 Mucolipidoses
"Mucolipidoses" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
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)
| Descriptor ID |
D009081
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| MeSH Number(s) |
C05.116.198.371 C10.228.140.163.100.435.590 C16.320.565.189.435.590 C16.320.565.202.670 C16.320.565.595.554.590 C18.452.132.100.435.590 C18.452.648.189.435.590 C18.452.648.202.670 C18.452.648.595.554.590
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| Concept/Terms |
Type I Mucolipidosis- Type I Mucolipidosis
- Mucolipidoses, Type I
- Mucolipidosis, Type I
- Type I Mucolipidoses
- Glycoprotein Neuraminidase Deficiency
- Deficiencies, Glycoprotein Neuraminidase
- Deficiency, Glycoprotein Neuraminidase
- Glycoprotein Neuraminidase Deficiencies
- Cherry Red Spot-Myoclonus Syndrome
- Myoclonus-Cherry Red Spot Syndrome
- Mucolipidosis Type I
- Mucolipidosis I
- Cherry Red Spot Myoclonus Syndrome
- Myoclonus Cherry Red Spot Syndrome
- Mucolipidosis Type 1
Type III Mucolipidosis- Type III Mucolipidosis
- Mucolipidoses, Type III
- Mucolipidosis, Type III
- Type III Mucolipidoses
- Mucolipidosis III
- Pseudo-Hurler Polydystrophy
- Polydystrophy, Pseudo-Hurler
- Pseudo Hurler Polydystrophy
- Mucolipidosis IIIa
- Mucolipidosis III Alpha Beta
- Mucolipidosis Type III
- Psuedo-Hurler Disease
- Psuedo Hurler Disease
- Psuedo-Hurler Diseases
Type IV Mucolipidosis- Type IV Mucolipidosis
- Mucolipidoses, Type IV
- Mucolipidosis, Type IV
- Type IV Mucolipidoses
- Deficiency Disease, Ganglioside Sialidase
- Ganglioside Sialidase Deficiency Disease
- Sialolipidosis
- Sialolipidoses
- Mucolipidosis Type IV
- Mucolipidosis IV
Type II Mucolipidosis- Type II Mucolipidosis
- Mucolipidoses, Type II
- Mucolipidosis, Type II
- Type II Mucolipidoses
- I-Cell Disease
- I Cell Disease
- I-Cell Diseases
- Mucolipidosis Type II
- Inclusion Cell Disease
- Inclusion Cell Diseases
- Mucolipidosis II
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Below are MeSH descriptors whose meaning is more general than "Mucolipidoses".
- Diseases [C]
- Musculoskeletal Diseases [C05]
- Bone Diseases [C05.116]
- Bone Diseases, Metabolic [C05.116.198]
- Mucolipidoses [C05.116.198.371]
- Nervous System Diseases [C10]
- Central Nervous System Diseases [C10.228]
- Brain Diseases [C10.228.140]
- Brain Diseases, Metabolic [C10.228.140.163]
- Brain Diseases, Metabolic, Inborn [C10.228.140.163.100]
- Lysosomal Storage Diseases, Nervous System [C10.228.140.163.100.435]
- Mucolipidoses [C10.228.140.163.100.435.590]
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Genetic Diseases, Inborn [C16.320]
- Metabolism, Inborn Errors [C16.320.565]
- Brain Diseases, Metabolic, Inborn [C16.320.565.189]
- Lysosomal Storage Diseases, Nervous System [C16.320.565.189.435]
- Mucolipidoses [C16.320.565.189.435.590]
- Carbohydrate Metabolism, Inborn Errors [C16.320.565.202]
- Mucolipidoses [C16.320.565.202.670]
- Lysosomal Storage Diseases [C16.320.565.595]
- Lysosomal Storage Diseases, Nervous System [C16.320.565.595.554]
- Mucolipidoses [C16.320.565.595.554.590]
- Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
- Brain Diseases, Metabolic [C18.452.132]
- Brain Diseases, Metabolic, Inborn [C18.452.132.100]
- Lysosomal Storage Diseases, Nervous System [C18.452.132.100.435]
- Mucolipidoses [C18.452.132.100.435.590]
- Metabolism, Inborn Errors [C18.452.648]
- Brain Diseases, Metabolic, Inborn [C18.452.648.189]
- Lysosomal Storage Diseases, Nervous System [C18.452.648.189.435]
- Mucolipidoses [C18.452.648.189.435.590]
- Carbohydrate Metabolism, Inborn Errors [C18.452.648.202]
- Mucolipidoses [C18.452.648.202.670]
- Lysosomal Storage Diseases [C18.452.648.595]
- Lysosomal Storage Diseases, Nervous System [C18.452.648.595.554]
- Mucolipidoses [C18.452.648.595.554.590]
Below are MeSH descriptors whose meaning is more specific than "Mucolipidoses".
This graph shows the total number of publications written about "Mucolipidoses" by people in this website by year, and whether "Mucolipidoses" was a major or minor topic of these publications.
To see the data from this visualization as text, click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 2011 | 1 | 0 | 1 | | 2019 | 1 | 0 | 1 | | 2020 | 1 | 0 | 1 |
To return to the timeline, click here.
Below are the most recent publications written about "Mucolipidoses" by people in Profiles.
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Poore TS, Prager J, Weinman JP, Larson A, Houin P. Tracheal and lower airway changes in a patient with mucolipidosis type II. Pediatr Pulmonol. 2020 07; 55(7):1843-1845.
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Bou Ghannam AS, Mehner LC, Pelak VS. Sialidosis Type 1 Without Cherry-Red Spot. J Neuroophthalmol. 2019 09; 39(3):388-390.
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Lund TC, Cathey SS, Miller WP, Eapen M, Andreansky M, Dvorak CC, Davis JH, Dalal JD, Devine SM, Eames GM, Ferguson WS, Giller RH, He W, Kurtzberg J, Krance R, Katsanis E, Lewis VA, Sahdev I, Orchard PJ. Outcomes after hematopoietic stem cell transplantation for children with I-cell disease. Biol Blood Marrow Transplant. 2014 Nov; 20(11):1847-51.
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Szperl AM, Golachowska MR, Bruinenberg M, Prekeris R, Thunnissen AM, Karrenbeld A, Dijkstra G, Hoekstra D, Mercer D, Ksiazyk J, Wijmenga C, Wapenaar MC, Rings EH, van IJzendoorn SC. Functional characterization of mutations in the myosin Vb gene associated with microvillus inclusion disease. J Pediatr Gastroenterol Nutr. 2011 Mar; 52(3):307-13.
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Spritz RA, Coates PM, Lief FS. I-cell disease: intracellular desialylation of lysosomal enzymes using an influenza virus vector. Biochim Biophys Acta. 1979 Jan 04; 582(1):164-71.
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