Niemann-Pick Disease, Type C [Niemannova-Pickova nemoc typu C]

topical
40
Terms

Niemannova-Pickova nemoc - typ C
Niemannova-Pickova nemoc - typ D
Niemannova-Pickova nemoc typu C1
Niemannova-Pickova nemoc typu D

 

Neurovisceral Storage Disease with Vertical Supranuclear Ophthalmoplegia
Niemann-Pick Disease Type C
Niemann-Pick Disease Type D
Niemann-Pick Disease with Cholesterol Esterification Block
Niemann-Pick Disease without Sphingomyelinase Deficiency
Niemann-Pick Disease, Chronic Neuronopathic Form
Niemann-Pick Disease, Nova Scotian
Niemann-Pick disease, Subacute Juvenile Form
Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type D
Niemann-Pick Type C Disease
Niemann-Pick Type D Disease
Niemann-Pick's Disease Type C
Niemann-Pick's Disease Type D
Nova Scotia (Type D) Form of Niemann-Pick Disease
Nova Scotia Niemann-Pick Disease (Type D)

Persistent link   https://www.medvik.cz/link/D052556
Definition

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.

DUI
D052556 MeSH Browser
CUI
M0335789
Previous indexing
Niemann-Pick Diseases (1968-2006)
History note
2007; use NIEMANN-PICK DISEASES 2000-2006
Public note
2007; see NIEMANN-PICK DISEASES 2000-2006

Allowable subheadings

BL
blood 1
CF
cerebrospinal fluid
CI
chemically induced
CL
classification 2
CO
complications 3
DI
diagnosis 26
DG
diagnostic imaging 1
DH
diet therapy 1
DT
drug therapy 9
EC
economics
EM
embryology
EN
enzymology 1
EP
epidemiology 3
EH
ethnology
ET
etiology 4
GE
genetics 9
HI
history
IM
immunology
ME
metabolism 4
MI
microbiology
MO
mortality 1
NU
nursing
PS
parasitology
PA
pathology 5
PP
physiopathology 10
PC
prevention & control
PX
psychology 4
RT
radiotherapy
RH
rehabilitation
SU
surgery
TH
therapy 10
UR
urine
VE
veterinary
VI
virology

