Mucopolysaccharidosis, type VII
| Disorder | |
|---|---|
| OMIM #: | #253220 (Click to access OMIM database) |
| Disorder: | Mucopolysaccharidosis, type VII |
| Also known as: | MPS7 Beta-glucuronidase deficiency Sly syndrome GUSB deficiency |
| Clinical | |
| Phenotype: | Severe cases: hydrops fetalis, jaundice Normal cases: coarse features, hernia, hepatomegaly, splenomegaly, macrocephaly, congenital heart defect, hearing impairment, developmental delay, growth deficiency, bone growth abnormalities, dysostosis, contractures, thoracolumbar kyphoscoliosis, other skeletal defects, platyspondyly |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal recessive |
| Mutations | |
| 1 Old Colony Mennonite | |
| Gene: | GUSB |
| Base Change: | C>T, at nucleotide 526 |
| Amino Acid Change: | leu 176 --> phe |
| Last updated: | 2023-02-02 |
| References |
|---|
| 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 |
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