Cowden syndrome

Orpha code: 201OMIM code: 616858

Definicja

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
Klasyfikacja

Disease

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

No additional description.

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