Juvenile polyposis syndrome (JPS) is an autosomal dominant condition identified by the presence of multiple benign, non-cancerous polyps called juvenile polyps in the gastrointestinal tract. A germline mutation in the SMAD4 or BMPR1A gene is found in about 50%-60% of patients with JPS. These genes play a role in the BMP/TGF-beta signalling pathway.
Category
Neoplasm
Brite
Human diseases in ICD-11 classification [BR:br08403]
02 Neoplasms
Benign neoplasms, except of lymphoid, haematopoietic, central nervous system or related tissues
Benign non-mesenchymal neoplasms
2E92 Benign neoplasm of digestive organs
H01023 Juvenile polyposis syndrome
Pathway-based classification of diseases [BR:br08402]
Signal transduction
nt06507 TGFB signaling
H01023 Juvenile polyposis syndrome
Hereditary mixed polyposis syndrome (HMPS) is a rare condition characterized by mixed hyperplastic, adenomatous and juvenile polyps and is associated with an increased risk of colorectal carcinoma. HMPS is linked to mutations in the BMPR1A gene.
Category
Digestive system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
02 Neoplasms
Benign neoplasms, except of lymphoid, haematopoietic, central nervous system or related tissues
Benign non-mesenchymal neoplasms
2E92 Benign neoplasm of digestive organs
H01024 Hereditary mixed polyposis syndrome
Pathway-based classification of diseases [BR:br08402]
Signal transduction
nt06507 TGFB signaling
H01024 Hereditary mixed polyposis syndrome
Cao X, Eu KW, Kumarasinghe MP, Li HH, Loi C, Cheah PY
Title
Mapping of hereditary mixed polyposis syndrome (HMPS) to chromosome 10q23 by genomewide high-density single nucleotide polymorphism (SNP) scan and identification of BMPR1A loss of function.
