Atlas One · Host Biology · Scale 07 — System

Cowden Syndrome

Cowden syndrome (PTEN hamartoma tumor syndrome, PHTS) is caused by germline PTEN mutations or KLLN hypermethylation; breast cancer (~77-85%), thyroid, endometrial, and renal tumors; Lhermitte-Duclos disease is pathognomonic; annual MRI breast surveillance.

Also known as: Cowden syndrome, PTEN hamartoma tumor syndrome, PHTS, Bannayan-Riley-Ruvalcaba syndrome, BRRS, Cowden disease, PTEN Cowden syndrome, KLLN Cowden, Cowden PTEN, multiple hamartoma syndrome

Scale 07 — SystemScale
draftStatus
2026-06-07Last Reviewed
This is an auto-generated stub page built from atlas entry frontmatter. A richer hand-crafted page is planned. See the atlas source for the full entry including detailed body sections.
cowden-syndrome

Cowden Syndrome

Cowden syndrome (PTEN hamartoma tumor syndrome, PHTS) is caused by germline PTEN mutations or KLLN hypermethylation; breast cancer (~77-85%), thyroid, endometrial, and renal tumors; Lhermitte-Duclos disease is pathognomonic; annual MRI breast surveillance.

Entry Metadata

FieldValue
IDcowden-syndrome
NameCowden Syndrome
Statusdraft
Last reviewed2026-06-07
Atlas01-human
Scale07-system

Cross-Atlas Connections

connects-toKlln connects-toPten connects-toBreast Cancer connects-toThyroid Cancer connects-toMtor connects-toAkt connects-toEndometrial Cancer connects-toAutism Spectrum Disorder connects-toBirt Hogg Dube Syndrome connects-toBrain connects-toColorectal Cancer connects-toJuvenile Polyposis Syndrome connects-toRenal Cell Carcinoma connects-toPeutz Jeghers Syndrome connects-toTuberous Sclerosis Complex connects-toSkin connects-toThyroid connects-toFibroblast connects-toLynch Syndrome connects-toIntegumentary System connects-toMelanoma connects-toNervous System connects-toPik3Ca connects-toLarge Intestine connects-toReproductive System connects-toFoxo connects-toSdhb connects-toNeuron connects-toKidney connects-toVegf connects-toTgf Beta connects-toIodine connects-toFibrosis connects-toAdipocyte connects-toPhoton connects-toEndothelial Cell connects-toIntestinal Epithelium connects-toElectron connects-toStomach connects-toEye connects-toMusculoskeletal System connects-toSmall Intestine connects-toAntibody connects-toLiver connects-toT Cytotoxic Cell connects-toVhl Disease connects-toIgf 1 connects-toRegulatory T Cell connects-toNeurofibromatosis Type 1 connects-toCollagen connects-toGastric Cancer connects-toHereditary Breast Ovarian Cancer connects-toStat3 connects-toCyclin D1 connects-toMajor Depressive Disorder connects-toVenous Thromboembolism connects-toAnemia Of Chronic Disease connects-toCkd connects-toEpilepsy connects-toAspergillus Fumigatus connects-toGeneralized Anxiety Disorder connects-toEndocrine System connects-toDigestive System connects-toWound Healing connects-toCardiovascular System connects-toLymphatic System connects-toImmune System connects-toRenal System connects-toLi Fraumeni Syndrome connects-toGorlin Syndrome connects-toTargeted Therapy connects-toCarney Complex connects-toMen1 Syndrome connects-toCancer Chemotherapy connects-toArterial Wall connects-toFap connects-toProstate Cancer connects-toGlioblastoma connects-toHippocampus connects-toObesity connects-toType 2 Diabetes connects-toMedulloblastoma connects-toTsc1 Tsc2 connects-toP53 connects-toAstrocyte connects-toErk1 2 connects-toMyc connects-toHif 1Alpha connects-toThyroid Hormones connects-toEstrogen connects-toAutophagy connects-toCdkn1B connects-toCaspase 3 connects-toBdnf connects-toStk11 connects-toWnt Beta Catenin connects-toMlh1 connects-toGsk 3B connects-toHer2 connects-toE2F1 connects-toEgfr connects-toRb1 connects-toBcl 2 connects-toGalectin 3 connects-toSmad4 connects-toJak1 2 connects-toStat1 connects-toCgas Sting connects-toCdk4 6 connects-toMdm2 connects-toPerforin connects-toS100A8 A9 connects-toAmpk connects-toSrc Kinase connects-toDnmt3A connects-toCcr5 connects-toArid1A connects-toCdkn2A connects-toCxcl12 connects-toIl 1B connects-toIl 6 connects-toIl 33 connects-toIl 17A connects-toComplement C3 connects-toInsulin connects-toProgesterone connects-toMhc Class Ii connects-toIl 2 connects-toMacrophage connects-toNitric Oxide connects-toLeptin connects-toCholesterol connects-toIl 10 connects-toIl 4 connects-toIl 13 connects-toAdiponectin connects-toResistin connects-toSelenium connects-toPdgf connects-toBrain connects-toColorectal Cancer connects-toAutism Spectrum Disorder connects-toIfn Gamma connects-toIl 12 connects-toType I Interferon connects-toIl 5 connects-toIl 23 connects-toIge connects-toMast Cell connects-toT Helper Cell connects-toC5Ar1 connects-toComplement C5 connects-toFactor H connects-toTransferrin connects-toTslp connects-toBradykinin connects-toErythropoietin connects-toHistamine connects-toMelatonin connects-toC1 Esterase Inhibitor connects-toTestosterone connects-toSerotonin connects-toProlactin connects-toOxytocin connects-toVasopressin connects-toSodium connects-toMagnesium connects-toCopper connects-toZinc connects-toPotassium connects-toCalcium connects-toPhosphorus connects-toCarbon connects-toChloride connects-toHydrogen connects-toPd 1 connects-toGlp 1 connects-toAngiotensin Ii connects-toRankl connects-toFibronectin connects-toNotch connects-toActivin A connects-toCgrp connects-toCalcitonin connects-toSubstance P connects-toInsulin Receptor connects-toAldosterone connects-toAndrogen Receptor connects-toNorepinephrine connects-toAdrenomedullin connects-toOsteopontin connects-toFgfr connects-toEpinephrine

Sources