Polyposis syndrome, hereditary mixed, 2(HMPS2)

MedGen UID:: 350500
•Concept ID:: C1864730
•: Disease or Syndrome

Synonym:	Polyposis Syndrome, Hereditary Mixed, 2

Gene (location): Gene(s) directly associated with this condition or phenotype.	BMPR1A (10q23.2)

Monarch Initiative:	MONDO:0012405
OMIM®:	610069

Definition

Hereditary mixed polyposis syndrome-2 (HMPS2) is characterized by colonic polyps of mixed hyperplastic, adenomatous, and occasional juvenile types. Polyposis eventually progresses to colorectal cancer (Cao et al., 2006). For a discussion of genetic heterogeneity of HMPS, see HMPS1 (601228). [from OMIM]

Clinical features

From HPO

Colon cancer

MedGen UID:: 2839
•Concept ID:: C0007102
•: Neoplastic Process

A primary or metastatic malignant neoplasm that affects the colon. Representative examples include carcinoma, lymphoma, and sarcoma.

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Adenomatous colonic polyposis

MedGen UID:: 358118
•Concept ID:: C1868071
•: Finding

Presence of multiple adenomatous polyps in the colon.

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Juvenile colonic polyposis

MedGen UID:: 868607
•Concept ID:: C4023006
•: Disease or Syndrome

The presence of more than 5 juvenile polyps of the colon. The term juvenile polyps refer to a special histopathology and not the age of onset as the polyp might be diagnosed at all ages. The juvenile polyp has a spherical appearance and is microscopically characterized by overgrowth of an oedematous lamina propria with inflammatory cells and cystic glands.

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Hyperplastic colonic polyposis

MedGen UID:: 868611
•Concept ID:: C4023010
•: Neoplastic Process

Presence of multiple hyperplastic polyps in the colon. Hyperplastic polyps are generally about 5 mm in size and show hyperplastic mucosal proliferation.

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Abnormality of the digestive system

Recent clinical studies

Etiology

Clinical subtypes and molecular characteristics of serrated polyposis syndrome.

Guarinos C, Sánchez-Fortún C, Rodríguez-Soler M, Pérez-Carbonell L, Egoavil C, Juárez M, Serradesanferm A, Bujanda L, Fernández-Bañares F, Cubiella J, de-Castro L, Guerra A, Aguirre E, Herreros-de-Tejada A, Bessa X, Herráiz M, Marín-Gabriel JC, Balmaña J, Cuatrecasas M, Balaguer F, Castells A, Soto JL, Alenda C, Payá A, Jover R
Clin Gastroenterol Hepatol 2013 Jun;11(6):705-11; quiz e46. Epub 2013 Jan 30 doi: 10.1016/j.cgh.2012.12.045. PMID: 23376323

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Diagnosis

Clinical subtypes and molecular characteristics of serrated polyposis syndrome.

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Polyposis syndrome, hereditary mixed, 2(HMPS2)

Definition

Clinical features

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Recent clinical studies

Etiology

Diagnosis

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