FRBRL
MCID: FRB001
MIFTS: 59
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Farber Lipogranulomatosis (FRBRL)
Categories:
Eye diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Skin diseases
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MalaCards integrated aliases for Farber Lipogranulomatosis:
Characteristics:Inheritance:
Farber Lipogranulomatosis:
Autosomal recessive 57
Farber Disease:
Autosomal recessive 58
Prevelance:
Farber Disease:
<1/1000000 (Worldwide, Europe) 58
Age Of Onset:
Farber Disease:
Antenatal,Childhood,Infancy,Neonatal 58
OMIM®:57 (Updated 08-Dec-2022)
Miscellaneous:
variable severity progressive disorder early death (in some patients) onset in infancy or first years of life HPO:30Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Anatomical: Neuronal diseases Eye diseases Skin diseases
ICD10:
32
Orphanet: 58
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MedlinePlus Genetics: 42 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. Researchers had previously categorized Farber lipogranulomatosis into subtypes based on characteristic features, but the condition is now thought to be a spectrum of overlapping signs of symptoms.Three classic signs occur in Farber lipogranulomatosis: a hoarse voice or a weak cry, small lumps of fat under the skin and in other tissues (lipogranulomas), and swollen and painful joints. Signs and symptoms typically first develop in infancy.In addition to the classic signs, Farber lipogranulomatosis often affects multiple body systems. Affected individuals can have developmental delay, behavioral problems, or seizures. In severe cases, people experience progressive decline in brain and spinal cord (central nervous system) function, a buildup of fluid in the brain (hydrocephalus), loss (atrophy) of brain tissue, paralysis of the arms and legs (quadriplegia), loss of speech, or involuntary muscle jerks (myoclonus). People with Farber lipogranulomatosis often have enlarged liver, spleen, and immune system tissues due to massive lipid deposits. Lipid deposits may also occur in the eyes and lungs, leading to vision problems and breathing difficulty. Affected individuals may develop thinning of the bones (osteoporosis) that worsens over time.Because of the severity of the signs and symptoms of the condition, individuals with Farber lipogranulomatosis generally do not survive past childhood. MalaCards based summary: Farber Lipogranulomatosis, also known as farber disease, is related to lipogranulomatosis and spinal muscular atrophy with progressive myoclonic epilepsy, and has symptoms including painful swollen joints An important gene associated with Farber Lipogranulomatosis is ASAH1 (N-Acylsphingosine Amidohydrolase 1), and among its related pathways/superpathways are Metabolism and Sphingolipid metabolism. Affiliated tissues include skin, spleen and liver, and related phenotypes are arthritis and flexion contracture NINDS: 52 Farber’s disease, also known as Farber's lipogranulomatosis, describes a group of inherited metabolic disorders called lipid storage diseases, in which excess amounts of lipids (oils, fatty acids, and related compounds) build up to harmful levels in the joints, tissues, and central nervous system. The liver, heart, and kidneys may also be affected. Disease onset typically begins in early infancy but may occur later in life. Symptoms of the classic form may have moderately impaired mental ability and difficulty with swallowing. Other symptoms may include chronic shortening of muscles or tendons around joints. arthritis, swollen lymph nodes and joints, hoarseness, nodules under the skin (and sometimes in the lungs and other parts of the body), and vomiting. Some people may need a breathing tube. In severe cases, the liver and spleen are enlarged. Farber's disease is caused by a deficiency of the enzyme ceramidase. The disease occurs when both parents carry and pass on the defective gene that regulates the protein sphingomyelin. Children born to these parents have a 25 percent chance of inheriting the disorder and a 50 percent chance of carrying the faulty gene. The disorder affects both males and females. GARD: 19 Farber disease is an inherited lipid storage disease in which an excess amount of fat builds up in the joints, tissues, and central nervous system. Symptoms of Farber disease include a hoarse voice or weak cry, small lumps of fat under the skin and in other tissues (lipogranulomas), and swollen and painful joints. Other symptoms may include difficulty breathing, an enlarged liver and spleen (hepatosplenomegaly), and developmental delay. The symptoms tend to get worse over time and lead to a shortened lifespan. There are multiple types of Farber disease classified by the severity and nervous system involvement. Farber disease occurs when the ASAH1 gene is not working correctly and is inherited in an autosomal recessive pattern. It is diagnosed based on clinical exam, the symptoms, and enzyme and genetic testing. OMIM®: 57 Farber lipogranulomatosis is an autosomal recessive lysosomal storage disorder characterized by early-onset subcutaneous nodules, painful and progressively deformed joints, and hoarseness by laryngeal involvement. Based on the age of onset, the severity of symptoms, and the difference in organs affected, 6 clinical subtypes due to deficiency of acid ceramidase have been distinguished. The most severe form is subtype 4, a rare neonatal form of the disease with death occurring before 1 year of age (summary by Alves et al., 2013). (228000) (Updated 08-Dec-2022) UniProtKB/Swiss-Prot: 73 An autosomal recessive lysosomal storage disorder characterized by subcutaneous lipid-loaded nodules, excruciating pain in the joints and extremities, and marked accumulation of ceramide in lysosomes. Disease severity is variable. The most severe disease subtype is a rare neonatal form with death occurring before 1 year of age. Orphanet: 58 A subcutaneous tissue disease characterized by a spectrum of clinical signs ranging from the classical triad of painful and progressively deformed joints, subcutaneous nodules, and progressive hoarseness (due to laryngeal involvement) that presents in infancy, to varying phenotypes with respiratory and neurologic involvement. Disease Ontology: 11 A lipid storage disease that is characterized by abnormalities in swallowing, cognition, joint function, and central nervous system due to a deficiency in the enzyme ceramidase that results in sphingolipids deposition. Wikipedia: 75 Farber disease (also known as Farber's lipogranulomatosis, acid ceramidase deficiency,... more... |
Human phenotypes related to Farber Lipogranulomatosis:58 30 (show top 50) (show all 83)
Symptoms via clinical synopsis from OMIM®:57 (Updated 08-Dec-2022)Clinical features from OMIM®:228000 (Updated 08-Dec-2022)UMLS symptoms related to Farber Lipogranulomatosis:painful swollen joints MGI Mouse Phenotypes related to Farber Lipogranulomatosis:45
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Interventional clinical trials:
Cochrane evidence based reviews: farber lipogranulomatosis |
Organs/tissues related to Farber Lipogranulomatosis:
MalaCards :
Skin,
Spleen,
Liver,
Spinal Cord,
Eye,
Brain,
Heart
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Articles related to Farber Lipogranulomatosis:(show top 50) (show all 226)
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ClinVar genetic disease variations for Farber Lipogranulomatosis:5 (show top 50) (show all 164)
UniProtKB/Swiss-Prot genetic disease variations for Farber Lipogranulomatosis:73 (show all 12)
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Search
GEO
for disease gene expression data for Farber Lipogranulomatosis.
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Pathways related to Farber Lipogranulomatosis according to GeneCards Suite gene sharing:(show all 11)
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Cellular components related to Farber Lipogranulomatosis according to GeneCards Suite gene sharing:
Biological processes related to Farber Lipogranulomatosis according to GeneCards Suite gene sharing:(show all 16)
Molecular functions related to Farber Lipogranulomatosis according to GeneCards Suite gene sharing:
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