Mucolipidoses [mukolipidózy]

topical
10
Terms

cherry red spots myoklonický syndrom
cherry-red spots myoklonický syndrom
cherry-red-spots myoklonický syndrom
lipomukopolysacharidóza
mukolipidosa
mukolipidosy
mukolipidóza
mukolipidóza I
mukolipidóza II
mukolipidóza III
mukolipidóza IIIa
mukolipidóza IV
mukolipidóza typu 1
mukolipidóza typu I
mukolipidóza typu II
mukolipidóza typu III
mukolipidóza typu IV
pseudo-Hurlerova nemoc
pseudo-Hurlerova polydystrofie
sialidóza
sialidóza I
sialidóza typu I
sialolipidóza

 

Cherry Red Spot Myoclonus Syndrome
Cherry Red Spot-Myoclonus Syndrome
Deficiency Disease, Ganglioside Sialidase
Ganglioside Sialidase Deficiency Disease
Glycoprotein Neuraminidase Deficiency
I-Cell Disease
Inclusion Cell Disease
Lipomucopolysaccharidosis
Mucolipidosis
Mucolipidosis I
Mucolipidosis II
Mucolipidosis III
Mucolipidosis III Alpha Beta
Mucolipidosis IIIa
Mucolipidosis IV
Mucolipidosis Type 1
Mucolipidosis Type I
Mucolipidosis Type II
Mucolipidosis Type III
Mucolipidosis Type IV
Myoclonus Cherry Red Spot Syndrome
Myoclonus-Cherry Red Spot Syndrome
Pseudo-Hurler Polydystrophy
Psuedo-Hurler Disease
Sialidosis
Sialolipidosis
Type I Mucolipidosis
Type II Mucolipidosis
Type III Mucolipidosis
Type IV Mucolipidosis

Persistent link   https://www.medvik.cz/link/D009081
Definition

A group of inherited metabolic diseases characterized by the accumulation of excessive amounts of acid mucopolysaccharides, sphingolipids, and/or glycolipids in visceral and mesenchymal cells. Abnormal amounts of sphingolipids or glycolipids are present in neural tissue. INTELLECTUAL DISABILITY and skeletal changes, most notably dysostosis multiplex, occur frequently. (From Joynt, Clinical Neurology, 1992, Ch56, pp36-7)

DUI
D009081 MeSH Browser
CUI
M0014165
Previous indexing
Lipid Metabolism, Inborn Errors (1966-1976); Lipochondrodystrophy (1966-1976); Lipoidosis (1966-1976); Mucopolysaccharidosis (1974-1976)
History note
2000(1977)
Public note
2000

