HMPS
MCID: HRD144
MIFTS: 39

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 58 36 6
Hereditary Mixed Polyposis 6
Hmps 58

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 hereditary mixed polyposis, is related to polyposis syndrome, hereditary mixed, 1 and colorectal adenoma. 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 Nutrients have been mentioned in the context of this disorder. Affiliated tissues include colon, thyroid and neutrophil, and related phenotypes are adenomatous colonic polyposis and hematochezia

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 all 43)
# Related Disease Score Top Affiliating Genes
1 polyposis syndrome, hereditary mixed, 1 32.3 SCG5 PTGS2 GREM1
2 colorectal adenoma 29.1 PTGS2 GREM1
3 juvenile polyposis syndrome 28.9 PTGS2 GREM1 BMPR1A
4 polyposis syndrome, hereditary mixed, 2 11.9
5 adenoma 10.4
6 pulmonary disease, chronic obstructive 10.2
7 colorectal cancer 10.1
8 lynch syndrome 10.1
9 apc-associated polyposis conditions 10.1
10 mutyh polyposis 10.1
11 down syndrome 10.1
12 ocular motor apraxia 10.1
13 myocardial infarction 10.1
14 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 10.1
15 angina pectoris 10.1
16 metabolic acidosis 10.1
17 autosomal recessive cerebellar ataxia 10.1
18 chlamydia 10.1
19 hepatorenal syndrome 10.1
20 hepatic coma 10.1
21 typhoid fever 10.1
22 hepatic encephalopathy 10.1
23 chromosomal triplication 10.1
24 granulocytopenia 10.1
25 mercury poisoning 10.1
26 neonatal stroke 10.1
27 peutz-jeghers syndrome 9.9
28 thyroid cancer, nonmedullary, 1 9.9
29 wilms tumor 5 9.9
30 familial adenomatous polyposis 9.9
31 diarrhea 9.9
32 thyroid gland papillary carcinoma 9.9
33 familial colorectal cancer 9.9
34 posttransplant acute limbic encephalitis 9.9
35 thyroid carcinoma 9.9
36 hypogonadism 9.9
37 hypogonadotropism 9.9
38 chromosome 2q35 duplication syndrome 9.7 GREM1 BMPR1A
39 cowden syndrome 9.5 GREM1 BMPR1A
40 orofacial cleft 9.4 GREM1 BMPR1A
41 large intestine lipoma 9.4 SCG5 GREM1 BMPR1A
42 lipoma of colon 9.4 SCG5 GREM1 BMPR1A
43 pulmonary hypertension 9.1 PTGS2 GREM1 BMPR1A

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

MGI Mouse Phenotypes related to Hereditary Mixed Polyposis Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.46 BMPR1A GREM1 PTGS2 SCG5
2 reproductive system MP:0005389 9.26 BMPR1A GREM1 PTGS2 SCG5
3 respiratory system MP:0005388 8.92 BMPR1A GREM1 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 Nutrients Early Phase 1
3 Trace Elements Early Phase 1
4 Bifidobacterium Early Phase 1
5 Micronutrients Early Phase 1
6 Acidophilus 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

Anatomical Context for Hereditary Mixed Polyposis Syndrome

MalaCards organs/tissues related to Hereditary Mixed Polyposis Syndrome:

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

Publications for Hereditary Mixed Polyposis Syndrome

Articles related to Hereditary Mixed Polyposis Syndrome:

