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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:0001541 | Ascites |
| HP:0001609 | Hoarse voice |
| HP:0001612 | Weak cry |
| HP:0001615 | Hoarse cry |
| HP:0001618 | Dysphonia |
| HP:0001686 | Loss of voice |
| HP:0001760 | Abnormal foot morphology |
| HP:0001789 | Hydrops fetalis |
| HP:0001831 | Short toe |
| HP:0001873 | Thrombocytopenia |
