Definition: The mucopolysaccharidoses (MPS) are a group of closely related syndromes that result from genetically determined deficiencies of lysosomal enzymes involved in the degradation of mucopolysaccharides (glycosaminoglycans).
They are a group of inherited disorders caused by a lack of specific lysosomal enzymes involved in the degradation of glycosaminoglycans (GAGs), or mucopolysaccharides. The accumulation of partially degraded GAGs causes interference with cell, tissue, and organ (...)
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Disease group (mechanisms)
Articles
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mucopolysaccharidoses
28 January 2006 -
storage diseases
25 October 2005According to the storing cell
hepatocytic storage diseases
macrophagic storage diseases
neuronal storage diseases
According to the storing organ
hepatic storage diseases
splenic storage diseases
pulmonary storage diseases
cerebral storage diseases
renal storage diseases
medullary storage diseases
According to the storing organnelle
lysosomal storage diseases
endoplasmic reticulum storage diseases
cytoplasmic storage diseases
extracellular storage (...) -
Niemann-Pick diseases
16 October 2003Niemann-Pick disease, NPDs
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cryopyrinopathies
13 October 2009Cryopyrinopathies are three disorders, which overlap in their clinical expression, arise from gain-of-function mutations of the gene encoding cryopyrin, an essential component of the inflammasome.
As a result of these mutations, hyperactivation of the inflammasome results in increased caspase-1 generation leading to hypersecretion of IL-1 Another proinflammatory event, activation of IL-6, is mediated via NF-β. The phenotypic differences among the three cryopyrinopathies are related to (...) -
inherited ossifying diseases
13 September 2007Inherited ossifying diseases are relatively uncommon diseases leading ta a great disability and life-threatening complications.
Types
Fibrodysplasia Ossificans Progressiva (FOP) FOP is characterized by the association of skeletal abnormalities mainly in great toes, and enchondral ossifications in tendons and muscles. BMP dysregulation seems to be the main underlying mechanism of the heterotopic ossifications. The genetic basis remain controversial between a mutation on chromosome 4 or (...) -
gangliosidoses
29 April 2016Types
GM1 gangliosidosis
GM2 gangliosidosis
See also
lipidic metabolic diseases -
inherited ichthyoses
27 October 2010inherited ichthyosis
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fibrotic lung diseases
23 August 2004 -
polyposes
14 March 2007polyposis
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XX ovotesticular DSD
7 October 2010XX OT-DSD; XX true hermaphrodism; XX ovotesticular disorder of sex development: XX true hermaphroditism