MCID: GNR035
MIFTS: 22

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:

Orphanet 59 ORPHA329971
ICD10 via Orphanet 34 D12.6

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 SMAD4 (SMAD Family Member 4), and among its related pathways/superpathways are Mesodermal Commitment Pathway and DREAM Repression and Dynorphin Expression. Affiliated tissues include colon, and related phenotypes are Increased mitotic index and craniofacial

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 9.9 ENG SMAD4
2 congenital lipomatous overgrowth, vascular malformations, and epidermal nevi 9.9 ENG SMAD4
3 hereditary hemorrhagic telangiectasia 9.9 ENG SMAD4
4 familial colorectal cancer type x 9.8 BMPR1A SMAD4
5 pulmonary hypertension 9.8 ENG SMAD4
6 juvenile polyposis syndrome 9.8 BMPR1A SMAD4
7 cowden disease 9.8 BMPR1A SMAD4
8 large intestine cancer 9.6 BMPR1A SMAD4

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

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

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 1478)
# Gene Variation Type Significance SNP ID Assembly Location
1 BMPR1A BMPR1A, 4-BP DEL, 44TGTT deletion Pathogenic
2 BMPR1A NM_004329.2(BMPR1A): c.715C> T (p.Gln239Ter) single nucleotide variant Pathogenic rs199476084 GRCh37 Chromosome 10, 88676930: 88676930
3 BMPR1A NM_004329.2(BMPR1A): c.715C> T (p.Gln239Ter) single nucleotide variant Pathogenic rs199476084 GRCh38 Chromosome 10, 86917173: 86917173
4 BMPR1A NM_004329.2(BMPR1A): c.812G> A (p.Trp271Ter) single nucleotide variant Pathogenic rs199476085 GRCh37 Chromosome 10, 88677027: 88677027
5 BMPR1A NM_004329.2(BMPR1A): c.812G> A (p.Trp271Ter) single nucleotide variant Pathogenic rs199476085 GRCh38 Chromosome 10, 86917270: 86917270
6 BMPR1A BMPR1A, 1-BP DEL, 961C deletion Pathogenic
7 BMPR1A NM_004329.2(BMPR1A): c.1013C> A (p.Ala338Asp) single nucleotide variant Likely pathogenic rs199476086 GRCh37 Chromosome 10, 88679073: 88679073
8 BMPR1A NM_004329.2(BMPR1A): c.1013C> A (p.Ala338Asp) single nucleotide variant Likely pathogenic rs199476086 GRCh38 Chromosome 10, 86919316: 86919316
9 BMPR1A NM_004329.2(BMPR1A): c.370T> C (p.Cys124Arg) single nucleotide variant Likely pathogenic rs199476087 GRCh37 Chromosome 10, 88659587: 88659587
10 BMPR1A NM_004329.2(BMPR1A): c.370T> C (p.Cys124Arg) single nucleotide variant Likely pathogenic rs199476087 GRCh38 Chromosome 10, 86899830: 86899830
11 BMPR1A NM_004329.2(BMPR1A): c.1127G> A (p.Cys376Tyr) single nucleotide variant Pathogenic rs199476088 GRCh37 Chromosome 10, 88679187: 88679187
12 BMPR1A NM_004329.2(BMPR1A): c.1127G> A (p.Cys376Tyr) single nucleotide variant Pathogenic rs199476088 GRCh38 Chromosome 10, 86919430: 86919430
13 BMPR1A NM_004329.2(BMPR1A): c.1409T> C (p.Met470Thr) single nucleotide variant Uncertain significance rs199476089 GRCh37 Chromosome 10, 88683199: 88683199
14 BMPR1A NM_004329.2(BMPR1A): c.1409T> C (p.Met470Thr) single nucleotide variant Uncertain significance rs199476089 GRCh38 Chromosome 10, 86923442: 86923442
15 SMAD4 SMAD4, 4-BP DEL, NT1372 deletion Pathogenic
16 SMAD4 SMAD4, 2-BP DEL deletion Pathogenic
17 SMAD4 SMAD4, 1-BP INS insertion Pathogenic
18 SMAD4 NM_005359.5(SMAD4): c.1081C> T (p.Arg361Cys) single nucleotide variant Pathogenic rs80338963 GRCh37 Chromosome 18, 48591918: 48591918
19 SMAD4 NM_005359.5(SMAD4): c.1081C> T (p.Arg361Cys) single nucleotide variant Pathogenic rs80338963 GRCh38 Chromosome 18, 51065548: 51065548
20 SMAD4 SMAD4, 2-BP DEL, 959AC deletion Pathogenic
21 SMAD4 NM_005359.5(SMAD4): c.1162C> T (p.Gln388Ter) single nucleotide variant Pathogenic rs80338964 GRCh37 Chromosome 18, 48593411: 48593411
22 SMAD4 NM_005359.5(SMAD4): c.1162C> T (p.Gln388Ter) single nucleotide variant Pathogenic rs80338964 GRCh38 Chromosome 18, 51067041: 51067041
