{"orpha":206448,"name":"Adult Krabbe disease","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":"This disease is described under Krabbe disease","url":"https://raremap.alftech.space/d/ORPHA-206448/","orphanet_url":"https://www.orpha.net/en/disease/detail/206448","names":{"fr":{"name":"Maladie de Krabbe de l'adulte"},"de":{"name":"Krabbe-Syndrom, mit Beginn im Erwachsenenalter"},"es":{"name":"Enfermedad de Krabbe del adulto"},"it":{"name":"Malattia di Krabbe a esordio nell'età adulta"},"nl":{"name":"Ziekte van Krabbe, volwassen vorm"},"pt":{"name":"Doença de Krabbe de apresentação no adulto"},"pl":{"name":"Choroba Krabbego dorosłych"},"cs":{"name":"Krabbeho choroba dospělých","synonyms":["Adultní Krabbeho choroba"]},"uk":{"name":"Хвороба Краббе у дорослих"},"zh":{"name":"成年Krabbe病"},"tr":{"name":"Yetişkin Krabbe hastalığı"}},"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":"699668826"},{"source":"MONDO","code":"0016091","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680793","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":98544,"name":"Cerebral lipidosis with dementia","classifications":[156,181]},{"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":["Adult"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-03-22","source":"32965986[PMID]_24384330[PMID]_27638597[PMID]_20301416[PMID]_29951496[PMID]_31337714[PMID]_24384330[PMID]_30899093[PMID]","terms":[{"hpo":"HP:0034322","label":"Reduced galactocerebrosidase activity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002493","label":"Upper motor neuron dysfunction","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001273","label":"Abnormal corpus callosum morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012379","label":"Abnormal enzyme/coenzyme activity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002418","label":"Abnormality of midbrain morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007361","label":"Abnormality of the pons","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003487","label":"Babinski sign","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007305","label":"CNS demyelination","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031993","label":"Hoffmann sign","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006801","label":"Hyperactive deep tendon reflexes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002922","label":"Increased CSF protein concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007199","label":"Progressive spastic paraparesis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003202","label":"Skeletal muscle atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011441","label":"Abnormality of the medulla oblongata","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031006","label":"Acroparesthesia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002312","label":"Clumsiness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000726","label":"Dementia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002353","label":"EEG abnormality","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002359","label":"Frequent falls","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004302","label":"Functional motor deficit","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010830","label":"Impaired tactile sensation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007340","label":"Lower limb muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001268","label":"Mental deterioration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002062","label":"Morphological abnormality of the pyramidal tract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011096","label":"Peripheral demyelination","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009830","label":"Peripheral neuropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002344","label":"Progressive neurologic deterioration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004466","label":"Prolonged brainstem auditory evoked potentials","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007141","label":"Sensorimotor neuropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003474","label":"Somatic sensory dysfunction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003484","label":"Upper limb muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000572","label":"Visual loss","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002136","label":"Broad-based gait","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100639","label":"Erectile dysfunction","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002301","label":"Hemiplegia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002371","label":"Loss of speech","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002492","label":"Morphological abnormality of the corticospinal tract","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001761","label":"Pes cavus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002273","label":"Tetraparesis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000020","label":"Urinary incontinence","frequency":"Very rare (<4-1%)","criteria":null}]}}