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Sanfilippo syndrome type A

Disease Summary
Associated Targets (5)
Tbio

5


GARD Rare
Mondo Description A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme heparan sulfate sulfatase. It is characterized by behavioral changes, sleep disturbances, mental developmental delays and seizures.
Uniprot Description A severe form of mucopolysaccharidosis type 3, an autosomal recessive lysosomal storage disease due to impaired degradation of heparan sulfate. MPS3 is characterized by severe central nervous system degeneration, but only mild somatic disease. Onset of clinical features usually occurs between 2 and 6 years; severe neurologic degeneration occurs in most patients between 6 and 10 years of age, and death occurs typically during the second or third decade of life. MPS3A is characterized by earlier onset, rapid progression of symptoms and shorter survival.
Mondo Term and Equivalent IDs
MONDO:0009655:  Sanfilippo syndrome type A
DOID:0111395: 
GARD:0002649: 
GARD:0007071: 
NCIT:C84897: 
Orphanet:79269: 
SCTID:41572006: 
UMLS:C0086647: