{"orpha":456312,"name":"Infantile multisystem neurologic-endocrine-pancreatic disease","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["IMNEPD"],"definition":"A rare multisystemic syndrome characterized by global developmental delay, postnatal microcephaly, intellectual disability, ataxia, sensorineural hearing loss, and exocrine pancreatic insufficiency. More variable manifestations include hypotonia, growth retardation, peripheral demyelinating neuropathy, dysmorphic facial features, and additional endocrine abnormalities. Brain imaging may show progressive cerebellar atrophy in some patients.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-456312/","orphanet_url":"https://www.orpha.net/en/disease/detail/456312","names":{"fr":{"name":"Maladie infantile multisystémique neurologique-endocrine-pancréatique","synonyms":["IMNEPD"],"definition":"Syndrome multisystémique rare caractérisé par un retard global du développement, une microcéphalie postnatale, une déficience intellectuelle, une ataxie, une perte auditive neurosensorielle et une insuffisance pancréatique exocrine. L'hypotonie, le retard de croissance, la neuropathie démyélinisante périphérique, la dysmorphie faciale et d'autres anomalies endocriniennes font partie des signes cliniques plus variables. L'IRM peut révéler une atrophie cérébelleuse progressive chez certains patients."},"de":{"name":"Infantile multisystemische neurologisch-endokrine-pankreatische Krankheit","synonyms":["IMNEPD"],"definition":"Ein seltenes multisystemisches Syndrom, das durch globale Entwicklungsverzögerung, postnatale Mikrozephalie, Intelligenzminderung, Ataxie, sensorineurale Schwerhörigkeit und exokrine Pankreasinsuffizienz gekennzeichnet ist. Zu den variableren Erscheinungsformen gehören Hypotonie, Wachstumsretardierung, periphere demyelinisierende Neuropathie, Gesichtsdysmorphien und zusätzliche endokrine Anomalien. Die Bildgebung des Gehirns kann bei einigen Patienten eine fortschreitende Atrophie des Kleinhirns zeigen."},"es":{"name":"Enfermedad infantil multisistémica neurológica-endocrina-pancreática","synonyms":["IMNEPD"],"definition":"Es un síndrome multisistémico poco frecuente caracterizado por retraso global del desarrollo psicomotor, microcefalia posnatal, ataxia, hipoacusia neurosensorial e insuficiencia pancreática exocrina. Las manifestaciones variables más comunes incluyen hipotonía, retraso del crecimiento, neuropatía desmielinizante periférica, rasgos faciales dismórficos y anomalías endocrinas adicionales. Las neuroimágenes pueden mostrar atrofia cerebelosa progresiva en algunos pacientes."},"it":{"name":"Malattia infantile multisistemica neurologica-endocrina-pancreatica","synonyms":["IMNEPD"],"definition":"Si tratta di una malattia rara da anomalie/dismorfismi congeniti multipli associata a disabilità intellettiva, caratterizzata da ritardo dello sviluppo globale, microcefalia postnatale, disabilità intellettiva, atassia, sordità neurosensoriale e insufficienza pancreatica esocrina. Altri segni clinici variabili sono l'ipotonia, il ritardo della crescita, la neuropatia demielinizzante periferica, i dismorfismi facciali e le anomalie endocrine. In alcuni pazienti, le neuroimmagini mostrano atrofia cerebellare progressiva."},"nl":{"name":"Infantiele multisystemische neurologische-endocriene-pancreatische ziekte","synonyms":["IMNEPD"],"definition":"Een zeldzaam multisystemisch syndroom, gekenmerkt door algehele ontwikkelingsachterstand, postnatale microcefalie, intellectuele achterstand, ataxie, sensorineuraal gehoorverlies, en insufficiëntie van exocriene pancreas. Meer variabele manifestaties zijn onder meer hypotonie, groeiretardatie, perifere demyeliniserende neuropathie, dysmorfe gelaatskenmerken, en bijkomende endocriene afwijkingen. Bij sommige patiënten toont beeldvorming van de hersenen mogelijk progressieve cerebellaire atrofie."},"pt":{"name":"Doença neurológica-endócrina-pancreática multissistémica da infância","synonyms":["IMNEPD"]},"pl":{"name":"Niemowlęca wielonarządowa choroba neurologiczno-endokrynologiczno-trzustkowa","synonyms":["IMNEPD"]},"cs":{"name":"Infantilní multisystémová neurologicko-endokrino-pankreatická choroba","synonyms":["IMNEPD"]},"uk":{"name":"Інфантильне мультисистемне неврологічно-ендокринно-панкреатичне захворювання","synonyms":["IMNEPD"],"definition":"A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterized by global developmental delay, postnatal microcephaly, intellectual disability, ataxia, sensorineural hearing loss, and exocrine pancreatic insufficiency. More variable manifestations include hypotonia, growth retardation, peripheral demyelinating neuropathy, dysmorphic facial features, and additional endocrine abnormalities. Brain imaging may show progressive cerebellar atrophy in some patients."},"zh":{"name":"婴儿多系统累及的神经-内分泌-胰腺疾病","synonyms":["IMNEPD"],"definition":"一种罕见的多发性先天性异常/畸形综合征，伴有智力障碍，其特点是全面发育迟缓、产后小头畸形、智力障碍、共济失调、感音神经性听力损失和胰腺外分泌功能不全。较多的表现包括肌张力低下、生长发育迟缓、周围脱髓鞘神经病变、面容畸形和其他内分泌异常。脑影像学检查可显示部分患者小脑进行性萎缩。"