# Síndrome Cowden > Página oficial: https://raras.org/doenca/sindrome-cowden > Fonte: Raras.org — Banco de Dados de Doenças Raras em Português (CC BY-NC-SA 4.0) > Última atualização: 2026-05-07 ## Identificadores - **ORPHA**: 201 — https://www.orpha.net/en/disease/detail/201 - **CID-10**: Q85.8 - **OMIM**: none — https://omim.org/entry/none ## Descrição clínica Uma genodermatose (doença genética que afeta a pele e outros tecidos) caracterizada pela presença de múltiplos crescimentos anormais, mas geralmente benignos (conhecidos como hamartomas), em várias partes do corpo. Também aumenta o risco de desenvolver cânceres na mama, tireoide, endométrio (revestimento interno do útero), rim e colorretal (intestino grosso e reto). Quando esta condição (Síndrome de Cowden ou CS) é acompanhada por mutações genéticas hereditárias no gene PTEN, ela é classificada no grupo da síndrome de tumores hamartomatosos PTEN (PHTS). ## Epidemiologia e herança - **Prevalência**: Unknown - **Padrão de herança**: Autosomal dominant ## Sinais e sintomas (97 fenótipos HPO) - **Fibroma** — HPO: HP:0010614 (Frequente (79-30%)) - **Hemangioma** — HPO: HP:0001028 - **Tireoidite de Hashimoto** — HPO: HP:0000872 - **Carcinoma ductal in situ** — HPO: HP:0030075 - **Polipose intestinal** — HPO: HP:0200008 - **Carcinoma papilífero de tireoide** — HPO: HP:0002895 - **Neoplasia renal** — HPO: HP:0009726 - **Tricolemoma** — HPO: HP:0012844 - **Nódulo tireoidiano** — HPO: HP:0025388 - **Carcinoma da tireoide** — HPO: HP:0002890 - **Anormalidade do sistema cardiovascular** — HPO: HP:0001626 - **Hamartoma** — HPO: HP:0010566 - **Fibroadenoma da mama** — HPO: HP:0010619 - **Adenoma da tireoide** — HPO: HP:0000854 - **Hipotireoidismo** — HPO: HP:0000821 - **Hipoplasia da maxila** — HPO: HP:0000327 - **Hemimegalencefalia** — HPO: HP:0007206 - **Tremor intencional** — HPO: HP:0002080 - **Acroceratose** — HPO: HP:0200016 - **Acrocórdons** — HPO: HP:0010609 - **Carcinoma de células transicionais da bexiga** — HPO: HP:0006740 - **Divertículos colônicos** — HPO: HP:0002253 - **Hidrocele testicular** — HPO: HP:0000034 - **Anormalidade da vasculatura** — HPO: HP:0002597 - **Carcinoma ovariano** — HPO: HP:0025318 - **Macrocefalia progressiva** — HPO: HP:0004481 - **Carcinoma** — HPO: HP:0030731 - **Deficiência intelectual, leve** — HPO: HP:0001256 - **Infecções recorrentes** — HPO: HP:0002719 - **Gangliocitoma displásico do cerebelo** — HPO: HP:0500009 - **Estrias angioides do fundo de olho** — HPO: HP:0001102 - **Cisto ovariano** — HPO: HP:0000138 - **Tireoidite** — HPO: HP:0100646 - **Hipertireoidismo** — HPO: HP:0000836 - **Lipoma subcutâneo** — HPO: HP:0001031 - **Boca estreita** — HPO: HP:0000160 - **Nível diminuído de anticorpos circulantes** — HPO: HP:0004313 - **Micrognatia** — HPO: HP:0000347 - **Hiperceratose palmoplantar** — HPO: HP:0000972 - **Varicocele** — HPO: HP:0012871 - _...e mais 57 sintomas. Ver https://raras.org/doenca/sindrome-cowden._ ## Genes associados (9) - **USF3** — Basic helix-loop-helix domain-containing protein USF3 [Disease-causing germline mutation(s) in] - Função: Involved in the negative regulation of epithelial-mesenchymal transition, the process by which epithelial cells lose their polarity and adhesion properties to become mesenchymal cells with enhanced mi - **KLLN** — Killin [Disease-causing germline mutation(s) in] - Função: DNA-binding protein involved in S phase checkpoint control-coupled apoptosis by mediating p53/TP53-induced apoptosis. Has the ability to inhibit DNA synthesis and S phase arrest coupled to apoptosis. - **AKT1** — RAC-alpha serine/threonine-protein kinase [Disease-causing germline mutation(s) (gain of function) in] - Função: AKT1 is one of 3 closely related serine/threonine-protein kinases (AKT1, AKT2 and AKT3) called the AKT kinase, and which regulate many processes including metabolism, proliferation, cell survival, gro - **SDHD** — Succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial [Disease-causing germline mutation(s) in] - Função: Membrane-anchoring subunit of succinate dehydrogenase (SDH) that is involved in complex II of the mitochondrial electron transport chain and is responsible for transferring electrons from succinate to - **SDHC** — Succinate dehydrogenase cytochrome b560 subunit, mitochondrial [Disease-causing germline mutation(s) in] - Função: Membrane-anchoring subunit of succinate dehydrogenase (SDH) that is involved in complex II of the