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Juvenile polyposis of infancy

MedGen UID:
1778573
Concept ID:
C5445164
Neoplastic Process
Synonym: JUVENILE POLYPOSIS, INFANTILE
SNOMED CT: Juvenile polyposis of infancy (1156799009)
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.
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
Monarch Initiative: MONDO:0019190
Orphanet: ORPHA79076

Definition

Juvenile polyposis of infancy (JPI) is the most severe form of juvenile gastrointestinal polyposis (see this term) and is characterized by pancolonic hamartomatous polyposis from stomach to rectum, diagnosed in the first two years of life. [from ORDO]

Professional guidelines

PubMed

Rebuzzi F, Ulivi P, Tedaldi G
Int J Mol Sci 2023 Jan 21;24(3) doi: 10.3390/ijms24032137. PMID: 36768460Free PMC Article
Monahan KJ, Bradshaw N, Dolwani S, Desouza B, Dunlop MG, East JE, Ilyas M, Kaur A, Lalloo F, Latchford A, Rutter MD, Tomlinson I, Thomas HJW, Hill J; Hereditary CRC guidelines eDelphi consensus group
Gut 2020 Mar;69(3):411-444. Epub 2019 Nov 28 doi: 10.1136/gutjnl-2019-319915. PMID: 31780574Free PMC Article
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

Recent clinical studies

Therapy

Xiao P, Zhang T, Wang Y, Xiao Y, Li X, Wang R, Li Y, Song T
BMC Pediatr 2024 Aug 23;24(1):544. doi: 10.1186/s12887-024-04994-7. PMID: 39180038Free PMC Article
Busoni VB, Orsi M, Lobos PA, D'Agostino D, Wagener M, De la Iglesia P, Fox VL
Pediatrics 2019 Aug;144(2) doi: 10.1542/peds.2018-2922. PMID: 31366686
Vargas-González R, de la Torre-Mondragón L, Aparicio-Rodríguez JM, Paniagua-Morgan F, López-Hernández G, Garrido-Hernández MA, Nuñez-Barrera S
Pediatr Dev Pathol 2010 Nov-Dec;13(6):486-91. Epub 2010 Mar 24 doi: 10.2350/10-01-0791-CR.1. PMID: 20334546

Prognosis

Xiao P, Zhang T, Wang Y, Xiao Y, Li X, Wang R, Li Y, Song T
BMC Pediatr 2024 Aug 23;24(1):544. doi: 10.1186/s12887-024-04994-7. PMID: 39180038Free PMC Article
Busoni VB, Orsi M, Lobos PA, D'Agostino D, Wagener M, De la Iglesia P, Fox VL
Pediatrics 2019 Aug;144(2) doi: 10.1542/peds.2018-2922. PMID: 31366686
Oliveira PH, Cunha C, Almeida S, Ferreira R, Maia S, Saraiva JM, Lopes MF
J Pediatr Surg 2013 Jan;48(1):e33-7. doi: 10.1016/j.jpedsurg.2012.09.067. PMID: 23331837
Vargas-González R, de la Torre-Mondragón L, Aparicio-Rodríguez JM, Paniagua-Morgan F, López-Hernández G, Garrido-Hernández MA, Nuñez-Barrera S
Pediatr Dev Pathol 2010 Nov-Dec;13(6):486-91. Epub 2010 Mar 24 doi: 10.2350/10-01-0791-CR.1. PMID: 20334546

Supplemental Content

Table of contents

    Clinical resources

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