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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:0004322 | Short stature |
| HP:0005483 | Abnormal epiglottis morphology |
| HP:0006511 | Laryngeal stridor |
| HP:0006575 | Intrahepatic cholestasis with episodic jaundice |
| HP:0007470 | Periarticular subcutaneous nodules |
| HP:0007759 | Opacification of the corneal stroma |
| HP:0007957 | Corneal opacity |
| HP:0008947 | Infantile muscular hypotonia |
| HP:0009381 | Short finger |
| HP:0009811 | Abnormality of the elbow |
