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 60

Characteristics:

Orphanet epidemiological data:

60
generalized juvenile polyposis/juvenile polyposis coli
Inheritance: Autosomal dominant; Age of onset: All ages;

Classifications:



External Ids:

ICD10 via Orphanet 35 D12.6
Orphanet 60 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 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 9.8 ENG SMAD4
4 pulmonary hypertension 9.7 ENG SMAD4
5 familial colorectal cancer type x 9.7 BMPR1A SMAD4
6 juvenile polyposis syndrome 9.7 BMPR1A SMAD4
7 large intestine cancer 9.4 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:

27
# 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:

47
# 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:

42
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 1481)
# Gene Variation Type Significance SNP ID Assembly Location
1 BMPR1A NM_004329.2(BMPR1A): c.5C> T (p.Pro2Leu) single nucleotide variant Uncertain significance rs143248687 GRCh38 Chromosome 10, 86876023: 86876023
2 BMPR1A NM_004329.2(BMPR1A): c.5C> T (p.Pro2Leu) single nucleotide variant Uncertain significance rs143248687 GRCh37 Chromosome 10, 88635780: 88635780
3 BMPR1A NM_004329.2(BMPR1A): c.911A> G (p.Gln304Arg) single nucleotide variant Uncertain significance rs730881434 GRCh38 Chromosome 10, 86919214: 86919214
4 BMPR1A NM_004329.2(BMPR1A): c.911A> G (p.Gln304Arg) single nucleotide variant Uncertain significance rs730881434 GRCh37 Chromosome 10, 88678971: 88678971
5 BMPR1A NM_004329.2(BMPR1A): c.943G> A (p.Gly315Arg) single nucleotide variant Uncertain significance rs730881435 GRCh38 Chromosome 10, 86919246: 86919246
6 BMPR1A NM_004329.2(BMPR1A): c.943G> A (p.Gly315Arg) single nucleotide variant Uncertain significance rs730881435 GRCh37 Chromosome 10, 88679003: 88679003
7 BMPR1A NM_004329.2(BMPR1A): c.1082G> A (p.Arg361Gln) single nucleotide variant Uncertain significance rs730881436 GRCh38 Chromosome 10, 86919385: 86919385
8 BMPR1A NM_004329.2(BMPR1A): c.1082G> A (p.Arg361Gln) single nucleotide variant Uncertain significance rs730881436 GRCh37 Chromosome 10, 88679142: 88679142
9 SMAD4 NM_005359.5(SMAD4): c.607C> G (p.Pro203Ala) single nucleotide variant Uncertain significance rs199809905 GRCh38 Chromosome 18, 51054933: 51054933
10 SMAD4 NM_005359.5(SMAD4): c.607C> G (p.Pro203Ala) single nucleotide variant Uncertain significance rs199809905 GRCh37 Chromosome 18, 48581303: 48581303
11 SMAD4 NM_005359.5(SMAD4): c.677C> T (p.Ala226Val) single nucleotide variant Conflicting interpretations of pathogenicity rs539739051 GRCh38 Chromosome 18, 51058134: 51058134
12 SMAD4 NM_005359.5(SMAD4): c.677C> T (p.Ala226Val) single nucleotide variant Conflicting interpretations of pathogenicity rs539739051 GRCh37 Chromosome 18, 48584504: 48584504
13 SMAD4 NM_005359.5(SMAD4): c.917A> G (p.Asn306Ser) single nucleotide variant Uncertain significance rs730881953 GRCh38 Chromosome 18, 51059878: 51059878
14 SMAD4 NM_005359.5(SMAD4): c.917A> G (p.Asn306Ser) single nucleotide variant Uncertain significance rs730881953 GRCh37 Chromosome 18, 48586248: 48586248