},"tr":{"name":"İnfantil multisistem nörolojik-endokrin-pankreas hastalığı","synonyms":["IMNEPD"]}},"xrefs":[{"source":"OMIM","code":"616263","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD90.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"8000012","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5779989","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":140459,"name":"Autosomal recessive hereditary demyelinating motor and sensory neuropathy","classifications":[156,181]},{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":165661,"name":"Genetic pancreatic disease","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":101937,"name":"Rare pancreatic disease","classifications":[152]},{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]},{"orpha":177107,"name":"Syndromic hypothyroidism","classifications":[156,193]}],"children":[],"genes":[{"symbol":"PTRH2","name":"peptidyl-tRNA hydrolase 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25574476[PMID]","hgnc":"24265","ensembl":"ENSG00000141378","omim":"608625","loci":["17q23.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"25574476[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25574476[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-06-16","source":"27129381[PMID]_31057140[PMID]","terms":[{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003693","label":"Distal amyotrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001738","label":"Exocrine pancreatic insufficiency","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002342","label":"Intellectual disability, moderate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001760","label":"Abnormal foot morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000309","label":"Abnormal midface morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001155","label":"Abnormality of the hand","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001771","label":"Achilles tendon contracture","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000248","label":"Brachycephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100307","label":"Cerebellar hemisphere hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000819","label":"Diabetes mellitus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002460","label":"Distal muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001310","label":"Dysmetria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002353","label":"EEG abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000577","label":"Exotropia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010628","label":"Facial palsy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100807","label":"Long fingers","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001530","label":"Mild postnatal growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001319","label":"Neonatal hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009623","label":"Proximal placement of thumb","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005484","label":"Secondary microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000219","label":"Thin upper lip vermilion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001844","label":"Abnormal hallux morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030146","label":"Abnormal liver parenchyma morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100800","label":"Aplasia/Hypoplasia of the pancreas","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001374","label":"Congenital hip dislocation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001558","label":"Decreased fetal movement","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003431","label":"Decreased motor nerve conduction velocity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003448","label":"Decreased sensory nerve conduction velocity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000823","label":"Delayed puberty","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008366","label":"Foot joint contracture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002123","label":"Generalized myoclonic seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006276","label":"Hyperechogenic pancreas","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000821","label":"Hypothyroidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012418","label":"Hypoxemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009473","label":"Joint contracture of the hand","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000049","label":"Shawl scrotum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030951","label":"Skeletal muscle fibrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001772","label":"Talipes equinovalgus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009464","label":"Ulnar deviation of the 2nd finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009463","label":"Ulnar deviation of the 3rd finger","frequency":"Occasional (29-5%)","criteria":null}]}}