HMPS
MCID: HRD144
MIFTS: 51

Hereditary Mixed Polyposis Syndrome (HMPS)

Categories: Cancer diseases, Gastrointestinal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Hereditary Mixed Polyposis Syndrome

MalaCards integrated aliases for Hereditary Mixed Polyposis Syndrome:

Name: Hereditary Mixed Polyposis Syndrome 12 58 36 29 6 15
Hmps 12 58
Hereditary Mixed Polyposis 6

Characteristics:

Orphanet epidemiological data:

58
hereditary mixed polyposis syndrome
Inheritance: Autosomal dominant; Age of onset: Childhood;

Classifications:

Orphanet: 58  
Rare gastroenterological diseases


Summaries for Hereditary Mixed Polyposis Syndrome

KEGG : 36 Hereditary mixed polyposis syndrome (HMPS) is a rare condition characterized by mixed hyperplastic, adenomatous and juvenile polyps and is associated with an increased risk of colorectal carcinoma. HMPS is linked to mutations in the BMPR1A gene.

MalaCards based summary : Hereditary Mixed Polyposis Syndrome, also known as hmps, is related to polyposis syndrome, hereditary mixed, 2 and polyposis syndrome, hereditary mixed, 1. An important gene associated with Hereditary Mixed Polyposis Syndrome is GREM1 (Gremlin 1, DAN Family BMP Antagonist), and among its related pathways/superpathways are Cytokine-cytokine receptor interaction and TGF-beta signaling pathway. The drugs Silicon and Trace Elements have been mentioned in the context of this disorder. Affiliated tissues include colon, neutrophil and skin, and related phenotypes are hematochezia and hyperplastic colonic polyposis

Disease Ontology : 12 An intestinal disease characterized by a mixture of hyperplastic, atypical juvenile and adenomatous polyps that are associated with an increased risk of developing colorectal cancer when untreated.

Related Diseases for Hereditary Mixed Polyposis Syndrome

Diseases in the Hereditary Mixed Polyposis Syndrome family:

Polyposis Syndrome, Hereditary Mixed, 1 Polyposis Syndrome, Hereditary Mixed, 2

Diseases related to Hereditary Mixed Polyposis Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 88)
# Related Disease Score Top Affiliating Genes
1 polyposis syndrome, hereditary mixed, 2 34.2 IMMT BMPR1A
2 polyposis syndrome, hereditary mixed, 1 32.3 TTK SCG5 PTGS2 NDC80 MUTYH MSH2
3 adenoma 30.7 SMAD4 PTGS2 MUTYH MSH2 MLH1
4 familial colorectal cancer 30.4 MUTYH MSH2 MLH1
5 colorectal adenoma 30.1 PTGS2 MUTYH MSH2 MLH1 GREM1
6 familial adenomatous polyposis 30.0 SMAD4 PTGS2 MUTYH MSH2 MLH1
7 juvenile polyposis syndrome 29.7 STK11 SMAD4 PTGS2 POLD1 MUTYH MSH2
8 lynch syndrome 29.4 STK11 SMAD4 POLE POLD1 MUTYH MSH2
9 mosaic variegated aneuploidy syndrome 10.5 BUB1B BUB1
10 familial colorectal cancer type x 10.5 SMAD4 BMPR1A
11 attenuated familial adenomatous polyposis 10.4 MUTYH MSH2
12 gastrointestinal adenoma 10.4 SMAD4 MUTYH
13 myh-associated polyposis 10.4 MUTYH MSH2
14 polymerase proofreading-related adenomatous polyposis 10.4 POLE POLD1
15 extrahepatic bile duct adenoma 10.4 MSH2 MLH1
16 renal pelvis transitional cell carcinoma 10.4 MSH2 MLH1
17 adenosquamous colon carcinoma 10.4 MSH2 MLH1
18 jejunal adenocarcinoma 10.4 MUTYH MLH1
19 rectum signet ring adenocarcinoma 10.4 MSH2 MLH1
20 appendix carcinoid tumor 10.4 MSH2 MLH1
21 colorectal cancer, hereditary nonpolyposis, type 6 10.3 MUTYH MSH2 MLH1
22 sebaceous gland neoplasm 10.3 MUTYH MSH2 MLH1
23 sebaceous adenoma 10.3 MUTYH MSH2 MLH1
24 ascending colon cancer 10.3 MSH2 MLH1
25 colorectal cancer, hereditary nonpolyposis, type 5 10.3 MUTYH MSH2 MLH1
26 small intestine adenocarcinoma 10.3 SMAD4 MSH2 MLH1
27 polyposis, skin pigmentation, alopecia, and fingernail changes 10.3 STK11 SMAD4 MUTYH BMPR1A
28 autosomal dominant non-syndromic intellectual disability 8 10.3 MSH2 MLH1
29 lower lip cancer 10.3 MSH2 MLH1
30 muir-torre syndrome 10.3 MUTYH MSH2 MLH1
31 melanocytic nevus syndrome, congenital 10.3 STK11 MSH2 MLH1
32 dysplastic nevus syndrome 10.3 STK11 MSH2 MLH1
33 lymphangioma 10.2 PTGS2 MSH2 MLH1
34 jejunal cancer 10.2 MUTYH MSH2 MLH1 BMPR1A
35 mosaic variegated aneuploidy syndrome 1 10.2 TTK CENPE BUB1B BUB1
36 biliary tract cancer 10.2 SMAD4 MLH1
37 endometrioid ovary carcinoma 10.2 POLE MSH2 MLH1
38 pulmonary disease, chronic obstructive 10.2
39 duodenum cancer 10.2 SMAD4 MUTYH MSH2 MLH1
40 duodenum disease 10.2 SMAD4 MUTYH MSH2 MLH1
41 colonic benign neoplasm 10.2 SMAD4 PTGS2 MSH2 MLH1
42 female reproductive endometrioid cancer 10.2 POLE MSH2 MLH1
43 cervical adenoma malignum 10.2 STK11 MSH2
44 uterine body mixed cancer 10.2 POLE MSH2 MLH1
45 cell type benign neoplasm 10.2 SMAD4 PTGS2 MUTYH MLH1
46 gastrointestinal system benign neoplasm 10.2 PTGS2 MUTYH MSH2 MLH1
47 uterine corpus cancer 10.2 POLE MSH2 MLH1
48 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 10.2 SMAD4 BMPR1A
49 rectum cancer 10.1 MUTYH MSH2 MLH1
50 duodenum adenocarcinoma 10.1 MSH2 MLH1

