{"orpha":845,"name":"Tay-Sachs disease","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Beta-hexosaminidase subunit alpha deficiency","GM2 gangliosidosis, Tay-Sachs variant","GM2 gangliosidosis, hexosaminidase A deficiency variant","HEXA disorder"],"definition":"A rare autosomal recessive lysosomal disease characterized by accumulation of GM2 gangliosides in the nervous system due to hexosaminidase A deficiency as a consequence of biallelic pathogenic variants in the <i>HEXA</i> gene.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-845/","orphanet_url":"https://www.orpha.net/en/disease/detail/845","names":{"fr":{"name":"Maladie de Tay-Sachs","synonyms":["Déficit en sous-unité bêta-hexosaminidase alpha","Gangliosidose à GM2, variant Tay-Sachs","Gangliosidose à GM2, variant déficit en hexosaminidase A"],"definition":"Maladie lysosomale autosomique récessive rare caractérisée par une accumulation de gangliosides GM2 dans le système nerveux due à un déficit en hexosaminidase A résultant de variants pathogènes bialléliques du gène <i>HEXA</i>."},"de":{"name":"Tay-Sachs-Krankheit","synonyms":["Alpha-Untereinheit-Defizienz der Beta-Hexosaminidase","GM2-Gangliosidose, Hexosaminidase-A-Mangel-Varinante","GM2-Gangliosidose, Tay-Sachs-Variante","GM2-Gangliosidose, Varianten B und B1"],"definition":"Eine seltene lysosomale Speicherkrankheit, die durch eine Anhäufung von GM2-Gangliosiden im Nervensystem gekennzeichnet ist, die auf einen Mangel an Hexosaminidase A als Folge biallelischer pathogener Varianten im <i>HEXA</i>-Gen zurückzuführen ist."},"es":{"name":"Enfermedad de Tay-Sachs","synonyms":["Deficiencia de la subunidad alfa de la beta-hexosaminidasa","Gangliosidosis GM2, variante Tay-Sachs","Gangliosidosis GM2, variante deficiencia de hexosaminidasa A","Trastorno HEXA"],"definition":"Es una enfermedad lisosomal autosómica recesiva poco frecuente caracterizada por el acúmulo de gangliósidos GM2 en el sistema nervioso debido a una deficiencia de hexosaminidasa A como consecuencia de variantes patogénicas bialélicas del gen <i>HEXA</i>."},"it":{"name":"Malattia di Tay-Sachs","synonyms":["Deficit di beta-esosaminidasi subunità alfa","GM2-gangliosidosi, variante da deficit di esosaminidasi A","GM2-gangliosidosi, variante di Tay-Sachs","Malattia correlata a HEXA"]},"nl":{"name":"Ziekte van Tay-Sachs","synonyms":["Deficiëntie van alfa-subeenheid van bèta-hexosaminidase","GM2-gangliosidose, Tay-Sachs-variant","GM2-gangliosidose, hexosaminidase A-deficiëntie-variant","HEXA-stoornis"],"definition":"Een zeldzame autosomaal recessieve lysosomale aandoening, gekenmerkt door accumulatie van GM2-gangliosiden in het zenuwstelsel door deficiëntie van hexosaminidase A ten gevolge van biallelische pathogene varianten in het gen <i>HEXA</i>."},"pt":{"name":"Doença Tay-Sachs","synonyms":["Deficiência da subunidade alfa da beta-hexosaminidase","Doença HEXA","Gangliosidose GM2, variante Tay-Sachs","Gangliosidose GM2, variante com deficiência de hexosaminidase A"],"definition":"Doença lisossomal autossómica recessiva rara caracterizada pelo acúmulo de gangliosídeos GM2 no sistema nervoso devido à deficiência de hexosaminidase A como consequência de variantes patogénicas bialélicas no gene HEXA."},"pl":{"name":"Choroba Tay'a i Sachsa","synonyms":["GM2-gangliozydoza,wariant B, B1","Niedobór heksoaminidazy A"]},"cs":{"name":"Tayova-Sachsova nemoc","synonyms":["GM2 gangliosidóza, varianta B","Deficit hexosaminidázy A","Tay-Sachsova nemoc"]},"uk":{"name":"Хвороба Тея-Сакса","synonyms":["Дефіцит альфа-субодиниці бета-гексозамінідази","GM2 гангліозидоз, варіант дефіциту гексозамінідази А","GM2 гангліозидоз, варіант Тея-Сакса","HEXA розлад"],"definition":"A rare autosomal recessive lysosomal disease characterized by accumulation of GM2 gangliosides in the nervous system due to hexosaminidase A deficiency as a consequence of biallelic pathogenic variants in the <i>HEXA</i> gene."},"zh":{"name":"Tay-Sachs病","synonyms":["GM2神经节苷质病，B，B1变型"]},"tr":{"name":"Tay-Sachs hastalığı","synonyms":["Hekzosaminidaz A eksikliği","GM2 gangliosidoz, B, B1 varyantı"]}},"xrefs":[{"source":"OMIM","code":"272800","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E75.0","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"5C56.00","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"215008783"},{"source":"MONDO","code":"0010100","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D013661","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0039373","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7737","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10043147","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":309239,"name":"OBSOLETE: Tay-Sachs disease, B1 variant","status":"inactive"}],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":98544,"name":"Cerebral lipidosis with dementia","classifications":[156,181]},{"orpha":309152,"name":"GM2 gangliosidosis","classifications":[150,156,181,233]},{"orpha":716405,"name":"Rare disorder with progressive generalized retinal disorder as a major feature","classifications":[156,189]},{"orpha":207018,"name":"Rare hereditary metabolic disease with peripheral neuropathy","classifications":[156,181]}],"children":[{"orpha":309192,"name":"Tay-Sachs disease, adult form","type":"Clinical subtype"},{"orpha":309178,"name":"Tay-Sachs disease, infantile form","type":"Clinical subtype"},{"orpha":309185,"name":"Tay-Sachs disease, juvenile form","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"HEXA","name":"hexosaminidase subunit alpha","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"4878","ensembl":"ENSG00000213614","omim":"606869","loci":["15q23"],"via":{"orpha":309178,"name":"Tay-Sachs disease, infantile form"}},{"symbol":"HEXA","name":"hexosaminidase subunit alpha","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"4878","ensembl":"ENSG00000213614","omim":"606869","loci":["15q23"],"via":{"orpha":309185,"name":"Tay-Sachs disease, juvenile form"}},{"symbol":"HEXA","name":"hexosaminidase subunit alpha","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"4878","ensembl":"ENSG00000213614","omim":"606869","loci":["15q23"],"via":{"orpha":309192,"name":"Tay-Sachs disease, adult form"}}],"inheritance":["Autosomal recessive"],"onset":["All ages"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":27.8,"area":"Specific population","status":"Validated","source":"20301397[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.5,"area":"Specific population","status":"Not yet