Wilson’s disease Disease

About Gene:

Wilson disease is an inherited disorder in which excessive amounts of copper accumulate in the body, particularly in the liver, brain, and eyes.

Number of Patients: 1

Disease Causing Genes:

MTHFR BDNF PPARG HFE PTX3 PPARA XIAP CD163 CD163 LOX ATP7A LOXL2

Sign and Symptoms:

  1. Fatigue, lack of appetite or abdominal pain A yellowing of the skin and the whites of the eye (jaundice) Golden-brown eye discoloration (Kayser-Fleischer rings) Fluid buildup in the legs or abdomen Problems with speech, swallowing or physical coordination Uncontrolled movements or muscle stiffness

Diagnosis:

(1) Medical history collection (2) Physical examination (3) ECG (4) Chest X-ray (5) Cardiac characterization (6) STG aortography (7) Angiography (8) Blood test

Preventions:

Treatment: