Learning: Rare Diseases
Genetic Rare Diseases
Genetic rare diseases are disorders caused by anomalies in an individual's DNA, ranging from single-gene mutations to complex chromosomal rearrangements. These conditions can affec...
Autoimmune Rare Diseases
Autoimmune rare diseases occur when the immune system mistakenly attacks the body's own healthy cells, tissues, or organs. This can lead to chronic inflammation, pain, and damage t...
Metabolic Rare Disorders
Metabolic rare disorders are a group of conditions that affect the body's ability to convert food into energy due to enzyme deficiencies or dysfunctional metabolic pathways. These ...
Rare Neurological Disorders
Rare neurological disorders encompass a wide range of conditions affecting the brain, spinal cord, or peripheral nerves. These diseases can lead to significant physical, cognitive,...
Hematologic Cancers
Hematologic cancers, also known as blood cancers, originate in the bone marrow or lymphatic tissues, affecting the production and function of blood cells. This category includes le...
Pediatric Cancers
Pediatric cancers are cancers that occur in children and adolescents, often differing from adult cancers in terms of types, how they spread, and how they respond to treatment. Earl...
Rare Solid Tumors
Rare solid tumors are uncommon cancers that develop in solid organs or tissues, such as muscles, bones, and connective tissues. Due to their rarity, they can be challenging to diag...
Rare Cardiovascular Diseases
Rare cardiovascular diseases encompass uncommon conditions that affect the heart and blood vessels, such as inherited cardiomyopathies or vascular anomalies. These diseases can lea...
Rare Respiratory Diseases
Rare respiratory diseases are uncommon conditions affecting the lungs and respiratory system, such as idiopathic pulmonary fibrosis or pulmonary arterial hypertension. Early diagno...
Rare Gastrointestinal Disorders
Rare gastrointestinal disorders affect the digestive tract, including conditions like eosinophilic esophagitis or intestinal pseudo-obstruction. These diseases can significantly im...
Rare Endocrine Disorders
Rare endocrine disorders involve unusual conditions affecting hormone-producing glands, such as Addison's disease or multiple endocrine neoplasia. Hormonal imbalances can lead to a...
Rare Infectious Diseases
Rare infectious diseases are caused by uncommon pathogens, leading to illnesses that may be difficult to diagnose and treat. These can include diseases like prion diseases or certa...
Rare Cancers of the Nervous System
These are uncommon cancers that develop in the brain, spinal cord, or peripheral nerves, such as gliomatosis cerebri or olfactory neuroblastoma. Due to their location, they can hav...
Rare Musculoskeletal Disorders
Rare musculoskeletal disorders affect the bones, muscles, and connective tissues, such as osteogenesis imperfecta or Ehlers-Danlos syndrome. They can lead to physical disabilities,...
Rare Kidney Diseases
Rare kidney diseases include conditions like Alport syndrome or atypical hemolytic uremic syndrome, affecting kidney function and leading to serious health issues if untreated. Ear...
Rare Skin Cancers
Rare skin cancers are uncommon malignancies that affect the skin, distinct from more common types like basal cell carcinoma or melanoma. These may include Merkel cell carcinoma, de...
Rare Eye Diseases
Rare eye diseases are uncommon conditions that can lead to visual impairment or blindness, such as retinitis pigmentosa or Leber's congenital amaurosis. Early diagnosis is key to m...