Disease #07169 (HMPS (Hereditary Mixed Polyposis Syndrome), OMIM:601228)

Official abbreviation HMPS
Name Hereditary Mixed Polyposis Syndrome
OMIM ID 601228
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 2
Phenotype entries for this disease 2
Associated with 1 gene GREM1
Associated tissues rectum
Disease features Large intestinal polyposis, in which both a mixture of polyps of different histological types are seen, and there may be polyps which have mixed histology, i.e. more than one type in the same polyp. The condition predisposes to adenocarcinoma of the colon and rectum. See PMID 9024286; 14572586; 18807306; 27984123;
Remarks It should be noted that nulling or missense genetic variants within the GREM1 protein coding region are associated with a completely different phenotype, in which no tumour predisposition is seen. [Dimitrov BI, Voet T, De Smet L, Vermeesch JR, Devriendt K, Fryns JP, Debeer P. Genomic rearrangements of the GREM1-FMN1 locus cause oligosyndactyly, radio-ulnar synostosis, hearing loss, renal defects syndrome and Cenani--Lenz-like non-syndromic oligosyndactyly. J. Med. Genet. 2010;47(8):569–574.] {20610440}. Hence, this LOVD is only for variants that affect the expression of GREM1 leading to HMPS.
Date created 2025-08-04 11:52:21 +02:00 (CEST)
Date last edited N/A


Individuals

2 entries on 1 page. Showing entries 1 - 2.
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00466090 FamPatIII1 PubMed: McKenna 2019 4-generation family, several affected F yes United States - - - - - HMPS see paper; ..., 63y-colon polyps; maternal family history cancer colon cancer mother (56y), two maternal aunts , maternal grandfather (mid 50′s), maternal aunt endometrial cancer - BRCA1, GREM1 2 1 Johan den Dunnen
00466092 FamSM96 PubMed: Jaeger 2003, PubMed: Jaeger 2012 large multi-generation family F;M - United Kingdom (Great Britain) jew-Ashkenazi - - - - HMPS see paper; ... - GREM1, SCG5 1 14 Johan den Dunnen
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