Disorder "Cowden syndrome"
Found 15 records
Disorder information
Disorder name:
Cowden syndrome
Disoder ID:
OMIM entry:
Synonyms:
Cowden syndrome, Cowden disease, dysplastic gangliocytoma of cerebellum, PTEN hamartoma syndrome, Lhermitte-Duclos disease, Cowden's disease, Multiple hamartoma syndrome, multiple hamartoma syndrome
Definition:
Cowden syndrome (CS) is a difficult to recognize, under-diagnosed genodermatosis characterized by the presence of multiple hamartomas in various tissues and an increased risk for malignancies of the breast, thyroid, endometrium, kidney and colorectum. When CS is accompanied by germline?PTEN?mutations, it belongs to the PTEN hamartoma tumor syndrome (PHTS; see this term) group.
Modifier statisitcs
Record:
15
Gene:
3
Variant:
11
Reference:
1
Effect type:
Expressivity(15)
Modifier effect:
Risk factor(15)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| SDHB | SDHB:rs33927012 | Expressivity | Risk factor | Assessment of genotype–phenotype associations and gene activity study | Increased prevalence of breast and thyroid cancers in SDHx variant carriers in PTEN mutation-negative CS/CSL individualsmore | more |
| SDHB:rs34916635 | Expressivity | Risk factor | Assessment of genotype–phenotype associations and gene activity study | SDHx alleles are associated with modified malignancy risks in PTEN mutation carriersmore | more | |
| SDHB:rs35962811 | Expressivity | Risk factor | Assessment of genotype–phenotype associations and gene activity study | Increased prevalence of breast and thyroid cancers in SDHx variant carriers in PTEN mutation-negative CS/CSL individualsmore | more | |
| SDHB:rs74315369 | Expressivity | Risk factor | Assessment of genotype–phenotype associations and gene activity study | Increased prevalence of breast and thyroid cancers in SDHx variant carriers in PTEN mutation-negative CS/CSL individualsmore | more | |
| SDHB:rs772798766 | Expressivity | Risk factor | Assessment of genotype–phenotype associations and gene activity study | SDHx alleles are associated with modified malignancy risks in PTEN mutation carriersmore | more |