{"orpha":69735,"name":"Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Hypotrichosis-lymphedema-telangiectasia-membranoproliferative glomerulonephritis syndrome"],"definition":"An extremely rare syndromic lymphedema disorder characterized by early-onset hypotrichosis, childhood-onset lymphedema, and variable telangiectasia, particularly of the palms.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-69735/","orphanet_url":"https://www.orpha.net/en/disease/detail/69735","names":{"fr":{"name":"Syndrome d'hypotrichose-lymphoedème-télangiectasie-atteinte rénale","synonyms":["Syndrome d'hypotrichose-lymphoedème-télangiectasie-glomérulonéphrite membranoproliférative"],"definition":"Lymphoedème syndromique extrêmement rare caractérisé par une hypotrichose précoce, un lymphoedème infantile et une télangiectasie variable, en particulier au niveau des paumes des mains."},"de":{"name":"Hypotrichose-Lymphödem-Teleangiektasie-Nierenfunktionsstörung-Syndrom","synonyms":["Hypotrichose-Lymphödem-Teleangiektasie-membranoproliferative Glomerulonephritis-Syndrom"],"definition":"Eine äußerst seltene syndromale Lymphödemerkrankung, die durch früh einsetzende Hypotrichose, Lymphödeme im Kindesalter und variable Teleangiektasien, insbesondere an den Handflächen, gekennzeichnet ist."},"es":{"name":"Síndrome de hipotricosis-linfedema-telangiectasia-defecto renal","definition":"Es un trastorno de linfedema sindrómico extremadamente infrecuente caracterizado por hipotricosis de inicio temprano, linfedema de inicio en la infancia y telangiectasia variable, particularmente en las palmas de las manos."},"it":{"name":"Ipotricosi - linfedema - telangectasia"},"nl":{"name":"Hypotrichose - lymfoedeem - teleangiëctasie - renaal defect-syndroom","definition":"Een uiterst zeldzaam syndromaal lymfoedeem, gekenmerkt door hypotrichose met vroege aanvang, lymfoedeem met aanvang in de kindertijd, en variabele teleangiëctasie, vooral van handpalmen."},"pt":{"name":"Síndrome de hipotricose-linfedema-telangiectasia-defeito renal","synonyms":["Síndrome de hipotricose-linfedema-telangiectasia-glomerulonefrite membranoproliferativa"]},"pl":{"name":"Hipotrichoza - obrzęk limfatyczny - telangiektazja","synonyms":["Hypotrichosis-lymphedema-telangiectasia-membranoproliferative glomerulonephritis syndrome"],"definition":"Niezwykle rzadki zespół z obrzękiem limfatycznym, który charakteryzuje się hipotrichozą o wczesnym początku, obrzękiem limfatycznym występującym w dzieciństwie i teleangiektazjami, szczególnie w obrębie dłoni."},"cs":{"name":"Syndrom zahrnující hypotrichózu, lymfedém, teleangiektázii a vady ledvin","synonyms":["Syndrom zahrnující hypotrichózu, lymfedém, teleangiektázii a membranoproliferativní glomerulonefritidu"]},"uk":{"name":"Синдром гіпотрихозу-лімфедеми-телеангіектазії-ниркової недостатності","synonyms":["Синдром гіпотрихозу-лімфедеми-телеангіектазії-мембранопроліферативного гломерулонефриту"],"definition":"An extremely rare syndromic lymphedema disorder characterized by early-onset hypotrichosis, childhood-onset lymphedema, and variable telangiectasia, particularly of the palms."},"zh":{"name":"少毛症-淋巴水肿-毛细血管扩张-肾缺损综合征","synonyms":["少毛症-淋巴水肿-毛细血管扩张-膜增生性肾小球肾炎综合征"]},"tr":{"name":"Hipotrikoz-lenfödem-telenjiektazi-renal defekt sendromu","synonyms":["Hipotrikoz-lenfödem-telenjiektazi-membranoproliferatif glomerülonefrit sendromu"]}},"xrefs":[{"source":"OMIM","code":"137940","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"607823","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"BD93.0","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"UMLS","code":"C4317151","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2492","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":2087,"name":"Glomerulonephritis-sparse hair-telangiectasis syndrome","status":"inactive"}],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":567562,"name":"Disorder with multisystemic involvement and glomerulopathy","classifications":[156,188,233]},{"orpha":568044,"name":"Primary lymphedema with systemic or visceral involvement","classifications":[147,156,187,198]}],"children":[],"genes":[{"symbol":"SOX18","name":"SRY-box transcription factor 18","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24697860[PMID]","hgnc":"11194","ensembl":"ENSG00000203883","omim":"601618","loci":["20q13.33"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_12740761[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":"12740761[PMID]","terms":[{"hpo":"HP:0100763","label":"Abnormality of the lymphatic system","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002223","label":"Absent eyebrow","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000561","label":"Absent eyelashes","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001596","label":"Alopecia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100869","label":"Palmar telangiectasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100870","label":"Plantar telangiectasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003550","label":"Predominantly lower limb lymphedema","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002231","label":"Sparse body hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002209","label":"Sparse scalp hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000965","label":"Cutis marmorata","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000034","label":"Hydrocele testis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100540","label":"Palpebral edema","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001541","label":"Ascites","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004334","label":"Dermal atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001789","label":"Hydrops fetalis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002202","label":"Pleural effusion","frequency":"Occasional (29-5%)","criteria":null}]}}