{"orpha":298,"name":"Mitochondrial neurogastrointestinal encephalomyopathy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["MNGIE"],"definition":"Mitochondrial NeuroGastroIntestinal Encephalomyopathy (MNGIE) syndrome is characterized by the association of gastrointestinal dysmotility, peripheral neuropathy, chronic progressive external ophthalmoplegia and leukoencephalopathy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-298/","orphanet_url":"https://www.orpha.net/en/disease/detail/298","names":{"fr":{"name":"Encéphalopathie myo-neuro-gastrointestinale","synonyms":["Encéphalomyopathie mitochondriale neuro-gastro-intestinale","MNGIE"],"definition":"L'encéphalopathie myo-neuro-gastrointestinale désignée par l'acronyme MNGIE (Mitochondrial NeuroGastroIntestinal Encephalomyopathy) associe des troubles de la motricité gastro-intestinale, une neuropathie périphérique, une ophtalmoplégie externe chronique progressive et une leucoencéphalopathie."},"de":{"name":"Enzephalomyopathie, mitochondriale neurogastrointestinale","synonyms":["MNGIE-Syndrom"],"definition":"Das Mitochondriale Neuro-gastro-intestinale Enzephalomyopathie (MNGIE)-Syndrom ist gekennzeichnet durch die Assoziation von gastro-intestinalen Motilitätsstörungen, peripherer Neuropathie, chronisch-progredienter externer Ophthalmoplegie und Leukoenzephalopathie."},"es":{"name":"Encefalomiopatía neurogastrointestinal mitocondrial","synonyms":["MNGIE"],"definition":"Es un síndrome caracterizado por la asociación de dismotilidad gastrointestinal, neuropatía periférica, oftalmoplejía externa progresiva crónica y leucoencefalopatía."},"it":{"name":"Encefalomiopatia neurogastrointestinale mitocondriale","synonyms":["MNGIE"]},"nl":{"name":"Mitochondriale neurogastro-intestinale encefalomyopathie","synonyms":["MNGIE"],"definition":"Mitochondriale neurogastro-intestinale encefalomyopathie (MNGIE) wordt gekenmerkt door de associatie van gastro-intestinale motiliteitsstoornis, perifere neuropathie, chronische progressieve externe oftalmoplegie, en leuko-encefalopathie."},"pt":{"name":"Encefalomiopatia neurogastrointestinal mitocondrial","synonyms":["MNGIE"],"definition":"A síndrome de encefalopatia neurogastrointestinal mitocondrial (MNGIE) é caracterizada pela associação de dismotilidade gastrointestinal, neuropatia periférica, oftalmoplegia externa progressiva crónica e leucoencefalopatia."},"pl":{"name":"Zespół mitochondrialnej encefalomiopatii dotyczącej układu nerwowego, żołądka i jelit","synonyms":["MNGIE"]},"cs":{"name":"Mitochondriální neurogastrointestinální encefalomyopatie","synonyms":["MNGIE"]},"uk":{"name":"Мітохондріальна нейрогастроінтестинальна енцефаломіопатія","synonyms":["MNGIE"],"definition":"Mitochondrial NeuroGastroIntestinal Encephalomyopathy (MNGIE) syndrome is characterized by the association of gastrointestinal dysmotility, peripheral neuropathy, chronic progressive external ophthalmoplegia and leukoencephalopathy."},"zh":{"name":"线粒体神经胃肠型脑肌病","synonyms":["MNGIE"]},"tr":{"name":"Mitokondriyal nörogastrointestinal ensefalomiyopati","synonyms":["MNGIE"]}},"xrefs":[{"source":"OMIM","code":"603041","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"612075","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613662","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619780","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G71.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C53.20","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"733688721"},{"source":"MONDO","code":"0017575","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0872218","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9920","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10065271","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":79193,"name":"Disorder of pyrimidine metabolism","classifications":[150,156]},{"orpha":104013,"name":"Metabolic disease with intestinal involvement","classifications":[152,156]},{"orpha":352456,"name":"Mitochondrial DNA maintenance syndrome","classifications":[150,156]},{"orpha":225700,"name":"Mitochondrial disease with epilepsy","classifications":[156,181]},{"orpha":225703,"name":"Mitochondrial disease with peripheral neuropathy","classifications":[156,181]},{"orpha":206966,"name":"Mitochondrial myopathy","classifications":[156,181]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]},{"orpha":98578,"name":"Rare disorder with ptosis","classifications":[147,156,189]},{"orpha":522522,"name":"Rare genetic neuromuscular disorder with ocular motility/alignment anomaly","classifications":[156]},{"orpha":717874,"name":"Rare inborn error of metabolism with inflammatory bowel disease","classifications":[152,156,233]},{"orpha":519347,"name":"Rare neuromuscular disorder with ocular motility/alignment anomaly","classifications":[189]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"TYMP","name":"thymidine phosphorylase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"21933806[PMID]","hgnc":"3148","ensembl":"ENSG00000025708","omim":"131222","loci":["22q13.33"]},{"symbol":"LIG3","name":"DNA ligase 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"33855352[PMID]","hgnc":"6600","ensembl":"ENSG00000005156","omim":"600940","loci":["17q12"]},{"symbol":"POLG","name":"DNA polymerase gamma, catalytic subunit","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"12825077[PMID]","hgnc":"9179","ensembl":"ENSG00000140521","omim":"174763","loci":["15q26.1"]},{"symbol":"RRM2B","name":"ribonucleotide reductase regulatory TP53 inducible subunit M2B","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"19667227[PMID]","hgnc":"17296","ensembl":"ENSG00000048392","omim":"604712","loci":["8q22.