{"orpha":542657,"name":"Isolated hyperchlorhidrosis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Carbonic anhydrase XII deficiency"],"definition":"A rare genetic skin disease characterized by excessive salt wasting in sweat, leading to hyponatremic dehydration, hyperkalemia, and poor feeding and slow weight gain in infancy. Laboratory examination shows hyponatremia, hyperkalemia, increased aldosterone, and increased sweat chloride concentrations.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-542657/","orphanet_url":"https://www.orpha.net/en/disease/detail/542657","names":{"fr":{"name":"Hyperchlorhidrose isolée","synonyms":["Déficit en anhydrase carbonique XII"],"definition":"Maladie génétique rare de la peau caractérisée par une perte excessive de sel à travers la sueur, entraînant une déshydratation hyponatrémique, une hyperkaliémie, une alimentation de qualité insuffisante et une prise de poids lente dans la petite enfance. Le bilan biologique révèle une hyponatrémie, une hyperkaliémie, une augmentation de l'aldostérone et une augmentation des concentrations de chlorure dans la sueur."},"de":{"name":"Hyperchlorhydrie, isolierte","synonyms":["Carboanhydrase XII-Mangel"],"definition":"Eine seltene genetische Hautkrankheit, die durch übermäßigen Salzverlust im Schweiß gekennzeichnet ist und zu hyponatriämischer Dehydratation, Hyperkaliämie, schlechter Nahrungsaufnahme und langsamer Gewichtszunahme im Säuglingsalter führt. Die Laboruntersuchung zeigt Hyponatriämie, Hyperkaliämie, erhöhtes Aldosteron und erhöhte Chloridkonzentrationen im Schweiß."},"es":{"name":"Hiperclorhidrosis aislada","synonyms":["Deficiencia de anhidrasa carbónica XII"],"definition":"Es una enfermedad genética de la piel poco frecuente caracterizada por una pérdida excesiva de sal en el sudor que conduce a una deshidratación hiponatrémica, hiperpotasemia, alimentación deficiente y escasa ganancia ponderal en la infancia. Las pruebas de laboratorio muestran hiponatremia, hiperpotasemia, aumento de la aldosterona e incremento de las concentraciones de cloruro en el sudor."},"it":{"name":"Ipercloridrosi isolata","definition":"Si tratta di una malattia genetica rara della cute, caratterizzata da perdita eccessiva di sali attraverso il sudore, che esita nella disidratazione iponatriemica, iperkaliemia, difficoltà di alimentazione e uno scarso aumento di peso nella prima infanzia. Gli esami di laboratorio evidenziano iponatriemia, iperkaliemia, livelli elevati di aldosterone e un aumento della concentrazione del cloro nel sudore."},"nl":{"name":"Geïsoleerde hyperchlorhidrose","synonyms":["Koolzuuranhydrase XII-deficiëntie"],"definition":"Een zeldzame, genetische aandoening van huid, gekarakteriseerd door excessief verlies van zout in zweet, wat leidt tot hyponatriëmische dehydratie, hyperkaliëmie, en ondermaatse voeding en trage gewichtstoename in de zuigelingentijd. Laboratoriumonderzoek toont hyponatriëmie, hyperkaliëmie, verhoogd aldosteron, en verhoogde chlorideconcentratie in zweet."},"pt":{"name":"Hipercloridrose isolada"},"pl":{"name":"Izolowane nadmierne wydzielanie chlorków w pocie","synonyms":["Carbonic anhydrase XII deficiency"]},"cs":{"name":"Izolovaná hyperchlorhidróza","synonyms":["Deficit karbonické anhydrázy XII"]},"uk":{"name":"Ізольований гіперхлоргідроз","synonyms":["Дефіцит карбоангідрази XII"],"definition":"A rare genetic skin disease characterized by excessive salt wasting in sweat, leading to hyponatremic dehydration, hyperkalemia, and poor feeding and slow weight gain in infancy. Laboratory examination shows hyponatremia, hyperkalemia, increased aldosterone, and increased sweat chloride concentrations."},"zh":{"name":"孤立性高氯性多汗症","synonyms":["碳酸酐酶XII缺乏症"]},"tr":{"name":"İzole hiperklorhidroz","synonyms":["Karbonik anhidraz XII eksikliği"]}},"xrefs":[{"source":"OMIM","code":"143860","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"L74.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"EE0Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0007747","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1840437","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":183447,"name":"Genetic epidermal appendage anomaly","classifications":[156]},{"orpha":726843,"name":"Sweat glands anomaly","classifications":[187]}],"children":[],"genes":[{"symbol":"CA12","name":"carbonic anhydrase 12","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21035102[PMID]","hgnc":"1371","ensembl":"ENSG00000074410","omim":"603263","loci":["15q22.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":13.0,"area":"Worldwide","status":"Validated","source":"21035102[PMID]_26911677[PMID]_21184099[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_21035102[PMID]_26911677[PMID]_21184099[PMID]"}],"phenotypes":null}