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Niemannova-Pickova choroba, typ C
Č. záznamu d052556 Dátum 06.06.2025 Typ M - MESH Tematický termín Niemannova-Pickova choroba, typ C Iný termín Angličtina (Pseudonym) Niemann-Pick Disease Type C
Angličtina (Pseudonym) Niemann-Pick Disease, Type D
Angličtina (Pseudonym) Niemann-Pick Type C Disease
Angličtina (Pseudonym) Niemann-Pick Type D Disease
Slovenčina (Pseudonym) choroba neuroviscerálneho ukladania s vertikálnou supranukleárnou oftalmoplégiou
Slovenčina (Pseudonym) Niemannova-Pickova choroba typu C
Slovenčina (Pseudonym) Niemannova-Pickova choroba, typ D
Slovenčina (Pseudonym) Niemannova-Pickova choroba typu D
Slovenčina (Pseudonym) Niemann-Pickova choroba s blokovaním esterifikácie cholesterolu
Slovenčina (Pseudonym) Neiemann-Pickova choroba bez deficitu sfyngomyelinázy
Slovenčina (Pseudonym) Niemann-Pickova choroba, chronická neuronopatická forma
Slovenčina (Pseudonym) Niemann-Pickova choroba, typ Nové Škótsko
Slovenčina (Pseudonym) Niemann-Pickova choroba, novoškótsky typ
Slovenčina (Pseudonym) Niemann-Pickova choroba, subakútna juvenilná forma
Slovenčina (Pseudonym) Niemann-Pickova choroba typu D, novoškótska forma
MDT 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 Poznámka 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. 
predmetové heslo
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