{"orpha":686999,"name":"Lipodystrophy-demyelinating peripheral sensory-motor neuropathy syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["PLAAT3-related lipodystrophy syndrome"],"definition":"A rare primary lipodystrophy characterized by partial to generalized loss of fat, associated with metabolic complications and variable neurological manifestations. Most patients present with lipoatrophy of the limbs and trunk, associated with muscular hypertrophy. Metabolic complications include insulin-resistant diabetes mellitus, hypertriglyceridemia, and hepatic steatosis. Major neurological involvement is characterized by demyelinating polyneuropathy. Intellectual disability has also been reported in some patients. Females may present with hirsutism, hyperandrogenism, and polycystic ovary syndrome, while males present with gynecomastia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-686999/","orphanet_url":"https://www.orpha.net/en/disease/detail/686999","names":{"fr":{"name":"Syndrome de lipodystrophie-neuropathie périphérique sensitivo-motrice démyélinisante","synonyms":["Syndrome de lipodystrophie associé à PLAAT3"],"definition":"Lipodystrophie primitive rare caractérisée par une perte partielle à généralisée de graisse, associée à des complications métaboliques et à des manifestations neurologiques variables. La plupart des patients présentent une lipoatrophie des membres et du tronc, associée à une hypertrophie musculaire. Les complications métaboliques comprennent le diabète sucré insulinorésistant, l'hypertriglycéridémie et la stéatose hépatique. Une polyneuropathie démyélinisante est l'atteinte neurologique majeure. Une déficience intellectuelle a également été rapportée chez certains patients. Les femmes peuvent présenter un hirsutisme, une hyperandrogénie et un syndrome des ovaires polykystiques, tandis que les hommes présentent une gynécomastie."},"de":{"name":"Lipodystrophie-demyelinisierende periphere sensomotorische Neuropathie-Syndrom","synonyms":["Lipodystrophie, familiäre partielle, Typ 9","Lipodystrophie-Syndrom, PLAAT3-assoziiertes"]},"es":{"name":"Síndrome de lipodistrofia-neuropatía periférica sensitivo-motora desmielinizante","synonyms":["Síndrome de lipodistrofia asociada a PLAAT3"]},"it":{"name":"Sindrome lipodistrofia-neuropatia sensitivo-motoria periferica demielinizzante","synonyms":["Sindrome da lipodistrofia correlata a PLAAT3"]},"nl":{"name":"Lipodystrofie - demyeliniserende perifere sensorimotorische neuropathie-syndroom","synonyms":["PLAAT3-gerelateerde lipodystrofie-syndroom"]},"pt":{"name":"Síndrome de lipodistrofia-neuropatia desmielinizante sensitivo-motora periférica","synonyms":["Síndrome de lipodistrofia PLAAT3-relacionada"]},"pl":{"name":"Zespół lipodystrofii i obwodowej demielinizacyjnej neuropatii czuciowo-ruchowej","synonyms":["PLAAT3-related lipodystrophy syndrome"]},"cs":{"name":"Syndrom zahrnující lipodystrofii a demyelinizační periferní senzoricko-motorickou neuropatii","synonyms":["PLAAT3-related lipodystrophy syndrome"]}},"xrefs":[{"source":"OMIM","code":"620683","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"958034","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":140459,"name":"Autosomal recessive hereditary demyelinating motor and sensory neuropathy","classifications":[156,181]},{"orpha":98305,"name":"Genetic lipodystrophy","classifications":[156,187,193]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"PLAAT3","name":"phospholipase A and acyltransferase 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"37919452[PMID]","hgnc":"17825","ensembl":"ENSG00000176485","omim":"613867","loci":["11q12.3-q13.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":[],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":7.0,"area":"Worldwide","status":"Validated","source":"37919452[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"37919452[PMID]_ORPHANET"}],"phenotypes":null}