{"orpha":707937,"name":"Distal arthrogryposis-progressive scoliosis-thumb deformity-impaired proprioception syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["DAIPT","Distal arthrogryposis with impaired proprioception and touch"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-707937/","orphanet_url":"https://www.orpha.net/en/disease/detail/707937","names":{"fr":{"name":"Syndrome d'arthrogrypose distale-scoliose progressive-deformation du pouce-altération de la proprioception","synonyms":["DAIPT"]},"de":{"name":"Distale Arthrogrypose-progressive Skoliose-Daumenfehlbildung-gestörte-Propriozeption-Syndrom","synonyms":["DAIPT","Distale Arthrogrypose mit Störung des Tastsinns und der Propriozeption"]},"es":{"name":"Síndrome de artrogriposis distal-escoliosis progresiva-deformidad del pulgar-alteraciones propioceptivas","synonyms":["Artrogriposis distal con alteraciones propioceptivas y del tacto","DAIPT"]},"it":{"name":"Sindrome artrogriposi distale-scoliosi progressiva-deformità dei pollici-compromissione della propriocezione","synonyms":["DAIPT","Artrogriposi distale con compromissione della propriocezione e del tatto"]},"nl":{"name":"Distale artrogrypose - progressieve scoliose - deformiteit van duim - verstoorde proprioceptie-syndroom","synonyms":["DAIPT","Distale artrogrypose - progressieve scoliose - duimmisvorming - verminderde positiezin-syndroom","Distale artrogrypose met verminderde positiezin en tastzin","Distale artrogrypose met verstoorde proprioceptie en tastzin"]},"pt":{"name":"Distal arthrogryposis-progressive scoliosis-thumb deformity-impaired proprioception syndrome"},"pl":{"name":"Zespół artrogrypozy dystalnej, postępującej skoliozy, deformacji kciuka i upośledzonej propriocepcjipośledzonej propriocepcji","synonyms":["DAIPT","Distal arthrogryposis with impaired proprioception and touch"]},"cs":{"name":"Distal arthrogryposis-progressive scoliosis-thumb deformity-impaired proprioception syndrome","synonyms":["DAIPT","Distal arthrogryposis with impaired proprioception and touch"]}},"xrefs":[{"source":"OMIM","code":"617146","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":97120,"name":"Distal arthrogryposis","classifications":[147,156]},{"orpha":207015,"name":"Rare hereditary disease with peripheral neuropathy","classifications":[156,181]}],"children":[],"genes":[{"symbol":"PIEZO2","name":"piezo type mechanosensitive ion channel component 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"27843126[PMID]_33995476[PMID]_30800044[PMID]","hgnc":"26270","ensembl":"ENSG00000154864","omim":"613629","loci":["18p11.22-p11.21"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":16.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}