| Entry |
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| Name |
Farber lipogranulomatosis;
Farber disease |
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| Supergrp |
Defects in the degradation of sphingomyelin [DS: H00424] Sphingolipidosis [DS: H00423] Lysosomal storage disease [DS: H01425] |
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| Description |
Farber lipogranulomatosis is an autosomal recessive disorder caused by acid ceramidase deficiency.
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| Category |
Inherited metabolic disorder, Lysosomal disease
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| Brite |
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-based classification of diseases [BR:br08402]
Lipid/glycolipid metabolism
nt06014 Sphingolipid degradation
H00138 Farber lipogranulomatosis
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| Pathway |
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| Network |
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| Gene |
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| Other DBs |
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| Reference |
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| Authors |
Heese BA |
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| Title |
Current strategies in the management of lysosomal storage diseases. |
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| Journal |
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| Reference |
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| Authors |
Park JH, Schuchman EH |
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| Title |
Acid ceramidase and human disease. |
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| Journal |
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| Reference |
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| Authors |
Wenger DA, Coppola S, Liu SL |
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| Title |
Insights into the diagnosis and treatment of lysosomal storage diseases. |
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| Journal |
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| Reference |
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| Authors |
Bar J, Linke T, Ferlinz K, Neumann U, Schuchman EH, Sandhoff K |
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| Title |
Molecular analysis of acid ceramidase deficiency in patients with Farber disease. |
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| Journal |
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| LinkDB |
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