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Farber Disease

Ceramidase Deficiency


Presentation

  • All cases reported in the literature to date have presented with the above features, except for the neonatal-visceral subtype.[ncbi.nlm.nih.gov]
  • The classic phenotype presents at around 3-6 months of age with painful, swollen and stiff joints of the hands and feet, prominent subcutaneous nodules over pressure points, and progressive hoarseness leading to aphonia due to vocal cord infiltration.[orpha.net]
Soft Tissue Swelling
  • Neuroimaging findings and the biopsy of the soft tissue swellings helped to reach the diagnosis.[ncbi.nlm.nih.gov]
Splenomegaly
  • Ontology (HPO) Abnormality of blood and blood-forming tissues Lipogranulomatosis Abnormality of head or neck Cherry red spot of the macula Abnormality of metabolism/homeostasis Joint swelling Lipogranulomatosis Abnormality of the abdomen Hepatomegaly Splenomegaly[familydiagnosis.com]
  • Some of the complications of Farber’s Syndrome could cause fatalities and these might include: Acute breathing difficulties, resulting in respiratory failure Swollen liver (congenital hepatomegaly) and swollen spleen (congenital splenomegaly) at birth[dovemed.com]
  • Cherry red spot of the macula 0010729 Corneal opacity 0007957 Global developmental delay 0001263 Intellectual disability Mental deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ] 0001249 Pulmonary fibrosis 0002206 Splenomegaly[rarediseases.info.nih.gov]
  • Bone marrow ***, lungs & brain 1)Thus, patients wih Gaucher's disease are ** more suspetible to infection ** -- Enzyme Replacement Therapy is a form a treatment -- Three Major Types (Type I, II, & III) -- Clinical Symptoms: 1)* PAINLESS HEPATOMEGALY & SPLENOMEGALY[quizlet.com]
  • In patients homozygous for the D409H mutation, the phenotypic manifestations including oculomotor apraxia, splenomegaly, and cardiac valve and big vessel calcifications correlated with this genotype [ 39 ].[err.ersjournals.com]
Failure to Thrive
  • Severe cognitive disability, failure to gain motor skills, failure to thrive, and joint contractures developed. Using whole-exome sequencing, we identified the compound heterozygote missense mutations of ASAH1 (p.R333C and p.G235R).[ncbi.nlm.nih.gov]
  • Recognizable at birth or shortly after; manifests with failure to thrive, hoarse cry, feeding difficulty, irritability, motor and mental retardation and erythematous periarticular swellings (nodular plaques in the skin), swelling of joints of extremities[whonamedit.com]
  • The most severe neonatal form presents at birth with hydrops fetalis, lethargy, and failure to thrive, as well as hepatosplenomegaly, rapid neurological deterioration, and granulomatous infiltrations to various other organs (i.e. liver, spleen, lungs)[orpha.net]
Corneal Opacity
  • opacity 0007957 Global developmental delay 0001263 Intellectual disability Mental deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ] 0001249 Pulmonary fibrosis 0002206 Splenomegaly Increased spleen size 0001744[rarediseases.info.nih.gov]
Joint Deformity
  • Farber disease is a rare lysosomal storage disease characterized by a clinical triad including painful joint deformity, subcutaneous nodules and hoarseness, due to progressive granulomatous inflammation.[ncbi.nlm.nih.gov]
  • It is characterized by a clinical triad including painful joint deformity, subcutaneous nodules, and hoarseness. Subcutaneous nodules appear especially near the joints and on pressure points.[pediatricneurosciences.com]
  • The 3 key features that are basically used to confirm the disease are: Sub-surface skin nodules (subcutaneous nodules) Joint deformities Hoarseness of voice Nevertheless, differential diagnostic tests may be required to rule out other lysosomal storage[dovemed.com]
Short Arm
  • Farber lipogranulomatosis is caused by a mutation in the ASAH1 gene, situated on the short arm of chromosome 8. This gene codes for acid ceramidase, a lysosomal heterodimeric enzyme that hydrolyzes ceramide into sphingosine and fatty acid.[centogene.com]
  • PATHOGENESIS Faber lipogranulomatosis is caused by a mutation in the ASAH1 gene, situated on the short arm of chromosome 8.[flipper.diff.org]
Subcutaneous Nodule
  • The disease presents classically during the infantile period with a characteristic triad of clinical manifestations: (a) painful joints, (b) subcutaneous nodules, and (c) progressive hoarseness due to laryngeal involvement.[ncbi.nlm.nih.gov]
  • In some patients, the disease manifests in childhood as a spinal muscular atrophy associated with progressive myoclonic epilepsy (SMA-PME) in the absence of subcutaneous nodules.[orpha.net]
Psychomotor Retardation
  • retardation, and varying degrees of ocular, pulmonary or hepatic involvement.[ncbi.nlm.nih.gov]
Loss of Speech
  • Type 5 is characterized by progressive decline in brain and spinal cord (central nervous system) function, which causes paralysis of the arms and legs (quadriplegia), seizures, loss of speech, involuntary muscle jerks (myoclonus), and developmental delay[ghr.nlm.nih.gov]
  • A major feature is progressive neurological involvement, manifesting as quadriplegia, loss of speech, myoclonus, seizures and intellectual disability.[invitae.com]
Irritability
  • Recognizable at birth or shortly after; manifests with failure to thrive, hoarse cry, feeding difficulty, irritability, motor and mental retardation and erythematous periarticular swellings (nodular plaques in the skin), swelling of joints of extremities[whonamedit.com]
  • Irritable 0000737 Lipogranulomatosis 0040139 Motor delay 0001270 Progressive Worsens with time 0003676 Variable expressivity 0003828 Showing of 29 Last updated: 5/1/2019 Making a diagnosis for a genetic or rare disease can often be challenging.[rarediseases.info.nih.gov]
  • Heartburn Medication Magnesium C- B12 Mangel Vitamin Diagnostic activity in patients with suspected irritable bowel syndrome (IBS) A Diet for IBS and GERD? “I have acid reflux and IBS as well.[telefot.eu]
Gait Ataxia
  • At 40 months, gait ataxia was evident, and brain MRI showed increased size of pericerebellar sulci and 4th ventricle. EMG showed denervation in the tongue and upper limb muscles, consistent with motor neuron disease.[ncbi.nlm.nih.gov]
Clonus
  • Farber lipogranu- lomatosis: A report of a case with nystagmus, rnyo- clonus and convulsions. Brain Dev 9: 227, 1987. 48 5. 6. 7. 8. 9. 10. 11. Farber's Lipogranulornatosis (Koga et a/.) Chanoki M, lshii M, Fukai K, et a/.[dokumen.tips]