23 SMAD4 NM_005359.5(SMAD4): c.905-52A> G single nucleotide variant Benign rs948589 GRCh38 Chromosome 18, 51059814: 51059814
24 SMAD4 NM_005359.5(SMAD4): c.(?_-17093)_(1659_?)del deletion Pathogenic GRCh38 Chromosome 18, 51013658: 51078467
25 SMAD4 NM_005359.5(SMAD4): c.(?_-17093)_(1659_?)del deletion Pathogenic GRCh37 Chromosome 18, 48540028: 48604837
26 SMAD4 NM_005359.5(SMAD4): c.905-32T= single nucleotide variant Benign GRCh37 Chromosome 18, 48586204: 48586204
27 SMAD4 NM_005359.5(SMAD4): c.905-32T= single nucleotide variant Benign GRCh38 Chromosome 18, 51059834: 51059834
28 SMAD4 NM_005359.5(SMAD4): c.354G> A (p.Ala118=) single nucleotide variant Benign/Likely benign rs145988618 GRCh37 Chromosome 18, 48575160: 48575160
29 SMAD4 NM_005359.5(SMAD4): c.354G> A (p.Ala118=) single nucleotide variant Benign/Likely benign rs145988618 GRCh38 Chromosome 18, 51048790: 51048790
30 SMAD4 NM_005359.5(SMAD4): c.373_374insAT (p.Ser125Asnfs) insertion Pathogenic rs377767324 GRCh37 Chromosome 18, 48575179: 48575180
31 SMAD4 NM_005359.5(SMAD4): c.373_374insAT (p.Ser125Asnfs) insertion Pathogenic rs377767324 GRCh38 Chromosome 18, 51048809: 51048810
32 SMAD4 NM_005359.5(SMAD4): c.375_381dupTGTCTGT (p.Val128Cysfs) duplication Pathogenic rs377767325 GRCh37 Chromosome 18, 48575181: 48575187
33 SMAD4 NM_005359.5(SMAD4): c.375_381dupTGTCTGT (p.Val128Cysfs) duplication Pathogenic rs377767325 GRCh38 Chromosome 18, 51048811: 51048817
34 SMAD4 NM_005359.5(SMAD4): c.403C> T (p.Arg135Ter) single nucleotide variant Pathogenic rs377767326 GRCh37 Chromosome 18, 48575209: 48575209
35 SMAD4 NM_005359.5(SMAD4): c.403C> T (p.Arg135Ter) single nucleotide variant Pathogenic rs377767326 GRCh38 Chromosome 18, 51048839: 51048839
36 SMAD4 NM_005359.5(SMAD4): c.425-6A> G single nucleotide variant Uncertain significance rs377767327 GRCh37 Chromosome 18, 48575659: 48575659
37 SMAD4 NM_005359.5(SMAD4): c.425-6A> G single nucleotide variant Uncertain significance rs377767327 GRCh38 Chromosome 18, 51049289: 51049289
38 SMAD4 NM_005359.5(SMAD4): c.430_431delTC (p.Ser144Argfs) deletion Pathogenic rs377767328 GRCh37 Chromosome 18, 48575670: 48575671
39 SMAD4 NM_005359.5(SMAD4): c.430_431delTC (p.Ser144Argfs) deletion Pathogenic rs377767328 GRCh38 Chromosome 18, 51049300: 51049301
40 SMAD4 NM_005359.5(SMAD4): c.437T> A (p.Leu146Ter) single nucleotide variant Pathogenic rs377767329 GRCh37 Chromosome 18, 48575677: 48575677
41 SMAD4 NM_005359.5(SMAD4): c.437T> A (p.Leu146Ter) single nucleotide variant Pathogenic rs377767329 GRCh38 Chromosome 18, 51049307: 51049307
42 SMAD4 NM_005359.5(SMAD4): c.516_527delGTCCACTGAAGG (p.Ser173_Gly176del) deletion Pathogenic rs377767330 GRCh37 Chromosome 18, 48581212: 48581223
43 SMAD4 NM_005359.5(SMAD4): c.516_527delGTCCACTGAAGG (p.Ser173_Gly176del) deletion Pathogenic rs377767330 GRCh38 Chromosome 18, 51054842: 51054853
44 SMAD4 NM_005359.5(SMAD4): c.533C> G (p.Ser178Ter) single nucleotide variant Pathogenic rs377767331 GRCh37 Chromosome 18, 48581229: 48581229
45 SMAD4 NM_005359.5(SMAD4): c.533C> G (p.Ser178Ter) single nucleotide variant Pathogenic rs377767331 GRCh38 Chromosome 18, 51054859: 51054859
46 SMAD4 NM_005359.5(SMAD4): c.538C> T (p.Gln180Ter) single nucleotide variant Pathogenic rs377767332 GRCh37 Chromosome 18, 48581234: 48581234
47 SMAD4 NM_005359.5(SMAD4): c.538C> T (p.Gln180Ter) single nucleotide variant Pathogenic rs377767332 GRCh38 Chromosome 18, 51054864: 51054864
48 SMAD4 NM_005359.5(SMAD4): c.608delC (p.Pro203Hisfs) deletion Pathogenic rs377767333 GRCh37 Chromosome 18, 48581304: 48581304
49 SMAD4 NM_005359.5(SMAD4): c.608delC (p.Pro203Hisfs) deletion Pathogenic rs377767333 GRCh38 Chromosome 18, 51054934: 51054934
50 SMAD4 NM_005359.5(SMAD4): c.668-?_1659+?del deletion Pathogenic GRCh37 Chromosome 18, 48584495: 48604837

