Disease - Mucopolysaccharidosis 9
- DefinitionA form of mucopolysaccharidosis, a group of lysosomal storage diseases characterized by defective degradation of glycosaminoglycans, resulting in their excessive accumulation and secretion. The diseases are progressive and often display a wide spectrum of clinical severity. MPS9 is an autosomal recessive form characterized by high hyaluronan concentration in the serum. Clinical features include periarticular soft tissue masses, mild short stature and acetabular erosions, and absence of neurological or visceral involvement.
- AcronymMPS9
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Browse 1 entry- Hyaluronidase-1 · Gene: HYAL1 (LUCA1) · Homo sapiens (Human) · EC:3.2.1.35 · 435 amino acids · Evidence at protein level · Annotation score: 5/5