pathogenic rs1555685624 18:48581157-48581157 18:51054787-51054787
20 SMAD4 NM_005359.5(SMAD4): c.1166_1167delTG (p.Leu389Terfs) deletion Pathogenic rs1555686600 18:48593415-48593416 18:51067045-51067046
21 SMAD4 NM_005359.5(SMAD4): c.1138delA (p.Arg380Glyfs) deletion Pathogenic rs1555686506 18:48591975-48591975 18:51065605-51065605
22 SMAD4 NM_005359.5(SMAD4): c.1228_1229delCA (p.Gln410Glufs) deletion Pathogenic rs1555686608 18:48593477-48593478 18:51067107-51067108
23 SMAD4 deletion Pathogenic
24 BMPR1A NM_004329.2(BMPR1A): c.1360C> T (p.Gln454Ter) single nucleotide variant Pathogenic rs1554891570 10:88683150-88683150 10:86923393-86923393
25 BMPR1A NM_004329.2(BMPR1A): c.44_47del (p.Leu15fs) deletion Pathogenic rs1554886816 10:88635819-88635822 10:86876062-86876065
26 BMPR1A NM_004329.2(BMPR1A): c.731dup (p.Tyr245fs) duplication Pathogenic rs1554890759 10:88676946-88676946 10:86917189-86917189
27 BMPR1A NM_004329.2(BMPR1A): c.910C> T (p.Gln304Ter) single nucleotide variant Pathogenic rs1404557708 10:88678970-88678970 10:86919213-86919213
28 BMPR1A NM_004329.2(BMPR1A): c.366_384del (p.Glu123fs) deletion Pathogenic rs1554888970 10:88659583-88659601 10:86899826-86899844
29 BMPR1A NM_004329.2(BMPR1A): c.419del (p.Pro140fs) deletion Pathogenic rs1554888986 10:88659636-88659636 10:86899879-86899879
30 BMPR1A NM_004329.2(BMPR1A): c.864dup (p.Leu289fs) duplication Pathogenic rs1554890815 10:88677079-88677079 10:86917322-86917322
31 SMAD4 NM_005359.5(SMAD4): c.1324C> T (p.Gln442Ter) single nucleotide variant Pathogenic rs1555687378 18:48603023-48603023 18:51076653-51076653
32 SMAD4 NM_005359.5(SMAD4): c.1407_1410dup (p.Gly471Profs) duplication Pathogenic rs1555687386 18:48603106-48603109 18:51076736-51076739
33 SMAD4 NM_005359.5(SMAD4): c.1409delC (p.Pro470Leufs) deletion Pathogenic rs1555687387 18:48603108-48603108 18:51076738-51076738
34 SMAD4 NM_005359.5(SMAD4): c.1134_1135delAG (p.Arg378Serfs) short repeat Pathogenic rs1555686503 18:48591971-48591972 18:51065601-51065602
35 SMAD4 NM_005359.5(SMAD4): c.1308+2T> C single nucleotide variant Pathogenic rs1555686624 18:48593559-48593559 18:51067189-51067189
36 deletion Pathogenic
37 BMPR1A BMPR1A, 4-BP DEL, 44TGTT deletion Pathogenic
38 BMPR1A NM_004329.2(BMPR1A): c.715C> T (p.Gln239Ter) single nucleotide variant Pathogenic rs199476084 10:88676930-88676930 10:86917173-86917173
39 BMPR1A NM_004329.2(BMPR1A): c.812G> A (p.Trp271Ter) single nucleotide variant Pathogenic rs199476085 10:88677027-88677027 10:86917270-86917270
40 BMPR1A BMPR1A, 1-BP DEL, 961C deletion Pathogenic
41 BMPR1A NM_004329.2(BMPR1A): c.1127G> A (p.Cys376Tyr) single nucleotide variant Pathogenic rs199476088 10:88679187-88679187 10:86919430-86919430
42 SMAD4 SMAD4, 4-BP DEL, NT1372 deletion Pathogenic
43 SMAD4 SMAD4, 2-BP DEL deletion Pathogenic
44 SMAD4 SMAD4, 1-BP INS insertion Pathogenic
45 SMAD4 NM_005359.5(SMAD4): c.1081C> T (p.Arg361Cys) single nucleotide variant Pathogenic rs80338963 18:48591918-48591918 18:51065548-51065548
