{"orpha":79255,"name":"GM1 gangliosidosis type 1","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Infantile GM1 gangliosidosis","Norman-Landing disease"],"definition":"GM1 gangliosidosis type 1 is the severe infantile form of GM1 gangliosidosis with variable neurological and systemic manifestations.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79255/","orphanet_url":"https://www.orpha.net/en/disease/detail/79255","names":{"fr":{"name":"Gangliosidose à GM1 type 1","synonyms":["Gangliosidose à GM1 infantile","Maladie de Norman-Landing"],"definition":"La gangliosidose à GM1 type 1 est la forme infantile sévère de la gangliosidose GM1 avec des manifestations neurologiques et systémiques variables."},"de":{"name":"GM1-Gangliosidose Typ 1","synonyms":["GM1-Gangliosidose, infantile","Norman-Landing-Krankheit"],"definition":"Die GM1-Gangliosidose Typ 1 ist die schwere infantile Form der GM1-Gangliosidose (s. dort) und durch unterschiedliche neurologische und systemische Symptome gekennzeichnet."},"es":{"name":"Gangliosidosis GM1 tipo 1","synonyms":["Enfermedad de Norman-Landing","Gangliosidosis GM1 del lactante"],"definition":"La gangliosidosis GM1 tipo 1 es una forma infantil grave de gangliosidosis GM1 (consulte este término) con manifestaciones neurológicas y sistémicas variables."},"it":{"name":"Gangliosidosi GM1, tipo 1","synonyms":["Gangliosidosi GM1 infantile","Malattia di Norman-Landing"],"definition":"La gangliosidosi GM1 tipo 1 è la forma infantile grave della gangliosidosi GM1 (si veda questo termine) con segni neurologici e sistemici variabili."},"nl":{"name":"GM1-gangliosidose type 1","synonyms":["Infantiele GM1-gangliosidose","Ziekte van Norman-Landing"],"definition":"GM1-gangliosidose type 1 is de ernstige infantiele vorm van GM1-gangliosidose (zie deze term) met variabele neurologische en systemische manifestaties."},"pt":{"name":"Gangliosidose GM1 tipo 1","definition":"A gangliosidose GM1 tipo 1 é a forma infantil grave de gangliosidose GM1 (ver este termo) com manifestações neurológicas e sistémicas variáveis."},"pl":{"name":"GM1 gangliozydoza typu 1","synonyms":["Choroba Normana i Landinga","GM1 gangliozydoza dziecięca"]},"cs":{"name":"GM1 gangliosidóza, typ 1","synonyms":["Infantilní GM1 gangliosidóza","Normanova-Landingova nemoc","Norman-Landingova nemoc"]},"uk":{"name":"GM1 гангліозидоз, тип 1","synonyms":["Інфантильний GM1 гангліозидоз","Хвороба Нормана-Лендінга"],"definition":"GM1 gangliosidosis type 1 is the severe infantile form of GM1 gangliosidosis (see this term) with variable neurological and systemic manifestations."},"zh":{"name":"GM1神经节苷脂贮积病1型","synonyms":["婴儿型GM1神经节苷脂沉积病"]},"tr":{"name":"GM1 gangliosidoz tip 1","synonyms":["Norman-Landing hastalığı","İnfantil GM1 gangliosidoz"]}},"xrefs":[{"source":"OMIM","code":"230500","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E75.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C56.00","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"466200180"},{"source":"MONDO","code":"0009260","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0268271","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6479","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":354,"name":"GM1 gangliosidosis","classifications":[150,156,181,199,233]},{"orpha":519341,"name":"Rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature","classifications":[189]},{"orpha":716405,"name":"Rare disorder with progressive generalized retinal disorder as a major feature","classifications":[156,189]},{"orpha":522506,"name":"Rare genetic brainstem or cerebellar disorder with ophthalmic involvement as a major feature","classifications":[156]}],"children":[],"genes":[{"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"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":200.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-02-02","source":"31937438[PMID]_24156116[PMID]","terms":[{"hpo":"HP:0008166","label":"Decreased beta-galactosidase activity","frequency":"Obligate (100%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000707","label":"Abnormality of the nervous system","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000924","label":"Abnormality of the skeletal system","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000618","label":"Blindness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002376","label":"Developmental regression","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008947","label":"Floppy infant","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001433","label":"Hepatosplenomegaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0410346","label":"Increased urinary galactosylated oligosaccharide","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003541","label":"Urinary glycosaminoglycan excretion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011951","label":"Aspiration pneumonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001638","label":"Cardiomyopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010729","label":"Cherry red spot of the macula","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002506","label":"Diffuse cerebral atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007204","label":"Diffuse white matter abnormalities","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000943","label":"Dysostosis multiplex","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002267","label":"Exaggerated startle response","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:0012753","label":"T2 hypointense basal ganglia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:3000050","label":"Abnormality of odontoid tissue","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100767","label":"Abnormality of the placenta","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008807","label":"Acetabular dysplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004562","label":"Beaking of vertebral bodies T12-L3","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006371","label":"Broad long bone diaphyses","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001230","label":"Broad metacarpals","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000455","label":"Broad nasal tip","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025013","label":"Decerebrate rigidity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002869","label":"Flared iliac wings","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008812","label":"Flattened femoral head","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000212","label":"Gingival overgrowth","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:0008479","label":"Hypoplastic vertebral bodies","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002690","label":"Large sella turcica","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:0000158","label":"Macroglossia","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:0000768","label":"Pectus carinatum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000926","label":"Platyspondyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003026","label":"Short long bone","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012307","label":"Spatulate ribs","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002684","label":"Thickened calvaria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001072","label":"Thickened skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Very rare (<4-1%)","criteria":null}]}}