Farber disease - Wikipedia
Farber disease (also known as Farber's lipogranulomatosis, acid ceramidase deficiency, "Lipogranulomatosis", [2] and ASAH1-related disorders) is an extremely rare, progressive, autosomal recessive lysosomal storage disease caused by a …
ASAH1-Related Disorders - Symptoms, Causes, Treatment | NORD
2021年11月15日 · The most common form of ASAH1-related disorder is called Farber disease, which can present in several different ways. The most common presentation is characterized by the three main symptoms: small bumps beneath the skin (subcutaneous nodules), joint disease, and hoarseness of voice.
Farber Disease - Child Neurology Foundation
Farber disease (FD) is a rare genetic disorder. It is one of the lysosomal storage disorders. Lysosomes are structures found inside almost every cell of the body. Lysosomes contain enzymes that break down molecules. FD is caused by …
Farber lipogranulomatosis - MedlinePlus
Farber lipogranulomatosis is a rare inherited condition involving the breakdown and use of fats in the body (a process known as lipid metabolism). In affected individuals, lipids accumulate abnormally in cells and tissues throughout the body, particularly around the joints.
Orphanet: Farber disease
Farber disease is caused by mutations in the N-acylsphingosine amidohydrolase (ASAH1) gene (8p22) which encodes acid ceramidase, a lysosomal enzyme that hydrolyzes ceramide into sphingosine and free fatty acid. A deficient activity of this enzyme leads to an accumulation of ceramide in most tissues.
Farber disease: understanding a fatal childhood disorder and …
Farber disease (Lipogranulomatosis) is a rare, invariably fatal, inherited metabolic disorder first described by Sidney Farber in 1957 (Farber et al, 1957). Farber disease is inherited in an autosomal recessive fashion and is caused by mutations in …
Farber Disease: Symptoms, Causes, and Treatment Options
What is Farber Disease? Farber disease is an autosomal recessive disorder caused by mutations in the ASAH1 gene, which encodes the enzyme acid ceramidase. This enzyme is responsible for breaking down ceramide into sphingosine and fatty acids.
Farber Disease - an overview | ScienceDirect Topics
Farber disease is a rare, autosomal recessive inherited disease. Seven subtypes with a wide variability are described. The main features consist of painful nodules, which are located near the joints, mostly at the interphalangeal joints, wrist, and elbow, and a characteristic hoarseness.
ASAH1-Related Disorders - GeneReviews® - NCBI Bookshelf
2018年3月29日 · ASAH1-related disorders comprise a spectrum that ranges from Farber disease (FD) to spinal muscular atrophy (SMA) with or without epilepsy. ASAH1-related disorders vary in the age of onset of manifestations, the systems affected, and severity and …
Farber disease: A clinical diagnosis - PMC - National Center for ...
Children who have the classic form of Farber's disease develop symptoms within the first few weeks of life. It is characterized by a clinical triad including painful joint deformity, subcutaneous nodules, and hoarseness.
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