pathologies genetics col 1, short explanation

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• This condition affects the conversion of cartilage into bone, least severe form hypochondroplasia
• is the most common form of skeletal displasia and slows down the growth of bone in the cartilage in growth plates. achondroplasia
• pathology in which the ossification of the bones is defect, patient has acanthosis nigricans SADDAN
• severe short-limb dwarfism syndrome that is usually lethal in the perinatal period due to respiratory insufficiency thanatophoric dysplasia
• patient has defect LDL receptor --> increased cholesterol in blood familial hypercholesterolemia
• the body cannot converte porphyrins into heme variegate porphyria
• an inherited condition which results in too much iron being stored in the body. haemochromatosis
• a disorder that damages your lungs, digestive tract and other organs and affects the cells that produce mucus, sweat and digestive jucies cystic fibrosis
• condition in which patient cannot break down phenylalanine (which is toxic) phenylketonuria
• accumulation of glycogen in tissues especially brain and muscles danon disease
• pathology in which there is no or low sperm in the ejaculate azoospermia, oligozoospermia
• pseudoautosomal dominant disorder of bone growth, shortening of long bones leri weil syndrome
• condition in which patient is colour blind daltonism
• bleeding disorder, lacks the blood clotting factor VIII haemophilia A
• bleeding disorder, lacks the blood clotting factor IX haemophilia B

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