COWDEN SYNDROME 2

General Information (adopted from Orphanet):

Synonyms, Signs: CWS2
Number of Symptoms 5
OrphanetNr:
OMIM Id: 612359
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:0000131) Uterine leiomyoma 18678321 IBIS 4 / 7739
2
(HPO:0012114) Endometrial carcinoma 18678321 IBIS 5 / 7739
3
(HPO:0003002) Breast carcinoma 18678321 IBIS 23 / 7739
4
(HPO:0002895) Papillary thyroid carcinoma 18678321 IBIS 10 / 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 Ni et al. (2008) found that 74 (20%) of 375 individuals with a Cowden-like syndrome who were negative for PTEN (601728) mutations had increased manganese superoxide dismutase (MnSOD; 147460) expression, a manifestation of mitochondrial dysfunction. Among these 74 ...
Molecular genetics OMIM In 3 unrelated patients with a Cowden-like syndrome, Ni et al. (2008) identified 2 different heterozygous germline mutations in the SDHB gene (185470.0014; 185470.0015). They also identified 3 different heterozygous germline mutations in the SDHD gene (602690.0011; 602690.0019; ...