{"orpha":31150,"name":"Tangier disease","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["ATP-binding cassette transporter A1 deficiency","Analphalipoproteinemia"],"definition":"A rare, genetic neurometabolic disease characterized biochemically by an almost complete absence of plasma high-density lipoproteins (HDL), and clinically by liver, spleen, lymph node and tonsil enlargement along with multifocal peripheral neuropathy, corneal, skin and nail and, occasionally, cardiovascular disease.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-31150/","orphanet_url":"https://www.orpha.net/en/disease/detail/31150","names":{"fr":{"name":"Maladie de Tangier","synonyms":["Analphalipoprotéinémie","Déficit du transporteur à ATP-binding cassette A1"],"definition":"Maladie neurométabolique génétique rare caractérisée, sur le plan biochimique, par une absence presque totale de lipoprotéines de haute densité (HDL) dans le plasma et, sur le plan clinique, par une hypertrophie du foie, de la rate, des ganglions lymphatiques et des amygdales, ainsi que par une neuropathie périphérique multifocale, une maladie de la cornée, de la peau et des ongles et, parfois, une maladie cardiovasculaire."},"de":{"name":"Tangier-Krankheit","synonyms":["ATP-binding cassette-Transporter A1-Defekt","Analphalipoproteinämie"],"definition":"Eine seltene Störung des Lipoprotein-Stoffwechsels und biochemisch gekennzeichnet durch ein fast vollständiges Fehlen der High-density-Lipoproteine (HDL) im Plasma. Klinische Merkmale sind die Vergrößerung von Leber, Milz, Lymphknoten und Tonsillen sowie multifokale periphere Neuropathie, Hornhaut-, Haut- und Nagelerkrankungen und gelegentlich auch kardiovaskuläre Veränderungen."},"es":{"name":"Enfermedad de Tangier","synonyms":["Analfalipoproteinemia","Casete transportador de unión a adenosina trifosfato A1 defectuoso","Deficiencia del casete transportador de unión a ATP A1"],"definition":"Es una enfermedad neurometabólica hereditaria poco frecuente caracterizada bioquímicamente por una ausencia casi completa de lipoproteínas de alta densidad (HDL) en plasma y, clínicamente, por agrandamiento hepático, esplénico, de los ganglios linfáticos y de las amígdalas acompañado de neuropatía periférica multifocal, y de enfermedades corneales, cutáneas y ungueales y, ocasionalmente, cardiovasculares."},"it":{"name":"Malattia di Tangier","synonyms":["Analfalipoproteinemia","Deficit del trasportatore a cassetta legante ATP","Deficit del trasportatore a cassetta legante l'adenosina trifosfato A1"],"definition":"La malattia di Tangier (TD) è una malattia neurometabolica genetica rara, caratterizzata, dal punto di vista biochimico, dalla quasi completa assenza delle lipoproteine ad alta densità (HDL) nel plasma e, a livello clinico, dall'ingrossamento del fegato, della milza, dei linfonodi e delle tonsille, associato a neuropatia periferica multifocale, malattie della cornea, della cute e delle unghie e, occasionalmente, cardiovascolari."},"nl":{"name":"Ziekte van Tangier","synonyms":["Analfalipoproteïnemie","ATP-binding cassette transporter A1-deficiëntie"],"definition":"Een zeldzame, genetische neurometabole aandoening, biochemisch gekarakteriseerd door nagenoeg volledige afwezigheid van lipoproteïnen met hoge densiteit (HDL) in plasma, en klinisch door vergroting van lever, milt, lymfeklieren en keelamandelen, samen met multifocale perifere neuropathie, aandoeningen van cornea en van huid en nagels, en soms cardiovasculaire ziekte."},"pt":{"name":"Doença de Tangier"},"pl":{"name":"Choroba Tangier","synonyms":["Analfalipoproteinemia","Defekt kasety wiążącej trójfosforan adenozyny transportera A1","Niedobór kasety wiążącej ATP transportera A1"]},"cs":{"name":"Tangierská nemoc","synonyms":["Deficit ATP-vázajícího kazetového transportéru A1","Analfalipoproteinémie","Defektní adenozin trifosfát-vázající kazetový transportér A1"]},"uk":{"name":"Хвороба Танжера","synonyms":["Анальфаліпопротеїнемія","Дефіцит АТФ-звязуючого касетного транспортера А1"],"definition":"A rare, genetic neurometabolic disease characterized biochemically by an almost complete absence of plasma high-density lipoproteins (HDL), and clinically by liver, spleen, lymph node and tonsil enlargement along with multifocal peripheral neuropathy, corneal, skin and nail and, occasionally, cardiovascular disease."},"zh":{"name":"丹吉尔病","synonyms":["三磷酸腺苷结合盒转运体A1缺乏症"]},"tr":{"name":"Tangier hastalığı","synonyms":["Analfalipoproteinemi","ATP bağlayıcı kaset taşıyıcı A1 eksikliği","Defektif adenozin trifosfat bağlayıcı kaset taşıyıcı A1"]}},"xrefs":[{"source":"OMIM","code":"205400","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E78.6","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C81.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1796662502"},{"source":"MONDO","code":"0008783","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D013631","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0039292","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7731","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10051875","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":31153,"name":"Hypoalphalipoproteinemia","classifications":[150,156,193]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]},{"orpha":207018,"name":"Rare hereditary metabolic disease with peripheral neuropathy","classifications":[156,181]},{"orpha":207021,"name":"Rare hereditary systemic disease with peripheral neuropathy","classifications":[156,181]}],"children":[],"genes":[{"symbol":"ABCA1","name":"ATP binding cassette subfamily A member 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"10535983[PMID]","hgnc":"29","ensembl":"ENSG00000165029","omim":"600046","loci":["9q31.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Adult","Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":185.0,"area":"Worldwide","status":"Validated","source":"27565770[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_22913675[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-02-06","source":"18955690[PMID]_10431236[PMID]_10525055[PMID]_195100[PMID]_4165386[PMID]_10431238[PMID]","terms":[{"hpo":"HP:0002155","label":"Hypertriglyceridemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003146","label":"Hypocholesterolemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004943","label":"Accelerated atherosclerosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002730","label":"Chronic noninfectious lymphadenopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005145","label":"Coronary artery stenosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002460","label":"Distal muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000958","label":"Dry skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000656","label":"Ectropion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001433","label":"Hepatosplenomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008404","label":"Nail dystrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030814","label":"Orange discoloured tonsils","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003477","label":"Peripheral axonal neuropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007133","label":"Progressive peripheral neuropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100546","label":"Carotid artery stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007957","label":"Corneal opacity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001349","label":"Facial diplegia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010829","label":"Impaired temperature sensition","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001712","label":"Left ventricular hypertrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003396","label":"Syringomyelia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001873","label":"Thrombocytopenia","frequency":"Occasional (29-5%)","criteria":null}]}}