Details of Disease

General Information of Disease (ID: DISWA3FF)

Disease Name Generalized juvenile polyposis/juvenile polyposis coli
Synonyms
juvenile intestinal polyposis; jPS; juvenile polyposis coli; juvenile polyposis of stomach; polyposis, familial, of Entire gastrointestinal tract; polyposis, juvenile intestinal; juvenile polyposis syndrome; generalized juvenile polyposis/juvenile polyposis coli
Disease Hierarchy
DISBPSLH: Juvenile polyposis syndrome
DIS3HIWD: Autosomal dominant disease
DISWA3FF: Generalized juvenile polyposis/juvenile polyposis coli
Disease Identifiers
MONDO ID
MONDO_0008276
MESH ID
C537702
UMLS CUI
C1868081
MedGen ID
356898
Orphanet ID
329971

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
ENG TTB30LE Limited Biomarker [1]
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This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
SMAD4 OTWQWCKG Strong Autosomal dominant [2]
BMPR1A OTQOA4ZH Definitive Autosomal dominant [3]
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References

1 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.
2 The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.
3 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.