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Copper Storage Disease

Hepatolenticular

Degeneration Syndrome

WD

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Learning About Wilson Disease. (2010). Retrieved from https://www.genome.gov/27532725/learning-about-wilson-disease/

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It is caused by a mutation being inherited in the ATP7B gene. Both parents of the offspring must pass on the same  gene to the child for it to be inherited.

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Wilson Disease. (n.d.). Retrieved from https://www.cedars-sinai.org/health-library/diseases-and-conditions/w/wilson-disease.html

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The chromosome affected by Wilson's Disease is chromosome 13.

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National Center for Biotechnology Information (US). (1998, January 01). Wilson's disease. Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK22248/

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Fatigue

Lack of appetite or abdominal pain

A yellowing of the skin and the whites of the eye

Golden-brown eye discoloration

Fluid buildup in the legs or abdomen

Problems with speech

Swallowing or physical coordination

Uncontrolled movements

Muscle stiffness

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Wilson's disease. (2018, March 07). Retrieved from https://www.mayoclinic.org/diseases-conditions/wilsons-disease/symptoms-causes/syc-20353251

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It is an autosomal recessive disease. It occurs equally in men and women. To inherit this disease, both parents must carry one genetic mutation.

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Inheritance. (n.d.). Retrieved from https://www.wilsonsdisease.org/about-wilson-disease/inheritance

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An individual with Wilson's Disease is capable of having children. Those children could possibly inherit the disease.

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Wilson's Disease Symptoms & Treatment | Children's Pittsburgh. (n.d.). Retrieved from http://www.chp.edu/our-services/transplant/liver/education/liver-disease-states/wilsons-disease

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cSMART (circulating single-molecule amplification and resequencing technology) is one of the prenatal tests for Wilson's Disease

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Lv, W., Wei, X., Guo, R., Liu, Q., Zheng, Y., Chang, J., . . . Wu, L. (2015, January). Noninvasive prenatal testing for Wilson disease by use of circulating single-molecule amplification and resequencing technology (cSMART). Retrieved from https://www.ncbi.nlm.nih.gov/pubmed/25376582

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This disease equally affects males and females in all races and ethnic groups. Wilson’s disease occurs around one in 30,000 to 40,000 people worldwide.

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Wilson Disease. (n.d.). Retrieved from https://rarediseases.org/rare-diseases/wilson-disease/