Graphical network of the top 20 diseases related to Hereditary Mixed Polyposis Syndrome:



Diseases related to Hereditary Mixed Polyposis Syndrome

Symptoms & Phenotypes for Hereditary Mixed Polyposis Syndrome

Human phenotypes related to Hereditary Mixed Polyposis Syndrome:

58 31 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hematochezia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002573
2 hyperplastic colonic polyposis 58 31 hallmark (90%) Very frequent (99-80%) HP:0012183
3 colon cancer 58 31 frequent (33%) Frequent (79-30%) HP:0003003
4 adenomatous colonic polyposis 58 31 frequent (33%) Frequent (79-30%) HP:0005227
5 colorectal polyposis 58 31 frequent (33%) Frequent (79-30%) HP:0200063
6 refractory anemia 58 31 frequent (33%) Frequent (79-30%) HP:0005505
7 rectal polyposis 58 31 frequent (33%) Frequent (79-30%) HP:0100896
8 juvenile colonic polyposis 58 31 frequent (33%) Frequent (79-30%) HP:0012198
9 adenocarcinoma of the colon 58 31 occasional (7.5%) Occasional (29-5%) HP:0040276
10 intussusception 58 31 occasional (7.5%) Occasional (29-5%) HP:0002576
11 endometrial carcinoma 58 31 very rare (1%) Very rare (<4-1%) HP:0012114
12 thyroid carcinoma 58 31 very rare (1%) Very rare (<4-1%) HP:0002890
13 desmoid tumors 58 31 very rare (1%) Very rare (<4-1%) HP:0100245
14 prostate cancer 58 31 very rare (1%) Very rare (<4-1%) HP:0012125
15 duodenal adenocarcinoma 58 31 very rare (1%) Very rare (<4-1%) HP:0006771
16 neoplasm of the gastrointestinal tract 58 Frequent (79-30%)
17 abnormal bleeding 58 Very frequent (99-80%)
18 neoplasm of the rectum 58 Occasional (29-5%)

GenomeRNAi Phenotypes related to Hereditary Mixed Polyposis Syndrome according to GeneCards Suite gene sharing:

26 (show top 50) (show all 51)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00173-A 10.51 TTK
2 Decreased viability GR00221-A-1 10.51 BMPR1A BUB1B TTK
3 Decreased viability GR00221-A-2 10.51 BMPR1A BUB1B
4 Decreased viability GR00221-A-3 10.51 BMPR1A BUB1B
5 Decreased viability GR00221-A-4 10.51 BMPR1A
6 Decreased viability GR00231-A 10.51 CENPE
7 Decreased viability GR00240-S-1 10.51 STK11
8 Decreased viability GR00249-S 10.51 BMPR1A BUB1 CENPE NDC80 POLE SMAD4
9 Decreased viability GR00301-A 10.51 BUB1 BUB1B MSH2
10 Decreased viability GR00342-S-1 10.51 TTK
11 Decreased viability GR00381-A-1 10.51 TTK
12 Decreased viability GR00386-A-1 10.51 CENPE GREM1 MLH1 NDC80 STK11
13 Decreased viability GR00402-S-2 10.51 CENPE LHFPL5 NDC80
14 Decreased substrate adherent cell growth GR00193-A-1 10.37 BUB1 BUB1B
15 Decreased substrate adherent cell growth GR00193-A-2 10.37 BMPR1A BUB1 TTK BUB1B
16 Decreased substrate adherent cell growth GR00193-A-3 10.37 BMPR1A BUB1
17 Decreased substrate adherent cell growth GR00193-A-4 10.37 BMPR1A BUB1 TTK
18 Increased shRNA abundance (Z-score > 2) GR00366-A-1 10.21 POLE
19 Increased shRNA abundance (Z-score > 2) GR00366-A-10 10.21 BUB1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-105 10.21 BUB1
21 Increased shRNA abundance (Z-score > 2) GR00366-A-106 10.21 BUB1
22 Increased shRNA abundance (Z-score > 2) GR00366-A-123 10.21 POLE
23 Increased shRNA abundance (Z-score > 2) GR00366-A-132 10.21 TTK
24 Increased shRNA abundance (Z-score > 2) GR00366-A-139 10.21 TTK
25 Increased shRNA abundance (Z-score > 2) GR00366-A-166 10.21 BMPR1A
26 Increased shRNA abundance (Z-score > 2) GR00366-A-168 10.21 POLE
27 Increased shRNA abundance (Z-score > 2) GR00366-A-176 10.21 BUB1
28 Increased shRNA abundance (Z-score > 2) GR00366-A-184 10.21 TTK
29 Increased shRNA abundance (Z-score > 2) GR00366-A-192 10.21 BMPR1A
30 Increased shRNA abundance (Z-score > 2) GR00366-A-199 10.21 POLE
31 Increased shRNA abundance (Z-score > 2) GR00366-A-207 10.21 POLE
32 Increased shRNA abundance (Z-score > 2) GR00366-A-214 10.21 BMPR1A
33 Increased shRNA abundance (Z-score > 2) GR00366-A-3 10.21 TTK
34 Increased shRNA abundance (Z-score > 2) GR00366-A-32 10.21 POLE
35 Increased shRNA abundance (Z-score > 2) GR00366-A-33 10.21 BMPR1A
36 Increased shRNA abundance (Z-score > 2) GR00366-A-4 10.21 TTK
37 Increased shRNA abundance (Z-score > 2) GR00366-A-5 10.21 BUB1 TTK
38 Increased shRNA abundance (Z-score > 2) GR00366-A-63 10.21 POLE
39 Increased shRNA abundance (Z-score > 2) GR00366-A-78 10.21 BUB1
40 Increased shRNA abundance (Z-score > 2) GR00366-A-8 10.21 BMPR1A BUB1
41 Increased shRNA abundance (Z-score > 2) GR00366-A-81 10.21 TTK
42 Increased shRNA abundance (Z-score > 2) GR00366-A-82 10.21 BMPR1A
43 Increased shRNA abundance (Z-score > 2) GR00366-A-85 10.21 BMPR1A BUB1 BUB1B POLE TTK
44 Increased shRNA abundance (Z-score > 2) GR00366-A-87 10.21 BUB1 POLE
45 Increased shRNA abundance (Z-score > 2) GR00366-A-89 10.21 TTK
46 Increased shRNA abundance (Z-score > 2) GR00366-A-91 10.21 POLE
47 Increased cell death in breast cancer cell lines (MCF10A, MDA-MB-435) GR00104-A-0 9.56 BMPR1A BUB1B CETN3 MSH2
48 Decreased cell viability after pRB stimulation GR00230-A-1 9.43 BMPR1A BUB1B
49 Decreased mitotic index GR00110-A-0 9.4 BUB1 BUB1B
50 Increased G2M DNA content, increased 8N DNA content GR00098-A-1 8.85 BMPR1A

