Learn more about Farber disease and connect with the community.
Please note: Aceragen does not monitor or manage these online resources.
These community resources are related to rare disease, genetic, or similar lysosomal storage disorders.
Maintains an anonymous and free clinical research registry for patients
Private Facebook Group for those living or caring for those living with an ASAH1-related condition
Private Facebook Group to support families and individuals living with SMA
These rare disease resources intend to guide people to supportive and educational information.
Education, resources, and support for children and their families living with neurologic conditions
Expert review articles by gene
Resources and information for people living with genetic diseases by the National Institutes for Health, includes links to financial resources, research registries, and news and events
Resources on navigating healthcare system and advocacy for the rare communities
Rare Concierge Patient Services helps diagnosed and undiagnosed families find trusted information and connections
A database of curated ASAH1 variants with evidence cited in the medical literature
Resources to help people understand genetics, and genetic diseases, including Farber disease
Resources and support for families living with Farber disease and related lysosomal diseases
Information about Farber disease and other rare diseases for patients and families
Maintains a chart of all lysosomal storage disorders with links for more information. Information about Farber disease and other rare diseases for patients and families
List of fully referenced Farber disease information
Repository of rare disease information
The articles below represent relevant and recent articles about Farber disease and ASAH1-related genetic conditions. By clicking on this Farber disease literature search, you may find additional medical information.
Dyment DA, Bennett SAL, Medin JA, Levade T. ASAH1-Related Disorders. 2018 Mar 29. In: Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2022. PMID: 29595935.
Ehlert K, Levade T, Di Rocco M, Lanino E, Albert MH, Führer M, Jarisch A, Güngör T, Ayuk F, Vormoor J. Allogeneic hematopoietic cell transplantation in Farber disease. J Inherit Metab Dis. 2019 Mar;42(2):286-294. PMID: 30815900
Elsea SH, Solyom A, Martin K, Harmatz P, Mitchell J, Lampe C, Grant C, Selim L, Mungan NO, Guelbert N, Magnusson B, Sundberg E, Puri R, Kapoor S, Arslan N, DiRocco M, Zaki M, Ozen S, Mahmoud IG, Ehlert K, Hahn A, Gokcay G, Torcoletti M, Ferreira CR. ASAH1 pathogenic variants associated with acid ceramidase deficiency: Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy. Hum Mutat. 2020 Sep;41(9):1469-1487. PMID: 32449975.
Ferreira CR, Gahl WA. Lysosomal storage diseases. Transl Sci Rare Dis. 2017 May 25;2(1-2):1-71. PMID: 29152458.
Yu FPS, Amintas S, Levade T, Medin JA. Acid ceramidase deficiency: Farber disease and SMA-PME. Orphanet J Rare Dis. 2018 Jul 20;13(1):121. PMID: 30029679.
Zhou J, Tawk M, Tiziano FD, Veillet J, Bayes M, Nolent F, Garcia V, Servidei S, Bertini E, CastroGiner F, Renda Y, Carpentier S, Andrieu-Abadie N, Gut I, Levade T, Topaloglu H, Melki J. Spinal muscular atrophy associated with progressive myoclonic epilepsy is caused by mutations in ASAH1. Am J Hum Genet. 2012 Jul 13;91(1):5-14. PMID: 22703880.
Hugle, B, Mueller L, Levade T. “Why Farber Disease May be Misdiagnosed as Juvenile Idiopathic Arthritis”. The Rheumatologist. 2014 June.
Teoh HL, Solyom A, Schuchman EH, Mowat D, Roscioli T, Farrar M, Sampaio H. Polyarticular Arthritis and Spinal Muscular Atrophy in Acid Ceramidase Deficiency. Pediatrics. 2016 Oct;138(4):e20161068. PMID: 27650050.
Bonafé L, Kariminejad A, Li J, Royer-Bertrand B, Garcia V, Mahdavi S, Bozorgmehr B, Lachman RL, Mittaz-Crettol L, Campos-Xavier B, Nampoothiri S, Unger S, Rivolta C, Levade T, Superti-Furga A. Brief Report: Peripheral Osteolysis in Adults Linked to ASAH1 (Acid Ceramidase) Mutations: A New Presentation of Farber’s Disease. Arthritis Rheumatol. 2016 Sep;68(9):2323-7. PMID: 26945816.
Filosto M, Aureli M, Castellotti B, Rinaldi F, Schiumarini D, Valsecchi M, Lualdi S, Mazzotti R, Pensato V, Rota S, Gellera C, Filocamo M, Padovani A. ASAH1 variant causing a mild SMA phenotype with no myoclonic epilepsy: a clinical, biochemical and molecular study. Eur J Hum Genet. 2016 Nov;24(11):1578-1583. PMID: 27026573.
