Oligodontia - cancer predisposition syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: TOOTH AGENESIS-COLORECTAL CANCER SYNDROME
ODCRCS
Autosomal dominant ectodermal dysplasia-cancer predisposition syndrome syndrome
Number of Symptoms 12
OrphanetNr: 300576
OMIM Id: 608615
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Malformation syndrome with odontal and/or periodontal component
 -Rare developmental defect during embryogenesis
 -Rare odontologic disease
Polymalformative genetic syndrome with increased risk of developing cancer
 -Rare genetic disease
 -Rare oncologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0002209) Sparse scalp hair rare [HPO:skoehler] 59 / 7739
2
 (HPO:0000677) Oligodontia 15042511 IBIS 41 / 7739
3
 (HPO:0005227) Adenomatous colonic polyposis 2/12 [HPO:probinson] 15042511 IBIS 9 / 7739
4
 (OMIM) Colorectal cancer, early onset 1 / 7739
5
 (OMIM) Sparse eyebrows, especially laterally (in some patients) 1 / 7739
6
 (OMIM) Permanent tooth agenesis, severe 1 / 7739
7
 (OMIM) Polyps, fundic gland 1 / 7739
8
 (MedDRA:10061451) Colorectal cancer 2 / 7739
9
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
10
 (OMIM) Scant body hair (in some patients) 1 / 7739
11
 (OMIM) Breast cancer, early-onset (in some patients) 1 / 7739
12
 (OMIM) Adenomatous polyps, colon 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Lammi et al. (2004) described a Finnish family in which severe permanent tooth agenesis (oligodontia) and colorectal neoplasia segregated with dominant inheritance. Eleven members of the family lacked at least 8 permanent teeth; 2 of them developed only ...
Molecular genetics OMIM Using positional cloning, Lammi et al. (2004) demonstrated that the oligodontia and predisposition to cancer in this family were caused by an arg656-to-ter mutation in the AXIN2 gene (R656X; 604025.0003). In addition, they identified a de novo frameshift ...