Farber Lipogranulomatosis (FRBRL)

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OMIM 57 228000 Disease Ontology 12 DOID:0050464 MeSH 44 D055577 NCIt 50 C84710 SNOMED-CT 68 79935000 Orphanet 59 ORPHA333 UMLS via Orphanet 74 C2936785 C0268255

ICD10 via Orphanet 34 E75.2 MESH via Orphanet 45 C537075 D055577 MedGen 42 C0268255 KEGG 37 H00138 SNOMED-CT via HPO 69 258211005 563001 64859006 228156007 247578003 91138005 224958001 3723001 271771009 84445001 36440009 432788009 38086007 16294009 409623005 51615001 80515008 414564002 57676002 252157006 255314001 237836003 413921009 64634000 95735008 189099001 36279001 416439000 more UMLS 73 C0268255

NINDS : ⁵⁴ 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.

MalaCards based summary : Farber Lipogranulomatosis, also known as farber disease, is related to cerebral amyloid angiopathy, cst3-related and early invasive cervical adenocarcinoma, 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 Sphingolipid metabolism and Lysosome. Affiliated tissues include liver, skin and spleen, and related phenotypes are nystagmus and intellectual disability

Disease Ontology : ¹² 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.

Genetics Home Reference : ²⁵ Farber lipogranulomatosis is a rare inherited condition involving the breakdown and use of fats in the body (lipid metabolism). In affected individuals, lipids accumulate abnormally in cells and tissues throughout the body, particularly around the joints.

NIH Rare Diseases : ⁵³ Farber's disease is an inherited condition involving the breakdown and use of fats in the body (lipid metabolism). People with this condition have an abnormal accumulation of lipids (fat) throughout the cells and tissues of the body, particularly around the joints. Farber's disease is characterized by three classic symptoms: 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. Researchers have described seven types of Farber's disease based on their characteristic features. This condition is caused by mutations in the ASAH1 gene and is inherited in an autosomal recessive manner.      

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)

UniProtKB/Swiss-Prot : ⁷⁵ Farber lipogranulomatosis: 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.

Wikipedia : ⁷⁶ Jean Baptiste Point du Sable (before 1750 ? 1818) is honored as the first permanent non-Native-American... more...

Clinical features from OMIM:

228000

Search NIH Clinical Center for Farber Lipogranulomatosis

Search GEO for disease gene expression data for Farber Lipogranulomatosis.