mitochondrial electron transport chain and is responsible for transferring electrons from succinate to - **PIK3CA** — Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform [Disease-causing germline mutation(s) (gain of function) in] - Função: Phosphoinositide-3-kinase (PI3K) phosphorylates phosphatidylinositol (PI) and its phosphorylated derivatives at position 3 of the inositol ring to produce 3-phosphoinositides (PubMed:15135396, PubMed: - **SDHB** — Succinate dehydrogenase [ubiquinone] iron-sulfur subunit, mitochondrial [Disease-causing germline mutation(s) in] - Função: Iron-sulfur protein (IP) subunit of the succinate dehydrogenase complex (mitochondrial respiratory chain complex II), responsible for transferring electrons from succinate to ubiquinone (coenzyme Q) ( - **SEC23B** — Protein transport protein Sec23B [Disease-causing germline mutation(s) in] - Função: Component of the coat protein complex II (COPII) which promotes the formation of transport vesicles from the endoplasmic reticulum (ER). The coat has two main functions, the physical deformation of th - **PTEN** — Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN [Disease-causing germline mutation(s) (loss of function) in] - Função: Dual-specificity protein phosphatase, dephosphorylating tyrosine-, serine- and threonine-phosphorylated proteins (PubMed:9187108, PubMed:9256433, PubMed:9616126). Also functions as a lipid phosphatase ## Ensaios clínicos ativos (3) - **NCT03702309** [RECRUITING]: Liquid Biopsy Evaluation and Repository Development at Princess Margaret — https://clinicaltrials.gov/study/NCT03702309 - **NCT06523582** [RECRUITING]: Genetic Bases of Neuroendocrine Neoplasms in Mexican Patients — https://clinicaltrials.gov/study/NCT06523582 - **NCT07218575** [NOT_YET_RECRUITING]: Double-Blind Trial of Everolimus for Improving Social Abilities in PTEN Germline Mutations — https://clinicaltrials.gov/study/NCT07218575 - **NCT04094675** [COMPLETED]: Sirolimus for Cowden Syndrome With Colon Polyposis — https://clinicaltrials.gov/study/NCT04094675 - **NCT06163365** [UNKNOWN]: Inherited Cancer Early Diagnosis (ICED) Study — https://clinicaltrials.gov/study/NCT06163365 - **NCT00600275** [COMPLETED]: A Phase I/II Study of BGT226 in Adult Patients With Advanced Solid Malignancies Including Patients With Advanced Breast Cancer — https://clinicaltrials.gov/study/NCT00600275 - **NCT00620594** [COMPLETED]: A Phase I/II Study of BEZ235 in Patients With Advanced Solid Malignancies Enriched by Patients With Advanced Breast Cancer — https://clinicaltrials.gov/study/NCT00620594 ## Doenças relacionadas (por similaridade fenotípica) - [Síndrome do hamartoma PTEN](https://raras.org/doenca/sindrome-do-hamartoma-pten) — ORPHA:306498 — 29 sintomas em comum - [Disqueratose congênita](https://raras.org/doenca/disqueratose-congenita) — ORPHA:1775 — 22 sintomas em comum - [Monossomia parcial do braço curto do cromossomo 1](https://raras.org/doenca/monossomia-parcial-do-braco-curto-do-cromossomo-1) — ORPHA:261857 — 21 sintomas em comum - [Monossomia parcial do cromossomo 19](https://raras.org/doenca/monossomia-parcial-do-cromossomo-19) — ORPHA:261841 — 20 sintomas em comum - [Síndrome Proteus](https://raras.org/doenca/sindrome-proteus) — ORPHA:744 — 19 sintomas em comum - [Hipertricose](https://raras.org/doenca/hipertricose) — ORPHA:79365 — 19 sintomas em comum - [Síndrome cardio-facio-cutâneo](https://raras.org/doenca/sindrome-cardio-facio-cutaneo) — ORPHA:1340 — 19 sintomas em comum - [Síndrome aneuploidia variada em mosaico](https://raras.org/doenca/sindrome-aneuploidia-variada-em-mosaico) — ORPHA:1052 — 18 sintomas em comum - [Síndrome de perturbação do desenvolvimento intelectual-cataratas-calcificações das cartilagens auriculares-miopatia](https://raras.org/doenca/sindrome-de-perturbacao-do-desenvolvimento-intelectual-cataratas-calcificacoes-das-cartilagens-auriculares-miopatia) — ORPHA:3042 — 18 sintomas em comum - [Xeroderma pigmentoso](https://raras.org/doenca/xeroderma-pigmentoso) — ORPHA:910 — 18 sintomas em comum ## Importante O Raras **não diagnostica e não prescreve**. Esta página é educativa e informativa. Pacientes devem consultar profissionais de saúde qualificados para decisões clínicas. --- **Citação sugerida**: Raras.org — Síndrome Cowden. Disponível em: https://raras.org/doenca/sindrome-cowden **Formato HTML**: https://raras.org/doenca/sindrome-cowden **Formato RDF/Turtle**: https://raras.org/api/rdf?orpha=201