Cowden syndrome

Orpha code: 201OMIM code: 616858

Definition

A 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 <i>PTEN</i> mutations, it belongs to the PTEN hamartoma tumor syndrome (PHTS) group.

Disease data
Classification

Disease

Synonyms
Cowden disease
Choroba Cowdena
Zespół mnogich zmian typu hamartoma
Multiple hamartoma syndrome
ORPHA code
201
OMIM code
616858
ICD10 code
Q85.8
ICD11 code
LD2D.Y

No additional description.

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