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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:0001903 | Anemia |
| HP:0001954 | Recurrent fever |
| HP:0001999 | Abnormal facial shape |
| HP:0002028 | Chronic diarrhea |
| HP:0002086 | Abnormality of the respiratory system |
| HP:0002093 | Respiratory insufficiency |
| HP:0002098 | Respiratory distress |
| HP:0002207 | Diffuse reticular or finely nodular infiltrations |
| HP:0002300 | Mutism |
| HP:0002376 | Developmental regression |
