{"orpha":700508,"name":"Distal muscle weakness-foot deformity-elevated sorbitol level-hereditary motor neuropathy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Sorbitol dehydrogenase deficiency"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-700508/","orphanet_url":"https://www.orpha.net/en/disease/detail/700508","names":{"fr":{"name":"Faiblesse musculaire distale-déformation du pied-niveau élevé de sorbitol-neuropathie motrice héréditaire","synonyms":["Déficit en sorbitol dehydrogenase"]},"de":{"name":"Distale Muskelschwäche mit Fußfehlbildung, erhöhtem Sorbitolspiegel und hereditärer motorischer Neuropathie","synonyms":["Neuropathie, distale hereditäre motorische, autosomal-rezessive, 8","Sorbitol-Dehydrogenase-Mangel"]},"es":{"name":"Neuropatía motora hereditaria con debilidad muscular distal-deformidad del pie-elevación de sorbitol","synonyms":["Deficiencia de SORD","Deficiencia de sorbitol deshidrogenasa"]},"it":{"name":"Debolezza muscolare distale-deformità dei piedi-livelli elevati di sorbitolo-neuropatia motoria ereditaria","synonyms":["Deficit di sorbitolo deidrogenasi"]},"nl":{"name":"Distale spierzwakte - voetmisvorming - verhoogd sorbitolgehalte - hereditaire motorische neuropathie","synonyms":["Deficiëntie van sorbitoldehydrogenase"]},"pt":{"name":"Distal muscle weakness-foot deformity-elevated sorbitol level-hereditary motor neuropathy"},"pl":{"name":"Distal muscle weakness-foot deformity-elevated sorbitol level-hereditary motor neuropathy","synonyms":["Sorbitol dehydrogenase deficiency"]},"cs":{"name":"Distal muscle weakness-foot deformity-elevated sorbitol level-hereditary motor neuropathy","synonyms":["Sorbitol dehydrogenase deficiency"]}},"xrefs":[{"source":"OMIM","code":"618912","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":91024,"name":"Autosomal recessive axonal hereditary motor and sensory neuropathy","classifications":[156,181]},{"orpha":140468,"name":"Autosomal recessive distal hereditary motor neuropathy","classifications":[156,181]}],"children":[],"genes":[{"symbol":"SORD","name":"sorbitol dehydrogenase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"32367058[PMID]_36943151[PMID]","hgnc":"11184","ensembl":"ENSG00000140263","omim":"182500","loci":["15q21.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}