{"orpha":354,"name":"GM1 gangliosidosis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Beta-galactosidase-1 deficiency","GLB1 deficiency","Landing disease"],"definition":"GM1 gangliosidosis is a rare lysosomal storage disorder characterized biochemically by deficient beta-galactosidase activity and clinically by a wide range of variable neurovisceral, ophthalmological and dysmorphic features.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-354/","orphanet_url":"https://www.orpha.net/en/disease/detail/354","names":{"fr":{"name":"Gangliosidose à GM1","synonyms":["Déficit en GLB1","Déficit en bêta-galactosidase-1","Maladie de Landing"],"definition":"La gangliosidose à GM1 est une maladie de surcharge lysosomale caractérisée par une déficience de la ß-galactosidase du point de vue biochimique, et par un large spectre de traits neuro-viscéraux, ophtalmologiques et dysmorphiques du point de vue clinique."},"de":{"name":"GM1-Gangliosidose","synonyms":["Beta-Galaktosidase 1-Mangel","GLB1-Mangel","Landing-Krankheit"],"definition":"Die GM1-Gangliosidose ist eine seltene lysosomale Speicherkrankheit. Sie ist biochemisch gekennzeichnet durch einen Beta-Galaktosidase -Mangel und klinisch durch einen weiten Bereich unterschiedlicher neuro-viszeraler, ophthalmologischer und dysmorpher Symptome und Zeichen."},"es":{"name":"Gangliosidosis GM1","synonyms":["Deficiencia de GLB1","Deficiencia de beta-galactosidasa-1","Enfermedad de Landing"],"definition":"La gangliosidosis GM1 es un trastorno por almacenamiento lisosomal poco común caracterizado bioquímicamente por una actividad deficiente de la beta-galactosidasa y clínicamente por una amplia gama de rasgos neuroviscerales, oftalmológicos y dismórficos variables."},"it":{"name":"Gangliosidosi GM1","synonyms":["Deficit di GLB1","Deficit di beta-galattosidasi-1","Malattia di Landing"],"definition":"La gangliosidosi GM1 è una rara malattia da deposito lisosomiale caratterizzata, dal punto di vista biochimico, da riduzione dell'attività della beta-galattosidasi e, dal punto di vista clinico, da un'ampia gamma di segni neuroviscerali, oculari e da dismorfismi."},"nl":{"name":"GM1-gangliosidose","synonyms":["Bèta-galactosidase-1-deficiëntie","GLB1-deficiëntie","Ziekte van Landing"],"definition":"GM1-gangliosidose is een zeldzame lysosomale stapelingsziekte, biochemisch gekarakteriseerd door onvoldoende bèta-galactosidaseactiviteit en klinisch door diverse variabele neuroviscerale, oogheelkundige en dysmorfe kenmerken."},"pt":{"name":"Gangliosidose GM1","synonyms":["Deficiência de beta-galactosidase","Doença de Landing"],"definition":"A gangliosidose GM1 é uma doença rara de acumulação lisossomal caracterizada bioquimicamente pela deficiente atividade da beta-galactosidase e clinicamente por uma ampla gama de características neuroviscerais, oftalmológicas e dismórficas variáveis."},"pl":{"name":"Gangliozydoza GM1","synonyms":["Choroba Landinga","Niedobór beta-galaktozydazy-1","Niedobór GLB1"]},"cs":{"name":"GM1 gangliosidóza","synonyms":["Deficit beta-galaktosidázy 1","Deficit GLB1","Landingova nemoc"]},"uk":{"name":"GM1 гангліозидоз","synonyms":["Дефіцит бета-галактозидази-1","Дефіцит GLB1","Хвороба Лендінга"],"definition":"GM1 gangliosidosis is a rare lysosomal storage disorder characterized biochemically by deficient beta-galactosidase activity and clinically by a wide range of variable neurovisceral, ophthalmological and dysmorphic features."},"zh":{"name":"GM1神经节苷脂贮积症","synonyms":["β-半乳糖苷酶-1缺乏症"]},"tr":{"name":"GM1 gangliosidoz","synonyms":["GLB1 eksikliği","Landing hastalığı","Beta-galaktosidaz-1 eksikliği"]}},"xrefs":[{"source":"OMIM","code":"230500","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"230600","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"230650","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E75.1","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"5C56.00","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"401105928"},{"source":"MONDO","code":"0018149","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D016537","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0085131","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10891","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":309144,"name":"Gangliosidosis","classifications":[150,156,181,233]},{"orpha":93448,"name":"Lysosomal storage disease with skeletal involvement","classifications":[156,199]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[{"orpha":79255,"name":"GM1 gangliosidosis type 1","type":"Clinical subtype"},{"orpha":79256,"name":"GM1 gangliosidosis type 2","type":"Clinical subtype"},{"orpha":79257,"name":"GM1 gangliosidosis type 3","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"GLB1","name":"galactosidase beta 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24156116[PMID]","hgnc":"4298","ensembl":"ENSG00000170266","omim":"611458","loci":["3p22.3"],"via":{"orpha":79255,"name":"GM1 gangliosidosis type 1"}},{"symbol":"GLB1","name":"galactosidase beta 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24156116[PMID]","hgnc":"4298","ensembl":"ENSG00000170266","omim":"611458","loci":["3p22.3"],"via":{"orpha":79256,"name":"GM1 gangliosidosis type 2"}},{"symbol":"GLB1","name":"galactosidase beta 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24156116[PMID]","hgnc":"4298","ensembl":"ENSG00000170266","omim":"611458","loci":["3p22.3"],"via":{"orpha":79257,"name":"GM1 gangliosidosis type 3"}}],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.75,"area":"Europe","status":"Validated","source":"ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":27.0,"area":"Malta","status":"Validated","source":"9323577[PMID]_[EXPERT]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":5.9,"area":"Brazil","status":"Validated","source":"10517258[PMID]_[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.34,"area":"Sweden","status":"Validated","source":"25274184[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-04-06","source":"24156116[PMID]_30187681[PMID]","terms":[{"hpo":"HP:0000940","label":"Abnormal