Blood & Immune
Graves' Disease
Graves' disease is the most common cause of hyperthyroidism, an autoimmune condition where antibodies stimulate the thyr...
Key Symptoms
IgA Nephropathy
IgA nephropathy is the most common primary glomerulonephritis worldwide, caused by abnormal IgA1 antibodies depositing i...
Key Symptoms
Mastocytosis
Mastocytosis is a rare hematological disorder characterized by clonal expansion of mast cells in bone marrow, organs, an...
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Severe Combined Immunodeficiency
Severe combined immunodeficiency is a rare genetic disorder affecting both T cell and B cell immune function, resulting ...
Key Symptoms
Sickle Cell Disease
Sickle cell disease is an inherited blood disorder where hemoglobin polymerizes under low oxygen, causing red blood cell...
Key Symptoms
Thalassemia
Thalassemia is an inherited blood disorder where reduced or absent production of one type of hemoglobin chain causes sev...
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Connective Tissue & Musculoskeletal
Ehlers-Danlos Syndrome
Ehlers-Danlos syndrome is a group of genetic connective tissue disorders characterized by abnormal collagen synthesis or...
Key Symptoms
Marfan Syndrome
Marfan syndrome is an autosomal dominant genetic disorder affecting connective tissue throughout the body, caused by mut...
Key Symptoms
Osteogenesis Imperfecta
Osteogenesis imperfecta is a genetic disorder affecting type I collagen synthesis or structure, causing bones to break e...
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Metabolic & Lysosomal
Fabry Disease
Fabry disease is a rare inherited lysosomal storage disorder where a missing enzyme causes fatty substances called globo...
Key Symptoms
Gaucher Disease
Gaucher disease is a rare inherited lysosomal storage disorder caused by deficiency of the enzyme glucocerebrosidase, re...
Key Symptoms
Homocystinuria
Homocystinuria is a rare inherited metabolic disorder characterized by elevated homocysteine levels in blood and urine. ...
Key Symptoms
Hunter Syndrome
Hunter syndrome is an X-linked lysosomal storage disorder caused by deficiency of iduronate-2-sulfatase enzyme, leading ...
Key Symptoms
Maple Syrup Urine Disease
Maple syrup urine disease is a rare inherited metabolic disorder where the body cannot properly break down branched-chai...
Key Symptoms
Niemann-Pick Disease
Niemann-Pick disease is a rare lysosomal storage disorder where the body cannot properly break down cholesterol and othe...
Key Symptoms
Phenylketonuria
Phenylketonuria is an inherited metabolic disorder caused by a missing enzyme that prevents the body from properly break...
Key Symptoms
Pompe Disease
Pompe disease is a rare inherited lysosomal storage disorder caused by deficiency of the enzyme acid alpha-glucosidase, ...
Key Symptoms
Tay-Sachs Disease
Tay-Sachs disease is a rare autosomal recessive lysosomal storage disorder caused by deficiency of the enzyme hexosamini...
Key Symptoms
Wilson Disease
Wilson disease is a rare inherited disorder where the body accumulates toxic levels of copper, primarily in the liver, b...
Key Symptoms
Multi-System
Epidermolysis Bullosa
Epidermolysis bullosa is a group of rare genetic blistering disorders caused by mutations affecting proteins anchoring t...
Key Symptoms
Peripartum Cardiomyopathy
Peripartum cardiomyopathy is a rare form of heart failure that develops during the last month of pregnancy or within 5 m...
Key Symptoms
Progeria
Progeria is an extremely rare genetic disorder causing rapid aging in children. A single point mutation in the LMNA gene...
Key Symptoms
Sarcoidosis
Sarcoidosis is an inflammatory disease characterized by formation of granulomas (clusters of immune cells) in multiple o...
Key Symptoms
Tuberous Sclerosis
Tuberous sclerosis is an autosomal dominant genetic disorder caused by mutations in TSC1 or TSC2 genes, resulting in dys...
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Neurological & Neuromuscular
Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis is a progressive neurodegenerative disease destroying motor neurons in the brain and spina...
Key Symptoms
Batten Disease
Batten disease is a rare inherited neurological disorder caused by mutations in genes affecting lysosomal function, lead...
Key Symptoms
Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth disease is one of the most common inherited neurological disorders, affecting peripheral nerves that...
Key Symptoms
Duchenne Muscular Dystrophy
Duchenne muscular dystrophy is an X-linked genetic disorder causing progressive muscle weakness and degeneration, beginn...
Key Symptoms
Friedreich Ataxia
Friedreich ataxia is an autosomal recessive neurodegenerative disease causing progressive damage to the nervous system, ...
Key Symptoms
Huntington Disease
Huntington disease is an autosomal dominant neurodegenerative disorder caused by an expanded CAG trinucleotide repeat in...
Key Symptoms
Multiple System Atrophy
Multiple system atrophy is a rare, progressive neurodegenerative disorder characterized by dysfunction of the autonomic ...
Key Symptoms
Myasthenia Gravis
Myasthenia gravis is a chronic autoimmune neuromuscular disorder causing muscle weakness and rapid fatigue. Antibodies a...
Key Symptoms
Rett Syndrome
Rett syndrome is a rare genetic neurological disorder affecting brain development, almost exclusively in girls. After no...
Key Symptoms
Spinal Muscular Atrophy
Spinal muscular atrophy is an autosomal recessive genetic disorder affecting motor neurons in the spinal cord, causing p...
Key Symptoms
Spinocerebellar Ataxia
Spinocerebellar ataxias are a group of inherited neurodegenerative disorders caused by mutations in various genes, leadi...
Key Symptoms
Pulmonary & Respiratory
Alpha-1 Antitrypsin Deficiency
Alpha-1 antitrypsin deficiency is a genetic disorder affecting the lungs and liver, caused by insufficient production of...
Key Symptoms
Cystic Fibrosis
Cystic fibrosis is an autosomal recessive genetic disorder affecting the CFTR protein, which normally regulates chloride...
Key Symptoms
Idiopathic Pulmonary Fibrosis
Idiopathic pulmonary fibrosis is a chronic, progressive lung disease characterized by scarring (fibrosis) of lung tissue...
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Pulmonary Arterial Hypertension
Pulmonary arterial hypertension is a rare disease characterized by abnormally high blood pressure in the pulmonary arter...
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Rare Cancers
Adrenocortical Carcinoma
Adrenocortical carcinoma is a rare, aggressive cancer of the adrenal cortex, the outer layer of the adrenal glands that ...
Key Symptoms
Cholangiocarcinoma
Cholangiocarcinoma is a rare and aggressive cancer that forms in the bile ducts, the thin tubes that carry digestive flu...
Key Symptoms
Gastrointestinal Stromal Tumor
Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal tumors of the gastrointestinal tract, arising fr...
Key Symptoms
Merkel Cell Carcinoma
Merkel cell carcinoma is a rare, aggressive skin cancer that arises from Merkel cells, specialized touch receptors in th...
Key Symptoms
Mesothelioma
Mesothelioma is a rare, aggressive cancer that develops in the mesothelium, the thin layer of tissue covering most inter...
Key Symptoms
NTRK Fusion Cancer
NTRK fusion cancers are a group of rare tumors driven by gene fusions involving 1 of 3 NTRK genes (NTRK1, NTRK2, or NTRK...
Key Symptoms