U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Hyperplastic polyposis syndrome

MedGen UID:
1645454
Concept ID:
C4296896
Neoplastic Process
Synonyms: Colorectal Serrated Polyposis; Colorectal Serrated Polyposis Syndrome; Hyperplastic Polyposis Syndrome; hyperplastic polyposis syndrome; Serrated polyposis; serrated polyposis; Serrated polyposis syndrome
SNOMED CT: Serrated polyposis (763536006); Hyperplastic polyposis syndrome (763536006)
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.
Non-Mendelian inheritance
MedGen UID:
109109
Concept ID:
C0600599
Genetic Function
Source: Orphanet
A mode of inheritance that depends on genetic determinants in more than one gene.
Unknown inheritance
MedGen UID:
989040
Concept ID:
CN307042
Finding
Source: Orphanet
Hereditary clinical entity whose mode of inheritance is unknown.
 
Monarch Initiative: MONDO:0015524
Orphanet: ORPHA157798

Definition

A rare genetic intestinal disease with the presence of multiple (usually large) hyperplastic/serrated colorectal polyps, usually with a pancolonic distribution. Histology reveals hyperplastic polyps, sessile serrated adenomas (most common), traditional serrated adenomas or mixed polyps. It is associated with an increased personal and familial (first-degree relatives) risk of colorectal cancer. There is evidence this disease is caused by heterozygous mutation in the RNF43 gene on chromosome 17q22. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHyperplastic polyposis syndrome

Professional guidelines

PubMed

Syngal S, Brand RE, Church JM, Giardiello FM, Hampel HL, Burt RW; American College of Gastroenterology
Am J Gastroenterol 2015 Feb;110(2):223-62; quiz 263. Epub 2015 Feb 3 doi: 10.1038/ajg.2014.435. PMID: 25645574Free PMC Article
East JE, Saunders BP, Jass JR
Gastroenterol Clin North Am 2008 Mar;37(1):25-46, v. doi: 10.1016/j.gtc.2007.12.014. PMID: 18313538

Recent clinical studies

Etiology

Syngal S, Brand RE, Church JM, Giardiello FM, Hampel HL, Burt RW; American College of Gastroenterology
Am J Gastroenterol 2015 Feb;110(2):223-62; quiz 263. Epub 2015 Feb 3 doi: 10.1038/ajg.2014.435. PMID: 25645574Free PMC Article
Muzaffar M, Irlam J, Mohamed I
Hematol Oncol Stem Cell Ther 2011;4(3):136-7. doi: 10.5144/1658-3876.2011.136. PMID: 21982888
Kalady MF, Jarrar A, Leach B, LaGuardia L, O'Malley M, Eng C, Church JM
Dis Colon Rectum 2011 Feb;54(2):164-70. doi: 10.1007/DCR.0b013e3181fd4c15. PMID: 21228663
Jass JR
Pathol Res Pract 2008;204(7):431-47. Epub 2008 Jun 9 doi: 10.1016/j.prp.2008.03.008. PMID: 18541388
Carvajal-Carmona LG, Howarth KM, Lockett M, Polanco-Echeverry GM, Volikos E, Gorman M, Barclay E, Martin L, Jones AM, Saunders B, Guenther T, Donaldson A, Paterson J, Frayling I, Novelli MR, Phillips R, Thomas HJ, Silver A, Atkin W, Tomlinson IP
J Pathol 2007 Aug;212(4):378-85. doi: 10.1002/path.2187. PMID: 17503413

Diagnosis

Syngal S, Brand RE, Church JM, Giardiello FM, Hampel HL, Burt RW; American College of Gastroenterology
Am J Gastroenterol 2015 Feb;110(2):223-62; quiz 263. Epub 2015 Feb 3 doi: 10.1038/ajg.2014.435. PMID: 25645574Free PMC Article
Muzaffar M, Irlam J, Mohamed I
Hematol Oncol Stem Cell Ther 2011;4(3):136-7. doi: 10.5144/1658-3876.2011.136. PMID: 21982888
Kalady MF, Jarrar A, Leach B, LaGuardia L, O'Malley M, Eng C, Church JM
Dis Colon Rectum 2011 Feb;54(2):164-70. doi: 10.1007/DCR.0b013e3181fd4c15. PMID: 21228663
East JE, Saunders BP, Jass JR
Gastroenterol Clin North Am 2008 Mar;37(1):25-46, v. doi: 10.1016/j.gtc.2007.12.014. PMID: 18313538
Chow E, Lipton L, Lynch E, D'Souza R, Aragona C, Hodgkin L, Brown G, Winship I, Barker M, Buchanan D, Cowie S, Nasioulas S, du Sart D, Young J, Leggett B, Jass J, Macrae F
Gastroenterology 2006 Jul;131(1):30-9. doi: 10.1053/j.gastro.2006.03.046. PMID: 16831587