46 SMAD4 SMAD4, 2-BP DEL, 959AC deletion Pathogenic
47 SMAD4 NM_005359.5(SMAD4): c.1162C> T (p.Gln388Ter) single nucleotide variant Pathogenic rs80338964 18:48593411-48593411 18:51067041-51067041
48 SMAD4 NM_005359.5(SMAD4): c.(?_-17093)_(1659_?)del deletion Pathogenic 18:48540028-48604837 18:51013658-51078467
49 SMAD4 NM_005359.5(SMAD4): c.430_431delTC (p.Ser144Argfs) short repeat Pathogenic rs377767328 18:48575670-48575671 18:51049300-51049301
50 SMAD4 NM_005359.5(SMAD4): c.437T> A (p.Leu146Ter) single nucleotide variant Pathogenic rs377767329 18:48575677-48575677 18:51049307-51049307

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 17)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.15 SMAD4 BMPR1A
2
Show member pathways
12.05 SMAD4 BMPR1A
3
Show member pathways
11.99 SMAD4 BMPR1A
4 11.8 SMAD4 ENG
5 11.71 SMAD4 BMPR1A
6 11.7 SMAD4 BMPR1A
7 11.65 SMAD4 BMPR1A
8 11.62 SMAD4 BMPR1A
9 11.44 SMAD4 ENG
10 11.41 SMAD4 BMPR1A
11
Show member pathways
11.29 SMAD4 BMPR1A
12
Show member pathways
11.23 SMAD4 BMPR1A
13 11.13 SMAD4 ENG
14 11.02 SMAD4 ENG
15 10.82 SMAD4 BMPR1A
16 10.35 SMAD4 ENG
17 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 21)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 9.76 SMAD4 ENG BMPR1A
2 heart development GO:0007507 9.6 ENG BMPR1A
3 in utero embryonic development GO:0001701 9.59 SMAD4 BMPR1A
4 anterior/posterior pattern specification GO:0009952 9.58 SMAD4 BMPR1A
5 transforming growth factor beta receptor signaling pathway GO:0007179 9.57 SMAD4 BMPR1A
6 embryonic digit morphogenesis GO:0042733 9.56 SMAD4 BMPR1A
7 cellular response to BMP stimulus GO:0071773 9.55 SMAD4 BMPR1A
8 positive regulation of BMP signaling pathway GO:0030513 9.54 SMAD4 ENG
9 endoderm development GO:0007492 9.52 SMAD4 BMPR1A
10 developmental growth GO:0048589 9.51 SMAD4 BMPR1A
11 regulation of transforming growth factor beta receptor signaling pathway GO:0017015 9.49 SMAD4 ENG
12 endocardial cushion morphogenesis GO:0003203 9.48 ENG BMPR1A
13 ventricular trabecula myocardium morphogenesis GO:0003222 9.46 ENG BMPR1A
14 response to transforming growth factor beta GO:0071559 9.43 SMAD4 ENG
15 BMP signaling pathway GO:0030509 9.43 SMAD4 ENG BMPR1A
16 positive regulation of SMAD protein signal transduction GO:0060391 9.4 SMAD4 BMPR1A
17 epithelial to mesenchymal transition involved in endocardial cushion formation GO:0003198 9.37 SMAD4 ENG
18 dorsal aorta morphogenesis GO:0035912 9.32 ENG BMPR1A
19 regulation of cardiac muscle cell apoptotic process GO:0010665 9.16 ENG BMPR1A
20 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.13 SMAD4 ENG BMPR1A
21 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
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10 dbSNP
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17 EFO
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34 ICD10 via Orphanet
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
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73 UMLS via Orphanet
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