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Endocrine system
Adrenal cortical carcinoma
Adrenal masses: Pathology review
Adrenoleukodystrophy (NORD)
Congenital adrenal hyperplasia
Conn syndrome
Cushing syndrome
Cushing syndrome and Cushing disease: Pathology review
Hyperaldosteronism
Primary adrenal insufficiency
Adrenal insufficiency: Pathology review
Waterhouse-Friderichsen syndrome
McCune-Albright syndrome
Abetalipoproteinemia
Alkaptonuria
Amyloidosis
Cystinosis
Cystinuria (NORD)
Disorders of amino acid metabolism: Pathology review
Disorders of carbohydrate metabolism: Pathology review
Disorders of fatty acid metabolism: Pathology review
Dyslipidemias: Pathology review
Essential fructosuria
Fabry disease (NORD)
Familial hypercholesterolemia
Galactosemia
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
Hartnup disease
Hereditary fructose intolerance
Homocystinuria
Hyperlipidemia
Hypertriglyceridemia
Krabbe disease
Lactose intolerance
Lesch-Nyhan syndrome
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
Orotic aciduria
Phenylketonuria (NORD)
Purine and pyrimidine synthesis and metabolism disorders: Pathology review
Pyruvate dehydrogenase deficiency
Tay-Sachs disease (NORD)
Multiple endocrine neoplasia
Multiple endocrine neoplasia: Pathology review
Neuroblastoma
Neuroendocrine tumors of the gastrointestinal system: Pathology review
Opsoclonus myoclonus syndrome (NORD)
Pancreatic neuroendocrine neoplasms
Pheochromocytoma
Pituitary tumors: Pathology review
Zollinger-Ellison syndrome
Hyperpituitarism
Pituitary adenoma
Hyperprolactinemia
Prolactinoma
Acromegaly
Gigantism
Hypopituitarism
Hypopituitarism: Pathology review
Hypoprolactinemia
Pituitary apoplexy
Sheehan syndrome
Constitutional growth delay
Diabetes insipidus
Syndrome of inappropriate antidiuretic hormone secretion (SIADH)
Diabetes insipidus and SIADH: Pathology review
Autoimmune polyglandular syndrome type 1 (NORD)
Thyroglossal duct cyst
Hyperthyroidism
Hyperthyroidism: Pathology review
Graves disease
Thyroid eye disease (NORD)
Toxic multinodular goiter
Thyroid storm
Hypothyroidism
Hypothyroidism: Pathology review
Euthyroid sick syndrome
Hashimoto thyroiditis
Subacute granulomatous thyroiditis
Riedel thyroiditis
Thyroid cancer
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.
Now, cholesterol reaches the cells packed in lipoproteins, which bind to low density lipoprotein, or LDL, receptors on the cell membrane, to get inside the cell.
Then, cholesterol reaches the early-endosome, which is an intracellular organelle that eventually matures into a late-endosome, and finally into a lysosome.
Inside the lysosome, cholesterol is processed and recycled, so that it can be incorporated into the cell membrane.
To get out of the lysosome, first, cholesterol gets a little help from the NPC2 gene product, a protein that carries cholesterol up to the lysosomal membrane.
And on this membrane, cholesterol is greeted by the NPC1 gene product, which is a glycoprotein that moves cholesterol out of the lysosome and into the cell.
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.
This leads to jaundice, or yellow pigmentation of the skin and whites of the eye.
An enlarged spleen, on the other hand, may trap platelets, which causes easy bruising and bleeding issues.
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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