15 SMAD4 NM_005359.5(SMAD4): c.1634T> A (p.Ile545Asn) single nucleotide variant Uncertain significance rs730881955 GRCh38 Chromosome 18, 51078442: 51078442
16 SMAD4 NM_005359.5(SMAD4): c.1634T> A (p.Ile545Asn) single nucleotide variant Uncertain significance rs730881955 GRCh37 Chromosome 18, 48604812: 48604812
17 BMPR1A NM_004329.2(BMPR1A): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic/Likely pathogenic rs786203157 GRCh37 Chromosome 10, 88635776: 88635776
18 BMPR1A NM_004329.2(BMPR1A): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic/Likely pathogenic rs786203157 GRCh38 Chromosome 10, 86876019: 86876019
19 BMPR1A NM_004329.2(BMPR1A): c.30A> G (p.Leu10=) single nucleotide variant Likely benign rs754752449 GRCh37 Chromosome 10, 88635805: 88635805
20 BMPR1A NM_004329.2(BMPR1A): c.30A> G (p.Leu10=) single nucleotide variant Likely benign rs754752449 GRCh38 Chromosome 10, 86876048: 86876048
21 BMPR1A NM_004329.2(BMPR1A): c.124A> G (p.Lys42Glu) single nucleotide variant Uncertain significance rs786203156 GRCh37 Chromosome 10, 88649875: 88649875
22 BMPR1A NM_004329.2(BMPR1A): c.124A> G (p.Lys42Glu) single nucleotide variant Uncertain significance rs786203156 GRCh38 Chromosome 10, 86890118: 86890118
23 BMPR1A NM_004329.2(BMPR1A): c.140G> A (p.Gly47Glu) single nucleotide variant Uncertain significance rs368595543 GRCh37 Chromosome 10, 88649891: 88649891
24 BMPR1A NM_004329.2(BMPR1A): c.140G> A (p.Gly47Glu) single nucleotide variant Uncertain significance rs368595543 GRCh38 Chromosome 10, 86890134: 86890134
25 BMPR1A NM_004329.2(BMPR1A): c.176delT (p.Leu59Terfs) deletion Pathogenic rs786201038 GRCh38 Chromosome 10, 86890170: 86890170
26 BMPR1A NM_004329.2(BMPR1A): c.176delT (p.Leu59Terfs) deletion Pathogenic rs786201038 GRCh37 Chromosome 10, 88649927: 88649927
27 BMPR1A NM_004329.2(BMPR1A): c.383A> G (p.Asn128Ser) single nucleotide variant Uncertain significance rs375165807 GRCh37 Chromosome 10, 88659600: 88659600
28 BMPR1A NM_004329.2(BMPR1A): c.383A> G (p.Asn128Ser) single nucleotide variant Uncertain significance rs375165807 GRCh38 Chromosome 10, 86899843: 86899843
29 BMPR1A NM_004329.2(BMPR1A): c.435G> A (p.Pro145=) single nucleotide variant Benign rs11818239 GRCh38 Chromosome 10, 86900031: 86900031
30 BMPR1A NM_004329.2(BMPR1A): c.435G> A (p.Pro145=) single nucleotide variant Benign rs11818239 GRCh37 Chromosome 10, 88659788: 88659788
31 BMPR1A NM_004329.2(BMPR1A): c.510C> T (p.Phe170=) single nucleotide variant Likely benign rs747266339 GRCh38 Chromosome 10, 86900106: 86900106
32 BMPR1A NM_004329.2(BMPR1A): c.510C> T (p.Phe170=) single nucleotide variant Likely benign rs747266339 GRCh37 Chromosome 10, 88659863: 88659863
33 BMPR1A NM_004329.2(BMPR1A): c.524G> A (p.Cys175Tyr) single nucleotide variant Uncertain significance rs370091063 GRCh37 Chromosome 10, 88659877: 88659877
34 BMPR1A NM_004329.2(BMPR1A): c.524G> A (p.Cys175Tyr) single nucleotide variant Uncertain significance rs370091063 GRCh38 Chromosome 10, 86900120: 86900120
35 BMPR1A NM_004329.2(BMPR1A): c.682C> A (p.Arg228=) single nucleotide variant Benign/Likely benign rs587782682 GRCh38 Chromosome 10, 86917140: 86917140
