{"orpha":1143,"name":"Neurogenic arthrogryposis multiplex congenita","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A form of arthrogryposis multiplex congenita characterized by congenital immobility of the limbs with fixation of multiple joints and muscle wasting. This condition is secondary to neurogenic muscular atrophy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1143/","orphanet_url":"https://www.orpha.net/en/disease/detail/1143","names":{"fr":{"name":"Arthrogrypose congénitale multiple neurogénique","definition":"Forme d'arthrogrypose congénitale multiple caractérisée par une immobilité congénitale des membres avec raideur de plusieurs articulations et une fonte musculaire. La maladie est secondaire à une atrophie musculaire neurogène."},"de":{"name":"Arthrogryposis multiplex congenita, neurogener Typ","synonyms":["Neurogene AMC"],"definition":"Eine Unterform der Arthrogryposis multiplex congenita, die durch eine angeborene Immobilität der Gliedmaßen mit Fixierung mehrerer Gelenke und Muskelschwund gekennzeichnet ist. Dieser Zustand ist sekundär zu einer neurogenen Muskelatrophie."},"es":{"name":"Artrogriposis múltiple congénita tipo neurogénico","definition":"Es una forma de artrogriposis múltiple congénita caracterizada por la inmovilidad congénita de las extremidades con fijación de múltiples articulaciones y atrofia muscular. Esta condición es secundaria a la atrofia muscular neurogénica."},"it":{"name":"Artrogriposi congenita multipla tipo neurogeno","definition":"L'artrogriposi congenita multipla tipo neurogeno è una forma di artrogriposi congenita multipla caratterizzata da immobilità congenita degli arti, associata a rigidità di diverse articolazioni ed atrofia muscolare. La malattia è secondaria all'atrofia muscolare neurogena."},"nl":{"name":"Neurogene arthrogryposis multiplex congenita","definition":"Neurogene arthrogryposis multiplex congenita is een vorm van arthrogryposis multiplex congenita die gekarakteriseerd wordt door aangeboren immobiliteit van de ledematen met fixatie van meerdere gewrichten en spieratrofie. Deze aandoening is het gevolg van neurogene spieratrofie."},"pt":{"name":"Artrogripose múltipla congénita tipo neurogénico"},"pl":{"name":"Wrodzona wielostawowa artrogrypoza pochodzenia neurogennego","definition":"Postać wrodzonej złożonej artrogrypozy charakteryzująca się wrodzonym unieruchomieniem kończyn z usztywnieniem wielu stawów oraz zanikiem mięśni. Jest to stan jest wtórny do neurogennego zaniku mięśni."},"cs":{"name":"Arthrogryposis multiplex congenita, neurogenní forma","synonyms":["Amyoplasia congenita, neuropatická forma","Syndrom mnohočetných kloubních kontraktur, neuropatická forma"]},"uk":{"name":"Нейрогенний множинний вроджений артрогрипоз","definition":"A form of arthrogryposis multiplex congenita characterized by congenital immobility of the limbs with fixation of multiple joints and muscle wasting. This condition is secondary to neurogenic muscular atrophy."},"zh":{"name":"先天性多发性神经源性关节挛缩"},"tr":{"name":"Nörojenik artrogripozis multipleks konjenita"}},"xrefs":[{"source":"OMIM","code":"208100","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618766","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q74.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD26.41","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1594376206"},{"source":"MONDO","code":"0008823","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536614","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1859721","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"790","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":1037,"name":"Arthrogryposis multiplex congenita","classifications":[147,156]}],"children":[],"genes":[{"symbol":"COL25A1","name":"collagen type XXV alpha 1 chain","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"35077597[PMID]","hgnc":"18603","ensembl":"ENSG00000188517","omim":"610004","loci":["4q25"]},{"symbol":"ERGIC1","name":"endoplasmic reticulum-golgi intermediate compartment 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"28317099[PMID]","hgnc":"29205","ensembl":"ENSG00000113719","omim":"617946","loci":["5q35.1"]},{"symbol":"SCYL2","name":"SCY1 like pseudokinase 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"31960134[PMID]","hgnc":"19286","ensembl":"ENSG00000136021","omim":"616365","loci":["12q23.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":4.3,"area":"Europe","status":"Not yet validated","source":"23050160[PMID]_22005589[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-07-12","source":"21345701[PMID]_28317099[PMID]","terms":[{"hpo":"HP:0001371","label":"Flexion contracture","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0003444","label":"EMG: chronic denervation signs","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006466","label":"Ankle flexion contracture","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001284","label":"Areflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002987","label":"Elbow flexion contracture","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006380","label":"Knee flexion contracture","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007340","label":"Lower limb muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008180","label":"Mildly elevated creatine kinase","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003202","label":"Skeletal muscle atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003484","label":"Upper limb muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001239","label":"Wrist flexion contracture","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007477","label":"Abnormal dermatoglyphics","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001627","label":"Abnormal heart morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008807","label":"Acetabular dysplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0410263","label":"Brain imaging abnormality","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001623","label":"Breech presentation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001558","label":"Decreased fetal movement","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008110","label":"Equinovarus deformity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002380","label":"Fasciculations","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003273","label":"Hip contracture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002827","label":"Hip dislocation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002058","label":"Myopathic facies","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001562","label":"Oligohydramnios","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001357","label":"Plagiocephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002098","label":"Respiratory distress","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002747","label":"Respiratory insufficiency due to muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001838","label":"Rocker bottom foot","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030799","label":"Scaphocephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010781","label":"Skin dimple","frequency":"Occasional (29-5%)","criteria":null}]}}