{"orpha":453533,"name":"Polyendocrine-polyneuropathy syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare genetic disease characterized by childhood onset of multiple endocrine manifestations in combination with central and peripheral nervous system abnormalities. Reported signs and symptoms include postnatal growth retardation, moderate intellectual disability, hypogonadotropic hypogonadism, insulin-dependent diabetes mellitus, central hypothyroidism, demyelinating sensorimotor polyneuropathy, and cerebellar and pyramidal signs. Progressive hearing loss and a hypoplastic pituitary gland have also been described. Brain imaging shows moderate white matter abnormalities.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-453533/","orphanet_url":"https://www.orpha.net/en/disease/detail/453533","names":{"fr":{"name":"Syndrome de polyendocrinopathie-polyneuropathie","definition":"Maladie génétique rare caractérisée par de multiples manifestations endocriniennes en combinaison avec des anomalies du système nerveux central et périphérique apparaissant pendant l'enfance. Les signes cliniques et symptômes rapportés sont un retard de croissance postnatale, une déficience intellectuelle modérée, un hypogonadisme hypogonadotrope, un diabète sucré insulinodépendant, une hypothyroïdie centrale, une polyneuropathie sensorimotrice démyélinisante et des signes cérébelleux et pyramidaux. Une perte auditive progressive et une hypoplasie de l'hypophyse ont également été décrites. L'IRM révèle de légères anomalies de la substance blanche."},"de":{"name":"Polyendokrine Polyneuropathie-Syndrom","definition":"Eine seltene genetische Erkrankung, bei der im Kindesalter multiple endokrine Symptome in Kombination mit Anomalien des zentralen und peripheren Nervensystems auftreten. Zu den berichteten Anzeichen und Symptomen gehören postnatale Wachstumsretardierung, mäßige Intelligenzminderung, hypogonadotroper Hypogonadismus, insulinabhängiger Diabetes mellitus, zentrale Hypothyreose, demyelinisierende sensomotorische Polyneuropathie sowie zerebelläre und pyramidale Anzeichen. Auch eine progressive Schwerhörigkeit und eine hypoplastische Hypophyse sind beschrieben worden. Die Bildgebung des Gehirns zeigt moderate Anomalien der weißen Substanz."},"es":{"name":"Síndrome poliendocrino-polineuropatía","definition":"Es una enfermedad de base genética poco frecuente caracterizada por la aparición en la infancia de múltiples manifestaciones endocrinas acompañadas de anomalías del sistema nervioso central y periférico. Los signos y síntomas descritos incluyen retraso del crecimiento posnatal, discapacidad intelectual moderada, hipogonadismo hipogonadotrópico, diabetes mellitus insulinodependiente, hipotiroidismo central, polineuropatía sensitivo-motora desmielinizante y signos cerebelosos y piramidales. También se han descrito hipoacusia progresiva e hipoplasia hipofisaria. Las neuroimágenes muestran alteraciones moderadas de la sustancia blanca."},"it":{"name":"Sindrome poliendocrina-polineuropatia","definition":"Si tratta di una malattia genetica rara, che esordisce nell'infanzia con sintomi endocrini multipli associati ad anomalie del sistema nervoso centrale e periferico. I segni clinici comprendono il ritardo della crescita postnatale, la disabilità intellettiva moderata, l'ipogonadismo ipogonadotropo, il diabete mellito insulino-dipendente, l'ipotiroidismo centrale, la polineuropatia sensitivo-motoria demielinizzante, e i sintomi cerebellari e piramidali. I pazienti possono presentare ipoacusia progressiva e ipoplasia dell'ipofisi. Le neuroimmagini mostrano anomalie moderate della sostanza bianca."},"nl":{"name":"Polyendocrinopathie - polyneuropathie-syndroom","definition":"Een zeldzame, genetische aandoening, gekarakteriseerd door aanvang in de kindertijd van multipele endocriene manifestaties in combinatie met anomalieën van centraal en perifeer zenuwstelsel. Gerapporteerde verschijnselen en symptomen zijn onder meer postnatale groeiretardatie, matige intellectuele achterstand, hypogonadotroop hypogonadisme, insulineafhankelijke diabetes mellitus, centrale hypothyreoïdie, demyeliniserende sensorimotorische polyneuropathie, en cerebellaire en piramidale verschijnselen. Progressief gehoorverlies en hypoplastische hypofyse werden ook reeds beschreven. Beeldvorming van hersenen toont matige afwijkingen van witte stof."},"pt":{"name":"Síndrome de polineuropatia poliendócrina"},"pl":{"name":"Zespół poliendokrynopatii i polineuropatii"},"cs":{"name":"Polyendokrinní-polyneuropatický syndrom"},"uk":{"name":"Синдром поліендокринно-полінейропатії","definition":"A rare genetic disease characterized by childhood onset of multiple endocrine manifestations in combination with central and peripheral nervous system abnormalities. Reported signs and symptoms include postnatal growth retardation, moderate intellectual disability, hypogonadotropic hypogonadism, insulin-dependent diabetes mellitus, central hypothyroidism, demyelinating sensorimotor polyneuropathy, and cerebellar and pyramidal signs. Progressive hearing loss and a hypoplastic pituitary gland have also been described. Brain imaging shows moderate white matter abnormalities."},"zh":{"name":"多内分泌腺-多神经累及综合征"},"tr":{"name":"Poliendokrin-polinöropati sendromu"}},"xrefs":[{"source":"OMIM","code":"616113","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E34.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014497","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4015261","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":140459,"name":"Autosomal recessive hereditary demyelinating motor and sensory neuropathy","classifications":[156,181]},{"orpha":181381,"name":"Other rare diabetes mellitus","classifications":[193]},{"orpha":181387,"name":"Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism","classifications":[156,193,201,205]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]},{"orpha":177107,"name":"Syndromic hypothyroidism","classifications":[156,193]}],"children":[],"genes":[{"symbol":"DMXL2","name":"Dmx like 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25248098[PMID]","hgnc":"2938","ensembl":"ENSG00000104093","omim":"612186","loci":["15q21.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"25248098[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25248098[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-12-10","source":"25248098[PMID]","terms":[{"hpo":"HP:0007256","label":"Abnormal pyramidal sign","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001596","label":"Alopecia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030341","label":"Decreased circulating follicle stimulating hormone concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030344","label":"Decreased circulating luteinizing hormone level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040171","label":"Decreased serum testosterone concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008734","label":"Decreased testicular size","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007108","label":"Demyelinating peripheral neuropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001332","label":"Dystonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100287","label":"EMG: slow motor conduction","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001943","label":"Hypoglycemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000044","label":"Hypogonadotropic hypogonadism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002342","label":"Intellectual disability, moderate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001761","label":"Pes cavus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008897","label":"Postnatal growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001730","label":"Progressive hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008994","label":"Proximal muscle weakness in lower limbs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005978","label":"Type II diabetes mellitus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010627","label":"Anterior pituitary hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011787","label":"Central hypothyroidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001321","label":"Cerebellar hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040216","label":"Hypoinsulinemia","frequency":"Occasional (29-5%)","criteria":null}]}}