(show top 50) (show all 233)
# 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. 61 6
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
Heparin-mediated delivery of bone morphogenetic protein-2 improves spatial localization of bone regeneration. 61
31922007 2020
4
Granular hydrogels: emergent properties of jammed hydrogel microparticles and their applications in tissue repair and regeneration. 61
30481603 2019
5
Standard reference material (SRM) DNA barcode library approach for authenticating Antidesma bunius (L.) Spreng. (bignay) derived herbal medicinal products. 61
31596175 2019
6
Amphiphilic Polypeptoids Rupture Vesicle Bilayers To Form Peptoid-Lipid Fragments Effective in Enhancing Hydrophobic Drug Delivery. 61
31686512 2019
7
Tunable vegetable oil/silica hybrid microparticles for poorly water-soluble drug delivery. 61
31260782 2019
8
PharmActa: Empowering Patients to Avoid Clinical Significant Drug⁻Herb Interactions. 61
30781500 2019
9
Identification of a novel GREM1 duplication in a patient with multiple colon polyps. 61
29804199 2019
10
Assessing product adulteration of Eurycoma longifolia (Tongkat Ali) herbal medicinal product using DNA barcoding and HPLC analysis. 61
30058427 2018
11
Prevalence of drug-herb and drug-supplement interactions in older adults: a cross-sectional survey. 61
30249608 2018
12
Facile preparation of microscale hydrogel particles for high efficiency adsorption of bisphenol A from aqueous solution. 61
30091075 2018
13
Identification of Glutamic Acid as a Host Marking Pheromone of the African Fruit Fly Species Ceratitis rosa (Diptera: Tephritidae). 61
30180560 2018
14
Investigating the target organs of novel anti-diabetic zinc complexes with organo‑selenium ligands. 61
29843022 2018
15
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
16
Do We Need Plant Food Supplements? A Critical Examination of Quality, Safety, Efficacy, and Necessity for a New Regulatory Framework. 61
29220861 2018
17
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
18
Establishment and Validation of an In Vitro Screening Method for Traditional Chinese Medicine-Induced Nephrotoxicity. 61
30050583 2018
19
Health Management Workforce for India in 2030. 61
30177961 2018
20
How Well Do Health-Mediation Programs Address the Determinants of the Poor Health Status of Roma? A Longitudinal Case Study. 61
29236067 2017
21
Concurrent Use of Prescription Drugs and Herbal Medicinal Products in Older Adults: A Systematic Review. 61
29196903 2017
22
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
23
Exact solution of the hidden Markov processes. 61
29347742 2017
24
HLAMatchmaker is effective for selecting appropriate platelet units for alloimmunised thrombocytopaenic patients who are refractory to random donor platelets. 61
28393455 2017
25
Identification of the Ubiquitous Antioxidant Tripeptide Glutathione as a Fruit Fly Semiochemical. 61
28911226 2017
26
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
27
Improving prediction of helix-helix packing in membrane proteins using predicted contact numbers as restraints. 61
28263405 2017
28
Weigh Biomaterials by Quantifying Species-specific DNA with Real-time PCR. 61
28684790 2017
29
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
30
Features of Patients With Hereditary Mixed Polyposis Syndrome Caused by Duplication of GREM1 and Implications for Screening and Surveillance. 61
28242209 2017
31
Amphiphilic Polypeptoids Serve as the Connective Glue to Transform Liposomes into Multilamellar Structures with Closely Spaced Bilayers. 61
28248521 2017
32
Assembly of Ultrathin Gold Nanowires into Honeycomb Macroporous Pattern Films with High Transparency and Conductivity. 61
28151636 2017
33
Clinicopathological features of a kindred with SCG5-GREM1-associated hereditary mixed polyposis syndrome. 61
27984123 2017
34
Review: DNA Barcoding and Chromatography Fingerprints for the Authentication of Botanicals in Herbal Medicinal Products. 61
28536641 2017
35
[Measurement of patient safety: a systematic review of the reliability and validity of adverse event detection with record review]. 61
28247837 2017
36
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
37
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
38
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
39
DNA Barcoding of Philippine Herbal Medicinal Products. 61
27653702 2016
40
Measurement of patient safety: a systematic review of the reliability and validity of adverse event detection with record review. 61
27550650 2016
41
Three Dimensional Multipod Superstructure based on Cu(OH)2 as a Highly Efficient Nanozyme. 61
27429756 2016
42
Effect of commercial cleansers on skin barrier permeability. 61
26094702 2016
43
Concurrent use of prescription drugs and herbal medicinal products in older adults: a systematic review protocol. 61
27098011 2016
44
Hydrophobically modified inulin as an amphiphilic carbohydrate polymer for micellar delivery of paclitaxel for intravenous route. 61
26792170 2016
45
Can Psychological Interventions Reduce Perfectionism? A Systematic Review and Meta-analysis. 61
26393777 2015
46
Current status of familial gastrointestinal polyposis syndromes. 61
26600934 2015
47
Tolerance of fragranced and fragrance-free facial cleansers in adults with clinically sensitive skin. 61
26682289 2015
48
Genomics of Hereditary Colorectal Cancer: Lessons Learnt from 25 Years of the Singapore Polyposis Registry. 61
26477961 2015
49
Search for Antiprotozoal Activity in Herbal Medicinal Preparations; New Natural Leads against Neglected Tropical Diseases. 61
26248069 2015
50
Self-assembled organic hexagonal micro-prisms with high second harmonic generation efficiency for photonic devices. 61
25987364 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

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 caveola GO:0005901 8.62 PTGS2 BMPR1A

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

# Name GO ID Score Top Affiliating Genes
1 angiogenesis GO:0001525 8.62 PTGS2 GREM1

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

# Name GO ID Score Top Affiliating Genes
1 protein homodimerization activity GO:0042803 8.8 PTGS2 GREM1 BMPR1A

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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