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 IV Mucolipidosis- Type IV Mucolipidosis
- Mucolipidoses, Type IV
- Mucolipidosis, Type IV
- Type IV Mucolipidoses
- Mucolipidosis Type IV
- Mucolipidosis Type IVs
- Mucolipidosis IV
- Mucolipidosis IVs
- Deficiency Disease, Ganglioside Sialidase
- Ganglioside Sialidase Deficiency Disease
Type II Mucolipidosis- Type II Mucolipidosis
- Mucolipidoses, Type II
- Mucolipidosis, Type II
- Type II Mucolipidoses
- Mucolipidosis Type II
- Mucolipidosis Type IIs
- Mucolipidosis II
- Mucolipidosis IIs
- I-Cell Disease
- Disease, I-Cell
- Diseases, I-Cell
- I Cell Disease
- I-Cell Diseases
- Inclusion Cell Disease
- Cell Disease, Inclusion
- Cell Diseases, Inclusion
- Disease, Inclusion Cell
- Diseases, Inclusion Cell
- Inclusion Cell Diseases
Type III Mucolipidosis- Type III Mucolipidosis
- Mucolipidoses, Type III
- Mucolipidosis, Type III
- Type III Mucolipidoses
- Psuedo-Hurler Disease
- Disease, Psuedo-Hurler
- Diseases, Psuedo-Hurler
- Psuedo Hurler Disease
- Psuedo-Hurler Diseases
- Mucolipidosis Type III
- Mucolipidosis Type IIIs
- Mucolipidosis III
- IIIs, Mucolipidosis
- Mucolipidosis IIIs
- Pseudo-Hurler Polydystrophy
- Polydystrophy, Pseudo-Hurler
- Pseudo Hurler Polydystrophy
Type I Mucolipidosis- Type I Mucolipidosis
- Mucolipidoses, Type I
- Mucolipidosis, Type I
- Type I Mucolipidoses
- Mucolipidosis I
- Mucolipidosis Is
- Sialidosis
- Sialidoses
- Mucolipidosis Type I
- Mucolipidosis Type Is
- Myoclonus Cherry Red Spot Syndrome
- Cherry Red Spot Myoclonus Syndrome
- Mucolipidosis Type 1
- 1, Mucolipidosis Type
- 1s, Mucolipidosis Type
- Mucolipidosis Type 1s
- Type 1, Mucolipidosis
- Type 1s, Mucolipidosis
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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 |
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2019 | 1 | 0 | 1 | 2021 | 1 | 0 | 1 |
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Below are the most recent publications written about "Mucolipidoses" by people in Profiles.
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Prasanna P, Sriram CS, Rodriguez SH, Kohli U. Cardiovascular involvement in alpha-n-acetyl neuraminidase deficiency syndromes (sialidosis type I and II). Cardiol Young. 2021 May; 31(5):862-864.
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Chapel DB, Choy B, Pytel P, Husain AN, Lastra RR. Mucolipidosis Type II Affecting 1 Fetus and Placental Disk of a Dichorionic-Diamnionic Twin Gestation: A Case Report and Review of the Literature. Int J Gynecol Pathol. 2019 Jul; 38(4):346-352.
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Chitayat D, Meunier CM, Hodgkinson KA, Silver K, Flanders M, Anderson IJ, Little JM, Whiteman DA, Carpenter S. Mucolipidosis type IV: clinical manifestations and natural history. Am J Med Genet. 1991 Dec 01; 41(3):313-8.
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