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Adrenal cortical carcinoma
Adrenal masses: Pathology review
Congenital adrenal hyperplasia
Cushing syndrome and Cushing disease: Pathology review
Primary adrenal insufficiency
Adrenal insufficiency: Pathology review
Disorders of amino acid metabolism: Pathology review
Disorders of carbohydrate metabolism: Pathology review
Disorders of fatty acid metabolism: Pathology review
Dyslipidemias: Pathology review
Fabry disease (NORD)
Gaucher disease (NORD)
Glucose-6-phosphate dehydrogenase (G6PD) deficiency
Glycogen storage disease type I
Glycogen storage disease type II (NORD)
Glycogen storage disease type III
Glycogen storage disease type IV
Glycogen storage disease type V
Glycogen storage disorders: Pathology review
Hereditary fructose intolerance
Lysosomal storage disorders: Pathology review
Maple syrup urine disease
Metachromatic leukodystrophy (NORD)
Mucopolysaccharide storage disease type 1 (Hurler syndrome) (NORD)
Mucopolysaccharide storage disease type 2 (Hunter syndrome) (NORD)
Niemann-Pick disease type C
Niemann-Pick disease types A and B (NORD)
Ornithine transcarbamylase deficiency
Purine and pyrimidine synthesis and metabolism disorders: Pathology review
Pyruvate dehydrogenase deficiency
Tay-Sachs disease (NORD)
Multiple endocrine neoplasia
Multiple endocrine neoplasia: Pathology review
Neuroendocrine tumors of the gastrointestinal system: Pathology review
Opsoclonus myoclonus syndrome (NORD)
Pancreatic neuroendocrine neoplasms
Pituitary tumors: Pathology review
Hypopituitarism: Pathology review
Constitutional growth delay
Syndrome of inappropriate antidiuretic hormone secretion (SIADH)
Diabetes insipidus and SIADH: Pathology review
Autoimmune polyglandular syndrome type 1 (NORD)
Thyroglossal duct cyst
Hyperthyroidism: Pathology review
Thyroid eye disease (NORD)
Toxic multinodular goiter
Hypothyroidism: Pathology review
Euthyroid sick syndrome
Subacute granulomatous thyroiditis
Thyroid nodules and thyroid cancer: Pathology review
Niemann-Pick disease type C
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Niemann-Pick disease type C, or NPC, is a rare genetically inherited condition caused by mutations in either the NPC1 or NPC2 genes.
These mutations impair intracellular transport of cholesterol and other molecules, which causes progressive neurologic and developmental problems.
Then, cholesterol reaches the early-endosome, which is an intracellular organelle that eventually matures into a late-endosome, and finally into a lysosome.
So with NPC1 or NPC2 mutations, intracellular cholesterol transport is impaired, so cholesterol accumulates inside lysosomes instead. Mutations can affect people of all ethnic backgrounds, and they’re inherited in an autosomal recessive pattern, which means that an affected individual must have two copies of the mutated gene, one from each parent.
Cholesterol buildup affects almost all cells, so it causes a variety of symptoms.
The brain and bone marrow are often affected.
The liver and spleen can be affected too, in which case, they enlarge.
Liver enlargement disrupts bile flow, causing bilirubin to accumulate in the blood.
Niemann-Pick disease type C is a rare genetically inherited condition, caused by mutations in the NPC1 or NPC2 genes. These mutations impair intracellular transport of cholesterol and other molecules, which causes progressive neurologic and developmental problems. This causes cholesterol to accumulate in lysosomes, resulting in brain, bone marrow, liver, spleen and lung damage.
Symptoms of Niemann-Pick disease type C typically begin in childhood and may include difficulty with movement and balance, difficulty swallowing, developmental delays, and progressive intellectual disability. There may also be hepatosplenomegaly, and liver failure.
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