| Symbol
| FLGD
|
| Location
| 8p22
|
| Name
|
Farber lipogranulomatosis |
| Other name(s)
|
acide ceraminase deficiency
N-Laurylsphingosine deacylase deficiency
Farber diseasse |
| Corresponding gene
|
ASAH1
|
| Main clinical features
|
characterized by the triad of painful and deformed joints, periarticular subcutaneous nodules, progressive hoarseness due to laryngeal involvement
associated to moderate nervous dysfuntion, lungs, heart and lymph nodes involvement, often leading to death within the first two years |
| Genetic determination
| autosomal recessive |
| Related entries
| including five subtypes differing in severity and site of major involvement::
* In the classic type 1, the diagnosis can be made almost at a glance by the triad of subcutaneous nodules, arthritis, and laryngeal involvement
* types 2 and 3 survive longer (liver and lung appear not to be involved) with normal intelligence in many of these patients
* type 4 patients present with hepatosplenomegaly and severe debility in the neonatal period and all die before 6 months of age
* type 5, characterized particularly by psychomotor deterioration beginning at age 1 to 2.5 years
|
| Function/system disorder
| metabolism/lysosomal |
| Type
| disease
|