{"orpha":329308,"name":"Fatty acid hydroxylase-associated neurodegeneration","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["FAHN"],"definition":"Fatty acid hydroxylase-associated neurodegeneration (FAHN) is a very rare, autosomal recessive form of neurodegeneration with brain iron accumulation (NBIA) characterized by childhood-onset focal dystonia, progressive spastic paraplegia that progresses to tetra paresis, ataxia, dysarthria, intellectual decline, and oculomotor disturbances (optic atrophy), accompanied by iron deposition in the globus pallidus.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-329308/","orphanet_url":"https://www.orpha.net/en/disease/detail/329308","names":{"fr":{"name":"Neurodégénérescence associée à FA2H","synonyms":["FAHN","Neurodégénérescence associée à l'hydroxylase des acides gras"],"definition":"Forme très rare, autosomique récessive de neurodégénérescence avec surcharge cérébrale en fer (NBIA pour neurodegeneration with brain iron accumulation), caractérisée par une dystonie focale apparaissant dans l'enfance, une paraplégie spastique progressive évoluant vers une tétraparésie, une ataxie, une dysarthrie, un déclin cognitif et des troubles oculomoteurs (atrophie optique), accompagnés d'un dépôt de fer dans le globus pallidus."},"de":{"name":"Fettsäure-Hydroxylase-assoziierte Neurodegeneration","synonyms":["FAHN"]},"es":{"name":"Neurodegeneración asociada a hidroxilasa de ácidos grasos","synonyms":["FAHN"],"definition":"Es una forma muy poco frecuente, autosómica recesiva, de neurodegeneración con acúmulo cerebral de hierro (NBIA, por sus siglas en inglés). Está caracterizada por distonía focal de inicio en la infancia, paraparesia espástica progresiva que evoluciona a una tetraparesia, ataxia, disartria, deterioro intelectual, y trastornos oculomotores (atrofia óptica), acompañados de deposición de hierro en el globo pálido."},"it":{"name":"Neurodegenerazione associata a idrossilasi degli acidi grassi","synonyms":["FAHN"],"definition":"La neurodegenerazione associata a idrossilasi degli acidi grassi (FAHN) è una forma molto rara di neurodegenerazione con accumulo di ferro nel cervello (NBIA), a trasmissione autosomica recessiva. È caratterizzata da distonia focale ad esordio infantile, paraplegia spastica progressiva che evolve verso la tetraparesi, atassia, disartria, deterioramento intellettivo e alterazioni oculomotorie (atrofia ottica), associate a depositi di ferro nel globo pallido."},"nl":{"name":"Neurodegeneratie geassocieerd met vetzuurhydroxylase","synonyms":["FAHN"],"definition":"Vetzuurhydroxylasegeassocieerde neurodegeneratie (FAHN) is een zeer zeldzame, autosomaal recessieve vorm van neurodegeneratie met ijzerstapeling in de hersenen (NBIA), en wordt gekarakteriseerd door aanvang in de kindertijd van focale dystonie, progressieve spastische paraplegie die evolueert tot tetraparese, ataxie, dysartrie, intellectuele aftakeling, en oculomotorische stoornissen (opticus atrofie), vergezeld van afzetting van ijzer in de globus pallidus."},"pt":{"name":"Neurodegenerescência associada à hidroxilase dos ácidos gordos"},"pl":{"name":"Neurodegeneracja związana z hydroksylazą kwasów tłuszczowych","synonyms":["FAHN"]},"cs":{"name":"Neurodegenerace asociovaná s hydroxylázou mastných kyselin","synonyms":["FAHN"]},"uk":{"name":"Нейродегенерація, асоційована з гідроксилазою жирних кислот","synonyms":["FAHN"],"definition":"Fatty acid hydroxylase-associated neurodegeneration (FAHN) is a very rare, autosomal recessive form of neurodegeneration with brain iron accumulation (NBIA) characterized by childhood-onset focal dystonia, progressive spastic paraplegia that progresses to tetra paresis, ataxia, dysarthria, intellectual decline, and oculomotor disturbances (optic atrophy), accompanied by iron deposition in the globus pallidus."},"zh":{"name":"常染色体隐性遗传痉挛性截瘫35","synonyms":["FAHN"],"definition":"脂肪酸羟化酶相关神经退行性变（FAHN）是一种非常罕见的常染色体隐性神经退行性变伴脑铁储积（NBIA），其特征是儿童期发作的局灶性肌张力障碍，进行性痉挛性截瘫，发展为四肢轻瘫、共济失调、构音障碍、智力衰退，眼动障碍（视神经萎缩），伴有苍白球铁沉积。"},"tr":{"name":"Yağ asidi hidroksilaz -ilişkili nörodejenerasyon","synonyms":["FAHN"]}},"xrefs":[{"source":"OMIM","code":"612319","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G23.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C64.10","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"807932315"},{"source":"MONDO","code":"0017999","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C580102","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3668943","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10810","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":100981,"name":"Autosomal recessive complex spastic paraplegia","classifications":[156,181]},{"orpha":352306,"name":"Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement","classifications":[150,156]},{"orpha":385,"name":"Neurodegeneration with brain iron accumulation","classifications":[156,181]},{"orpha":441434,"name":"Syndromic hereditary optic neuropathy","classifications":[156,189]}],"children":[],"genes":[{"symbol":"FA2H","name":"fatty acid 2-hydroxylase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20853438[PMID]","hgnc":"21197","ensembl":"ENSG00000103089","omim":"611026","loci":["16q23.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_21735565[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-12-26","source":"20853438[PMID]_21735565[PMID]_22146942[PMID]","terms":[{"hpo":"HP:0002527","label":"Falls","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001268","label":"Mental deterioration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007240","label":"Progressive gait ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007020","label":"Progressive spastic paraplegia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002425","label":"Anarthria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006827","label":"Atrophy of the spinal cord","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002069","label":"Bilateral tonic-clonic seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001272","label":"Cerebellar atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006855","label":"Cerebellar vermis atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030584","label":"Color vision test abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007325","label":"Generalized dystonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000666","label":"Horizontal nystagmus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002079","label":"Hypoplasia of the corpus callosum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002505","label":"Loss of ambulation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002427","label":"Motor aphasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007153","label":"Progressive extrapyramidal movement disorder","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007199","label":"Progressive spastic paraparesis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002478","label":"Progressive spastic quadriplegia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007924","label":"Slow decrease in visual acuity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000605","label":"Supranuclear gaze palsy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002493","label":"Upper motor neuron dysfunction","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001123","label":"Visual field defect","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007359","label":"Focal-onset seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000739","label":"Anxiety","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0007302","label":"Bipolar affective disorder","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000716","label":"Depression","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0009830","label":"Peripheral neuropathy","frequency":"Very rare (<4-1%)","criteria":null}]}}