C Diseases
C10 Nervous System Diseases 1 878
C10.228 Central Nervous System Diseases 808
C10.228.140 Brain Diseases 1 178
C10.228.140.163 Brain Diseases, Metabolic 84
C10.228.140.163.100 Brain Diseases, Metabolic, Inborn 26
C10.228.140.163.100.435 Lysosomal Storage Diseases, Nervous System 13
C10.228.140.163.100.435.825 Sphingolipidoses 12
C10.228.140.163.100.435.825.700 Niemann-Pick Diseases 36
C10.228.140.163.100.435.825.700.500 Niemann-Pick Disease, Type A 6
C10.228.140.163.100.435.825.700.750 Niemann-Pick Disease, Type B 4
C10.228.140.163.100.435.825.700.875 Niemann-Pick Disease, Type C 40
C15 Hemic and Lymphatic Diseases 91
C15.604 Lymphatic Diseases 444
C15.604.250 Histiocytosis 67
C15.604.250.410 Histiocytosis, Non-Langerhans-Cell 23
C15.604.250.410.625 Niemann-Pick Diseases 36
C15.604.250.410.625.500 Niemann-Pick Disease, Type A 6
C15.604.250.410.625.750 Niemann-Pick Disease, Type B 4
C15.604.250.410.625.875 Niemann-Pick Disease, Type C 40
C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities 439
C16.320 Genetic Diseases, Inborn 1 213
C16.320.565 Metabolism, Inborn Errors 711
C16.320.565.189 Brain Diseases, Metabolic, Inborn 26
C16.320.565.189.435 Lysosomal Storage Diseases, Nervous System 13
C16.320.565.189.435.825 Sphingolipidoses 12
C16.320.565.189.435.825.700 Niemann-Pick Diseases 36
C16.320.565.189.435.825.700.500 Niemann-Pick Disease, Type A 6
C16.320.565.189.435.825.700.750 Niemann-Pick Disease, Type B 4
C16.320.565.189.435.825.700.875 Niemann-Pick Disease, Type C 40
C16.320.565.398 Lipid Metabolism, Inborn Errors 154
C16.320.565.398.641 Lipidoses 35
C16.320.565.398.641.803 Sphingolipidoses 12
C16.320.565.398.641.803.730 Niemann-Pick Diseases 36
C16.320.565.398.641.803.730.500 Niemann-Pick Disease, Type A 6
C16.320.565.398.641.803.730.750 Niemann-Pick Disease, Type B 4
C16.320.565.398.641.803.730.875 Niemann-Pick Disease, Type C 40
C16.320.565.595 Lysosomal Storage Diseases 72
C16.320.565.595.554 Lysosomal Storage Diseases, Nervous System 13
C16.320.565.595.554.825 Sphingolipidoses 12
C16.320.565.595.554.825.700 Niemann-Pick Diseases 36
C16.320.565.595.554.825.700.500 Niemann-Pick Disease, Type A 6
C16.320.565.595.554.825.700.750 Niemann-Pick Disease, Type B 4
C16.320.565.595.554.825.700.875 Niemann-Pick Disease, Type C 40
C18 Nutritional and Metabolic Diseases 172
C18.452 Metabolic Diseases 1 196
C18.452.132 Brain Diseases, Metabolic 84
C18.452.132.100 Brain Diseases, Metabolic, Inborn 26
C18.452.132.100.435 Lysosomal Storage Diseases, Nervous System 13
C18.452.132.100.435.825 Sphingolipidoses 12
C18.452.132.100.435.825.700 Niemann-Pick Diseases 36
C18.452.132.100.435.825.700.500 Niemann-Pick Disease, Type A 6
C18.452.132.100.435.825.700.750 Niemann-Pick Disease, Type B 4
C18.452.132.100.435.825.700.875 Niemann-Pick Disease, Type C 40
C18.452.584 Lipid Metabolism Disorders 99
C18.452.584.563 Lipid Metabolism, Inborn Errors 154
C18.452.584.563.641 Lipidoses 35
C18.452.584.563.641.803 Sphingolipidoses 12
C18.452.584.563.641.803.730 Niemann-Pick Diseases 36
C18.452.584.563.641.803.730.500 Niemann-Pick Disease, Type A 6
C18.452.584.563.641.803.730.750 Niemann-Pick Disease, Type B 4
C18.452.584.563.641.803.730.875 Niemann-Pick Disease, Type C 40
C18.452.648 Metabolism, Inborn Errors 711
C18.452.648.189 Brain Diseases, Metabolic, Inborn 26
C18.452.648.189.435 Lysosomal Storage Diseases, Nervous System 13
C18.452.648.189.435.825 Sphingolipidoses 12
C18.452.648.189.435.825.700 Niemann-Pick Diseases 36
C18.452.648.189.435.825.700.500 Niemann-Pick Disease, Type A 6
C18.452.648.189.435.825.700.750 Niemann-Pick Disease, Type B 4
C18.452.648.189.435.825.700.875 Niemann-Pick Disease, Type C 40
C18.452.648.398 Lipid Metabolism, Inborn Errors 154
C18.452.648.398.641 Lipidoses 35
C18.452.648.398.641.803 Sphingolipidoses 12
C18.452.648.398.641.803.730 Niemann-Pick Diseases 36
C18.452.648.398.641.803.730.500 Niemann-Pick Disease, Type A 6
C18.452.648.398.641.803.730.750 Niemann-Pick Disease, Type B 4
C18.452.648.398.641.803.730.875 Niemann-Pick Disease, Type C 40
C18.452.648.595 Lysosomal Storage Diseases 72
C18.452.648.595.554 Lysosomal Storage Diseases, Nervous System 13
C18.452.648.595.554.825 Sphingolipidoses 12
C18.452.648.595.554.825.700 Niemann-Pick Diseases 36
C18.452.648.595.554.825.700.500 Niemann-Pick Disease, Type A 6
C18.452.648.595.554.825.700.750 Niemann-Pick Disease, Type B 4
C18.452.648.595.554.825.700.875 Niemann-Pick Disease, Type C 40

Niemann-Pick Disease, Nova Scotian Type Disease MeSH Browser

Niemann-Pick disease, type C2 Disease MeSH Browser

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