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Niemann-Pick disease, type C2

MONDO:0011873

Niemann-Pick disease type C2 is a rare metabolic condition that affects many different parts of the body. Although signs and symptoms can develop at any age (infancy through adulthood), most affected people develop features of the condition during childhood. Neimann-Pick disease type C2 may be characterized by ataxia (difficulty coordinating movements), vertical supranuclear gaze palsy (inability to move the eyes vertically), poor muscle tone, hepatosplenomegaly (enlarged liver and spleen), interstitial lung disease, intellectual decline, seizures, speech problems, and difficulty swallowing. Niemann-Pick disease type C2 is caused by changes (mutations) in the NPC2 gene and is inherited in an autosomal recessive manner. There is, unfortunately, no cure for Niemann-Pick disease type C2. Treatment is based on the signs and symptoms present in each person.

Also known as: NPC2, Niemann-Pick disease, type C2, type C2 Niemann-Pick disease, Niemann-PICK disease, type C2, Niemann-Pick disease type C2

49 clinical trials for this condition and its sub-types.

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Broader categories

Disease (618) Metabolic disease (215) Hereditary disease (172) Inherited lipid metabolism disorder (165) Immune system disorder (140) Inborn errors of metabolism (42) Lysosomal storage disease (33) Lymphatic system disorder (27) Histiocytosis (15) Human disease (14)
Trials to join now! 22 Not yet recruiting 4 Not yet finished but already full! 8 Completed 15
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