| H00143 | |
| H number | H00143 |
| Name | Mucolipidosis II; I-cell disease |
| Description | Mucolipidosis type II, also known as I-cell disease, is an autosomal recessive lysosomal storage disorder caused by the deficiency of N-acetylglucosamine-1-phosphate transferase which is multimeric enzyme involved in phosphotransfer of UDP-N-acetylglucosamine to lysosomal enzymes (glycoproteins). It is the necessary process for the transport of newly synthesized lysosomal proteins to the lysosomes. |
| Category | Inherited metabolic disorder, Lysosomal disease |
| Network | - |
| Gene | GNPTAB [HSA:79158] [KO:K08239] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 5C56.20 ICD-10: E77.0 MeSH: D009081 OMIM: 252500 |
| Reference | PMID:16465621 AUTHORS Kudo M, Brem MS, Canfield WM TITLE Mucolipidosis II (I-cell disease) and mucolipidosis IIIA (classical pseudo-hurler polydystrophy) are caused by mutations in the GlcNAc-phosphotransferase alpha / beta -subunits precursor gene. JOURNAL Am J Hum Genet 78:451-63 (2006) DOI:10.1086/500849 PMID:16630736 AUTHORS Bargal R, Zeigler M, Abu-Libdeh B, Zuri V, Mandel H, Ben Neriah Z, Stewart F, Elcioglu N, Hindi T, Le Merrer M, Bach G, Raas-Rothschild A TITLE When Mucolipidosis III meets Mucolipidosis II: GNPTA gene mutations in 24 patients. JOURNAL Mol Genet Metab 88:359-63 (2006) DOI:10.1016/j.ymgme.2006.03.003 PMID:19124046 AUTHORS Dierks T, Schlotawa L, Frese MA, Radhakrishnan K, von Figura K, Schmidt B TITLE Molecular basis of multiple sulfatase deficiency, mucolipidosis II/III and Niemann-Pick C1 disease - Lysosomal storage disorders caused by defects of non-lysosomal proteins. JOURNAL Biochim Biophys Acta 1793:710-25 (2009) DOI:10.1016/j.bbamcr.2008.11.015 |