Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
LM-GlycoRepo
Repository for lectin-assisted multimodality data
All Resources
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:0002385 | Paraparesis |
| HP:0002716 | Lymphadenopathy |
| HP:0002788 | Recurrent upper respiratory tract infections |
| HP:0002815 | Abnormality of the knee |
| HP:0002829 | Arthralgia |
| HP:0002910 | Elevated circulating hepatic transaminase concentration |
| HP:0003019 | Abnormality of the wrist |
| HP:0003202 | Skeletal muscle atrophy |
| HP:0003444 | EMG: chronic denervation signs |
| HP:0003640 | CNS foam cells |
