Farber Lipogranulomatosis

Alternative Names

  • FRBRL
  • Farber Disease
  • Ceramidase Deficiency
  • Acid Ceramidase Deficiency
  • AC Deficiency
  • N-Laurylsphingosine Deacylase Deficiency
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WHO-ICD-10 version:2010

Endocrine, nutritional and metabolic diseases

Metabolic disorders

OMIM Number

228000

Mode of Inheritance

Autosomal recessive

Gene Map Locus

8p22

Description

Farber disease is one of the rarest forms of lysosomal diseases; it is caused by a deficiency in the lysosomal enzyme acid ceramidase, which hydrolyses ceramide to form sphingosine and fatty acids. The deficiency of acid ceramidase leads to the deposition of glycolipid ceramide in different tissues. Clinical features include periarticular subcutaneous nodules, contractures, hoarseness, neurological symptoms, and sometimes hepatosplenomegaly.

Mutations in the gene ASAH1, which encodes N-acylsphingosine amidohydrolase (acid ceramidase) 1 were found to cause Farber disease. Such mutations cause enzymatic deficiency and therefore a defect in the synthesis and degradation of ceramide leading to intracellular accumulation of ceramides in the joints, tissues, and central nervous system.

Epidemiology in the Arab World

View Map
Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
228000.1.1Saudi ArabiaMaleYesYes Global developmental delay; Hypotonia;...NM_177924.5:c.290T>GHomozygousAutosomal, RecessiveChedrawi et al. 2012
228000.1.2Saudi ArabiaFemaleYesYes Global developmental delay; Hypotonia;...NM_177924.5:c.290T>GHomozygousAutosomal, RecessiveChedrawi et al. 2012 Fraternal twin siste...
228000.2.1United Arab EmiratesFemaleYesNo Failure to thrive in infancy; Global de...NM_177924.5:c.1096A>C, NM_177924.5:c.505T>CCompound heterozygousAutosomal, RecessiveAl Jasmi, 2012 The patient had a de...

Other Reports

Egypt

El Sharkawy et al. (2000) described the features of four cases of Farber's disease who all presented by hoarseness of voice, polyarthritis and subcutaneous nodules. After clinical examination, the diagnosis was confirmed by fiberoptic flexible nasopharyngolaryngoscopy, which showed the presence of vocal folds thickening in all patients and affection of the cricoarytenoid joint in one patient and biopsy from the subcutaneous nodules, which showed infiltration of the deep dermis and subcutaneous tissues by fibroblasts and large foamy histiocytes.

Tunisia

Pellissier et al. (1986) studied two severely affected sibs born of consanguineous Tunisian parents. Involvement of both the central and peripheral nervous system was documented. Low conduction velocity was noticed in both children. Macular cherry red spots were observed in one.

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