validated","source":"ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.31,"area":"Europe","status":"Validated","source":"ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":3.13,"area":"Portugal","status":"Validated","source":"14685153[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.3,"area":"Czech Republic","status":"Validated","source":"20490927[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.5,"area":"Australia","status":"Validated","source":"9918480[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.28,"area":"Worldwide","status":"Validated","source":"ISBN:0870684507[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.41,"area":"Netherlands","status":"Validated","source":"10480370[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.29,"area":"Canada","status":"Validated","source":"10617747[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.74,"area":"United Arab Emirates","status":"Validated","source":"23430803[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.23,"area":"Turkey","status":"Validated","source":"15275696[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.48,"area":"Sweden","status":"Validated","source":"25274184[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Europe","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":"2021-04-09","source":"20301397[PMID]_30038128[PMID]_29943104[PMID]","terms":[{"hpo":"HP:0012379","label":"Abnormal enzyme/coenzyme activity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010969","label":"Abnormality of glycolipid metabolism","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0003495","label":"GM2-ganglioside accumulation","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002191","label":"Progressive spasticity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003202","label":"Skeletal muscle atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012696","label":"Abnormal thalamic MRI signal intensity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011951","label":"Aspiration pneumonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010729","label":"Cherry red spot of the macula","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002312","label":"Clumsiness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002376","label":"Developmental regression","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003551","label":"Difficulty climbing stairs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002460","label":"Distal muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002380","label":"Fasciculations","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002359","label":"Frequent falls","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002171","label":"Gliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007103","label":"Hypointensity of cerebral white matter on MRI","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002311","label":"Incoordination","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007340","label":"Lower limb muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003394","label":"Muscle spasm","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007010","label":"Poor fine motor coordination","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002172","label":"Postural instability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009050","label":"Quadriceps muscle atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000736","label":"Short attention span","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000496","label":"Abnormality of eye movement","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001344","label":"Absent speech","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011448","label":"Ankle clonus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000739","label":"Anxiety","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000618","label":"Blindness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001272","label":"Cerebellar atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000716","label":"Depression","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008959","label":"Distal upper limb muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002307","label":"Drooling","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001310","label":"Dysmetria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001332","label":"Dystonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002267","label":"Exaggerated startle response","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002384","label":"Focal impaired awareness seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004302","label":"Functional motor deficit","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011471","label":"Gastrostomy tube feeding in infancy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001290","label":"Generalized hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002283","label":"Global brain atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012515","label":"Hip flexor weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002540","label":"Inability to walk","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012049","label":"Laryngeal dystonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001377","label":"Limited elbow extension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003066","label":"Limited knee extension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100754","label":"Mania","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002354","label":"Memory impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001336","label":"Myoclonus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004481","label":"Progressive macrocephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000709","label":"Psychosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009088","label":"Speech articulation difficulties","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001337","label":"Tremor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011147","label":"Typical absence seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025013","label":"Decerebrate rigidity","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003333","label":"Increased serum beta-hexosaminidase","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000826","label":"Precocious puberty","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0031358","label":"Vegetative state","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001433","label":"Hepatosplenomegaly","frequency":"Excluded (0%)","criteria":null}]}}