{"orpha":333,"name":"Farber disease","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Acid ceramidase deficiency","Farber lipogranulomatosis"],"definition":"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.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-333/","orphanet_url":"https://www.orpha.net/en/disease/detail/333","names":{"fr":{"name":"Maladie de Farber","synonyms":["Déficit en céramidase acide","Lipogranulomatose de Farber"],"definition":"Maladie du tissu sous-cutané caractérisée par un spectre de signes cliniques allant de la triade classique associant articulations douloureuses et progressivement déformées, nodules sous-cutanés et enrouement progressif (dû à une atteinte laryngée) survenant dans la petite enfance, à des phénotypes variables avec une atteinte respiratoire et neurologique."},"de":{"name":"Farber-Krankheit","synonyms":["Ceramidase-Mangel","Farber-Lipogranulomatose"],"definition":"Eine subkutane Gewebeerkrankung, die durch ein variables klinisches Bild gekennzeichnet ist, das von der klassischen Trias aus schmerzhaften und zunehmend deformierten Gelenken, subkutanen Knötchen und fortschreitender Heiserkeit (sekundär durch Kehlkopfbeteiligung) mit neonatalem Beginn bis hin zu variablen Phänotypen mit respiratorischer und neurologischer Beteiligung reicht."},"es":{"name":"Enfermedad de Farber","synonyms":["Deficiencia de ceramidasa","Lipogranulomatosis de Farber"],"definition":"Es una enfermedad del tejido subcutáneo caracterizada por un espectro de signos clínicos que varían desde la tríada clásica de dolor y deformación progresiva de las articulaciones, nódulos subcutáneos y ronquera progresiva (debida a la afectación laríngea) que se presenta en la infancia, hasta fenotipos variables de afectación respiratoria y neurológica."},"it":{"name":"Malattia di Farber","synonyms":["Deficit di ceramidasi","Lipogranulomatosi di Farber"],"definition":"È una malattia del tessuto sottocutaneo, caratterizzata da un quadro clinico variabile, che va dalla classica triade deformazioni progressive e dolorose degli arti, noduli sottocutanei e raucedine progressiva (secondaria all'interessamento della laringe) ad esordio neonatale, fino a fenotipi variabili con interessamento respiratorio e neurologico."},"nl":{"name":"Ziekte van Farber","synonyms":["Ceramidasedeficiëntie","Lipogranulomatose van Farber","N-acylsfingosine-amidohydrolasedeficiëntie"],"definition":"Een ziekte van het subcutane weefsel, gekarakteriseerd door een spectrum van klinische tekenen gaande van de klassieke triade van pijnlijke en progressief misvormde gewrichten, onderhuidse noduli, en progressieve heesheid (vanwege betrokkenheid van de larynx) die zich voordoet in de zuigelingentijd, tot variërende fenotypes met respiratoire en neurologische betrokkenheid."},"pt":{"name":"Doença de Farber","synonyms":["Deficiência de ceramidase","Lipogranulomatose de Farber"]},"pl":{"name":"Lipogranulomatoza Farbera","synonyms":["Choroba Farbera","Niedobór ceramidazy"]},"cs":{"name":"Farberova nemoc","synonyms":["Deficit kyselé ceramidázy","Farberova lipogranulomatóza"]},"uk":{"name":"Хвороба Фарбера","synonyms":["Дефіцит кислої церамідази","Ліпогранулематоз Фарбера"],"definition":"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."},"zh":{"name":"法伯病","synonyms":["酸性神经酰胺酶缺乏症"]},"tr":{"name":"Farber hastalığı","synonyms":["Farber lipogranülomatozu","Asit seramidaz eksikliği"]}},"xrefs":[{"source":"OMIM","code":"228000","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E75.2","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"5C56.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"122136943"},{"source":"MONDO","code":"0009218","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D055577","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0268255","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6426","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10083960","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":183484,"name":"Genetic subcutaneous tissue disorder","classifications":[156]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]},{"orpha":716405,"name":"Rare disorder with progressive generalized retinal disorder as a major feature","classifications":[156,189]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]},{"orpha":79225,"name":"Sphingolipidosis","classifications":[150,156,233]},{"orpha":371442,"name":"Sphingolipidosis with epilepsy","classifications":[156,181]},{"orpha":79382,"name":"Subcutaneous tissue disease","classifications":[187]}],"children":[],"genes":[{"symbol":"ASAH1","name":"N-acylsphingosine amidohydrolase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24355074[PMID]","hgnc":"735","ensembl":"ENSG00000104763","omim":"613468","loci":["8p22"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":96.0,"area":"Worldwide","status":"Validated","source":"29048419[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_29048419[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-02-03","source":"30029679[PMID]_29048419[PMID]_29595935[PMID]","terms":[{"hpo":"HP:0012379","label":"Abnormal enzyme/coenzyme activity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001369","label":"Arthritis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001371","label":"Flexion contracture","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001609","label":"Hoarse voice","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001386","label":"Joint swelling","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007470","label":"Periarticular subcutaneous nodules","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011842","label":"Abnormality of skeletal morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000707","label":"Abnormality of the nervous system","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002086","label":"Abnormality of the respiratory system","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002829","label":"Arthralgia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010729","label":"Cherry red spot of the macula","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003444","label":"EMG: chronic denervation signs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008947","label":"Floppy infant","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003640","label":"Foam cells in visceral organs and CNS","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001615","label":"Hoarse cry","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000502","label":"Abnormal conjunctiva morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005483","label":"Abnormal epiglottis morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001760","label":"Abnormal foot morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025423","label":"Abnormal larynx morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000766","label":"Abnormal sternum morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009811","label":"Abnormality of the elbow","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001155","label":"Abnormality of the hand","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002815","label":"Abnormality of the knee","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003019","label":"Abnormality of the wrist","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100750","label":"Atelectasis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012444","label":"Brain atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007957","label":"Corneal opacity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002376","label":"Developmental regression","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002207","label":"Diffuse reticular or finely nodular infiltrations","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001618","label":"Dysphonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001433","label":"Hepatosplenomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006511","label":"Laryngeal stridor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000608","label":"Macular degeneration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002300","label":"Mutism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001336","label":"Myoclonus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025392","label":"Nodular pattern on pulmonary HRCT","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000939","label":"Osteoporosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001954","label":"Recurrent fever","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002788","label":"Recurrent upper respiratory tract infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002098","label":"Respiratory distress","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002093","label":"Respiratory insufficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003202","label":"Skeletal muscle atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025405","label":"Visual fixation instability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001612","label":"Weak cry","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001541","label":"Ascites","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002028","label":"Chronic diarrhea","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002910","label":"Elevated circulating hepatic transaminase concentration","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001399","label":"Hepatic failure","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001395","label":"Hepatic fibrosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001789","label":"Hydrops fetalis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012469","label":"Infantile spasms","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0006575","label":"Intrahepatic cholestasis with episodic jaundice","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001686","label":"Loss of voice","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002716","label":"Lymphadenopathy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0007759","label":"Opacification of the corneal stroma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002385","label":"Paraparesis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0009381","label":"Short finger","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001831","label":"Short toe","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001873","label":"Thrombocytopenia","frequency":"Very rare (<4-1%)","criteria":null}]}}