MGI Mouse Phenotypes related to Hereditary Mixed Polyposis Syndrome:

45 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.36 BMPR1A BUB1 BUB1B CENPE CETN3 GREM1
2 homeostasis/metabolism MP:0005376 10.25 BMPR1A BUB1 BUB1B CENPE GREM1 MLH1
3 hematopoietic system MP:0005397 10.2 BMPR1A BUB1 BUB1B MLH1 MSH2 POLD1
4 mortality/aging MP:0010768 10.16 BMPR1A BUB1 BUB1B CENPE CETN3 GREM1
5 immune system MP:0005387 10.14 BMPR1A BUB1 BUB1B MLH1 MSH2 POLD1
6 embryo MP:0005380 10.08 BMPR1A BUB1B CENPE GREM1 POLD1 PTGS2
7 integument MP:0010771 10.07 BMPR1A BUB1B MLH1 MSH2 POLD1 POLE
8 digestive/alimentary MP:0005381 10.04 BMPR1A BUB1B MLH1 MSH2 PTGS2 SMAD4
9 neoplasm MP:0002006 9.9 BMPR1A BUB1 BUB1B MLH1 MSH2 MUTYH
10 liver/biliary system MP:0005370 9.87 BUB1 BUB1B CENPE PTGS2 SCG5 SMAD4
11 reproductive system MP:0005389 9.7 BMPR1A BUB1 BUB1B CETN3 GREM1 MLH1
12 respiratory system MP:0005388 9.17 BMPR1A BUB1B GREM1 MLH1 PTGS2 SCG5

Drugs & Therapeutics for Hereditary Mixed Polyposis Syndrome

Drugs for Hereditary Mixed Polyposis Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Silicon Approved, Investigational Early Phase 1 7440-21-3 4082203
2 Trace Elements Early Phase 1
3 Acidophilus Early Phase 1
4 Nutrients Early Phase 1
5 Micronutrients Early Phase 1
6 Bifidobacterium Early Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Probiotics for Quality of Life in Autism Spectrum Disorders Completed NCT02903030 Early Phase 1 Maltose (placebo);Visbiome Extra Strength
2 Evaluation of Clinical Perfectionism in Parkinson Disease Active, not recruiting NCT02824367

Search NIH Clinical Center for Hereditary Mixed Polyposis Syndrome

Genetic Tests for Hereditary Mixed Polyposis Syndrome

Genetic tests related to Hereditary Mixed Polyposis Syndrome:

# Genetic test Affiliating Genes
1 Hereditary Mixed Polyposis Syndrome 29

Anatomical Context for Hereditary Mixed Polyposis Syndrome

MalaCards organs/tissues related to Hereditary Mixed Polyposis Syndrome:

40
Colon, Neutrophil, Skin, Thyroid, Prostate, Monocytes, Bone

Publications for Hereditary Mixed Polyposis Syndrome

Articles related to Hereditary Mixed Polyposis Syndrome:

