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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:0010729 | Cherry red spot of the macula |
| HP:0011842 | Abnormal skeletal morphology |
| HP:0011968 | Feeding difficulties |
| HP:0012379 | Abnormal circulating enzyme concentration or activity |
| HP:0012444 | Brain atrophy |
| HP:0012469 | Infantile spasms |
| HP:0100750 | Atelectasis |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000737 | Irritability |
| HP:0001187 | Hyperextensibility of the finger joints |
