Farber Lipogranulomatosis

A sphingolipidosis subtype that is characterized by the histological appearance of granulomatous deposits in tissues. It results from the accumulation of CERAMIDES in various tissues due to an inherited deficiency of ACID CERAMIDASE.

Also Known As:

Networked: 52 relevant articles (1 outcomes, 2 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Farber Lipogranulomatosis
2.	Type C Niemann-Pick Disease (Niemann Pick Disease, Type C)
3.	Gaucher Disease (Gaucher's Disease)
4.	Sphingolipidoses (Sphingolipidosis)
5.	Arthralgia (Joint Pain)

Experts

1.	Levade, Thierry: 7 articles (08/2014 - 11/2008)
2.	Schuchman, Edward H: 5 articles (06/2015 - 02/2002)
3.	He, Xingxuan: 4 articles (06/2015 - 02/2002)
4.	Medin, Jeffrey A: 4 articles (08/2014 - 11/2008)
5.	Carpentier, Stéphane: 4 articles (06/2013 - 11/2008)
6.	Sandhoff, Konrad: 4 articles (01/2012 - 02/2002)
7.	Fabrias, Gemma: 2 articles (08/2014 - 06/2013)
8.	Casas, Josefina: 2 articles (08/2014 - 06/2013)
9.	Dworski, Shaalee: 2 articles (08/2014 - 06/2013)
10.	Garcia, Virginie: 2 articles (06/2013 - 07/2012)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Farber Lipogranulomatosis:

1.	Acid CeramidaseIBA 04/11/2015 - "Deficiency in acid ceramidase is the molecular basis of Farber disease. " 01/01/2014 - "Farber disease is an inherited metabolic disorder caused by mutations in the acid ceramidase gene, which leads to ceramide accumulation in lysosomes. " 06/01/2013 - "Farber disease (FD) is a severe inherited disorder of lipid metabolism characterized by deficient lysosomal acid ceramidase (ACDase) activity, resulting in ceramide accumulation. " 06/01/2012 - "Farber disease (MIM 228000) is a rare autosomal recessive condition caused by deficiency of lysosomal acid ceramidase (EC 3.5.1.23). " 12/01/2010 - "A simple fluorogenic method for determination of acid ceramidase activity and diagnosis of Farber disease."
2.	CeramidasesIBA 04/01/1995 - "Sulfatide and sphingomyelin loading of living cells as tools for the study of ceramide turnover by lysosomal ceramidase--implications for the diagnosis of Farber disease." 10/04/2001 - "The role of ceramide in receptor- and stress-induced apoptosis studied in acidic ceramidase-deficient Farber disease cells." 04/01/1995 - "Our data with this novel method show that sphingomyelin loading of intact living cells is a simple, alternative means for determining ceramide degradation by lysosomal ceramidase and for diagnosing Farber disease." 08/30/1993 - "The time course of degradation of a radiolabelled natural ceramide has been studied in intact, living lymphoid cells and skin fibroblasts from normal individuals and from patients affected with Farber disease, an inborn disorder of ceramide metabolism due to deficient activity of lysosomal ceramidase. " 08/01/1982 - "Substrate-specificities of acid and alkaline ceramidases in fibroblasts from patients with Farber disease and controls."
3.	N-lauroylsphingosineIBA 07/01/1989 - "Leukocyte and plasma N-laurylsphingosine deacylase (ceramidase) in Farber disease." 08/01/1982 - "Comparative kinetic studies of acid ceramidase activity with N-lauroylsphingosine and N-oleoylsphingosine demonstrated about 5 (2-12)-fold and 7 (4-17)-fold higher K(m) values in fibroblasts from patients with Farber disease as compared with normal controls. " 08/01/1982 - "N-Lauroylsphingosine, towards which acid ceramidase activity in control fibroblasts was about 10 times higher than that towards N-oleoylsphingosine, may serve as a better substrate for enzymic diagnosis of Farber disease as well as for further characterization of the catalytically defective acid ceramidase."
4.	oleoylsphingosineIBA 08/01/1982 - "Comparative kinetic studies of acid ceramidase activity with N-lauroylsphingosine and N-oleoylsphingosine demonstrated about 5 (2-12)-fold and 7 (4-17)-fold higher K(m) values in fibroblasts from patients with Farber disease as compared with normal controls. " 08/01/1982 - "N-Lauroylsphingosine, towards which acid ceramidase activity in control fibroblasts was about 10 times higher than that towards N-oleoylsphingosine, may serve as a better substrate for enzymic diagnosis of Farber disease as well as for further characterization of the catalytically defective acid ceramidase."
5.	Farber's diseaseIBA 05/01/2012 - "Farber disease is a rare inherited lysosomal storage disorder caused by ceramidase deficiency that leads to accumulation of ceramide in various tissues. " 04/10/1998 - "The metabolic fate of radiolabelled ceramide produced by intralysosomal hydrolysis of LDL-associated [ceramide-3H]sphingomyelin or [stearoyl-1-(14)C]sulfatide was examined in fibroblasts from control individuals and a patient with inborn lysosomal ceramidase deficiency (Farber disease). " 12/01/1995 - "Neurodegenerative course in ceramidase deficiency (Farber disease) correlates with the residual lysosomal ceramide turnover in cultured living patient cells." 07/01/1987 - "Farber's disease (lysosomal acid ceramidase deficiency)." 08/01/2000 - "Bone marrow transplantation for infantile ceramidase deficiency (Farber disease)."
6.	SphingolipidsIBA 04/01/2002 - "Using delayed extraction matrix-assisted laser desorption ionization time-of-flight mass spectrometry (DE MALDI-TOF-MS), we analyzed sphingolipids in cultured skin fibroblasts from patients with sphingolipidoses, including: (a) Farber disease (FD, acid ceramidase deficiency); (b) Gaucher disease (GD); (c) Niemann-Pick disease type C (NPDC); and (d) GM1-gangliosidosis (GM1G). " 08/06/1999 - "We analyzed sphingolipids in tissues from patients with sphingolipidosis, including Farber disease (FD, acid ceramidase deficiency), Gaucher disease (GD), Niemann-Pick disease type C (NPDC), and GM1-gangliosidosis (GM1G), using delayed extraction matrix-assisted laser desorption ionization time-of-flight mass spectrometry (DE MALDI-TOF-MS). " 12/01/1997 - "De novo synthesis and turnover of endogenous ceramide in cultured skin fibroblasts from patients affected with Farber lipogranulomatosis were studied by biosynthetical labeling of cellular sphingolipids with [14C]serine. "
7.	CeramidesIBA 06/01/1971 - "Ceramides in a patient with lipogranulomatosis (Farber's disease) with chronic course." 08/19/2014 - "Using kidney tissues from a new Farber disease mouse model in which ceramides of all acyl chain lengths and other sphingolipid metabolites accumulate in tissues, specific ceramides and sphingomyelins were identified by on-tissue isolation and fragmentation, coupled with an on-tissue digestion by ceramidase or sphingomyelinase. " 08/01/1982 - "Deficiency of acid ceramidase activity in fibroblasts from patients with Farber disease and intermediate activities in obligate heterozygotes were demonstrated with all ceramides examined except for N-hexanoylsphingosine (C(6:0)/C(18:1)), whereas alkaline ceramidase activity was unaffected. "
8.	Complementary DNA (cDNA)IBA 06/01/2015 - "The cDNA and gene (ASAH1) encoding AC have been isolated, several mouse models of AC deficiency have been constructed, and the recombinant enzyme is currently being manufactured for the treatment of Farber disease and SMA-PME. " 12/20/1996 - "A homoallelic point mutation (T222K) was also identified in the AC gene of a patient suffering from Farber disease, further confirming the authenticity of the full-length cDNA."
9.	Sphingomyelin Phosphodiesterase (Sphingomyelinase)IBA 01/01/2012 - "Purification of lysosomal acid sphingomyelinase and ceramidase and analysis of their gene structures were the prerequisites for the clarification of Niemann-Pick and Farber disease. " 08/19/2014 - "Using kidney tissues from a new Farber disease mouse model in which ceramides of all acyl chain lengths and other sphingolipid metabolites accumulate in tissues, specific ceramides and sphingomyelins were identified by on-tissue isolation and fragmentation, coupled with an on-tissue digestion by ceramidase or sphingomyelinase. "
10.	Lysergic Acid Diethylamide (LSD)IBA 06/01/2011 - "Farber disease is a rare lysosomal storage disorder (LSD) that manifests due to acid ceramidase (AC) deficiencies and ceramide accumulation. " 11/01/2008 - "Farber disease is a rare lysosomal storage disorder (LSD) caused by a deficiency of acid ceramidase (AC) activity and subsequent accumulation of ceramide. "

