{"orpha":487,"name":"Krabbe disease","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["GALC deficiency","Galactocerebrosidase deficiency","Galactosylceramidase deficiency","Globoid cell leukodystrophy"],"definition":"A rare lysosomal disorder that affects the white matter of the central and peripheral nervous systems characterized by neurodegeneration with severity depending on the age of onset (infantile, late-infantile, juvenile, adolescent and adulthood).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-487/","orphanet_url":"https://www.orpha.net/en/disease/detail/487","names":{"fr":{"name":"Maladie de Krabbe","synonyms":["Déficit en GALC","Déficit en galactocérébrosidase","Déficit en galactosylcéramidase","Leucodystrophie à cellules globoïdes"],"definition":"Maladie lysosomale rare qui affecte la substance blanche des systèmes nerveux central et périphérique, caractérisée par une neurodégénérescence dont la sévérité dépend de l'âge d'apparition (infantile, infantile tardive, juvénile, adolescente et adulte)."},"de":{"name":"Krabbe-Syndrom","synonyms":["Galaktosylzeramidase-Mangel","Galaktozerebrosidase-Mangel","Globoidzell-Leukodystrophie","Krabbe-Krankheit"],"definition":"Eine seltene lysosomale Störung, die die weiße Substanz des zentralen und peripheren Nervensystems betrifft. Sie ist durch eine Neurodegeneration gekennzeichnet, deren Schweregrad vom Alter des Auftretens abhängt (Säuglingsalter, spätes Kleinkindalter, Jugendalter, Jugendalter und Erwachsenenalter)."},"es":{"name":"Enfermedad de Krabbe","synonyms":["Deficiencia de GALC","Deficiencia de galactocerebrosidasa","Deficiencia de galactosilceramidasa","Leucodistrofia de células caliciformes"],"definition":"Es un trastorno lisosomal poco frecuente que afecta a la sustancia blanca del sistema nervioso central y periférico y que se caracteriza por neurodegeneración cuya gravedad depende de la edad de aparición (lactancia, lactancia tardía, infantil, adolescencia y edad adulta)."},"it":{"name":"Malattia di Krabbe","synonyms":["Deficit di GALC","Deficit di galattocerebrosidasi","Deficit di galattosilceramidasi","Leucodistrofia a cellule globoidi"],"definition":"Si tratta di una malattia lisosomiale rara che interessa la sostanza bianca del sistema nervoso centrale e periferico, caratterizzata da neurodegenerazione la cui gravità correla con l'età d'esordio (infantile, tardo-infantile, giovanile, nell'adolescenza e nell'età adulta)."},"nl":{"name":"Ziekte van Krabbe","synonyms":["GALC-deficiëntie","Galactocerebrosidasedeficiëntie","Galactosylceramidasedeficiëntie","Globoïde cel leukodystrofie"],"definition":"Een zeldzame lysosomale aandoening die witte stof van centraal en perifeer zenuwstelsel aantast, gekenmerkt door neurodegeneratie waarvan de ernst afhangt van de aanvangsleeftijd (infantiel, laat infantiel, juveniel, adolescentie, en volwassenheid)."},"pt":{"name":"Doença de Krabbe","synonyms":["Leucodistrofia de células globóides","Deficiência de galactocerebrosidase"]},"pl":{"name":"Choroba Krabbego","synonyms":["Leukodystrofia globoidalna","Niedobór galaktocerebrydazy","Niedobór galaktozyloceramidazy","Niedobór GALC"],"definition":"Rzadkie schorzenie lizosomalne, które dotyczy istoty białej ośrodkowego i obwodowego układu nerwowego. Charakteryzuje się neurodegeneracją o nasileniu zależnym od wieku zachorowania (okres niemowlęcy, późny okres niemowlęcy, okres dzieciństwa, dorastania, dorosłości)."},"cs":{"name":"Krabbeho nemoc","synonyms":["Deficit GALC","Deficit galaktocerebrosidázy","Deficit galaktosylceramidázy","Globoidní leukodystrofie"]},"uk":{"name":"Хвороба Краббе","synonyms":["Дефіцит галактоцереброзидази","Дефіцит галактозилцерамідази","Дефіцит GALC","Глобоїдно-клітинна лейкодистрофія"],"definition":"A rare lysosomal disorder that affects the white matter of the central and peripheral nervous systems characterized by neurodegeneration with severity depending on the age of onset (infantile, late-infantile, juvenile, adolescent and adulthood)."},"zh":{"name":"Krabbe病","synonyms":["半乳糖神经酰胺酶"]},"tr":{"name":"Krabbe hastalığı","synonyms":["GALC eksikliği","Globoid hücre lökodistrofisi","Galaktoserebrosidaz eksikliği","Galaktozilseramidaz eksikliği"]}},"xrefs":[{"source":"OMIM","code":"245200","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"611722","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E75.2","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"8A44.4","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"796317173"},{"source":"MONDO","code":"0009499","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D007965","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0023521","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6844","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10023492","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":183500,"name":"Genetic neurodegenerative disease","classifications":[156]},{"orpha":68356,"name":"Leukodystrophy","classifications":[156,181]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]},{"orpha":182070,"name":"Rare neurodegenerative disease","classifications":[181]},{"orpha":79225,"name":"Sphingolipidosis","classifications":[150,156,233]},{"orpha":371442,"name":"Sphingolipidosis with epilepsy","classifications":[156,181]},{"orpha":441434,"name":"Syndromic hereditary optic neuropathy","classifications":[156,189]}],"children":[{"orpha":206448,"name":"Adult Krabbe disease","type":"Clinical subtype"},{"orpha":206436,"name":"Infantile Krabbe disease","type":"Clinical subtype"},{"orpha":206443,"name":"Late-infantile/juvenile Krabbe