Allowable subheadings

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

C Diseases
C05 Musculoskeletal Diseases 1 125
C05.116 Bone Diseases 796
C05.116.198 Bone Diseases, Metabolic 431
C05.116.198.247 Bone Demineralization, Pathologic 124
C05.116.198.371 Mucolipidoses 10
C05.116.198.579 Osteoporosis 3 142
C05.116.198.709 Pseudohypoparathyroidism 31
C05.116.198.816 Rickets 143
C10 Nervous System Diseases 1 884
C10.228 Central Nervous System Diseases 810
C10.228.140 Brain Diseases 1 183
C10.228.140.163 Brain Diseases, Metabolic 85
C10.228.140.163.100 Brain Diseases, Metabolic, Inborn 28
C10.228.140.163.100.435 Lysosomal Storage Diseases, Nervous System 14
C10.228.140.163.100.435.295 Fucosidosis 2
C10.228.140.163.100.435.340 Glycogen Storage Disease Type II 59
C10.228.140.163.100.435.590 Mucolipidoses 10
C10.228.140.163.100.435.810 Sialic Acid Storage Disease 3
C10.228.140.163.100.435.825 Sphingolipidoses 12
C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities 439
C16.320 Genetic Diseases, Inborn 1 215
C16.320.565 Metabolism, Inborn Errors 714
C16.320.565.189 Brain Diseases, Metabolic, Inborn 28
C16.320.565.189.435 Lysosomal Storage Diseases, Nervous System 14
C16.320.565.189.435.295 Fucosidosis 2
C16.320.565.189.435.340 Glycogen Storage Disease Type II 59
C16.320.565.189.435.590 Mucolipidoses 10
C16.320.565.189.435.810 Sialic Acid Storage Disease 3
C16.320.565.189.435.825 Sphingolipidoses 12
C16.320.565.202 Carbohydrate Metabolism, Inborn Errors 36
C16.320.565.202.125 Congenital Disorders of Glycosylation 30
C16.320.565.202.251 Fructose Metabolism, Inborn Errors 5
C16.320.565.202.303 Fucosidosis 2
C16.320.565.202.355 Galactosemias 44
C16.320.565.202.402 Glucosephosphate Dehydrogenase Deficiency 15
C16.320.565.202.449 Glycogen Storage Disease 45
C16.320.565.202.460 Hyperoxaluria, Primary 10
C16.320.565.202.589 Lactose Intolerance 132
C16.320.565.202.607 Mannosidase Deficiency Diseases 1
C16.320.565.202.670 Mucolipidoses 10
C16.320.565.202.715 Mucopolysaccharidoses 81
C16.320.565.202.720 Multiple Carboxylase Deficiency
C16.320.565.202.810 Pyruvate Metabolism, Inborn Errors 6
C16.320.565.595 Lysosomal Storage Diseases 73
C16.320.565.595.554 Lysosomal Storage Diseases, Nervous System 14
C16.320.565.595.554.295 Fucosidosis 2
C16.320.565.595.554.340 Glycogen Storage Disease Type II 59
C16.320.565.595.554.590 Mucolipidoses 10
C16.320.565.595.554.810 Sialic Acid Storage Disease 3
C16.320.565.595.554.825 Sphingolipidoses 12
C18 Nutritional and Metabolic Diseases 172
C18.452 Metabolic Diseases 1 200
C18.452.132 Brain Diseases, Metabolic 85
C18.452.132.100 Brain Diseases, Metabolic, Inborn 28
C18.452.132.100.435 Lysosomal Storage Diseases, Nervous System 14
C18.452.132.100.435.295 Fucosidosis 2
C18.452.132.100.435.340 Glycogen Storage Disease Type II 59
C18.452.132.100.435.590 Mucolipidoses 10
C18.452.132.100.435.810 Sialic Acid Storage Disease 3
C18.452.132.100.435.825 Sphingolipidoses 12
C18.452.648 Metabolism, Inborn Errors 714
C18.452.648.189 Brain Diseases, Metabolic, Inborn 28
C18.452.648.189.435 Lysosomal Storage Diseases, Nervous System 14
C18.452.648.189.435.295 Fucosidosis 2
C18.452.648.189.435.340 Glycogen Storage Disease Type II 59
C18.452.648.189.435.590 Mucolipidoses 10
C18.452.648.189.435.810 Sialic Acid Storage Disease 3
C18.452.648.189.435.825 Sphingolipidoses 12
C18.452.648.202 Carbohydrate Metabolism, Inborn Errors 36
C18.452.648.202.125 Congenital Disorders of Glycosylation 30
C18.452.648.202.251 Fructose Metabolism, Inborn Errors 5
C18.452.648.202.303 Fucosidosis 2
C18.452.648.202.355 Galactosemias 44
C18.452.648.202.402 Glucosephosphate Dehydrogenase Deficiency 15
C18.452.648.202.449 Glycogen Storage Disease 45
C18.452.648.202.460 Hyperoxaluria, Primary 10
C18.452.648.202.589 Lactose Intolerance 132
C18.452.648.202.607 Mannosidase Deficiency Diseases 1
C18.452.648.202.670 Mucolipidoses 10
C18.452.648.202.715 Mucopolysaccharidoses 81
C18.452.648.202.720 Multiple Carboxylase Deficiency
C18.452.648.202.810 Pyruvate Metabolism, Inborn Errors 6
C18.452.648.595 Lysosomal Storage Diseases 73
C18.452.648.595.554 Lysosomal Storage Diseases, Nervous System 14
C18.452.648.595.554.295 Fucosidosis 2
C18.452.648.595.554.340 Glycogen Storage Disease Type II 59
C18.452.648.595.554.590 Mucolipidoses 10
C18.452.648.595.554.810 Sialic Acid Storage Disease 3
C18.452.648.595.554.825 Sphingolipidoses 12

Microvillus inclusion disease Disease MeSH Browser

Mucolipidosis 2 Disease MeSH Browser

Mucolipidosis II Alpha Beta Disease MeSH Browser

Mucolipidosis III Alpha Beta, Atypical Disease MeSH Browser

Mucolipidosis III Gamma Disease MeSH Browser

Mucolipidosis type 3 A Disease MeSH Browser

Nephrosialidosis Disease MeSH Browser

Neuraminidase 1 deficiency Disease MeSH Browser

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