{"orpha":85448,"name":"AGel amyloidosis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Familial amyloid polyneuropathy type IV","Familial amyloidosis, Finnish type","Gelsolin amyloidosis","Hereditary amyloidosis, Finnish type"],"definition":"A rare, systemic amyloidosis characterized by a triad of ophthalmologic, neurologic and dermatologic findings due to the deposition of gelsolin amyloid fibrils in these tissues. Clinical manifestations include corneal lattice dystrophy, cranial neuropathy, especially affecting the facial nerve, bulbar signs, cutis laxa, increased skin fragility, and less commonly peripheral neuropathy and renal failure.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-85448/","orphanet_url":"https://www.orpha.net/en/disease/detail/85448","names":{"fr":{"name":"Amylose AGel","synonyms":["Amylose familiale type finlandais","Amylose finlandaise","Amylose à Gelsoline","Polyneuropathie amyloïde familiale type 4"],"definition":"Amylose systémique rare, caractérisée par une triade associant les signes ophtalmologiques, neurologiques et dermatologiques dus au dépôt de fibrilles amyloïdes de gelsoline dans ces tissus. Les manifestations cliniques sont une dystrophie cornéenne grillagée, une neuropathie crânienne, affectant particulièrement le nerf facial, des signes d'une atteinte bulbaires, une cutis laxa, une fragilité accrue de la peau et, plus rarement, une neuropathie périphérique et une insuffisance rénale."},"de":{"name":"Agel-Amyloidose","synonyms":["Amyloidose, familiäre, finnischer Typ","Amyloidose, hereditäre, finnischer Typ","Amyloidpolyneuropathie, familiäre, Typ 4","Gelsolin-Amyloidose"],"definition":"Eine seltene systemische Form der Amyloidose, die durch eine Trias aus ophthalmologischen, neurologischen und dermatologischen Befunden gekennzeichnet ist, die auf die Ablagerung von Gelolin-Amyloidfibrillen in diesen Geweben zurückzuführen ist. Zu den klinischen Manifestationen gehören Hornhautgitterdystrophie, kraniale Neuropathie, die insbesondere den Gesichtsnerv betrifft, bulbäre Zeichen, Cutis laxa, erhöhte Hautbrüchigkeit und seltener periphere Neuropathie und Nierenversagen."},"es":{"name":"Amiloidosis AGel","synonyms":["Amiloidosis familiar tipo finlandés","Amiloidosis hereditaria tipo finlandés","Amiloidosis por gelsolina","Polineuropatía amiloide familiar tipo IV"],"definition":"Es una amiloidosis sistémica poco frecuente caracterizada por una tríada de hallazgos oftalmológicos, neurológicos y dermatológicos debidos al depósito de fibrillas amiloides de gelsolina en estos tejidos. Las manifestaciones clínicas incluyen distrofia corneal reticular, neuropatía craneal que afecta especialmente al nervio facial, síntomas bulbares, cutis laxa, aumento de la fragilidad cutánea y, con menor frecuencia, neuropatía periférica e insuficiencia renal."},"it":{"name":"Amiloidosi AGel","synonyms":["Amiloidosi da gelsolina","Amiloidosi ereditaria, tipo finlandese","Amiloidosi familiare, tipo finlandese","Polineuropatia amiloide familiare, tipo IV"],"definition":"L'amiloidosi AGel è un'amiloidosi sistemica rara, caratterizzata dalla triade: segni oculari, neurologici e dermatologici. È causata da depositi di fibrille di amiloide di gelsolina in questi tessuti. I segni clinici comprendono la distrofia corneale reticolare, la neuropatia cranica, che interessa soprattutto i nervi facciali, i segni bulbari, la cutis laxa, una maggiore fragilità della cute e, più raramente, la neuropatia periferica e l'insufficienza renale."},"nl":{"name":"AGel-amyloïdose","synonyms":["Erfelijke amyloïdose, Fins type","Familiale amyloïde polyneuropathie type IV","Familiale amyloïdose, Fins type","Gelsoline-amyloïdose"],"definition":"Een zeldzame, systemische amyloïdose, gekarakteriseerd door een triade van oftalmologische, neurologische en dermatologische bevindingen als gevolg van afzettingen van amyloïdfibrillen van gelsoline in deze weefsels. Klinische manifestaties zijn onder meer lattice corneadystrofie, craniale neuropathie die voornamelijk de nervus facialis aantast, bulbaire tekenen, cutis laxa, verhoogde broosheid van huid, en, minder gangbaar, perifere neuropathie en nierfalen."},"pt":{"name":"Amiloidose familiar tipo finlandês"},"pl":{"name":"Amyloidoza Agel","synonyms":["Amyloidoza gelsolinowa","Dziedziczna amyloidoza, typ fiński","Rodzinna amyloidoza, typ fiński","Rodzinna polineuropatia amyloidowa typu 4"]},"cs":{"name":"AGel amyloidóza","synonyms":["Familiární amyloidní polyneuropatie, typ IV","Familiární amyloidóza, finský typ","Gelsolinova amyloidóza","Hereditární amyloidóza, finský typ"]},"uk":{"name":"Амілоїдоз AGel","synonyms":["Сімейна амілоїдна полінейропатія IV типу","Сімейний амілоїдоз, фінський тип","Гельсоліновий амілоїдоз","Спадковий амілоїдоз, фінський тип"],"definition":"A rare, systemic amyloidosis characterized by a triad of ophthalmologic, neurologic and dermatologic findings due to the deposition of gelsolin amyloid fibrils in these tissues. Clinical manifestations include corneal lattice dystrophy, cranial neuropathy, especially affecting the facial nerve, bulbar signs, cutis laxa, increased skin fragility, and less commonly peripheral neuropathy and renal failure."