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
12.05 BMPR1A SMAD4
2
Show member pathways
12.02 BMPR1A SMAD4
3
Show member pathways
11.99 BMPR1A SMAD4
4 11.8 ENG SMAD4
5 11.71 BMPR1A SMAD4
6 11.7 BMPR1A SMAD4
7 11.65 BMPR1A SMAD4
8 11.62 BMPR1A SMAD4
9 11.44 ENG SMAD4
10 11.36 BMPR1A SMAD4
11
Show member pathways
11.29 BMPR1A SMAD4
12
Show member pathways
11.23 BMPR1A SMAD4
13 11.13 ENG SMAD4
14 11.02 ENG SMAD4
15 10.82 BMPR1A SMAD4
16 10.35 ENG SMAD4
17 9.97 BMPR1A SMAD4

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 BMPR1A ENG

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 BMPR1A ENG SMAD4
2 heart development GO:0007507 9.6 BMPR1A ENG
3 in utero embryonic development GO:0001701 9.59 BMPR1A SMAD4
4 anterior/posterior pattern specification GO:0009952 9.58 BMPR1A SMAD4
5 transforming growth factor beta receptor signaling pathway GO:0007179 9.57 BMPR1A SMAD4
6 embryonic digit morphogenesis GO:0042733 9.56 BMPR1A SMAD4
7 cellular response to BMP stimulus GO:0071773 9.55 BMPR1A SMAD4
8 positive regulation of BMP signaling pathway GO:0030513 9.54 ENG SMAD4
9 endoderm development GO:0007492 9.52 BMPR1A SMAD4
10 developmental growth GO:0048589 9.51 BMPR1A SMAD4
11 regulation of transforming growth factor beta receptor signaling pathway GO:0017015 9.49 ENG SMAD4
12 endocardial cushion morphogenesis GO:0003203 9.48 BMPR1A ENG
13 ventricular trabecula myocardium morphogenesis GO:0003222 9.46 BMPR1A ENG
14 epithelial to mesenchymal transition involved in endocardial cushion formation GO:0003198 9.43 ENG SMAD4
15 BMP signaling pathway GO:0030509 9.43 BMPR1A ENG SMAD4
16 positive regulation of SMAD protein signal transduction GO:0060391 9.4 BMPR1A SMAD4
17 response to transforming growth factor beta GO:0071559 9.37 ENG SMAD4
18 dorsal aorta morphogenesis GO:0035912 9.32 BMPR1A ENG
19 regulation of cardiac muscle cell apoptotic process GO:0010665 9.16 BMPR1A ENG
20 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.13 BMPR1A ENG SMAD4
21 outflow tract septum morphogenesis GO:0003148 8.8 BMPR1A ENG SMAD4

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 BMPR1A ENG SMAD4

Sources for Generalized Juvenile Polyposis/juvenile Polyposis Coli

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10 dbSNP
11 DGIdb
17 ExPASy
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
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74 UMLS via Orphanet
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