Gaucher disease, a lysosomal storage disorder common in Ashkenazi Jewish population, is characterised by autosomal recessive inheritance of a deficiency in the enzyme glucocerebrosidase, leading to…

Sickle cell disease, common in individuals of African descent, is an autosomal recessive genetic disorder characterised by the production of abnormal, sickle-shaped haemoglobin S, leading to…

Rheumatic heart disease, typically seen in developing countries among children and young adults, is characterised by chronic valvular inflammation secondary to recurrent Group A strep. infection, Aschoff…

Description Carney Triad is a rare, non-heritable syndrome typically presenting in young females. It comprises of gastrointestinal stromal tumours (GISTs), pulmonary chondromas, and paragangliomas. Although…

Colorectal adenocarcinoma, primarily affecting older adults, is the most common colorectal malignancy characterised by a polyp-to-cancer progression sequence, with histopathological features of glandular…

Pernicious anaemia, a common cause of vitamin B12 deficiency typically presenting in older adults, is an autoimmune condition characterised by gastric parietal cell antibodies leading to intrinsic…

Down syndrome, typically caused by a meiotic nondisjunction event resulting in trisomy 21, characteristically presents with intellectual disability, characteristic facial features and is often associated…

Hepatocellular carcinoma, the most common primary liver malignancy, is typically found in adults with cirrhosis or chronic hepatitis, characterised by elevated AFP, malignant hepatocytes, and appears as…

Description Mucosa-associated lymphoid tissue lymphoma (MALToma) is a type of non-Hodgkin’s B-cell lymphoma that arises from the marginal zone of lymphoid tissue. It is usually low-grade and extranodal, often…

Cystic fibrosis is usually seen in Caucasians in early childhood, typified by an autosomal recessive delta 508 mutations in the CFTR gene resulting in thickened mucous affecting multiple organs and…