POLYPOSIS SYNDROME, HEREDITARY MIXED, 1

General Information (adopted from Orphanet):

Synonyms, Signs: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 15, INCLUDED
CRAC1 COLORECTAL CANCER, SUSCEPTIBILITY TO, 4, INCLUDED
COLORECTAL ADENOMA AND CARCINOMA 1
CRCS4, INCLUDED
HMPS1
CHROMOSOME 15q13-q14 DUPLICATION SYNDROME, 40-KB
Number of Symptoms 4
OrphanetNr:
OMIM Id: 601228
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
(OMIM) Colorectal carcinoma 3 / 7739
2
(OMIM) Inflammatory and metaplastic polyps 1 / 7739
3
(OMIM) Atypical juvenile polyps (174900) 1 / 7739
4
(OMIM) Colonic adenomas 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) The hereditary mixed polyposis syndrome (HMPS) is characterized by atypical juvenile polyps, colonic adenomas, and colorectal carcinomas (CRC).

- Genetic Heterogeneity of Hereditary Mixed Polyposis

HMPS2 (610069) is caused by mutation in the BMPR1A ...

Clinical Description OMIM Thomas et al. (1996) noted that HMPS patients may also have an increased propensity to develop inflammatory and metaplastic polyps. The authors stated that in a large HMPS family identified at St. Mark's Hospital, London, HMPS appeared to ...
Molecular genetics OMIM Using a custom oligonucleotide array, Jaeger et al. (2012) detected a heterozygous single-copy duplication of approximately 40 kb centered on chromosome 15:30.77 Mb (UCSC Genome Browser) in 2 affected individuals from an Ashkenazi Jewish family with HMPS that ...