POLYPOSIS SYNDROME, HEREDITARY MIXED, 2

General Information (adopted from Orphanet):

Synonyms, Signs: HMPS2
Number of Symptoms 5
OrphanetNr:
OMIM Id: 610069
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0012183) Hyperplastic colonic polyposis 16525031 IBIS 1 / 7739
2
(HPO:0003003) Colon cancer 16525031 IBIS 20 / 7739
3
(HPO:0012198) Juvenile colonic polyposis 16525031 IBIS 1 / 7739
4
(HPO:0005227) Adenomatous colonic polyposis 16525031 IBIS 9 / 7739
5
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Cao et al. (2006) described two 3-generation Singapore Chinese families with hereditary mixed polyposis (HMPS), noting that the 15 affected members had colonic polyps very similar to those of the HMPS1 family 'SM96' described by Thomas et al. ...
Molecular genetics OMIM In affected members of a 3-generation Singapore Chinese family (family 2) with hereditary mixed polyposis, Cao et al. (2006) identified heterozygosity for an 11-bp deletion in the BMPR1A gene (601299.0009). The deletion was not found in unaffected family ...