diaphysis morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000944","label":"Abnormal metaphysis morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005930","label":"Abnormality of epiphysis morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004345","label":"Abnormality of ganglioside metabolism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010318","label":"Aplasia/Hypoplasia of the abdominal wall musculature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002829","label":"Arthralgia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0410263","label":"Brain imaging abnormality","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000280","label":"Coarse facial features","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008166","label":"Decreased beta-galactosidase activity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000457","label":"Depressed nasal ridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002383","label":"Infectious encephalitis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002011","label":"Morphological central nervous system abnormality","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100670","label":"Rough bone trabeculation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002500","label":"Abnormal cerebral white matter morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003312","label":"Abnormal form of the vertebral bodies","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001627","label":"Abnormal heart morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002071","label":"Abnormality of extrapyramidal motor function","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100022","label":"Abnormality of movement","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002167","label":"Abnormality of speech or vocalization","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000924","label":"Abnormality of the skeletal system","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000951","label":"Abnormality of the skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100490","label":"Camptodactyly of finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002376","label":"Developmental regression","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007325","label":"Generalized dystonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002230","label":"Generalized hirsutism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000212","label":"Gingival overgrowth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001433","label":"Hepatosplenomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003307","label":"Hyperlordosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000023","label":"Inguinal hernia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001387","label":"Joint stiffness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000158","label":"Macroglossia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000303","label":"Mandibular prognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002652","label":"Skeletal dysplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001072","label":"Thickened skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001337","label":"Tremor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002317","label":"Unsteady gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008046","label":"Abnormal retinal vascular morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000045","label":"Abnormality of the scrotum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025190","label":"Bilateral tonic-clonic seizure with generalized onset","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000618","label":"Blindness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000455","label":"Broad nasal tip","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001638","label":"Cardiomyopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010729","label":"Cherry red spot of the macula","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001635","label":"Congestive heart failure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007957","label":"Corneal opacity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000943","label":"Dysostosis multiplex","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001332","label":"Dystonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001543","label":"Gastroschisis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001290","label":"Generalized hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001007","label":"Hirsutism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001789","label":"Hydrops fetalis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009826","label":"Limb undergrowth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000400","label":"Macrotia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011369","label":"Mongolian blue spot","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000160","label":"Narrow mouth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012523","label":"Oral aversion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000926","label":"Platyspondyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001622","label":"Premature birth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002205","label":"Recurrent respiratory infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0500049","label":"Retinopathy of prematurity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011951","label":"Aspiration pneumonia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0025013","label":"Decerebrate rigidity","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0040197","label":"Encephalomalacia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0011471","label":"Gastrostomy tube feeding in infancy","frequency":"Very rare (<4-1%)","criteria":null}]}}