KEGG   DISEASE: Defects in lysosomal trafficking
Entry
H02128                      Disease                                
Name
Defects in lysosomal trafficking
  Subgroup
Niemann-Pick disease type C [DS:H00136]
Mucolipidosis II (MLII) [DS:H00143]
Mucolipidosis III [DS:H02130]
Mucolipidosis IV [DS:H00144]
Hermansky-Pudlak syndrome [DS:H00166]
Chediak-Higashi syndrome [DS:H02021]
  Supergrp
Lysosomal storage disease [DS:H01425]
Description
Defects in lysosomal trafficking are lysosomal storage disorders caused by the genetic defect of non-lysosomal proteins. Niemann-Pick type C leads to lysosomal storage of unesterified cholesterol and gangliosides. Mucolipidosis II/III are diseases of lysosomal protein trafficking. Mucolipidosis IV affects the LDL-receptor mediated endocytosis pathway. Hermansky-Pudlak syndrome and Chediak-Higashi syndrome are disorders of vesicle formation and trafficking.
Category
Inherited metabolic disorder
Brite
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C56  Lysosomal diseases
     H02128  Defects in lysosomal trafficking
Other DBs
ICD-11: 5C56.Y
MeSH: D016464
Reference
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
Reference
PMID:11757585
  Authors
Jansen SM, Groener JE, Bax W, Poorthuis BJ
  Title
Delayed lysosomal metabolism of lipids in mucolipidosis type IV fibroblasts after LDL-receptor-mediated endocytosis.
  Journal
J Inherit Metab Dis 24:577-86 (2001)
DOI:10.1023/A:1012467827719
Reference
PMID:11487012
  Authors
Huizing M, Anikster Y, Gahl WA
  Title
Hermansky-Pudlak syndrome and Chediak-Higashi syndrome: disorders of vesicle formation and trafficking.
  Journal
Thromb Haemost 86:233-45 (2001)
DOI:10.1055/s-0037-1616221
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