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Adult","Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.1,"area":"Europe","status":"Validated","source":"European Medicines Agency[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.3,"area":"Israel","status":"Validated","source":"33239050[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.5,"area":"Specific population","status":"Validated","source":"33239050[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-12-04","source":"20301358[PMID]_17437622[PMID]_22908072[PMID]_22908072[PMID]","terms":[{"hpo":"HP:0003270","label":"Abdominal distention","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0025149","label":"Atrophic muscularis propria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004326","label":"Cachexia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000544","label":"External ophthalmoplegia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002579","label":"Gastrointestinal dysmotility","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002352","label":"Leukoencephalopathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002018","label":"Nausea","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004396","label":"Poor appetite","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007141","label":"Sensorimotor neuropathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012850","label":"Small intestinal dysmotility","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002013","label":"Vomiting","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002500","label":"Abnormal cerebral white matter morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008049","label":"Abnormality of the extraocular muscles","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011024","label":"Abnormality of the gastrointestinal tract","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001155","label":"Abnormality of the hand","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012103","label":"Abnormality of the mitochondrion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003431","label":"Decreased motor nerve conduction velocity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003387","label":"Decreased number of large peripheral myelinated nerve fibers","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003448","label":"Decreased sensory nerve conduction velocity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007108","label":"Demyelinating peripheral neuropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002014","label":"Diarrhea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002460","label":"Distal muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003388","label":"Easy fatigability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002910","label":"Elevated circulating hepatic transaminase concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009027","label":"Foot dorsiflexor weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003348","label":"Hyperalaninemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002922","label":"Increased CSF protein concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003128","label":"Lactic acidosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000597","label":"Ophthalmoparesis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003401","label":"Paresthesia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003477","label":"Peripheral axonal neuropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009830","label":"Peripheral neuropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003200","label":"Ragged-red muscle fibers","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025461","label":"Abnormal cell morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001394","label":"Cirrhosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003199","label":"Decreased muscle mass","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000815","label":"Hypergonadotropic hypogonadism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000044","label":"Hypogonadotropic hypogonadism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001403","label":"Macrovesicular hepatic steatosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000726","label":"Dementia","frequency":"Very rare (<4-1%)","criteria":null}]}}