{"orpha":528105,"name":"Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["HELIX syndrome"],"definition":"A rare genetic disease characterized by abnormalities in renal ion transport, ectodermal gland homeostasis, and epidermal integrity, resulting in generalized hypohidrosis, heat intolerance, salt-losing nephropathy, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, and xerostomia. Development of nephrolithiasis and severe enamel wear have also been described. Laboratory findings include hypermagnesemia, hypokalemia, hypercalcemia, and hypocalciuria.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-528105/","orphanet_url":"https://www.orpha.net/en/disease/detail/528105","names":{"fr":{"name":"Syndrome d'hypohidrose-déséquilibre électrolytique-dysfonctionnement des glandes lacrymales-ichtyose-xérostomie","synonyms":["Syndrome HELIX"],"definition":"Maladie génétique rare caractérisée par des anomalies du transport ionique rénal, de l'homéostasie des glandes ectodermiques et de l'intégrité épidermique, entraînant une hypohidrose généralisée, une intolérance à la chaleur, une néphropathie salivaire, un déséquilibre électrolytique, un dysfonctionnement des glandes lacrymales, une ichtyose et une xérostomie. Le développement d'une néphrolithiase et une usure sévère de l'émail ont également été décrits. L'examen biologique révèle une hypermagnésémie, une hypokaliémie, une hypercalcémie et une hypocalciurie."},"de":{"name":"Hypohydrosis-Elektrolytstörung-Tränendrüsenfunktionsstörung-Ichthyosis-Xerostomie-Syndrom","synonyms":["HELIX-Syndrom"],"definition":"Eine seltene genetische Erkrankung, die durch Anomalien des renalen Ionentransports, der ektodermalen Drüsenhomöostase und der epidermalen Integrität gekennzeichnet ist und zu generalisierter Hypohidrose, Hitzeintoleranz, Salzverlustnephropathie, Elektrolytunsymmetrie, Tränendrüsenfehlfunktion, Ichthyose und Xerostomie führt. Die Entwicklung einer Nephrolithiasis und eine starke Abnutzung des Zahnschmelzes sind ebenfalls beschrieben worden. Zu den Laborbefunden gehören Hypermagnesiämie, Hypokaliämie, Hyperkalzämie und Hypokalziurie."},"es":{"name":"Síndrome de hipohidrosis-desequilibrio electrolítico-disfunción de las glándulas lagrimales-ictiosis-xerostomía","synonyms":["Síndrome HELIX"],"definition":"Es una enfermedad de origen genético poco frecuente caracterizada por anomalías en el transporte iónico renal, en la homeostasis de las glándulas ectodérmicas y en la integridad epidérmica, resultando en hipohidrosis generalizada, intolerancia al calor, nefropatía por pérdida de sal, desequilibrio electrolítico, disfunción de las glándulas lagrimales, ictiosis y xerostomía. También se ha descrito desarrollo de nefrolitiasis y un grave desgaste del esmalte. Los hallazgos de laboratorio incluyen hipermagnesemia, hipopotasemia, hipercalcemia e hipocalciuria."},"it":{"name":"Sindrome ipoidrosi-squilibrio elettrolitico-disfunzione della ghiandola lacrimale-ittiosi-xerostomia","synonyms":["Sindrome HELIX"],"definition":"Si tratta di una malattia genetica rara, caratterizzata da anomalie del trasporto renale degli ioni e omeostasi delle ghiandole ectodermiche con epidermide integra, che si associano a ipoidrosi generalizzata, intolleranza al caldo, nefropatia con perdita di sali, squilibrio elettrolitico, disfunzione delle ghiandole lacrimali, ittiosi e xerostomia. Sono stati descritti pazienti con nefrolitiasi e marcata usura dello smalto. Gli esami di laboratorio evidenziano ipermagnesemia, ipokaliemia, ipercalcemia e ipocalciuria."},"nl":{"name":"Hypohidrose - verstoorde elektrolytenbalans - disfunctie van traanklieren - ichthyosis- xerostomie-syndroom","synonyms":["HELIX-syndroom"],"definition":"Een zeldzame, genetische aandoening, gekarakteriseerd door afwijkingen van transport van ionen in nier, homeostase van ectodermale klieren, en integriteit van epidermis, met als gevolg gegeneraliseerde hypohidrose, intolerantie voor hitte, nefropathie met zoutverlies, verstoord elektrolytenevenwicht, disfunctie van traanklier, ichthyosis, en xerostomie. Ontwikkeling van nefrolithiasis en ernstige slijtage van tandglazuur werden ook reeds beschreven. Laboratoriumbevindingen zijn onder meer hypermagnesiëmie, hypokaliëmie, hypercalciëmie, en hypocalciurie."},"pt":{"name":"Síndrome de hipohidrose-desequilibrio electrolítico-disfunção glândula lacrinal-ictiose-xerostomia"},"pl":{"name":"Zespół hipohydrozy-zaburzeń elektrolitowych-niewydolności gruczołu łzowego-rybiej łuski-suchości jamy ustnej","synonyms":["Zespół HELIX"]},"cs":{"name":"Syndrom zahrnující hypohidrózu, elektrolytovou nerovnováhu, dysfunkci slzné žlázy, ichtyózu a xerostomii","synonyms":["Syndrom HELIX"]},"uk":{"name":"Синдром гіпогідрозу-електролітного дисбалансу-дисфункціїя слізних залоз-іхтіозу-ксеростомії","synonyms":["Синдром HELIX"],"definition":"A rare genetic disease characterized by abnormalities in renal ion transport, ectodermal gland homeostasis, and epidermal integrity, resulting in generalized hypohidrosis, heat intolerance, salt-losing nephropathy, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, and xerostomia. Development of nephrolithiasis and severe enamel wear have also been described. Laboratory findings include hypermagnesemia, hypokalemia, hypercalcemia, and hypocalciuria."},"zh":{"name":"少汗症-电解质失衡-泪腺功能障碍-鱼鳞癣-口腔干燥综合症","synonyms":["HELIX syndrome"]},"tr":{"name":"Hipohidroz-elektrolit dengesizliği-lakrimal bez disfonksiyonu-iktiyoz-kserostomi sendromu","synonyms":["HELIX sendromu"]}},"xrefs":[{"source":"OMIM","code":"617671","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"N25.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"GB90.4Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0060564","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4522164","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93626,"name":"Rare renal disease"},"parents":[{"orpha":98604,"name":"Congenital alacrima","classifications":[156,189]},{"orpha":183592,"name":"Genetic renal tubular disease","classifications":[156]},{"orpha":506213,"name":"Rare disorder potentially indicated for kidney transplant","classifications":[233]},{"orpha":93603,"name":"Rare renal tubular disease","classifications":[188]}],"children":[],"genes":[{"symbol":"CLDN10","name":"claudin 10","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"28674042[PMID]","hgnc":"2033","ensembl":"ENSG00000134873","omim":"617579","loci":["13q32.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Adult","Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":22.0,"area":"Worldwide","status":"Validated","source":"DOI: https://doi.org/10.1053/j.ajkd.2018.08.015[OTHER]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_DOI: https://doi.org/10.1053/j.ajkd.2018.08.015[OTHER]"}],"phenotypes":null}