KEGG   DISEASE: Farber lipogranulomatosis
Entry
H00138                      Disease                                

Name
Farber lipogranulomatosis;
Farber disease
  Supergrp
Defects in the degradation of sphingomyelin [DS:H00424]
Sphingolipidosis [DS:H00423]
Lysosomal storage disease [DS:H01425]
Description
Farber lipogranulomatosis is an autosomal recessive disorder caused by acid ceramidase deficiency.
Category
Inherited metabolic disease; Lysosomal storage disease; Nervous system disease
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Congenital disorders of lipid/glycolipid metabolism
   H00138  Farber lipogranulomatosis
  Lysosomal storage diseases
   H00138  Farber lipogranulomatosis
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C56  Lysosomal diseases
     H00138  Farber lipogranulomatosis
Pathway
hsa00600  Sphingolipid metabolism
hsa04142  Lysosome
Network
nt06014  Sphingolipid degradation
  Element
N00651  ASAH1 deficiency in sphingolipid degradation
Gene
ASAH1; acid ceramidase [HSA:427] [KO:K12348]
Other DBs
ICD-11: 5C56.0Y
ICD-10: E75.2
MeSH: D055577
OMIM: 228000
Reference
  Authors
Heese BA
  Title
Current strategies in the management of lysosomal storage diseases.
  Journal
Semin Pediatr Neurol 15:119-26 (2008)
DOI:10.1016/j.spen.2008.05.005
Reference
  Authors
Park JH, Schuchman EH
  Title
Acid ceramidase and human disease.
  Journal
Biochim Biophys Acta 1758:2133-8 (2006)
DOI:10.1016/j.bbamem.2006.08.019
Reference
  Authors
Wenger DA, Coppola S, Liu SL
  Title
Insights into the diagnosis and treatment of lysosomal storage diseases.
  Journal
Arch Neurol 60:322-8 (2003)
DOI:10.1001/archneur.60.3.322
Reference
  Authors
Bar J, Linke T, Ferlinz K, Neumann U, Schuchman EH, Sandhoff K
  Title
Molecular analysis of acid ceramidase deficiency in patients with Farber disease.
  Journal
Hum Mutat 17:199-209 (2001)
DOI:10.1002/humu.5

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