Sialidosis, type II
| Disorder | |
|---|---|
| OMIM #: | #256550 (Click to access OMIM database) |
| Disorder: | Sialidosis, type II |
| Also known as: | Neuraminidase deficiency |
| Clinical | |
| Phenotype: | short stature, coarse feature, hearing deficiency, cardiomegaly, cardiomyopathy, hepatomegaly, splenomegaly, neonatal ascites, hydrops fetalis, proteinuria, hypotonia |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Testing is available at LHSC. Autosomal recessive |
| Mutations | |
| 1 Old Colony Mennonite | |
| Gene: | NEU1 |
| Base Change: | G>A, at nucleotide 69 |
| Amino Acid Change: | trp 23 --> term |
| Last updated: | 2022-12-29 |
| References |
|---|
| Pattison S, Pankarican M, Rupar CA, Graham FL, Igdoura SA. (2004) Five novel mutations in the lysosomal sialidase gene (NEU1) in type II sialidosis patients and assessment of their impact on enzyme activity and intracellular targeting using adenovirus-mediated expression. Hum Mutat Jan;23(1):32-9. PubMed ID: 14695530 |
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