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mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders
Disease Summary
Associated Targets (1)
Tbio
1
Uniprot Description A form of mucopolysaccharidosis, a group of diseases characterized by excessive accumulation and secretion of oligomucopoloysaccharides. MPSPS is a multisystemic disorder characterized by coarse facial features, dysostosis multiplex, hepatosplenomegaly, respiratory difficulties, mental retardation, developmental delay, pyramidal signs, severe chronic anemia, renal involvement and cardiac defects. Laboratory analyses show proteinuria with glomerular foamy cells, excess secretion of urinary glycosaminoglycans, and extremely high levels of plasma heparan sulphate. Disease onset is in infancy. Most patients die in the first years of life due to cardiorespiratory failure. MPSPS inheritance is autosomal recessive.
Mondo Term and Equivalent IDs
MONDO:0015012: mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders
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Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
OMIM:617303
Orphanet:505248
UMLS:C4310627
MONDO:0015012
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