(show top 50) (show all 237)
# Title Authors PMID Year
1
Mapping of hereditary mixed polyposis syndrome (HMPS) to chromosome 10q23 by genomewide high-density single nucleotide polymorphism (SNP) scan and identification of BMPR1A loss of function. 6 61
16525031 2006
2
A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment. 6
25394175 2015
3
Sub-chronic toxicity evaluation of top three commercial herbal antimalarial preparations in the Kumasi metropolis, Ghana. 61
32420605 2020
4
A novel germline BMPR1A variant (c.72_73delGA) in a Japanese family with hereditary mixed polyposis syndrome. 61
32378721 2020
5
Click by Click Microporous Annealed Particle (MAP) Scaffolds. 61
32329234 2020
6
Heparin-mediated delivery of bone morphogenetic protein-2 improves spatial localization of bone regeneration. 61
31922007 2020
7
Heavy Metal Stress-Associated Proteins in Rice and Arabidopsis: Genome-Wide Identification, Phylogenetics, Duplication, and Expression Profiles Analysis. 61
32457808 2020
8
Granular hydrogels: emergent properties of jammed hydrogel microparticles and their applications in tissue repair and regeneration. 61
30481603 2019
9
Standard reference material (SRM) DNA barcode library approach for authenticating Antidesma bunius (L.) Spreng. (bignay) derived herbal medicinal products. 61
31596175 2019
10
Amphiphilic Polypeptoids Rupture Vesicle Bilayers To Form Peptoid-Lipid Fragments Effective in Enhancing Hydrophobic Drug Delivery. 61
31686512 2019
11
Tunable vegetable oil/silica hybrid microparticles for poorly water-soluble drug delivery. 61
31260782 2019
12
PharmActa: Empowering Patients to Avoid Clinical Significant Drug⁻Herb Interactions. 61
30781500 2019
13
Identification of a novel GREM1 duplication in a patient with multiple colon polyps. 61
29804199 2019
14
Assessing product adulteration of Eurycoma longifolia (Tongkat Ali) herbal medicinal product using DNA barcoding and HPLC analysis. 61
30058427 2018
15
Prevalence of drug-herb and drug-supplement interactions in older adults: a cross-sectional survey. 61
30249608 2018
16
Facile preparation of microscale hydrogel particles for high efficiency adsorption of bisphenol A from aqueous solution. 61
30091075 2018
17
Identification of Glutamic Acid as a Host Marking Pheromone of the African Fruit Fly Species Ceratitis rosa (Diptera: Tephritidae). 61
30180560 2018
18
Investigating the target organs of novel anti-diabetic zinc complexes with organo‑selenium ligands. 61
29843022 2018
19
Renal Resistance Trend During Hypothermic Machine Perfusion Is More Predictive of Postoperative Outcome Than Biopsy Score: Preliminary Experience in 35 Consecutive Kidney Transplantations. 61
29602202 2018
20
Do We Need Plant Food Supplements? A Critical Examination of Quality, Safety, Efficacy, and Necessity for a New Regulatory Framework. 61
29220861 2018
21
European regulation model for herbal medicine: The assessment of the EU monograph and the safety and efficacy evaluation in marketing authorization or registration in Member States. 61
29655689 2018
22
Establishment and Validation of an In Vitro Screening Method for Traditional Chinese Medicine-Induced Nephrotoxicity. 61
30050583 2018
23
Health Management Workforce for India in 2030. 61
30177961 2018
24
Anti-Diabetic Effect of Organo-Chalcogen (Sulfur and Selenium) Zinc Complexes with Hydroxy-Pyrone Derivatives on Leptin-Deficient Type 2 Diabetes Model ob/ob Mice. 61
29215553 2017
25
Concurrent Use of Prescription Drugs and Herbal Medicinal Products in Older Adults: A Systematic Review. 61
29196903 2017
26
How Well Do Health-Mediation Programs Address the Determinants of the Poor Health Status of Roma? A Longitudinal Case Study. 61
29236067 2017
27
Exact solution of the hidden Markov processes. 61
29347742 2017
28
HLAMatchmaker is effective for selecting appropriate platelet units for alloimmunised thrombocytopaenic patients who are refractory to random donor platelets. 61
28393455 2017
29
Identification of the Ubiquitous Antioxidant Tripeptide Glutathione as a Fruit Fly Semiochemical. 61
28911226 2017
30
Enhanced in vivo retention of low dose BMP-2 via heparin microparticle delivery does not accelerate bone healing in a critically sized femoral defect. 61
28645809 2017
31
Improving prediction of helix-helix packing in membrane proteins using predicted contact numbers as restraints. 61
28263405 2017
32
Weigh Biomaterials by Quantifying Species-specific DNA with Real-time PCR. 61
28684790 2017
33
Development of screen-printed tryptophan-kynurenine immunosensor for in vitro assay of kynurenine-mediated immunosuppression effect of cancer cells on activated T-cells. 61
27840038 2017
34
Features of Patients With Hereditary Mixed Polyposis Syndrome Caused by Duplication of GREM1 and Implications for Screening and Surveillance. 61
28242209 2017
35
Amphiphilic Polypeptoids Serve as the Connective Glue to Transform Liposomes into Multilamellar Structures with Closely Spaced Bilayers. 61
28248521 2017
36
Assembly of Ultrathin Gold Nanowires into Honeycomb Macroporous Pattern Films with High Transparency and Conductivity. 61
28151636 2017
37
Clinicopathological features of a kindred with SCG5-GREM1-associated hereditary mixed polyposis syndrome. 61
27984123 2017
38
[Measurement of patient safety: a systematic review of the reliability and validity of adverse event detection with record review]. 61
28247837 2017
39
Review: DNA Barcoding and Chromatography Fingerprints for the Authentication of Botanicals in Herbal Medicinal Products. 61
28536641 2017
40
CYP2R1 polymorphisms are important modulators of circulating 25-hydroxyvitamin D levels in elderly females with vitamin insufficiency, but not of the response to vitamin D supplementation. 61
27473187 2017
41
How Health in All Policies are developed and implemented in a developing country? A case study of a HiAP initiative in Iran. 61
26092852 2016
42
The determinants of the propensity to receive publicly funded home care services for the elderly in Canada: a panel two-stage residual inclusion approach. 61
26914355 2016
43
DNA Barcoding of Philippine Herbal Medicinal Products. 61
27653702 2016
44
Measurement of patient safety: a systematic review of the reliability and validity of adverse event detection with record review. 61
27550650 2016
45
Three Dimensional Multipod Superstructure based on Cu(OH)2 as a Highly Efficient Nanozyme. 61
27429756 2016
46
Effect of commercial cleansers on skin barrier permeability. 61
26094702 2016
47
Concurrent use of prescription drugs and herbal medicinal products in older adults: a systematic review protocol. 61
27098011 2016
48
Hydrophobically modified inulin as an amphiphilic carbohydrate polymer for micellar delivery of paclitaxel for intravenous route. 61
26792170 2016
49
Can Psychological Interventions Reduce Perfectionism? A Systematic Review and Meta-analysis. 61
26393777 2015
50
Current status of familial gastrointestinal polyposis syndromes. 61
26600934 2015

