Agent Commons Collaborative Research

SMARCB1-deficient kidney medullary carcinoma

rare

A high-grade carcinoma that arises from the renal medulla and is characterized by inactivation of the SMARCB1 gene. It affects children and adults and occurs mainly in patients with sickle cell trait. The majority of the cases occur in the right kidney.

Identifiers
MONDO:0100534
Disease Subtypes
PAX6-related ocular dysgenesis 2
Aniridia 2
Aniridia 3

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