KEGG   DISEASE: Mucolipidosis III
Entry
H02130                      Disease                                
Name
Mucolipidosis III;
Pseudo-Hurler polydystrophy
  Subgroup
Mucolipidosis type III alpha/beta
Mucolipidosis type III gamma
  Supergrp
Defects in lysosomal trafficking [DS:H02128]
Lysosomal storage disease [DS:H01425]
Description
Mucolipidosis type III (MLIII), or pseudo-Hurler polydystrophy, is an autosomal recessive disorder affecting lysosomal hydrolase trafficking. The clinical phenotype is variable, and some MLIII patients survive to adulthood. MLIII is caused by the deficiency of GlcNac-1-phosphotransferase, that exists as a heterohexamer comprising three subunits, alpha, beta, and gamma. It is encoded by two distinct genes, GNPTAB and GNPTG.
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
     H02130  Mucolipidosis III
Pathway
hsa04142  Lysosome
Gene
(alpha/beta) GNPTAB [HSA:79158] [KO:K08239]
(gamma) GNPTG [HSA:84572] [KO:K10087]
Other DBs
ICD-11: 5C56.20
ICD-10: E77.0
MeSH: D009081
OMIM: 252600 252605
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
Reference
PMID:15633164 (GNPTAB)
  Authors
Steet RA, Hullin R, Kudo M, Martinelli M, Bosshard NU, Schaffner T, Kornfeld S, Steinmann B
  Title
A splicing mutation in the alpha/beta GlcNAc-1-phosphotransferase gene results in an adult onset form of mucolipidosis III associated with sensory neuropathy and cardiomyopathy.
  Journal
Am J Med Genet A 132A:369-75 (2005)
DOI:10.1002/ajmg.a.30498
Reference
PMID:19370764 (GNPTG)
  Authors
Persichetti E, Chuzhanova NA, Dardis A, Tappino B, Pohl S, Thomas NS, Rosano C, Balducci C, Paciotti S, Dominissini S, Montalvo AL, Sibilio M, Parini R, Rigoldi M, Di Rocco M, Parenti G, Orlacchio A, Bembi B, Cooper DN, Filocamo M, Beccari T
  Title
Identification and molecular characterization of six novel mutations in the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTG) gene in patients with mucolipidosis III gamma.
  Journal
Hum Mutat 30:978-84 (2009)
DOI:10.1002/humu.20959
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