Farber disease


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dis·sem·i·nat·ed lip·o·gran·u·lo·ma·to·sis

[MIM*228000]
a form of mucolipidosis that develops soon after birth because of a deficiency of ceramidase; characterized by swollen joints, subcutaneous nodules, lymphadenopathy, and accumulation in lysosomes of affected cells of PAS-positive lipid consisting of ceramide.

Farber disease

(far'ber)
[Sidney Farber, U.S. pediatric pathologist, 1903–1973]
A rare autosomal recessive lysosomal storage disease in which abnormal by-products of lipid metabolism accumulate in the brain. It is one of the lipid storage diseases, which include Gaucher's disease and Niemann-Pick disease.
Synonym: ceramidase deficiency

Farber,

Sidney, U.S. pediatric pathologist, 1903-1973.
Farber disease - a form of mucolipidosis, developing soon after birth because of deficiency of ceramidase. Synonym(s): disseminated lipogranulomatosis; Farber syndrome
Farber syndrome - Synonym(s): Farber disease
References in periodicals archive ?
Biopharmaceutical company Enzyvant revealed on Thursday that it has passed the US Food and Drug Administration's (FDA) Rare Pediatric Disease and Fast Track designations for RVT-801 for the treatment of Farber disease.
Farber disease is rare and thought to be significantly underdiagnosed, with patients often misdiagnosed with juvenile idiopathic arthritis.
In conjunction, RVT-801 is a recombinant form of human acid ceramidase (rhAC) being developed as a potential enzyme replacement therapy for acid ceramidase deficiency, manifesting as Farber disease. In a mouse model of Farber disease, RVT-801 was shown to be biologically active, reducing accumulation of ceramides and related inflammation in tissues, said the company.
Salvayre, "Neurodegenerative course in-ceramidase deficiency (Farber disease) correlates with the residual lysosomal ceramide turnover in cultured living patient cells," Journal of the Neurological Sciences, vol.
Two such childhood diseases are caused by recessive inherited mutations in the gene encoding rhAC: Farber disease, characterised by severe joint pain, inflammation and arthritis, and, a form of spinal muscular atrophy with epilepsy (SMA-PME), found in adolescents, and characterised by progressive muscle weakness.
The company is currently working on RVT-802 for complete DiGeorge Anomaly and RVT-801, an investigational enzyme replacement therapy for the treatment of Farber disease.
The company is currently working on RVT-802, an investigational tissue-based therapy under study for the treatment of primary immunodeficiency associated with complete DiGeorge Anomaly and RVT-801, an investigational enzyme replacement therapy for the treatment of Farber disease.