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Genetic Disorders - Coggle Diagram
Genetic Disorders
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Achondroplasia
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Protein Function/Type:
The FGFR3 protein is a receptor protein acts like a lever to stop bone growth in the cartilage cells.
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Tay-Sachs
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Protein Function/Type:
The Beta-Hexosaminidase A protein is an enzyme that breaks down GM2 gangliosides in the brain and the spinal chord.
Protein Dysfunction:
Gangliosides, or fatty acids begin to build up in nerve cells.
Affected Body Systems:
Nervous system, neurological system, skeletal system
Symptoms:
visible red dot on eye, loss of vision, muscular abnormalities, seizures, death
Hemophilia A
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Protein Function/Type:
The F8 protein provides instructions for making a protein called coagulation factor VIII. The interaction between these two results in the formation of a blood clot.
Protein Dysfunction:
When a person does not have this protein, it can lead to non stop bleeding, due to the lack of production of blood clots.
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Sickle Cell Anemia
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Protein Function/Type:
The Beta-Globin protein is a protein that is required for the oxygen-carrying function of red blood cells.
Protein Dysfunction:
The shape of red blood cells form into a sickle-like shape, instead of its usual round. This results in blockages in veins, which can ultimately damage organs and tissues.
Affected Body Systems:
Digestive system, circulatory system, urinary system,
skeletal system
Symptoms:
anemia, episodes of pain, swelling on hands and feet, delayed growth and puberty, problems with vision
CF
(Cystic Fibrosis)
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Protein Function/Type:
The CFTR protein is a receptor protein that balances the salt and chloride ion levels in the body. This protein controls the thickness of the mucus that line organs like the lungs or the pancreas.
Protein Dysfunction:
When the protein doesn’t work chloride becomes trapped in the cells. The mucus that lines these organs becomes less liquidy and more thick and sticky.
Affected Body Systems:
respiratory system, reproductive system, digestive system
Symptoms:
infections in pancreas and lungs, permanent lung damage, infertility in men, trouble giving birth in women, weight loss, death
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