{"orpha":206443,"name":"Late-infantile/juvenile Krabbe disease","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Krabbe disease, late-onset"],"definition":null,"note":"This disease is described under Krabbe disease","url":"https://raremap.alftech.space/d/ORPHA-206443/","orphanet_url":"https://www.orpha.net/en/disease/detail/206443","names":{"fr":{"name":"Maladie de Krabbe infantile tardive/juvénile","synonyms":["Maladie de Krabbe à début tardif"]},"de":{"name":"Krabbe-Syndrom, spät-infantiles oder juveniles","synonyms":["Krabbe-Syndrom, spät beginnendes"]},"es":{"name":"Enfermedad de Krabbe infantil tardía/juvenil","synonyms":["Enfermedad de Krabbe de inicio tardío"]},"it":{"name":"Malattia di Krabbe tardo-infantile/giovanile","synonyms":["Malattia di Krabbe a esordio tardivo"]},"nl":{"name":"Ziekte van Krabbe, laat infantiele/juveniele vorm","synonyms":["Ziekte van Krabbe, late aanvang"]},"pt":{"name":"Doença de Krabbe da infância tardia/juvenil"},"pl":{"name":"Późnodziecięca/młodzieńcza choroba Krabbego","synonyms":["Choroba Krabbego o późnym początku"]},"cs":{"name":"Pozdně infantilní/juvenilní Krabbeho choroba","synonyms":["Krabbeho choroba s pozdním nástupem"]},"uk":{"name":"Пізня інфантильна/ювенільна хвороба Краббе","synonyms":["Хвороба Краббе, пізній початок"]},"zh":{"name":"晚期婴儿/青少年Krabbe病","synonyms":["迟发型Krabbe"]},"tr":{"name":"Geç infantil/jüvenil Krabbe hastalığı","synonyms":["Krabbe hastalığı, geç başlangıçlı"]}},"xrefs":[{"source":"OMIM","code":"245200","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E75.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8A44.4","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"711683611"},{"source":"MONDO","code":"0016090","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0268252","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":487,"name":"Krabbe disease","classifications":[150,156,181,189,233]}],"children":[],"genes":[{"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"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Childhood","Infancy"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-03-22","source":"20301416[PMID]_24384330[PMID]","terms":[{"hpo":"HP:0002922","label":"Increased CSF protein concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0034322","label":"Reduced galactocerebrosidase activity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011400","label":"Abnormal CNS myelination","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000649","label":"Abnormality of visual evoked potentials","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002312","label":"Clumsiness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000762","label":"Decreased nerve conduction velocity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002376","label":"Developmental regression","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010846","label":"EEG with persistent abnormal rhythmic activity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000565","label":"Esotropia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002359","label":"Frequent falls","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004302","label":"Functional motor deficit","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002505","label":"Loss of ambulation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002371","label":"Loss of speech","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002061","label":"Lower limb spasticity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001268","label":"Mental deterioration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009830","label":"Peripheral neuropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004466","label":"Prolonged brainstem auditory evoked potentials","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007141","label":"Sensorimotor neuropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001264","label":"Spastic diplegia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002313","label":"Spastic paraparesis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002493","label":"Upper motor neuron dysfunction","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000572","label":"Visual loss","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031006","label":"Acroparesthesia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007018","label":"Attention deficit hyperactivity disorder","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008936","label":"Axial hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000618","label":"Blindness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000712","label":"Emotional lability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002373","label":"Febrile seizure (within the age range of 3 months to 6 years)","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002301","label":"Hemiplegia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010830","label":"Impaired tactile sensation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002068","label":"Neuromuscular dysphagia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001761","label":"Pes cavus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001350","label":"Slurred speech","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002445","label":"Tetraplegia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001337","label":"Tremor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003484","label":"Upper limb muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000737","label":"Irritability","frequency":"Very rare (<4-1%)","criteria":null}]}}