KEGG DISEASE: Mucolipidosis II

KEGG

DISEASE: Mucolipidosis II

Entry

H00143                      Disease

Name

Mucolipidosis II;
I-cell disease

Supergrp

Defects in lysosomal trafficking [DS:H02128]
Lysosomal storage disease [DS:H01425]

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

Brite

Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C56  Lysosomal diseases
     H00143  Mucolipidosis II

Pathway

Lysosome

Gene

GNPTAB [HSA:79158] [KO:K08239]

Other DBs

ICD-11:

ICD-10:

MeSH:

OMIM:

Reference

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

Reference

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

Reference

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

LinkDB

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