Therapies and Procedures

1.	Transplantation (Transplant Recipients) 01/01/2004 - "We report the first successful hematopoietic stem cell transplantations in 2 patients with Farber disease type 2/3, resulting in resolution of symptoms." 11/01/2008 - "In vivo delivery of human acid ceramidase via cord blood transplantation and direct injection of lentivirus as novel treatment approaches for Farber disease."
2.	Stem Cell Transplantation 10/01/2014 - "Odontoid infiltration and spinal compression in Farber Disease: reversal by haematopoietic stem cell transplantation." 08/01/2014 - "Farber disease in infancy resembling juvenile idiopathic arthritis: identification of two new mutations and a good early response to allogeneic haematopoietic stem cell transplantation."
3.	Hematopoietic Stem Cell Transplantation 01/01/2007 - "Allogeneic hematopoietic stem cell transplantation provides a promising approach for Farber Disease patients without neurological involvement." 01/01/2007 - "As the inflammatory component of this disorder is caused by some kind of leukocyte dysregulation, allogeneic hematopoietic stem cell transplantation can restore a healthy immune system and thus may provide a curative option in Farber Disease patients without neurological involvement. " 01/01/2004 - "Successful hematopoietic stem cell transplantation in Farber disease." 01/01/2007 - "After myeloablative, busulfan-based preparative regimens, four Farber Disease patients without neurological involvement received an allogeneic hematopoietic stem cell transplantation from related and unrelated donors. "
4.	Lasers (Laser) 04/01/2002 - "Using delayed extraction matrix-assisted laser desorption ionization time-of-flight mass spectrometry (DE MALDI-TOF-MS), we analyzed sphingolipids in cultured skin fibroblasts from patients with sphingolipidoses, including: (a) Farber disease (FD, acid ceramidase deficiency); (b) Gaucher disease (GD); (c) Niemann-Pick disease type C (NPDC); and (d) GM1-gangliosidosis (GM1G). " 08/06/1999 - "We analyzed sphingolipids in tissues from patients with sphingolipidosis, including Farber disease (FD, acid ceramidase deficiency), Gaucher disease (GD), Niemann-Pick disease type C (NPDC), and GM1-gangliosidosis (GM1G), using delayed extraction matrix-assisted laser desorption ionization time-of-flight mass spectrometry (DE MALDI-TOF-MS). "
5.	Transplants (Transplant) 08/01/2000 - "We performed an allogeneic bone marrow transplant (BMT) from an HLA-identical heterozygous sister in a 9.5-month-old female with minimally symptomatic Farber disease who received a pre-transplant regimen of busulfan and cyclophosphamide. "