{"orpha":521450,"name":"LAMA5-related multisystemic syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare genetic systemic or rheumatologic disease characterized by infantile onset of skin anomalies (such as delayed wound healing with atrophic scars and mild alopecia with dry and brittle hair), retinal rod degeneration with night blindness, degenerative myopathy with muscle weakness, myalgia, and cramps, osteoarthritis, joint laxity, prolapse of internal organs, floating kidney syndrome, malabsorption syndrome, and hypothyroidism. The phenotype has been reported to be more severe in women than in men.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-521450/","orphanet_url":"https://www.orpha.net/en/disease/detail/521450","names":{"fr":{"name":"Syndrome multisystémique lié à LAMA5","definition":"Maladie systémique ou rhumatologique rare caractérisée par l'apparition infantile d'anomalies cutanées (telles qu'un retard de cicatrisation avec des cicatrices atrophiques, une légère alopécie et des cheveux secs et cassants), une dégénérescence des bâtonnets de la rétine avec cécité nocturne, une myopathie dégénérative avec faiblesse musculaire, myalgies et crampes, de l'ostéoarthrite, une laxité articulaire, un prolapsus des organes internes, une néphroptose, un syndrome de malabsorption et une hypothyroïdie. Le phénotype a été rapporté comme étant plus sévère chez les femmes que chez les hommes."},"de":{"name":"LAMA5-assoziiertes multisystemisches Syndrom","definition":"Eine seltene genetisch bedingte systemische oder rheumatologische Erkrankung, die durch im Kindesalter auftretende Hautanomalien (wie verzögerte Wundheilung mit atrophischen Narben und leichter Alopezie mit trockenem und brüchigem Haar), Netzhautstäbchendegeneration mit Nachtblindheit, degenerative Myopathie mit Muskelschwäche, Myalgien und Krämpfen, Osteoarthritis, Gelenklaxität, Prolaps der inneren Organe, Nephroptose, Malabsorptionssyndrom und Hypothyreose gekennzeichnet ist. Es wurde berichtet, dass der Phänotyp bei Frauen schwerer ist als bei Männern."},"es":{"name":"Síndrome multisistémico asociado a LAMA5","definition":"Es una enfermedad multisistémica genética poco frecuente caracterizada por la aparición en el periodo de lactancia de anomalías cutáneas (como retraso en la cicatrización de heridas con cicatrices atróficas y alopecia moderada con cabello seco y quebradizo), degeneración de los bastones retinianos con ceguera nocturna, miopatía degenerativa con debilidad muscular, mialgia y calambres, osteoartritis, laxitud articular, prolapso de órganos internos, síndrome del riñón flotante, malabsorción e hipotiroidismo. Se ha descrito un fenotipo más grave en mujeres que en hombres."},"it":{"name":"Malattia multisistemica correlata a LAMA5","definition":"Si tratta di una malattia sistemica o reumatica genetica rara, caratterizzata da anomalie cutanee ad esordio infantile (ritardo della cicatrizzazione con formazione di cicatrici atrofiche ed alopecia lieve con capelli secchi e fragili), degenerazione dei bastoncelli della retina associata a cecità notturna, miopatia degenerativa con debolezza muscolare, mialgia e crampi, osteoartrite, lassità articolare, prolasso degli organi interni, nefroptosi, sindrome da malassorbimento e ipotiroidismo. Le femmine presentano un quadro clinico più grave."},"nl":{"name":"LAMA5-gerelateerd multisystemisch syndroom","definition":"Een zeldzame, genetische systemische of reumatologische aandoening, gekarakteriseerd door infantiele aanvang van huidanomalieën (zoals vertraagde wondgenezing met atrofische littekens en milde alopecie met droog en broos haar), degeneratie van retinale staafjes met nachtblindheid, degeneratieve myopathie met spierzwakte, myalgie, krampen, osteoartritis, gewrichtslaxiteit, prolaps van inwendige organen, syndroom van wandelende nier (nefroptose), malabsorptiesyndroom, en hypothyreoïdie. Er werd gerapporteerd dat het fenotype ernstiger is bij vrouwen dan bij mannen."},"pt":{"name":"Síndrome multissistémico LAMA5-relacionado"},"pl":{"name":"Zespół wieloukładowy związany z LAMA5"},"cs":{"name":"LAMA5-vázaný multisystémový syndrom"},"uk":{"name":"Мультисистемний синдром, повязаний з LAMA5","definition":"A rare genetic systemic or rheumatologic disease characterized by infantile onset of skin anomalies (such as delayed wound healing with atrophic scars and mild alopecia with dry and brittle hair), retinal rod degeneration with night blindness, degenerative myopathy with muscle weakness, myalgia, and cramps, osteoarthritis, joint laxity, prolapse of internal organs, floating kidney syndrome, malabsorption syndrome, and hypothyroidism. The phenotype has been reported to be more severe in women than in men."},"zh":{"name":"LAMA5基因相关的多系统综合征","definition":"一种罕见的遗传性全身性或风湿病，其特征是婴儿期开始出现皮肤异常（如伤口愈合延迟并伴有萎缩性疤痕，轻度脱发并伴有脆发），视网膜杆状变性并有伴夜盲症，退行性肌病并伴有肌无力、肌痛和痉挛、骨关节炎、关节松弛、内脏器官脱垂、游走肾综合征、吸收不良综合征和甲状腺功能减退。据报道，女性的表型比男性更严重。"},"tr":{"name":"LAMA5-ilişkili multisistemik sendrom"}},"xrefs":[{"source":"ICD-10","code":"M79.8","qualifier":"NTBT","icd_relation":"attributed","validated":false},{"source":"ICD-11","code":"FB56.6","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0033856","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681442","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98023,"name":"Rare systemic or rheumatologic disease"},"parents":[{"orpha":271870,"name":"Rare genetic systemic or rheumatologic disease","classifications":[156]},{"orpha":182222,"name":"Rare systemic disease","classifications":[196]}],"children":[],"genes":[{"symbol":"LAMA5","name":"laminin subunit alpha 5","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"28735299[PMID]","hgnc":"6485","ensembl":"ENSG00000130702","omim":"601033","loci":["20q13.33"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":11.0,"area":"Worldwide","status":"Validated","source":"28735299[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_28735299[PMID]"}],"phenotypes":null}