Therapy

Boparai KS, van den Broek FJ, van Eeden S, Fockens P, Dekker E
Endoscopy 2011 Aug;43(8):676-82. Epub 2011 Aug 2 doi: 10.1055/s-0030-1256447. PMID: 21811939
Walker RG, Landmann JK, Hewett DG, Worthley DL, Buttenshaw RL, Knight N, Webb PM, Whiteman DC, Whitehall VL, Leggett BA
Am J Gastroenterol 2010 Jul;105(7):1642-7. Epub 2010 Feb 2 doi: 10.1038/ajg.2009.757. PMID: 20125129

Prognosis

Syngal S, Brand RE, Church JM, Giardiello FM, Hampel HL, Burt RW; American College of Gastroenterology
Am J Gastroenterol 2015 Feb;110(2):223-62; quiz 263. Epub 2015 Feb 3 doi: 10.1038/ajg.2014.435. PMID: 25645574Free PMC Article
Caetano AC, Ferreira H, Soares J, Ferreira A, Gonçalves R, Rolanda C
Scand J Gastroenterol 2013 Oct;48(10):1166-72. doi: 10.3109/00365521.2013.830329. PMID: 24047395
Boparai KS, Mathus-Vliegen EM, Koornstra JJ, Nagengast FM, van Leerdam M, van Noesel CJ, Houben M, Cats A, van Hest LP, Fockens P, Dekker E
Gut 2010 Aug;59(8):1094-100. Epub 2009 Aug 25 doi: 10.1136/gut.2009.185884. PMID: 19710031
East JE, Saunders BP, Jass JR
Gastroenterol Clin North Am 2008 Mar;37(1):25-46, v. doi: 10.1016/j.gtc.2007.12.014. PMID: 18313538

Clinical prediction guides

Syngal S, Brand RE, Church JM, Giardiello FM, Hampel HL, Burt RW; American College of Gastroenterology
Am J Gastroenterol 2015 Feb;110(2):223-62; quiz 263. Epub 2015 Feb 3 doi: 10.1038/ajg.2014.435. PMID: 25645574Free PMC Article
Drini M, Wong NC, Scott HS, Craig JM, Dobrovic A, Hewitt CA, Dow C, Young JP, Jenkins MA, Saffery R, Macrae FA
PLoS One 2011 Feb 10;6(2):e16831. doi: 10.1371/journal.pone.0016831. PMID: 21347319Free PMC Article
Walker RG, Landmann JK, Hewett DG, Worthley DL, Buttenshaw RL, Knight N, Webb PM, Whiteman DC, Whitehall VL, Leggett BA
Am J Gastroenterol 2010 Jul;105(7):1642-7. Epub 2010 Feb 2 doi: 10.1038/ajg.2009.757. PMID: 20125129
Young J, Jenkins M, Parry S, Young B, Nancarrow D, English D, Giles G, Jass J
Gut 2007 Oct;56(10):1453-9. Epub 2007 Jun 12 doi: 10.1136/gut.2007.126870. PMID: 17566021Free PMC Article
Carvajal-Carmona LG, Howarth KM, Lockett M, Polanco-Echeverry GM, Volikos E, Gorman M, Barclay E, Martin L, Jones AM, Saunders B, Guenther T, Donaldson A, Paterson J, Frayling I, Novelli MR, Phillips R, Thomas HJ, Silver A, Atkin W, Tomlinson IP
J Pathol 2007 Aug;212(4):378-85. doi: 10.1002/path.2187. PMID: 17503413

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...