{"orpha":171848,"name":"Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["PHARC syndrome","Peripheral neuropathy, Fiskerstrand type","Polyneuropathy-deafness-ataxia-retinitis pigmentosa-cataract syndrome"],"definition":"A rare neurologic syndrome with peripheral neuropathy characterized by polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataracts. Polyneuropathy presents with slowly progressive and often demyelinating sensorimotor neuropathy where pes cavus, decreased sensation and hyporeflexia may appear as early signs. Hearing loss is progressive, usually bilateral and presents with childhood/early adolescent-onset whereas patients develop retinis pigmentosa and cataracts (typically posterior subcapsular) often in early to mid-adulthood. Ataxia may manifest with gait instability/spasticity, dysarthria, intention tremor and dysmetria of the limbs. Additional clinical features may include tendon abnormalities, hyperreflexia, extensor plantar responses. Seizures and mild intellectual disability is reported in few patients.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-171848/","orphanet_url":"https://www.orpha.net/en/disease/detail/171848","names":{"fr":{"name":"Syndrome de polyneuropathie-surdité-ataxie-rétinite pigmentaire-cataracte","synonyms":["Syndrome PHARC"],"definition":"Syndrome neurologique rare associé à une neuropathie périphérique caractérisée par une polyneuropathie, une perte auditive, une ataxie, une rétinite pigmentaire et une cataracte. La polyneuropathie se manifeste par une neuropathie sensitivo-motrice à progression lente et souvent démyélinisante, dont les premiers signes peuvent être des pieds creux, une diminution de la sensibilité et une hyporéflexie. La perte auditive est progressive, généralement bilatérale et apparaît pendant l'enfance ou au début de l'adolescence, tandis que les patients développent une rétinite pigmentaire et une cataracte (généralement sous-capsulaire postérieure) souvent au début ou au milieu de l'âge adulte. L'ataxie peut se manifester par une démarche instable et spastique, une dysarthrie, des tremblements d'intention et une dysmétrie des membres. D'autres caractéristiques cliniques peuvent inclure des anomalies tendineuses, une hyperréflexie et le signe de Babinski. Des convulsions et une déficience intellectuelle légère ont été rapportées chez quelques patients."},"de":{"name":"Polyneuropathie-Hörverlust-Ataxie-Retinitis pigmentosa-Katarakt-Syndrom","synonyms":["Neuropathie, periphere, Typ Fiskerstrand","PHARC-Syndrom"],"definition":"Ein seltenes neurologisches Syndrom mit peripherer Neuropathie, das durch Polyneuropathie, Hörverlust, Ataxie, Retinitis pigmentosa und Katarakte gekennzeichnet ist. Die Polyneuropathie äußert sich in einer langsam fortschreitenden und häufig demyelinisierenden sensomotorischen Neuropathie, bei der Pes cavus, verminderte Empfindung und Hyporeflexie als erste Anzeichen auftreten können. Die Schwerhörigkeit ist progressiv, in der Regel beidseitig und beginnt in der Kindheit/frühen Jugend, während sich die Retinis pigmentosa und Katarakte (typischerweise posterior subkapsulär) oft im frühen bis mittleren Erwachsenenalter entwickeln. Die Ataxie kann sich durch Gangunsicherheit/Spastik, Dysarthrie, Intentionstremor und Dysmetrie der Gliedmaßen äußern. Weitere klinische Merkmale können Sehnenanomalien, Hyperreflexie und extensorische Plantarreflexe sein. Krampfanfälle und eine leichte Intelligenzminderung werden bei wenigen Patienten berichtet."},"es":{"name":"Síndrome de polineuropatía-hipoacusia-ataxia-retinosis pigmentaria-cataratas","synonyms":["Neuropatía periférica tipo Fiskerstrand","Síndrome PHARC","Síndrome de polineuropatía-sordera-ataxia-retinosis pigmentaria-cataratas"],"definition":"Es un síndrome neurológico poco frecuente con neuropatía periférica caracterizado por polineuropatía, hipoacusia, ataxia, retinosis pigmentaria y cataratas. La polineuropatía se manifiesta como neuropatía sensitivomotora de progresión lenta y a menudo desmielinizante, con pie cavo, disminución de la sensibilidad e hiporreflexia como posibles signos precoces. La hipoacusia es progresiva, generalmente bilateral, y debuta en la infancia/adolescencia temprana, mientras que los pacientes desarrollan retinosis pigmentaria y cataratas (típicamente subcapsulares posteriores) a menudo en la adultez temprana o media. La ataxia puede manifestarse con inestabilidad/espasticidad de la marcha, disartria, temblor intencional y dismetría de las extremidades. Otras características clínicas pueden incluir anomalías tendinosas, hiperreflexia y respuestas plantares extensoras. En algunos pacientes se han descrito crisis epilépticas y discapacidad intelectual leve."