Clinical cases
Genetic disorders to practise on: inheritance, diagnosis and risk to the family.
25 pages
- AchondroplasiaAchondroplasia is the most common inherited form of short-limbed dwarfism
- Age-related macular degenerationAge-related macular degeneration is wear of the macula, the centre of the retina, in older…
- Alzheimer diseaseAlzheimer disease is the most common cause of dementia; it usually starts with forgetting recent…
- Charcot-Marie-Tooth diseaseAn inherited nerve disease that slowly weakens and thins the feet, legs and hands, often with…
- Crohn diseaseCrohn disease is a chronic inflammatory bowel disease that can affect any part of the gut in…
- GJB2 (connexin 26) hearing lossThe most common genetic cause of deafness from birth in many populations: a recessive defect in…
- Maturity-onset diabetes of the young (MODY)Diabetes caused by a single dominant gene, often mistaken for type 1 or type 2; the exact gene…
- Gaucher diseaseIn Gaucher disease macrophages fill with an undigested lipid; the spleen and liver grow…
- Glucose-6-phosphate dehydrogenase (G6PD) deficiencyWith G6PD deficiency red blood cells break down after certain drugs, fava beans or infections…
- Hereditary hemochromatosisAn inherited disease in which the gut absorbs too much iron, which deposits in the liver…
- Haemophilia A and BHaemophilia is an inherited lack of a clotting factor (VIII or IX), so bleeding lasts longer…
- Hypertrophic cardiomyopathyHypertrophic cardiomyopathy is an inherited thickening of the heart muscle
- Proteus syndromeA very rare disorder of patchy, progressive overgrowth of bones, skin and fat, caused by a…
- Long QT syndrome and torsades de pointesLong QT means the heart takes too long to recharge after each beat
- Marfan syndromeMarfan syndrome is an inherited connective tissue disorder that makes people tall and…
- Medium-chain acyl-CoA dehydrogenase (MCAD) deficiencyAn inherited disorder in which the body cannot use fat well for energy; fasting or an infection…
- Neurofibromatosis (types 1 and 2)Neurofibromatosis is a group of inherited conditions that cause benign tumours along nerves…
- Roifman syndromeA rare recessive disorder of short stature, antibody deficiency, retinal disease and…
- Ornithine transcarbamylase (OTC) deficiencyThe most common urea cycle disorder: the liver cannot clear ammonia well, so it builds up and…
- Autosomal dominant polycystic kidney diseasePolycystic kidney disease is an inherited disorder in which many fluid-filled cysts grow in both…
- Noonan syndromeA genetic disorder with short stature, a webbed neck, typical facial features and heart disease…
- Tay–Sachs diseaseIn Tay–Sachs disease a lipid called GM2 builds up in neurons; the baby stops progressing, loses…
- Inherited thrombophiliaInherited gene changes that make blood clot too easily, raising the risk of deep vein thrombosis…
- Turner syndromeTurner syndrome is a chromosomal condition in girls with one missing or altered X chromosome
- Dyskeratosis congenita and other telomere biology disordersAn inherited disease of very short telomeres
This section is an index: it gathers pages from Biochemistry, Pathology, Embryology and other sections without repeating them. Educational content; it does not replace a geneticist's assessment or genetic counselling.
Representative model, for educational purposes only.