{"orpha":603699,"name":"Recessive KLHL7-related disorder","type":"Clinical group","group":"Group of disorders","status":"active","flags":[],"synonyms":[],"definition":"A group of multiple congenital anomalies syndromes associated to <i>KLHL7</i> biallelic variants, ranging from a phenotype partially overlapping the Bohring-Opitz syndrome (BOS) to a phenotype overlapping the Crisponi/Cold-Induced Sweating syndrome (CS/CISS), with some patients presenting features of both conditions.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-603699/","orphanet_url":"https://www.orpha.net/en/disease/detail/603699","names":{"fr":{"name":"Maladie récessive associée à KLHL7","definition":"Groupe de syndromes d'anomalies congénitales multiples associés à des mutations bi-alléliques de <i>KLHL7</i>, allant d'un phénotype présentant un chevauchement partiel avec le syndrome de Bohring-Opitz (SBO) à un phénotype présentant un chevauchement avec le syndrome de Crisponi/de la transpiration induite par le froid-like associé à <i>KLHL7</i>. Certains patients présentent des manifestations de ces deux maladies."},"de":{"name":"KLHL7-assoziierte Störung, autosomal-rezessive","definition":"Eine Gruppe von angeborenen multiplen Fehlbildungssyndromen, die mit biallelischen Varianten des <i>KLHL7</i>-Gens assoziiert sind. Sie reichen von einem Phänotyp, der sich teilweise mit dem des Bohring-Opitz-Syndroms (BOS) überlappt, bis zu einem Phänotyp, der sich mit dem des Crisponi-Syndroms/kälteinduzierten Schwitzens (CS/CISS) überlappt, wobei einige Patienten Merkmale beider Syndrome aufweisen."},"es":{"name":"Trastorno recesivo asociado a KLHL7","definition":"Es un grupo de síndromes de anomalías congénitas múltiples asociado a variantes bialélicas de <i>KLHL7</i>, que van desde un fenotipo que se solapa parcialmente con el síndrome de Bohring-Opitz (SBO) hasta un fenotipo que se solapa con el síndrome de Crisponi/sudoración inducida por frío (CS/CISS; por sus siglas en inglés), con algunos pacientes presentando características de ambos síndromes."},"it":{"name":"Malattia recessiva correlata a KLHL7"},"nl":{"name":"Recessieve KLHL7-gerelateerde aandoening","definition":"Een groep van syndromen met multipele congenitale anomalieën geassocieerd aan biallelische varianten van <i>KLHL7</i>, gaande van een fenotype dat deels overlapt met syndroom van Bohring-Opitz (BOS) tot een fenotype dat overlapt met syndroom van Crisponi/koudegeïnduceerd zweten-syndroom (CS/CISS), en sommige patiënten die kenmerken van beide aandoeningen vertonen."},"pt":{"name":"Doença KLHL7-relacionada recessiva","definition":"Grupo de síndromes de anomalias congénitas múltiplas associadas a variantes bialélicas de KLHL7, e varia entre um fenótipo sobreponível parcialmente à síndrome Bohring-Opitz (BOS) a um fenótipo que se sobrepõe à síndrome Crisponi/suor induzido pelo frio (CS/CISS) sendo que alguns doentes apresentam características de ambas as condições clínicas."},"pl":{"name":"Recesywne zaburzenie związane z KLHL7"},"cs":{"name":"Porucha související s KLHL7"},"uk":{"name":"Рецесивне захворювання, повязане з KLHL7","definition":"A group of multiple congenital anomalies syndromes associated to <i>KLHL7</i> biallelic variants, ranging from a phenotype partially overlapping the Bohring-Opitz syndrome (BOS) to a phenotype overlapping the Crisponi/Cold-Induced Sweating syndrome (CS/CISS), with some patients presenting features of both conditions."},"tr":{"name":"KLHL7-related disorder"}},"xrefs":[{"source":"UMLS","code":"C5816693","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":71859,"name":"Rare genetic neurological disorder","classifications":[156]},{"orpha":98006,"name":"Rare neurologic disease","classifications":[181]}],"children":[{"orpha":603684,"name":"KLHL7-related Bohring-Opitz-like and Crisponi/Cold-induced sweating-like overlap syndrome","type":"Malformation syndrome"},{"orpha":603689,"name":"KLHL7-related Bohring-Opitz-like syndrome","type":"Malformation syndrome"},{"orpha":603694,"name":"KLHL7-related Crisponi/cold-induced sweating-like syndrome","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":[],"prevalence":[],"phenotypes":null}