Number of the records: 1
Niemannova-Pickova choroba, typ C
Record number d052556 Date 06.06.2025 Type M - MESH Topical term Niemannova-Pickova choroba, typ C Other term English (Pseudonym) Niemann-Pick Disease Type C
English (Pseudonym) Niemann-Pick Disease, Type D
English (Pseudonym) Niemann-Pick Type C Disease
English (Pseudonym) Niemann-Pick Type D Disease
Slovak (Pseudonym) choroba neuroviscerálneho ukladania s vertikálnou supranukleárnou oftalmoplégiou
Slovak (Pseudonym) Niemannova-Pickova choroba typu C
Slovak (Pseudonym) Niemannova-Pickova choroba, typ D
Slovak (Pseudonym) Niemannova-Pickova choroba typu D
Slovak (Pseudonym) Niemann-Pickova choroba s blokovaním esterifikácie cholesterolu
Slovak (Pseudonym) Neiemann-Pickova choroba bez deficitu sfyngomyelinázy
Slovak (Pseudonym) Niemann-Pickova choroba, chronická neuronopatická forma
Slovak (Pseudonym) Niemann-Pickova choroba, typ Nové Škótsko
Slovak (Pseudonym) Niemann-Pickova choroba, novoškótsky typ
Slovak (Pseudonym) Niemann-Pickova choroba, subakútna juvenilná forma
Slovak (Pseudonym) Niemann-Pickova choroba typu D, novoškótska forma
UDC C10.228.140.163.100.435.825.700.875C15.604.250.410.625.875C16.320.565.189.435.825.700.875C16.320.565.398.641.803.730.875C16.320.565.595.554.825.700.875C18.452.132.100.435.825.700.875C18.452.584.563.641.803.730.875C18.452.648.189.435.825.700.875C18.452.648.398.641.803.730.875C18.452.648.595.554.825.700.875 Note An autosomal recessive lipid storage disorder that is characterized by accumulation of CHOLESTEROL and SPHINGOMYELINS in cells of the VISCERA and the CENTRAL NERVOUS SYSTEM. Type C (or C1) and type D are allelic disorders caused by mutation of the NPC1 gene, which encodes a protein that mediates intracellular cholesterol transport from LYSOSOMES. Clinical signs include hepatosplenomegaly and chronic neurological symptoms. Type D is a variant in people with a Nova Scotia ancestry. 
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Number of the records: 1