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Hereditary mixed polyposis syndrome

MedGen UID:
1672870
Concept ID:
C5192681
Disease or Syndrome
Synonym: Hereditary Mixed Polyposis
SNOMED CT: Hereditary mixed polyposis syndrome (787410005); HMPS - hereditary mixed polyposis syndrome (787410005)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Monarch Initiative: MONDO:0011023
OMIM® Phenotypic series: PS601228
Orphanet: ORPHA157794

Definition

Hereditary mixed polyposis syndrome (HMPS) describes an autosomal dominantly inherited large-bowel disease with characteristics of the presence of a mixture of hyperplastic, atypical juvenile and adenomatous polyps that are associated with an increased risk of developing colorectal cancer if left untreated. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHereditary mixed polyposis syndrome

Professional guidelines

PubMed

Boland CR, Idos GE, Durno C, Giardiello FM, Anderson JC, Burke CA, Dominitz JA, Gross S, Gupta S, Jacobson BC, Patel SG, Shaukat A, Syngal S, Robertson DJ
Gastroenterology 2022 Jun;162(7):2063-2085. Epub 2022 Apr 26 doi: 10.1053/j.gastro.2022.02.021. PMID: 35487791
Boland CR, Idos GE, Durno C, Giardiello FM, Anderson JC, Burke CA, Dominitz JA, Gross S, Gupta S, Jacobson BC, Patel SG, Shaukat A, Syngal S, Robertson DJ
Gastrointest Endosc 2022 Jun;95(6):1025-1047. Epub 2022 Apr 26 doi: 10.1016/j.gie.2022.02.044. PMID: 35487765
Boland CR, Idos GE, Durno C, Giardiello FM, Anderson JC, Burke CA, Dominitz JA, Gross S, Gupta S, Jacobson BC, Patel SG, Shaukat A, Syngal S, Robertson DJ
Am J Gastroenterol 2022 Jun 1;117(6):846-864. Epub 2022 Apr 26 doi: 10.14309/ajg.0000000000001755. PMID: 35471415

Suggested Reading

Recent clinical studies

Etiology

Liu S, Ma Y, You W, Li J, Li JN, Qian JM
J Dig Dis 2021 Aug;22(8):444-451. Epub 2021 Jul 8 doi: 10.1111/1751-2980.13029. PMID: 34145757
Jelsig AM, Qvist N, Brusgaard K, Nielsen CB, Hansen TP, Ousager LB
Orphanet J Rare Dis 2014 Jul 15;9:101. doi: 10.1186/1750-1172-9-101. PMID: 25022750Free PMC Article
Chen HM, Fang JY
Int J Colorectal Dis 2009 Aug;24(8):865-74. Epub 2009 Apr 21 doi: 10.1007/s00384-009-0714-2. PMID: 19381654
Calva D, Howe JR
Surg Clin North Am 2008 Aug;88(4):779-817, vii. doi: 10.1016/j.suc.2008.05.002. PMID: 18672141Free PMC Article
Jass JR
Pathol Res Pract 2008;204(7):431-47. Epub 2008 Jun 9 doi: 10.1016/j.prp.2008.03.008. PMID: 18541388

Diagnosis

Boland CR, Idos GE, Durno C, Giardiello FM, Anderson JC, Burke CA, Dominitz JA, Gross S, Gupta S, Jacobson BC, Patel SG, Shaukat A, Syngal S, Robertson DJ
Gastroenterology 2022 Jun;162(7):2063-2085. Epub 2022 Apr 26 doi: 10.1053/j.gastro.2022.02.021. PMID: 35487791
Boland CR, Idos GE, Durno C, Giardiello FM, Anderson JC, Burke CA, Dominitz JA, Gross S, Gupta S, Jacobson BC, Patel SG, Shaukat A, Syngal S, Robertson DJ
Gastrointest Endosc 2022 Jun;95(6):1025-1047. Epub 2022 Apr 26 doi: 10.1016/j.gie.2022.02.044. PMID: 35487765
Boland CR, Idos GE, Durno C, Giardiello FM, Anderson JC, Burke CA, Dominitz JA, Gross S, Gupta S, Jacobson BC, Patel SG, Shaukat A, Syngal S, Robertson DJ
Am J Gastroenterol 2022 Jun 1;117(6):846-864. Epub 2022 Apr 26 doi: 10.14309/ajg.0000000000001755. PMID: 35471415
Jelsig AM, Qvist N, Brusgaard K, Nielsen CB, Hansen TP, Ousager LB
Orphanet J Rare Dis 2014 Jul 15;9:101. doi: 10.1186/1750-1172-9-101. PMID: 25022750Free PMC Article
Calva D, Howe JR
Surg Clin North Am 2008 Aug;88(4):779-817, vii. doi: 10.1016/j.suc.2008.05.002. PMID: 18672141Free PMC Article

Prognosis

Boland CR, Idos GE, Durno C, Giardiello FM, Anderson JC, Burke CA, Dominitz JA, Gross S, Gupta S, Jacobson BC, Patel SG, Shaukat A, Syngal S, Robertson DJ
Gastroenterology 2022 Jun;162(7):2063-2085. Epub 2022 Apr 26 doi: 10.1053/j.gastro.2022.02.021. PMID: 35487791
Boland CR, Idos GE, Durno C, Giardiello FM, Anderson JC, Burke CA, Dominitz JA, Gross S, Gupta S, Jacobson BC, Patel SG, Shaukat A, Syngal S, Robertson DJ
Am J Gastroenterol 2022 Jun 1;117(6):846-864. Epub 2022 Apr 26 doi: 10.14309/ajg.0000000000001755. PMID: 35471415
Chew MH, Tan WS, Liu Y, Cheah PY, Loi CT, Tang CL
Ann Acad Med Singap 2015 Aug;44(8):290-6. PMID: 26477961
Chen HM, Fang JY
Int J Colorectal Dis 2009 Aug;24(8):865-74. Epub 2009 Apr 21 doi: 10.1007/s00384-009-0714-2. PMID: 19381654
Calva D, Howe JR
Surg Clin North Am 2008 Aug;88(4):779-817, vii. doi: 10.1016/j.suc.2008.05.002. PMID: 18672141Free PMC Article

Clinical prediction guides

Kim JC, Bodmer WF
J Cancer Res Clin Oncol 2022 Mar;148(3):533-545. Epub 2022 Jan 20 doi: 10.1007/s00432-021-03888-w. PMID: 35048197
Chew MH, Tan WS, Liu Y, Cheah PY, Loi CT, Tang CL
Ann Acad Med Singap 2015 Aug;44(8):290-6. PMID: 26477961
Clendenning M, Young JP, Walsh MD, Woodall S, Arnold J, Jenkins M, Win AK, Hopper JL, Sweet K, Gallinger S, Rosty C, Parry S, Buchanan DD
PLoS One 2013;8(6):e66705. Epub 2013 Jun 21 doi: 10.1371/journal.pone.0066705. PMID: 23805267Free PMC Article
Jaeger E, Leedham S, Lewis A, Segditsas S, Becker M, Cuadrado PR, Davis H, Kaur K, Heinimann K, Howarth K; HMPS Collaboration, East J, Taylor J, Thomas H, Tomlinson I
Nat Genet 2012 May 6;44(6):699-703. doi: 10.1038/ng.2263. PMID: 22561515Free PMC Article
Baglioni S, Genuardi M
Am J Med Genet C Semin Med Genet 2004 Aug 15;129C(1):35-43. doi: 10.1002/ajmg.c.30023. PMID: 15264271

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