Variations for Hereditary Mixed Polyposis Syndrome

ClinVar genetic disease variations for Hereditary Mixed Polyposis Syndrome:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SCG5 NM_001144757.2(SCG5):c.532C>T (p.Arg178Ter)SNV Uncertain significance 374976 rs200799739 15:32983953-32983953 15:32691752-32691752
2 GREM1 NM_013372.7(GREM1):c.169A>C (p.Asn57His)SNV Uncertain significance 375861 rs754206331 15:33023060-33023060 15:32730859-32730859

Expression for Hereditary Mixed Polyposis Syndrome

Search GEO for disease gene expression data for Hereditary Mixed Polyposis Syndrome.

Pathways for Hereditary Mixed Polyposis Syndrome

Pathways related to Hereditary Mixed Polyposis Syndrome according to KEGG:

36
# Name Kegg Source Accession
1 Cytokine-cytokine receptor interaction hsa04060
2 TGF-beta signaling pathway hsa04350

Pathways related to Hereditary Mixed Polyposis Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.18 POLE POLD1 NDC80 MLH1 CENPE BUB1B
2 12.06 TTK SMAD4 BUB1B BUB1
3 11.84 SMAD4 PTGS2 MSH2 MLH1
4 11.75 STK11 SMAD4 MSH2 BMPR1A
5 11.61 SMAD4 GREM1 BMPR1A
6 11.57 TTK MUTYH MSH2 MLH1 CENPE BUB1B
7
Show member pathways
11.5 SMAD4 GREM1 BMPR1A
8
Show member pathways
11.43 POLE POLD1 MSH2 MLH1
9
Show member pathways
11.4 SMAD4 GREM1 BMPR1A
10
Show member pathways
10.97 NDC80 CENPE BUB1B BUB1

GO Terms for Hereditary Mixed Polyposis Syndrome

Cellular components related to Hereditary Mixed Polyposis Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 10.25 TTK STK11 SMAD4 SCG5 POLE POLD1
2 chromosome GO:0005694 9.73 NDC80 MSH2 MLH1 CENPE BUB1B BUB1
3 chromosome, centromeric region GO:0000775 9.67 NDC80 CENPE BUB1B BUB1
4 condensed chromosome kinetochore GO:0000777 9.46 NDC80 CENPE BUB1B BUB1
5 mismatch repair complex GO:0032300 9.43 MSH2 MLH1
6 condensed nuclear chromosome outer kinetochore GO:0000942 9.32 NDC80 BUB1
7 condensed nuclear chromosome kinetochore GO:0000778 9.13 NDC80 BUB1B BUB1
8 kinetochore GO:0000776 9.02 TTK NDC80 CENPE BUB1B BUB1

