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:
Variant:
11 
Reference:
Effect type:
Expressivity(15)  
Modifier effect:
Risk factor(15)  
Modifier gene Variant Effect type Modifier effect Evidence Effect PubMed ID
SDHD SDHD:rs11214077 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
SDHD:rs11214077 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
SDHD:rs121908984 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
SDHD:rs34677591 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
SDHD:rs34677591 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
SDHC SDHC:rs760572684 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 SDHB:rs11203289 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:rs11203289 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:rs1553177746 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:rs33927012 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
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