},"it":{"name":"Polineuropatia - perdita dell'udito - atassia - retinite pigmentosa - cataratta","synonyms":["Neuropatia periferica, tipo Fiskerstrand","Sindrome PHARC"]},"nl":{"name":"Polyneuropathie - gehoorverlies - ataxie - retinitis pigmentosa - cataract-syndroom","synonyms":["PHARC-syndroom","Perifere neuropathie, Fiskerstrand-type","Polyneuropathie - doofheid - ataxie - retinitis pigmentosa - cataract-syndroom"],"definition":"Een zeldzaam neurologisch syndroom met perifere neuropathie, gekenmerkt door polyneuropathie, gehoorverlies, ataxie, retinitis pigmentosa, en cataract. Polyneuropathie presenteert zich met traag progressieve en vaak demyeliniserende sensorimotorische neuropathie waarbij pes cavus (holvoet), verminderde sensatie en hyporeflexie kunnen optreden als vroege verschijnselen. Gehoorverlies is progressief, meestal bilateraal en vangt aan in de kindertijd/vroege adolescentie, terwijl patiënten vroeg in tot halverwege de volwassenheid vaak retinitis pigmentosa en cataract (doorgaans posterieur subcapsulair) ontwikkelen. Ataxie kan zich manifesteren met instabiele/spastische gang, dysartrie, intentietremor en dysmetrie van de ledematen. Mogelijke bijkomende klinische kenmerken zijn onder meer afwijkingen van pezen, hyperreflexie, en voetzoolreflex met extensie. Bij enkele patiënten werden insulten en milde intellectuele achterstand gerapporteerd."},"pt":{"name":"Sindrome de polineuropatia-perda auditiva-ataxia-retinite pigmentosa-catarata","synonyms":["Neuropatia periférica, tipo Fiskerstrand"]},"pl":{"name":"Polineuropatia - utrata słuchu - ataksja - zwyrodnienie barwnikowe siatkówki - zaćma","synonyms":["Neuropatia obwodowa, typ Fiskerstranda","Zespół PHARC"]},"cs":{"name":"Syndrom zahrnující polyneuropatii, ztrátu sluchu, ataxii, retinitis pigmentosa a kataraktu","synonyms":["PHARC syndrom","Periferní neuropatie, Fiskerstrandův typ"]},"uk":{"name":"Синдром полінейропатії-втрати слуху-атаксії-пігментного ретиніту-катаракти","synonyms":["Периферична нейропатія, тип Фіскерстранда","Синдром PHARC","Полінейропатія-глухота-атаксія-пігментний ретиніт-катарактальний синдром"],"definition":"This rare neurologic disease is a slowly-progressive Refsum-like disorder associating signs of peripheral neuropathy with late-onset hearing loss, cataract and pigmentary retinopathy that become evident during the third decade of life."},"zh":{"name":"多发性神经病-听觉损失-共济失调-视网膜色素变性-白内障综合征","synonyms":["多发性神经病-耳聋-共济失调-视网膜色素变性-白内障综合征"],"definition":"多发性神经病-听力丧失-共济失调-色素性视网膜炎-白内障综合征是一种缓慢进行性雷弗素姆样疾病，其周围神经病变的体征与迟发性听力损失、白内障和色素性视网膜炎相关，这些症状在20-30岁加重。"},"tr":{"name":"Polinöropati-işitme kaybı-ataksi-retinitis pigmentosa-katarakt sendromu","synonyms":["PHARC sendromu","Periferik nöropati, Fiskerstrand tipi","Polinöropati-sağırlık-ataksi-retinitis pigmentosa-katarakt sendromu"]}},"xrefs":[{"source":"OMIM","code":"612674","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G60.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2H.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"865501832"},{"source":"MONDO","code":"0012984","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4509920","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":352309,"name":"Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement","classifications":[150,156]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]},{"orpha":716405,"name":"Rare disorder with progressive generalized retinal disorder as a major feature","classifications":[156,189]},{"orpha":207015,"name":"Rare hereditary disease with peripheral neuropathy","classifications":[156,181]},{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]}],"children":[],"genes":[{"symbol":"ABHD12","name":"abhydrolase domain containing 12, lysophospholipase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20797687[PMID]","hgnc":"15868","ensembl":"ENSG00000100997","omim":"613599","loci":["20p11.21"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":19.0,"area":"Worldwide","status":"Validated","source":"23490117[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}