{"orpha":603684,"name":"KLHL7-related Bohring-Opitz-like and Crisponi/Cold-induced sweating-like overlap syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["PERCHING syndrome"],"definition":"A rare genetic, multiple congenital anomalies syndrome characterized by the overlap of several typical clinical features of Bohring-Opitz syndrome and of Crisponi Syndrome/cold-induced sweating syndrome.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-603684/","orphanet_url":"https://www.orpha.net/en/disease/detail/603684","names":{"fr":{"name":"Syndrome de chevauchement des syndromes de Bohring-Opitz-like et de Crisponi/transpiration induite par le froid-like","synonyms":["Syndrome de PERCHING"],"definition":"Syndrome génétique rare d'anomalies congénitales multiples caractérisé par le chevauchement de plusieurs caractéristiques cliniques typiques du syndrome de Bohring-Opitz et du syndrome de Crisponi/transpiration induite par le froid-like."},"de":{"name":"KLHL7-assoziiertes Bohring-Opitz und Crisponi/CISS-ähnliches Overlap-Syndrom","synonyms":["PERCHING-Syndrom"],"definition":"Ein seltenes genetisches Syndrom mit multiplen angeborenen Anomalien, das durch die Überlappung mehrerer typischer klinischer Merkmale des Bohring-Opitz-Syndroms und des Crisponi-Syndroms/Kälte-induzierten Schwitzens gekennzeichnet ist."},"es":{"name":"Síndrome de solapamiento del síndrome tipo Crisponi/síndrome de sudoración por frío y del síndrome tipo Bohring-Opitz asociado a KLHL7","synonyms":["Síndrome PERCHING","Síndrome de solapamiento del sindrome de Crisponi/síndrome de sudoración por frío-like y del síndrome de Bohring-Opitz-like asociado a KLHL7"],"definition":"Es un síndrome poco frecuente de anomalías congénitas múltiples de origen genético caracterizado por el solapamiento de varios rasgos clínicos típicos del síndrome de Bohring-Opitz y del síndrome de Crisponi o síndrome de sudoración inducida por frío."},"it":{"name":"Sindrome da sovrapposizione della sindrome simil-Bohring-Opitz correlata a KLHL7 e della sindrome simil-Crisponi/sudorazione indotta dal freddo","synonyms":["Sindrome PERCHING"]},"nl":{"name":"KLHL7-gerelateerd Bohring-Opitz-achtig en Crisponi/koudegeïnduceerd zweten-achtig overlapsyndroom","synonyms":["PERCHING-syndroom"],"definition":"Een zeldzaam, genetisch syndroom met multipele congenitale anomalieën, gekenmerkt door overlap van meerdere typische klinische kenmerken van syndroom van Bohring-Opitz en van syndroom van Crisponi/koudegeïnduceerd zweten-syndroom."},"pt":{"name":"Síndrome de sobreposição Bohring-Opitz-like e Crisponi/sudação-like induzida pelo frio KLHL7-relacionada","synonyms":["Síndrome PERCHING"],"definition":"Síndrome genética rara de múltiplas anomalias congénitas, caracterizada pela sobreposição de diversas características clínicas típicas da síndrome Bohring-Opitz e da síndrome Crisponi/síndrome da sudorese induzida pelo frio."},"pl":{"name":"Nakładanie zależnego od KLHL7 zespołu podobnego do Bohring-Opitz/pocenia wywołanego zimnem","synonyms":["PERCHING syndrome"],"definition":"Rzadki zespół genetyczny z licznymi wadami wrodzonymi, który charakteryzuje się nakładaniem kilku typowych cech klinicznych zespołu Bohringa-Opitza i zespołu Crisponiego/zespołu pocenia wywołanego zimnem."},"cs":{"name":"Překryvný syndrom podobný Bohringovu-Opitzovu syndromu a syndromu pocení vyvolaného chladem související s KLHL7","synonyms":["PERCHING syndrome"]},"uk":{"name":"KLHL7-повязана група синдромів типу Борінга-Опітца та Криспоні/Overlap-синдром холодоіндукованого потовиділення","synonyms":["Синдром PERCHING"],"definition":"A rare genetic, multiple congenital anomalies syndrome characterized by the overlap of several typical clinical features of Bohring-Opitz syndrome and of Crisponi Syndrome/cold-induced sweating syndrome."},"tr":{"name":"KLHL7-related Bohring-Opitz-like/Cold-induced sweating-like overlap syndrome","synonyms":["PERCHING syndrome"]}},"xrefs":[{"source":"OMIM","code":"617055","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014890","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4310742","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":401993,"name":"Cold-induced sweating syndrome-hyperthermia spectrum","classifications":[156,181]},{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":716405,"name":"Rare disorder with progressive generalized retinal disorder as a major feature","classifications":[156,189]},{"orpha":603699,"name":"Recessive KLHL7-related disorder","classifications":[156,181]}],"children":[],"genes":[{"symbol":"KLHL7","name":"kelch like family member 7","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"29074562[PMID]","hgnc":"15646","ensembl":"ENSG00000122550","omim":"611119","loci":["7p15.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"30300710[PMID]_30142437[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"30300710[PMID]_30142437[PMID]_ORPHANET"}],"phenotypes":null}