Farber Lipogranulomatosis (FRBRL)

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Disease Ontology 12 DOID:0050464 OMIM 56 228000 KEGG 36 H00138 MeSH 43 D055577 NCIt 49 C84710 SNOMED-CT 67 79935000 MESH via Orphanet 44 C537075 D055577

ICD10 via Orphanet 33 E75.2 UMLS via Orphanet 72 C0268255 C2936785 Orphanet 58 ORPHA333 MedGen 41 C0268255 SNOMED-CT via HPO 68 127324008 16294009 165397008 166603001 166643006 17450006 1845001 189099001 195708003 203598005 2120003 221360009 224958001 228156007 230145002 236071009 237836003 246957002 247578003 248200007 249765007 252157006 255314001 258211005 267036007 271737000 271771009 271825005 276508000 278849000 302215000 30746006 32003007 36279001 36440009 36760000 3723001 385522000 389026000 397790002 398206004 398302004 406444002 409623005 41432000 415116008 416439000 418143002 422338006 432788009 441913003 44564008 46621007 47004009 52522001 53787002 55033002 563001 57048009 57676002 59927004 609225004 62484002 64859006 74035001 75183008 77957000 78164000 7890003 80515008 88052002 88565003 91138005 more UMLS 71 C0268255

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. 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. Affected individuals may also have difficulty breathing, an enlarged liver and spleen (hepatosplenomegaly), and developmental delay. Researchers have described seven types of Farber lipogranulomatosis based on their characteristic features. Type 1 is the most common, or classical, form of this condition and is associated with the classic signs of voice, skin, and joint problems that begin a few months after birth. Developmental delay and lung disease also commonly occur. Infants born with type 1 Farber lipogranulomatosis usually survive only into early childhood. Types 2 and 3 generally have less severe signs and symptoms than the other types. Affected individuals have the three classic signs and usually do not have developmental delay. Children with these types of Farber lipogranulomatosis typically live into mid- to late childhood. Types 4 and 5 are associated with severe neurological problems. Type 4 usually causes life-threatening health problems beginning in infancy due to massive lipid deposits in the liver, spleen, lungs, and immune system tissues. Children with this type typically do not survive past their first year of life. 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. Children with type 5 Farber lipogranulomatosis survive into early childhood. Types 6 and 7 are very rare, and affected individuals have other associated disorders in addition to Farber lipogranulomatosis.

MalaCards based summary : Farber Lipogranulomatosis, also known as farber disease, is related to lipogranulomatosis and mucolipidosis, 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 arthritis and flexion contracture

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.

NIH Rare Diseases : ⁵² 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 . Treatment is focused on managing the symptoms. Stem cell transplant is an option for some patients.

OMIM : ⁵⁶ 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)

NINDS : ⁵³ 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.

KEGG : ³⁶ Farber lipogranulomatosis is an autosomal recessive disorder caused by acid ceramidase deficiency.

UniProtKB/Swiss-Prot : ⁷³ 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 : ⁷⁴ Farber disease (also known as Farber's lipogranulomatosis, ceramidase deficiency, "Fibrocytic... more...

Clinical features from OMIM:

228000

Search NIH Clinical Center for Farber Lipogranulomatosis

Search GEO for disease gene expression data for Farber Lipogranulomatosis.