Jewish Disease Learning Center

/Jewish Disease Learning Center
Jewish Disease Learning Center2017-04-06T21:08:16+00:00

What is Tay-Sachs Disease?

Tay-Sachs disease is a rare genetic disorder characterized by progressive degeneration of nerve cells in the brain and spinal cord. The signs and symptoms vary depending on the age of onset and type of disease. [...]

What is Niemann-Pick Disease?

Niemann-Pick disease is an inherited genetic disorder characterized by abnormal lipid metabolism, resulting in the accumulation of fats in various organs, particularly the liver, spleen, brain and bone marrow. The signs and symptoms vary in [...]

What is Glycogen Storage Disease Type Ia?

Glycogen storage disease type Ia (GSDIa) is a genetic disorder characterized by accumulation of glycogen in organs and tissues, impairing their normal function. This can lead to organ damage and other complications if left untreated. [...]

What is Mucolipidosis Type IV?

Mucolipidosis type IV is an inherited metabolic disorder characterized by developmental delay and impaired vision. There are two forms of Mucolipidosis type IV, categorized by the severity of signs and symptoms: 1. Typical mucolipidosis type [...]

What is Gaucher Disease?

Gaucher disease is a rare metabolic disorder characterized by accumulation of lipids in organs and bones. The signs and symptoms can vary in severity and age of onset depending on the type of disorder, ranging [...]

What is Fanconi Anemia Group C?

Fanconi anemia is an inherited genetic disorder characterized by bone marrow failure, congenital abnormalities and increased risk of cancer. Common signs and symptoms of Fanconi anemia include lower than normal levels of white blood cells, [...]

What is Familial Dysautonomia?

Familial dysautonomia is a progressive neurodegenerative disorder characterized by disrupted development and maintenance of nerve cells in the autonomic nervous system. It can lead to pulmonary complications and sudden death if left untreated. Common symptoms [...]

What is Maple Syrup Urine Disease?

Maple syrup urine disease (MSUD) is an inherited metabolic disorder characterized by acidosis and sweet odor in the urine. Acidosis refers to excessive acid in bloodstream, resulting from inability to break down certain amino acids [...]

What is Canavan Disease?

Canavan disease is a neurodegenerative disorder characterized by progressive nerve cell damage in the brain. The severity of the disorder can vary, ranging from mild developmental delay to intellectual disability and lack of motor development. [...]

What is Bloom Syndrome?

Bloom syndrome is a rare genetic disorder characterized by growth retardation, sunlight sensitivity and a weaker immune system. Common symptoms include short stature, skin rashes upon sun exposure, high-pitched voice and distinct facial features (long [...]