Details of Disease

General Information of Disease (ID: DISBPSLH)

Disease Name Juvenile polyposis syndrome
Synonyms
polyposis familial of entire gastrointestinal tract; PJI; polyposis juvenile intestinal; juvenile polyposis; JIP; juvenile intestinal polyposis; jPS; juvenile gastrointestinal polyposis; polyposis, juvenile intestinal; juvenile polyposis syndrome; juvenile multiple polyps syndrome
Definition Juvenile gastrointestinal polyposis (JIP) is a rare condition characterized by the presence of juvenile hamartomatous polyps in the gastrointestinal (GI) tract.
Disease Hierarchy
DISFZFI4: Intestinal polyposis syndrome
DIS7JDYJ: Gastrointestinal disease
DISBPSLH: Juvenile polyposis syndrome
Disease Identifiers
MONDO ID
MONDO_0017380
MESH ID
C537702
UMLS CUI
C0345893
OMIM ID
174900
MedGen ID
87518
Orphanet ID
2929
SNOMED CT ID
9273005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 5 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
ENG TTB30LE Limited Autosomal dominant [1]
ENG TTB30LE Limited Biomarker [2]
MUTYH TTNB0ZK Limited Biomarker [3]
ACVRL1 TTGYPTC Strong Genetic Variation [4]
PTEN TTXJ3W7 Definitive Biomarker [5]
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This Disease Is Related to 7 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ENG OTL2LSMI Limited Autosomal dominant [1]
BCS1L OT5PY5CY Strong Genetic Variation [6]
CRELD2 OTL73AO8 Strong Biomarker [7]
SAG OTDNS3ZQ Strong Genetic Variation [8]
SMAD5 OTQNSVCQ Strong Genetic Variation [9]
BMPR1A OTQOA4ZH Definitive Autosomal dominant [1]
SMAD4 OTWQWCKG Definitive Autosomal dominant [10]
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⏷ Show the Full List of 7 DOT(s)

References

1 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
2 Syndecan-1, Epithelial-Mesenchymal Transition Markers (E-cadherin/-catenin) and Neoangiogenesis-related Proteins (PCAM-1 and Endoglin) in Colorectal Cancer.Anticancer Res. 2016 May;36(5):2271-80.
3 Colorectal polyposes: from phenotype to diagnosis.Pathol Res Pract. 2008;204(7):431-47. doi: 10.1016/j.prp.2008.03.008. Epub 2008 Jun 9.
4 HHT diagnosis by Mid-infrared spectroscopy and artificial neural network analysis.Orphanet J Rare Dis. 2013 Jun 27;8:94. doi: 10.1186/1750-1172-8-94.
5 Clinical and Histologic Overlap and Distinction Among Various Hamartomatous Polyposis Syndromes.Clin Transl Gastroenterol. 2019 May 22;10(5):1-9. doi: 10.14309/ctg.0000000000000035.
6 Excellent Diagnostic Characteristics for Ultrafast Gene Profiling of DEFA1-IL1B-LTF in Detection of Prosthetic Joint Infections.J Clin Microbiol. 2017 Sep;55(9):2686-2697. doi: 10.1128/JCM.00558-17. Epub 2017 Jun 21.
7 Synovial fluid interleukin-16, interleukin-18, and CRELD2 as novel biomarkers of prosthetic joint infections.Bone Joint Res. 2019 May 3;8(4):179-188. doi: 10.1302/2046-3758.84.BJR-2018-0291.R1. eCollection 2019 Apr.
8 Superantigens in Staphylococcus aureus isolated from prosthetic joint infection.Diagn Microbiol Infect Dis. 2015 Mar;81(3):201-7. doi: 10.1016/j.diagmicrobio.2014.11.007. Epub 2014 Nov 24.
9 Screening SMAD1, SMAD2, SMAD3, and SMAD5 for germline mutations in juvenile polyposis syndrome.Gut. 1999 Sep;45(3):406-8. doi: 10.1136/gut.45.3.406.
10 JP-HHT phenotype in Danish patients with SMAD4 mutations. Clin Genet. 2016 Jul;90(1):55-62. doi: 10.1111/cge.12693. Epub 2015 Dec 21.