has material basis in germline mutation in NPC2 Niemann-Pick disease, type C2 https://rarediseases.info.nih.gov/diseases/3992/niemann-pick-disease-type-c2 https://www.malacards.org/card/niemann_pick_disease_type_c2_2 NCIT:C126865 NPC2 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. Niemann-Pick disease type C2 DOID:0070114 MESH:C536119 UMLS:C1843366 MONDO:0011873 OMIM:607625 MEDGEN:335942 Niemann-Pick disease, type C2 GARD:0003992 type C2 Niemann-Pick disease Niemann-Pick disease type C