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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Farber lipogranulomatosis
Summary
- Synonym
-
- Farber disease
- N-laurylsphingosine deacylase deficiency
- acid ceramidase deficiency
- Definition
- A lipid storage disease that is characterized by abnormalities in swallowing, cognition, joint function, and central nervous system due to a deficiency in the enzyme ceramidase that results in sphingolipids deposition.
- Super Class
- lipid storage disease
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q13510 | Acid ceramidase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001257 | Spasticity |
| HP:0001263 | Global developmental delay |
| HP:0001336 | Myoclonus |
| HP:0001369 | Arthritis |
| HP:0001371 | Flexion contracture |
| HP:0001386 | Joint swelling |
| HP:0001395 | Hepatic fibrosis |
| HP:0001399 | Hepatic failure |
| HP:0001433 | Hepatosplenomegaly |
| HP:0001508 | Failure to thrive |