Biological processes related to Hereditary Mixed Polyposis Syndrome according to GeneCards Suite gene sharing:

(show all 27)
# Name GO ID Score Top Affiliating Genes
1 protein phosphorylation GO:0006468 10.03 TTK STK11 BUB1B BUB1 BMPR1A
2 cell division GO:0051301 9.97 NDC80 CETN3 CENPE BUB1B BUB1
3 DNA repair GO:0006281 9.96 POLE POLD1 MUTYH MSH2 MLH1
4 cellular response to DNA damage stimulus GO:0006974 9.88 STK11 POLE POLD1 MUTYH MSH2 MLH1
5 mitotic cell cycle GO:0000278 9.78 POLE NDC80 CENPE BUB1B
6 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.69 TTK SMAD4 BMPR1A
7 mitotic spindle organization GO:0007052 9.67 TTK NDC80 CENPE
8 isotype switching GO:0045190 9.63 MSH2 MLH1
9 somatic hypermutation of immunoglobulin genes GO:0016446 9.62 MSH2 MLH1
10 positive regulation of SMAD protein signal transduction GO:0060391 9.62 SMAD4 BMPR1A
11 metaphase plate congression GO:0051310 9.61 NDC80 CENPE
12 DNA synthesis involved in DNA repair GO:0000731 9.61 POLE POLD1
13 mitotic cell cycle checkpoint GO:0007093 9.61 TTK BUB1B BUB1
14 attachment of mitotic spindle microtubules to kinetochore GO:0051315 9.6 NDC80 CENPE
15 positive regulation of isotype switching to IgG isotypes GO:0048304 9.59 MSH2 MLH1
16 mesendoderm development GO:0048382 9.58 SMAD4 BMPR1A
17 base-excision repair, gap-filling GO:0006287 9.57 POLE POLD1
18 meiotic sister chromatid cohesion, centromeric GO:0051754 9.55 BUB1B BUB1
19 positive regulation of isotype switching to IgA isotypes GO:0048298 9.54 MSH2 MLH1
20 somatic recombination of immunoglobulin gene segments GO:0016447 9.52 MSH2 MLH1
21 cell cycle GO:0007049 9.5 STK11 NDC80 MLH1 CETN3 CENPE BUB1B
22 female meiosis chromosome segregation GO:0016321 9.46 TTK MLH1
23 chromosome segregation GO:0007059 9.46 TTK NDC80 CENPE BUB1
24 mitotic spindle assembly checkpoint GO:0007094 9.43 TTK BUB1B BUB1
25 DNA replication proofreading GO:0045004 9.37 POLE POLD1
26 somatic recombination of immunoglobulin genes involved in immune response GO:0002204 9.32 MSH2 MLH1
27 mismatch repair GO:0006298 8.92 POLD1 MUTYH MSH2 MLH1

Molecular functions related to Hereditary Mixed Polyposis Syndrome according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 10.13 TTK STK11 PTGS2 POLE POLD1 BUB1B
2 protein kinase activity GO:0004672 9.95 TTK STK11 BUB1B BUB1 BMPR1A
3 ATP binding GO:0005524 9.92 TTK STK11 MSH2 MLH1 CENPE BUB1B
4 chromatin binding GO:0003682 9.91 SMAD4 POLE POLD1 MSH2 MLH1
5 protein serine/threonine kinase activity GO:0004674 9.77 TTK STK11 BUB1B BUB1 BMPR1A
6 iron-sulfur cluster binding GO:0051536 9.67 POLE POLD1 MUTYH
7 nucleotide binding GO:0000166 9.65 TTK STK11 POLE POLD1 MSH2 MLH1
8 protein binding GO:0005515 9.62 TTK STK11 SMAD4 SCG5 RHPN2 PTGS2
9 mismatched DNA binding GO:0030983 9.54 MSH2 MLH1
10 kinetochore binding GO:0043515 9.48 TTK CENPE
11 MutSalpha complex binding GO:0032407 9.46 MUTYH MLH1
12 MutLalpha complex binding GO:0032405 9.43 MUTYH MSH2
13 4 iron, 4 sulfur cluster binding GO:0051539 9.43 POLE POLD1 MUTYH
14 oxidized purine DNA binding GO:0032357 9.4 MUTYH MSH2
15 guanine/thymine mispair binding GO:0032137 9.16 MSH2 MLH1

Sources for Hereditary Mixed Polyposis Syndrome

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
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