{"orpha":34520,"name":"Congenital muscular dystrophy with integrin alpha-7 deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Congenital muscular dystrophy with ITGA7 deficiency"],"definition":"Congenital muscular dystrophy with integrin alpha-7 deficiency is a rare, genetic, congenital muscular dystrophy due to extracellular matrix protein anomaly characterized by early motor development delay and muscle weakness with mild elevation of serum creatine kinase, that may be followed by progressive disease course with predominantly proximal muscle weakness and atrophy, motor development regress, scoliosis and respiratory insufficiency.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-34520/","orphanet_url":"https://www.orpha.net/en/disease/detail/34520","names":{"fr":{"name":"Dystrophie musculaire congénitale par déficit en intégrine alpha-7","synonyms":["Dystrophie musculaire congénitale par déficit en ITGA7"],"definition":"Dystrophie musculaire congénitale rare, génétique, due à une anomalie de la protéine de la matrice extracellulaire, caractérisée par un retard précoce du développement moteur et une faiblesse musculaire avec une légère élévation de la créatine kinase sérique, qui peut être suivie d'une évolution progressive de la maladie avec une faiblesse et une atrophie musculaires, principalement proximales, une régression du développement moteur, une scoliose et une insuffisance respiratoire."},"de":{"name":"Kongenitale Myopathie mit Integrin-alpha-7-Mangel","synonyms":["Muskeldystrophie, kongenitale, mit ITGA7-Defizienz"]},"es":{"name":"Distrofia muscular congénita con deficiencia de integrina alfa-7","synonyms":["Distrofia muscular congénita con deficiencia de ITGA7"],"definition":"La distrofia muscular congénita con deficiencia de integrina alfa-7, es una distrofia muscular congénita, genética y poco frecuente, debida a una anomalía de la proteína de la matriz extracelular. Está caracterizada por retraso del desarrollo motor temprano y debilidad muscular con leve incremento de la creatinquinasa sérica, que puede ir seguida por un curso progresivo de la enfermedad con debilidad y atrofia muscular predominantemente proximal, regresión del desarrollo motor, escoliosis e insuficiencia respiratoria."},"it":{"name":"Distrofia muscolare congenita con deficit di integrina alfa-7","synonyms":["Distrofia muscolare congenita con deficit di ITGA7"],"definition":"La distrofia muscolare congenita con deficit di integrina alfa-7 è una distrofia muscolare congenita rara, di origine genetica, causata da un'anomalia della proteina della matrice extracellulare. È caratterizzata da ritardo precoce dello sviluppo motorio e debolezza muscolare con lieve aumento dei livelli di creatin-chinasi nel siero a cui può seguire una progressione della malattia con prevalente debolezza ed atrofia dei muscoli prossimali, regressione dello sviluppo motorio, scoliosi ed insufficienza respiratoria."},"nl":{"name":"Congenitale spierdystrofie met deficiëntie van integrine alfa-7","synonyms":["Congenitale spierdystrofie met ITGA7-deficiëntie"],"definition":"Congenitale spierdystrofie met integrine alfa-7-deficiëntie is een zeldzame, genetische, congenitale musculaire dystrofie als gevolg van een anomalie van extracellulair matrixproteïne, en wordt gekarakteriseerd door vroege motorische ontwikkelingsachterstand en spierzwakte met milde toename van creatinekinase in het serum, mogelijk gevolgd door een progressief ziekteverloop met zwakheid en atrofie van voornamelijk proximale spieren, regressie van motorische ontwikkeling, scoliose en respiratoire insufficiëntie."},"pt":{"name":"Distrofia muscular congénita com deficiência de integrina alfa-7"},"pl":{"name":"Wrodzona dystrofia mięśniowa z niedoborem integryny alfa-7","synonyms":["Wrodzona dystrofia mięśniowa z niedoborem ITGA7"]},"cs":{"name":"Vrozená svalová dystrofie s deficitem integrinu alfa7","synonyms":["Vrozená svalová dystrofie s deficitem ITGA7"]},"uk":{"name":"Вроджена мязова дистрофія з дефіцитом інтегрину альфа-7","synonyms":["Вроджена мязова дистрофія з дефіцитом ITGA7"],"definition":"Congenital muscular dystrophy with integrin alpha-7 deficiency is a rare, genetic, congenital muscular dystrophy due to extracellular matrix protein anomaly characterized by early motor development delay and muscle weakness with mild elevation of serum creatine kinase, that may be followed by progressive disease course with predominantly proximal muscle weakness and atrophy, motor development regress, scoliosis and respiratory insufficiency."},"zh":{"name":"整合素α7缺乏型先天性肌营养不良","synonyms":["先天性肌营养不良症伴ITGA7缺乏"]},"tr":{"name":"İntegrin alfa-7 eksikliği ile seyreden doğumsal kas distrofisi","synonyms":["ITGA7 eksikliği ile seyreden doğumsal kas distrofisi"]}},"xrefs":[{"source":"OMIM","code":"613204","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G71.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8C70.6","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"535444201"},{"source":"MONDO","code":"0013177","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"13177","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C567709","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2750786","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":97242,"name":"Congenital muscular dystrophy","classifications":[156,181]},{"orpha":207098,"name":"Qualitative or quantitative defects of integrin alpha-7","classifications":[156]}],"children":[],"genes":[{"symbol":"ITGA7","name":"integrin subunit alpha 7","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"9590299[PMID]","hgnc":"6143","ensembl":"ENSG00000135424","omim":"600536","loci":["12q13.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.03,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}