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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:0001270 | Motor delay |
| HP:0001482 | Subcutaneous nodule |
| HP:0001744 | Splenomegaly |
| HP:0002240 | Hepatomegaly |
| HP:0003049 | Ulnar deviation of the wrist |
| HP:0003676 | Progressive |
| HP:0009134 | Osteolysis involving bones of the feet |
| HP:0009771 | Osteolytic defects of the phalanges of the hand |
| HP:0010501 | Limitation of knee mobility |
| HP:0011463 | Childhood onset |
