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Hurler-Scheie syndrome

Disease Summary
Associated Targets (1)
Tbio

1


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Mondo Description Hurler-Scheie syndrome is the intermediate form of mucopolysaccharidosis type 1 (MPS1) between the two extremes Hurler syndrome and Scheie syndrome ; it is a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development.
Uniprot Description A form of mucopolysaccharidosis type 1, a rare lysosomal storage disease characterized by progressive physical deterioration with urinary excretion of dermatan sulfate and heparan sulfate. MPS1H/S represents an intermediate phenotype of the MPS1 clinical spectrum. It is characterized by relatively little neurological involvement, but most of the somatic symptoms described for severe MPS1 develop in the early to mid-teens, causing considerable loss of mobility.
Mondo Term and Equivalent IDs
MONDO:0011759:  Hurler-Scheie syndrome
DOID:0111389: 
GARD:0012560: 
NCIT:C122782: 
Orphanet:93476: 
SCTID:73123008: 
UMLS:C0086431: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found