Mucolipidosis II alpha/beta
| Disorder | |
|---|---|
| OMIM #: | #252500 (Click to access OMIM database) |
| Disorder: | Mucolipidosis II alpha/beta |
| Also known as: | I-Cell Disease Mucolipidosis II |
| Clinical | |
| Phenotype: | coarse features, otitis media, epicanthal folds, low nasal bridge anteverted nostrils, macroglossia, heart failure, cardiomegaly, cardiomyopathy, respiratory infections, skeletal dysplasia, hypotonia, failure to thrive, short stature, sudden death |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal recessive |
| Mutations | |
| 1 Amish | |
| Gene: | GNPTAB |
| Base Change: | c.3503_3504delTC |
| Amino Acid Change: | p.Leu1168Glnfs*5 |
| 2 Old Order Mennonite | |
| Gene: | GNPTAB |
| Base Change: | c.732_733delAA |
| Amino Acid Change: | |
| Last updated: | 2022-12-07 |
| References |
|---|
| Coutinho MF, Encarnação M, Gomes R, da Silva Santos L, Martins S, Sirois-Gagnon D, Bargal R, Filocamo M, Raas-Rothschild A, Tappino B, Laprise C, Cury GK, Schwartz IV, Artigalás O, Prata MJ, Alves S. (2011) Origin and spread of a common deletion causing mucolipidosis type II: insights from patterns of haplotypic diversity. Clin Genet Sep;80(3):273-80. PubMed ID: 20880125 |
| Speer RR, Ezeanya UC, Beaudoin SJ, Glass KM, Oji-Mmuo CN. (2020) Term Neonate Presenting with the Combined Occurrence of Mucolipidosis Type II and Leigh Syndrome. J Pediatr Genet Jun;9(2):137-141. PubMed ID: 32341820 |
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