Multiple Sulfatase Deficiency Disease
"Multiple Sulfatase Deficiency Disease" 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.
An inherited metabolic disorder characterized by the intralysosomal accumulation of sulfur-containing lipids (sulfatides) and MUCOPOLYSACCHARIDES. Excess levels of both substrates are present in urine. This is a disorder of multiple sulfatase (arylsulfatases A, B, and C) deficiency which is caused by the mutation of sulfatase-modifying factor-1. Neurological deterioration is rapid.
| Descriptor ID |
D052517
|
| MeSH Number(s) |
C10.228.140.163.100.435.825.850.750 C16.320.565.189.435.825.850.750 C16.320.565.398.641.803.925.750 C16.320.565.595.554.825.850.750 C18.452.132.100.435.825.850.750 C18.452.584.687.803.925.750 C18.452.648.189.435.825.850.750 C18.452.648.398.641.803.925.750 C18.452.648.595.554.825.850.750
|
| Concept/Terms |
Multiple Sulfatase Deficiency Disease- Multiple Sulfatase Deficiency Disease
- Multiple Sulfatase Deficiency
- Multiple Sulfatase Deficiencies
- Multiple Sulphatase Deficiency Disease
- Mucosulfatidosis
Sulfatidosis, Juvenile, Austin Type- Sulfatidosis, Juvenile, Austin Type
- Sulfatidosis Juvenile, Austin Type
- Juvenile Sulfatidosis
- Juvenile Sulfatidoses
- Sulfatidoses, Juvenile
- Sulfatidosis, Juvenile
|
Below are MeSH descriptors whose meaning is more general than "Multiple Sulfatase Deficiency Disease".
- Diseases [C]
- 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]
- Sphingolipidoses [C10.228.140.163.100.435.825]
- Sulfatidosis [C10.228.140.163.100.435.825.850]
- Multiple Sulfatase Deficiency Disease [C10.228.140.163.100.435.825.850.750]
- 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]
- Sphingolipidoses [C16.320.565.189.435.825]
- Sulfatidosis [C16.320.565.189.435.825.850]
- Multiple Sulfatase Deficiency Disease [C16.320.565.189.435.825.850.750]
- Lipid Metabolism, Inborn Errors [C16.320.565.398]
- Lipidoses [C16.320.565.398.641]
- Sphingolipidoses [C16.320.565.398.641.803]
- Sulfatidosis [C16.320.565.398.641.803.925]
- Multiple Sulfatase Deficiency Disease [C16.320.565.398.641.803.925.750]
- Lysosomal Storage Diseases [C16.320.565.595]
- Lysosomal Storage Diseases, Nervous System [C16.320.565.595.554]
- Sphingolipidoses [C16.320.565.595.554.825]
- Sulfatidosis [C16.320.565.595.554.825.850]
- Multiple Sulfatase Deficiency Disease [C16.320.565.595.554.825.850.750]
- 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]
- Sphingolipidoses [C18.452.132.100.435.825]
- Sulfatidosis [C18.452.132.100.435.825.850]
- Multiple Sulfatase Deficiency Disease [C18.452.132.100.435.825.850.750]
- Lipid Metabolism Disorders [C18.452.584]
- Lipidoses [C18.452.584.687]
- Sphingolipidoses [C18.452.584.687.803]
- Sulfatidosis [C18.452.584.687.803.925]
- Multiple Sulfatase Deficiency Disease [C18.452.584.687.803.925.750]
- Metabolism, Inborn Errors [C18.452.648]
- Brain Diseases, Metabolic, Inborn [C18.452.648.189]
- Lysosomal Storage Diseases, Nervous System [C18.452.648.189.435]
- Sphingolipidoses [C18.452.648.189.435.825]
- Sulfatidosis [C18.452.648.189.435.825.850]
- Multiple Sulfatase Deficiency Disease [C18.452.648.189.435.825.850.750]
- Lipid Metabolism, Inborn Errors [C18.452.648.398]
- Lipidoses [C18.452.648.398.641]
- Sphingolipidoses [C18.452.648.398.641.803]
- Sulfatidosis [C18.452.648.398.641.803.925]
- Multiple Sulfatase Deficiency Disease [C18.452.648.398.641.803.925.750]
- Lysosomal Storage Diseases [C18.452.648.595]
- Lysosomal Storage Diseases, Nervous System [C18.452.648.595.554]
- Sphingolipidoses [C18.452.648.595.554.825]
- Sulfatidosis [C18.452.648.595.554.825.850]
- Multiple Sulfatase Deficiency Disease [C18.452.648.595.554.825.850.750]
Below are MeSH descriptors whose meaning is more specific than "Multiple Sulfatase Deficiency Disease".
This graph shows the total number of publications written about "Multiple Sulfatase Deficiency Disease" by people in this website by year, and whether "Multiple Sulfatase Deficiency Disease" 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 |
|---|
| 2007 | 1 | 1 | 2 |
| 2008 | 1 | 0 | 1 |
| 2009 | 0 | 1 | 1 |
| 2011 | 1 | 1 | 2 |
| 2012 | 2 | 0 | 2 |
| 2014 | 3 | 0 | 3 |
| 2018 | 1 | 0 | 1 |
| 2020 | 1 | 0 | 1 |
| 2022 | 1 | 0 | 1 |
| 2023 | 1 | 0 | 1 |
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click here.
Below are the most recent publications written about "Multiple Sulfatase Deficiency Disease" by people in Profiles.
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Drug screening identifies tazarotene and bexarotene as therapeutic agents in multiple sulfatase deficiency. EMBO Mol Med. 2023 03 08; 15(3):e14837.
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New mouse models with hypomorphic SUMF1 variants mimic attenuated forms of multiple sulfatase deficiency. J Inherit Metab Dis. 2023 03; 46(2):335-347.
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A systematic cross-sectional survey of multiple sulfatase deficiency. Mol Genet Metab. 2020 08; 130(4):283-288.
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Complex care of individuals with multiple sulfatase deficiency: Clinical cases and consensus statement. Mol Genet Metab. 2018 03; 123(3):337-346.
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A non-conserved miRNA regulates lysosomal function and impacts on a human lysosomal storage disorder. Nat Commun. 2014 Dec 19; 5:5840.
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Multiple sulfatase deficiency with neonatal manifestation. Ital J Pediatr. 2014 Dec 17; 40:86.
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Neonatal multiple sulfatase deficiency with a novel mutation and review of the literature. Turk J Pediatr. 2014 Jul-Aug; 56(4):418-22.
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Astrocyte dysfunction triggers neurodegeneration in a lysosomal storage disorder. Proc Natl Acad Sci U S A. 2012 Aug 28; 109(35):E2334-42.
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Impaired parkin-mediated mitochondrial targeting to autophagosomes differentially contributes to tissue pathology in lysosomal storage diseases. Hum Mol Genet. 2012 Apr 15; 21(8):1770-81.
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Transcriptional activation of lysosomal exocytosis promotes cellular clearance. Dev Cell. 2011 Sep 13; 21(3):421-30.