{"orpha":816,"name":"Sjögren-Larsson syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Fatty acid alcohol oxidoreductase deficiency"],"definition":"A rare neurocutaneous disorder caused by an inborn error of lipid metabolism and characterized by congenital ichthyosis, intellectual deficit, and spasticity.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-816/","orphanet_url":"https://www.orpha.net/en/disease/detail/816","names":{"fr":{"name":"Syndrome de Sjögren-Larsson","synonyms":["Déficit d'oxydoréduction des alcools d'acides gras"],"definition":"Maladie neuro-cutanée rare due à une anomalie innée du métabolisme des lipides et caractérisée par une ichthyose congénitale, une déficience intellectuelle et une spasticité."},"de":{"name":"Sjögren-Larsson-Syndrom","synonyms":["Fettaldehyd-Oxidoreduktase-Mangel","Fettalkohol: NAD+-Oxidoreduktase-Mangel"],"definition":"Eine seltene neurokutane Störung, die durch einen angeborenen Fehler des Fettstoffwechsels verursacht wird und durch kongenitale Ichthyose, Intelligenzminderung und Spastizität gekennzeichnet ist."},"es":{"name":"Síndrome de Sjögren-Larsson","definition":"Es un trastorno neurocutáneo poco frecuente causado por un error innato del metabolismo lipídico y caracterizado por ictiosis congénita, discapacidad intelectual y espasticidad."},"it":{"name":"Sindrome di Sjögren-Larsson","synonyms":["Deficit di aldeide deidrogenasi"],"definition":"La sindrome di Sjögren-Larsson (SLS) è una malattia neurocutanea rara, causata da un errore congenito del metabolismo dei lipidi, caratterizzata da ittiosi congenita, deficit cognitivo e spasticità."},"nl":{"name":"Syndroom van Sjögren-Larsson","synonyms":["Vetalcoholoxidoreductasedeficiëntie"],"definition":"Een zeldzame neurocutane aandoening veroorzaakt door een aangeboren defect van lipidemetabolisme, en gekarakteriseerd door congenitale ichthyosis, intellectuele achterstand, en spasticiteit."},"pt":{"name":"Síndrome Sjögren-Larsson","synonyms":["Deficiência de oxidoredutase dos álcoois de ácidos gordos"]},"pl":{"name":"Zespół Sjögrena i Larssona","synonyms":["Niedobór oksydoreduktazy alkoholowej kwasów tłuszczowych"]},"cs":{"name":"Sjogrenův-Larssonův syndrom","synonyms":["Deficit oxidoreduktázy alkoholů mastných kyselin","Sjogren-Larssonův syndrom"]},"uk":{"name":"Синдром Шегрена-Ларссона","synonyms":["Дефіцит алкогольоксидоредуктази жирних кислот"],"definition":"A rare neurocutaneous disorder caused by an inborn error of lipid metabolism and characterized by congenital ichthyosis, intellectual deficit, and spasticity."},"zh":{"name":"Sj÷gren-Larsson 综合征","synonyms":["脂肪酸醇氧化还原酶缺乏症"]},"tr":{"name":"Sjögren-Larsson sendromu","synonyms":["Yağ asidi alkol oksidoredüktaz eksikliği"]}},"xrefs":[{"source":"OMIM","code":"270200","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.1","qualifier":"NTBT","icd_relation":"index","validated":true},{"source":"ICD-11","code":"5C52.03","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"418359090"},{"source":"MONDO","code":"0010031","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D016111","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0037231","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7654","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10048676","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":281238,"name":"Autosomal ichthyosis syndrome with prominent neurologic signs","classifications":[156,187]},{"orpha":352306,"name":"Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement","classifications":[150,156]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]},{"orpha":716427,"name":"Rare disorder with progressive predominantly macular disorder as a major feature","classifications":[156,189]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"ALDH3A2","name":"aldehyde dehydrogenase 3 family member A2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"403","ensembl":"ENSG00000072210","omim":"609523","loci":["17p11.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.6,"area":"Sweden","status":"Validated","source":"7273467[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":16.0,"area":"Taiwan, Province of China","status":"Validated","source":"22899470[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 1 000 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2026-06-17","source":"30372562[PMID]_28543186[PMID]_34315315[PMID]_37180414 [PMID]","terms":[{"hpo":"HP:0000958","label":"Dry skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010783","label":"Erythema","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007503","label":"Generalized ichthyosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000962","label":"Hyperkeratosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001264","label":"Spastic diplegia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002069","label":"Bilateral tonic-clonic seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007305","label":"CNS demyelination","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007266","label":"Cerebral dysmyelination","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002188","label":"Delayed CNS myelination","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000613","label":"Photophobia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000580","label":"Pigmentary retinopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000989","label":"Pruritus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030507","label":"Retinal crystals","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030506","label":"Yellow/white lesions of the retina","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001760","label":"Abnormal foot morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012705","label":"Abnormal metabolic brain imaging by MRS","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001332","label":"Dystonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006801","label":"Hyperactive deep tendon reflexes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001276","label":"Hypertonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000966","label":"Hypohidrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005750","label":"Lower-limb joint contracture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001763","label":"Pes planus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002465","label":"Poor speech","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001622","label":"Premature birth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007663","label":"Reduced visual acuity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002313","label":"Spastic paraparesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001258","label":"Spastic paraplegia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002510","label":"Spastic tetraplegia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002023","label":"Anal atresia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0011448","label":"Ankle clonus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002099","label":"Asthma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0008936","label":"Axial hypotonia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003487","label":"Babinski sign","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000498","label":"Blepharitis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012444","label":"Brain atrophy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000670","label":"Carious teeth","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002312","label":"Clumsiness","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000280","label":"Coarse facial features","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000551","label":"Color vision defect","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001374","label":"Congenital hip dislocation","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000509","label":"Conjunctivitis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0007957","label":"Corneal opacity","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003083","label":"Dislocated radial head","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000268","label":"Dolichocephaly","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0006297","label":"Enamel hypoplasia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002267","label":"Exaggerated startle response","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003781","label":"Excessive salivation","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000297","label":"Facial hypotonia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0007894","label":"Hypopigmentation of the fundus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002751","label":"Kyphoscoliosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0006956","label":"Lateral ventricle dilatation","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000527","label":"Long eyelashes","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000608","label":"Macular degeneration","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001336","label":"Myoclonus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0040187","label":"Neonatal sepsis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012203","label":"Onychomycosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000768","label":"Pectus carinatum","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000767","label":"Pectus excavatum","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0006931","label":"Pericallosal lipoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002090","label":"Pneumonia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002344","label":"Progressive neurologic deterioration","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000520","label":"Proptosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0007024","label":"Pseudobulbar paralysis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0009237","label":"Short 5th finger","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0010743","label":"Short metatarsal","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012741","label":"Unilateral cryptorchidism","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012583","label":"Unilateral renal hypoplasia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000020","label":"Urinary incontinence","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Very rare (<4-1%)","criteria":null}]}}