Amish, Mennonite, and Hutterite
Genetic Disorder Database

Mucopolysaccharidosis, type VII (MPS7)

OMIM #: #253220  (Click to access OMIM database)
Disorder: Mucopolysaccharidosis, type VII (MPS7) 
Also known as: Beta-glucuronidase deficiency, Sly syndrome, GUSB deficiency 
Phenotype: Severe cases present at birth; hydrops fetalis, jaundice Normally cases involve; 'coarse' facies, hernia, hepatomegaly, splenomegaly, macrocephaly, congenital heart disease, hearing impairment, developmental delay/mental retardation, growth deficiency, bone growth abnormalities, dysostosis, joint limitation and/or contractures, thoracolumbar kyphoscoliosis, platyspondyly 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
1   Old Colony Mennonite  
Gene: GUSB
Base Change: C>T, at nucleotide 526
Amino Acid Change: leu 176 --> phe
Last updated: 2018-10-12 

Wu B M, Tomatsu S, Fukuda S, Sukegawa K, Orii T, Sly WS. (1994) Overexpression rescues the mutant phenotype of L176F mutation causing beta-glucuronidase deficiency mucopolysaccharidosis in two Mennonite siblings. J. Biol. Chem. 269: 23681-23688.
PubMed ID: 8089138