{"orpha":206436,"name":"Infantile Krabbe disease","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Krabbe disease, classic form","Krabbe disease, early-onset"],"definition":null,"note":"This disease is described under Krabbe disease","url":"https://raremap.alftech.space/d/ORPHA-206436/","orphanet_url":"https://www.orpha.net/en/disease/detail/206436","names":{"fr":{"name":"Maladie de Krabbe infantile","synonyms":["Maladie de Krabbe classique","Maladie de Krabbe à début précoce"]},"de":{"name":"Krabbe-Syndrom, infantile Form","synonyms":["Krabbe-Syndrom, früh beginnendes","Krabbe-Syndrom, klassische Form"]},"es":{"name":"Enfermedad de Krabbe infantil","synonyms":["Enfermedad de Krabbe clásica","Enfermedad de Krabbe de inicio precoz"]},"it":{"name":"Malattia di Krabbe, forma infantile","synonyms":["Malattia di Krabbe a esordio precoce","Malattia di Krabbe, forma classica"]},"nl":{"name":"Ziekte van Krabbe, infantiele vorm","synonyms":["Ziekte van Krabbe, klassieke vorm","Ziekte van Krabbe, vroege aanvang"]},"pt":{"name":"Doença de Krabbe da infância"},"pl":{"name":"Dziecięca choroba Krabbego","synonyms":["Choroba Krabbego o wczesnym początku","Choroba Krabbego, forma klasyczna"]},"cs":{"name":"Infantilní Krabbeho choroba","synonyms":["Krabbeho choroba, klasická forma","Krabbeho choroba s časným nástupem"]},"uk":{"name":"Інфантильна хвороба Краббе","synonyms":["Хвороба Краббе, класична форма","Хвороба Краббе, ранній початок"]},"zh":{"name":"婴儿Krabbe病","synonyms":["典型Krabbe病"]},"tr":{"name":"İnfantil Krabbe hastalığı","synonyms":["Krabbe hastalığı, erken başlangıçlı","Krabbe hastalığı, klasik form"]}},"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":"999546344"},{"source":"MONDO","code":"0016089","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0751273","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"]},{"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"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.254,"area":"United States","status":"Validated","source":"26795590[PMID]"},{"type":"Point prevalence","qualification":"Class 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(29-5%)","criteria":null},{"hpo":"HP:0000613","label":"Photophobia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002421","label":"Poor head control","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002719","label":"Recurrent infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002098","label":"Respiratory distress","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002878","label":"Respiratory failure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003547","label":"Shoulder girdle muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030211","label":"Slow pupillary light response","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005968","label":"Temperature instability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000572","label":"Visual loss","frequency":"Occasional 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