The molecular basis of disease
From the altered gene to the protein and the clinical picture, in the model disorders.
13 pages
Topics
Conditions and syndromes
- Sickle cell diseaseAn inherited hemoglobin disease in which red cells bend into a sickle shape, block vessels and…
- Thalassemias (α and β)Inherited diseases in which too little α or β globin is made; red cells come out small and few…
- Phenylketonuria (PKU)In phenylketonuria the body cannot process the phenylalanine in protein; untreated from birth…
- I-cell disease (mucolipidosis II)In I-cell disease lysosomal enzymes miss their shipping tag and leave the cell; coarse features…
- Familial hypercholesterolemiaAn inherited disorder in which the liver cannot clear LDL cholesterol from the blood; it causes…
- Cystic fibrosisAn inherited disease that makes mucus thick and sticky, damaging the lungs, pancreas and other…
- Duchenne muscular dystrophyAn inherited disease of boys in which dystrophin is missing: muscles are damaged and weaken from…
- Spinal muscular atrophySpinal muscular atrophy is an inherited disease in which the nerve cells that move muscles die…
- Huntington diseaseAn inherited brain disease causing involuntary movements, mood changes and dementia, due to a…
- Fragile X syndromeThe most common inherited cause of intellectual disability and of genetic autism; a CGG repeat…
- MELAS (mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes)MELAS is a maternally inherited mitochondrial disease that causes stroke-like episodes, lactic…
- MERRF (myoclonic epilepsy with ragged-red fibres)A maternally inherited mitochondrial disease of myoclonic jerks, seizures, unsteadiness and…
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.