Workup

Leukocytes Increased
  • Ceramidase activity in peripheral blood leukocytes increased from 6% before transplant to 44% (donor heterozygote level) by 6 weeks after BMT.[ncbi.nlm.nih.gov]

Treatment

  • Management and treatment There is currently no effective specific therapy for Farber disease, and symptomatic treatment is based on analgesics, corticotherapy, and plastic surgery.[orpha.net]
  • This overall transduction and uptake scenario for Farber disease allows future treatment of this severe disorder to be envisioned using gene transfer approaches.[ncbi.nlm.nih.gov]
  • […] disorders across the lifespan (pediatric, adult, and geriatric populations) Includes interventions and methods of treatment for the outcomes patients may experience[books.google.com]

Prognosis

  • Prognosis The prognosis varies, with some patients dying within the first few days of life (severe neonatal form) and others living until adolescence or early adulthood (milder forms).[orpha.net]
  • Farber disease, a lysosomal storage disorder, has a dismal prognosis leading to death with progressive granulomatous inflammation, even in patients without central nervous system involvement (type 2/3).[ncbi.nlm.nih.gov]
  • Prognosis Most children with Farber disease die by age 2, usually from lung disease. In one of the most severe forms of the disease, an enlarged liver and spleen ( hepatosplenomegaly ) can be diagnosed soon after birth.[ipfs.io]

Etiology

  • Etiology 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.[orpha.net]
  • Their etiology is not precisely century with the first clinical recognition of known, so we have included chapters that dis symptoms and patterns for diagnosis of car cuss many aspects of congenital cardiac mal diovascular diseases.[books.google.com]
  • (Etiology) Many enzymes exist within the lysosome (a cell structure component), which are required to break down the body’s complex compounds.[dovemed.com]

Epidemiology

  • Summary Epidemiology Approximately 200 cases of Farber disease have been reported worldwide in the literature to date. Clinical description A high clinical variability is seen between patients.[orpha.net]
  • It is inherited with a autosomal recessive pattern. epidemiology of FD HISTORICAL NOTES This disorder was first described in 1957 by Dr.[flipper.diff.org]
  • […] for ACER3 No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ACER3 Gene - elite association - COSMIC cancer census association via MalaCards Relevant External Links for ACER3 Genetic Association Database (GAD) ACER3 Human Genome Epidemiology[genecards.org]
Sex distribution
Age distribution

Prevention

  • HSCT improves the peripheral manifestations of Farber disease, but may not prevent the progressive neurological deterioration.[ncbi.nlm.nih.gov]
  • Currently, there are no specific methods or guidelines to prevent Farber’s Disease genetic condition Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help[dovemed.com]
  • This DNA vaccine has the potential to be a safe and effective therapy to prevent Alzheimer disease.He described Machado-Joseph disease (MJD), an autosomal dominant ataxia, with William Nyhan, M.D. Ph.D, in 1976, for the first time.[books.google.de]

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