disease","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"GALC","name":"galactosylceramidase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301416[PMID]_23319190[PMID]","hgnc":"4115","ensembl":"ENSG00000054983","omim":"606890","loci":["14q31.3"],"via":{"orpha":206436,"name":"Infantile Krabbe disease"}},{"symbol":"GALC","name":"galactosylceramidase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301416[PMID]_23319190[PMID]","hgnc":"4115","ensembl":"ENSG00000054983","omim":"606890","loci":["14q31.3"],"via":{"orpha":206443,"name":"Late-infantile/juvenile Krabbe disease"}},{"symbol":"GALC","name":"galactosylceramidase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301416[PMID]_23319190[PMID]","hgnc":"4115","ensembl":"ENSG00000054983","omim":"606890","loci":["14q31.3"],"via":{"orpha":206448,"name":"Adult Krabbe disease"}},{"symbol":"PSAP","name":"prosaposin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"15773042[PMID]_20301416[PMID]","hgnc":"9498","ensembl":"ENSG00000197746","omim":"176801","loci":["10q22.1"],"via":{"orpha":206436,"name":"Infantile Krabbe disease"}}],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Adult","Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.327,"area":"United States","status":"Validated","source":"22991292[PMID]_26795590[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.0,"area":"Europe","status":"Validated","source":"[EXPERT]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.7,"area":"Worldwide","status":"Validated","source":"[EXPERT]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.0,"area":"Europe","status":"Not yet validated","source":"20301416[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.7,"area":"France","status":"Validated","source":"[EXPERT]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.71,"area":"Australia","status":"Validated","source":"9918480[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.35,"area":"Netherlands","status":"Validated","source":"10480370[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.21,"area":"Portugal","status":"Validated","source":"14685153[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.6,"area":"Germany","status":"Validated","source":"9286459[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.0,"area":"Turkey","status":"Validated","source":"20490927[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.4,"area":"Czech Republic","status":"Validated","source":"20490927[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.9,"area":"Sweden","status":"Validated","source":"5409293[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-03-22","source":"24384330[PMID]_28674989[PMID]_27638597[PMID]_20301416[PMID]","terms":[{"hpo":"HP:0001172","label":"Abnormal thumb morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001939","label":"Abnormality of metabolism/homeostasis","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:0001251","label":"Ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002676","label":"Cloverleaf skull","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003457","label":"EMG abnormality","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","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:0009830","label":"Peripheral neuropathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0034322","label":"Reduced galactocerebrosidase activity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000763","label":"Sensory neuropathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003134","label":"Abnormality of peripheral nerve conduction","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:0001945","label":"Fever","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002123","label":"Generalized myoclonic seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004374","label":"Hemiplegia/hemiparesis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0033031","label":"Hyperpyrexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000737","label":"Irritability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002205","label":"Recurrent respiratory infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002313","label":"Spastic paraparesis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002013","label":"Vomiting","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000618","label":"Blindness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002312","label":"Clumsiness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025013","label":"Decerebrate rigidity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100639","label":"Erectile dysfunction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002359","label":"Frequent falls","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001188","label":"Hand clenching","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100963","label":"Hyperesthesia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001265","label":"Hyporeflexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002922","label":"Increased CSF protein concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001336","label":"Myoclonus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002179","label":"Opisthotonus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001761","label":"Pes cavus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002421","label":"Poor head control","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002878","label":"Respiratory failure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030211","label":"Slow pupillary light response","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002445","label":"Tetraplegia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000020","label":"Urinary incontinence","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Occasional (29-5%)","criteria":null}]}}