"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
|
| 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
|
| 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
|
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 |
|---|
| 2002 | 1 | 0 | 1 |
| 2004 | 1 | 0 | 1 |
| 2005 | 1 | 0 | 1 |
| 2009 | 1 | 0 | 1 |
| 2016 | 1 | 0 | 1 |
| 2017 | 0 | 1 | 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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Khan SA, Tomatsu SC. Mucolipidoses Overview: Past, Present, and Future. Int J Mol Sci. 2020 Sep 17; 21(18).
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Leti Acciaro A, Pilla F, Faldini C, Adani R. The carpal tunnel syndrome in children. Musculoskelet Surg. 2018 Dec; 102(3):261-265.
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Kubaski F, Suzuki Y, Orii K, Giugliani R, Church HJ, Mason RW, Dung VC, Ngoc CT, Yamaguchi S, Kobayashi H, Girisha KM, Fukao T, Orii T, Tomatsu S. Glycosaminoglycan levels in dried blood spots of patients with mucopolysaccharidoses and mucolipidoses. Mol Genet Metab. 2017 03; 120(3):247-254.
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Tomatsu S, Monta?o AM, Oguma T, Dung VC, Oikawa H, Guti?rrez ML, Yamaguchi S, Suzuki Y, Fukushi M, Barrera LA, Kida K, Kubota M, Orii T. Validation of disaccharide compositions derived from dermatan sulfate and heparan sulfate in mucopolysaccharidoses and mucolipidoses II and III by tandem mass spectrometry. Mol Genet Metab. 2010 Feb; 99(2):124-31.
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Wilcox WR, Wenger DA, Lachman RS, Rimoin DL. Distinguishing Pacman dysplasia from mucolipidosis II: comment on Saul et al. [2005]. Am J Med Genet A. 2005 Jun 15; 135(3):333.
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Unger S, Paul DA, Nino MC, McKay CP, Miller S, Sochett E, Braverman N, Clarke JT, Cole DE, Superti-Furga A. Mucolipidosis II presenting as severe neonatal hyperparathyroidism. Eur J Pediatr. 2005 Apr; 164(4):236-43.
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Leimig T, Mann L, Martin Mdel P, Bonten E, Persons D, Knowles J, Allay JA, Cunningham J, Nienhuis AW, Smeyne R, d'Azzo A. Functional amelioration of murine galactosialidosis by genetically modified bone marrow hematopoietic progenitor cells. Blood. 2002 May 1; 99(9):3169-78.