36 BMPR1A NM_004329.2(BMPR1A): c.682C> A (p.Arg228=) single nucleotide variant Benign/Likely benign rs587782682 GRCh37 Chromosome 10, 88676897: 88676897
37 BMPR1A NM_004329.2(BMPR1A): c.765C> T (p.Gly255=) single nucleotide variant Likely benign rs786201114 GRCh38 Chromosome 10, 86917223: 86917223
38 BMPR1A NM_004329.2(BMPR1A): c.765C> T (p.Gly255=) single nucleotide variant Likely benign rs786201114 GRCh37 Chromosome 10, 88676980: 88676980
39 BMPR1A NM_004329.2(BMPR1A): c.961C> T (p.Leu321=) single nucleotide variant Benign/Likely benign rs377412651 GRCh37 Chromosome 10, 88679021: 88679021
40 BMPR1A NM_004329.2(BMPR1A): c.961C> T (p.Leu321=) single nucleotide variant Benign/Likely benign rs377412651 GRCh38 Chromosome 10, 86919264: 86919264
41 BMPR1A NM_004329.2(BMPR1A): c.993G> A (p.Leu331=) single nucleotide variant Likely benign rs786202827 GRCh37 Chromosome 10, 88679053: 88679053
42 BMPR1A NM_004329.2(BMPR1A): c.993G> A (p.Leu331=) single nucleotide variant Likely benign rs786202827 GRCh38 Chromosome 10, 86919296: 86919296
43 BMPR1A NM_004329.2(BMPR1A): c.1081C> T (p.Arg361Ter) single nucleotide variant Pathogenic rs764466442 GRCh38 Chromosome 10, 86919384: 86919384
44 BMPR1A NM_004329.2(BMPR1A): c.1081C> T (p.Arg361Ter) single nucleotide variant Pathogenic rs764466442 GRCh37 Chromosome 10, 88679141: 88679141
45 BMPR1A NM_004329.2(BMPR1A): c.1173A> T (p.Thr391=) single nucleotide variant Likely benign rs766032673 GRCh38 Chromosome 10, 86921526: 86921526
46 BMPR1A NM_004329.2(BMPR1A): c.1173A> T (p.Thr391=) single nucleotide variant Likely benign rs766032673 GRCh37 Chromosome 10, 88681283: 88681283
47 BMPR1A NM_004329.2(BMPR1A): c.1191C> G (p.Pro397=) single nucleotide variant Likely benign rs751078831 GRCh37 Chromosome 10, 88681301: 88681301
48 BMPR1A NM_004329.2(BMPR1A): c.1191C> G (p.Pro397=) single nucleotide variant Likely benign rs751078831 GRCh38 Chromosome 10, 86921544: 86921544
49 BMPR1A NM_004329.2(BMPR1A): c.1231G> A (p.Glu411Lys) single nucleotide variant Uncertain significance rs786202611 GRCh37 Chromosome 10, 88681341: 88681341
50 BMPR1A NM_004329.2(BMPR1A): c.1231G> A (p.Glu411Lys) single nucleotide variant Uncertain significance rs786202611 GRCh38 Chromosome 10, 86921584: 86921584

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 BMPR1A SMAD4
2
Show member pathways
12.01 BMPR1A SMAD4
3
Show member pathways
11.98 BMPR1A SMAD4
4 11.78 ENG SMAD4
5 11.7 BMPR1A SMAD4
6 11.68 BMPR1A SMAD4
7 11.64 BMPR1A SMAD4
8 11.6 BMPR1A SMAD4
9 11.42 ENG SMAD4
10 11.36 BMPR1A SMAD4
11
Show member pathways
11.23 BMPR1A SMAD4
12 11.13 ENG SMAD4
13 11.02 ENG SMAD4
14 10.82 BMPR1A SMAD4
15 10.35 ENG SMAD4
16 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

3 CDC
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10 dbSNP
11 DGIdb
17 EFO
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45 MeSH
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59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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