},"zh":{"name":"凝溶胶蛋白型淀粉样变","synonyms":["家族性淀粉样多神经病IV型"]},"tr":{"name":"AGel amiloidoz","synonyms":["Gelsolin amiloidoz","Ailesel amiloidoz, Fin tipi","Kalıtsal amiloidoz, Fin tipi","Ailesel amiloid polinöropati tip IV"]}},"xrefs":[{"source":"OMIM","code":"105120","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E85.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5D00.2Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"386093751"},{"source":"MONDO","code":"0007097","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0936273","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2339","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98023,"name":"Rare systemic or rheumatologic disease"},"parents":[{"orpha":69,"name":"Amyloidosis","classifications":[196]},{"orpha":444116,"name":"Hereditary amyloidosis","classifications":[156]},{"orpha":207021,"name":"Rare hereditary systemic disease with peripheral neuropathy","classifications":[156,181]},{"orpha":98628,"name":"Syndromic corneal dystrophy","classifications":[156,189]}],"children":[],"genes":[{"symbol":"GSN","name":"gelsolin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"16258946[PMID]_22068858[PMID]_22622774[PMID]","hgnc":"4620","ensembl":"ENSG00000148180","omim":"137350","loci":["9q33.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":475.0,"area":"Worldwide","status":"Validated","source":"9547007[PMID]_17097682[PMID]_14639586[PMID]_20229579[PMID]_22068858[PMID]_2262277[PMID]_10729296[PMID]_[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-04-09","source":"26339870[PMID]_23356404[PMID]_25097823[PMID]_25342098[PMID]_27879149[PMID]_7836945[PMID]_1333716[PMID]_33908214[PMID]","terms":[{"hpo":"HP:0000478","label":"Abnormality of the eye","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001488","label":"Bilateral ptosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001005","label":"Dermatological manifestations of systemic disorders","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000958","label":"Dry skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001097","label":"Keratoconjunctivitis sicca","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001149","label":"Lattice corneal dystrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000707","label":"Abnormality of the nervous system","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011675","label":"Arrhythmia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000978","label":"Bruising susceptibility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012185","label":"Constrictive median neuropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012804","label":"Corneal ulceration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000973","label":"Cutis laxa","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007067","label":"Distal peripheral sensory neuropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000969","label":"Edema","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010628","label":"Facial palsy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002411","label":"Myokymia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001271","label":"Polyneuropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007663","label":"Reduced visual acuity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011356","label":"Regional abnormality of skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000217","label":"Xerostomia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025408","label":"Abnormal spleen morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010749","label":"Blepharochalasis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001638","label":"Cardiomyopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007488","label":"Diffuse skin atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000501","label":"Glaucoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000597","label":"Ophthalmoparesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004926","label":"Orthostatic hypotension due to autonomic dysfunction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000093","label":"Proteinuria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000989","label":"Pruritus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000763","label":"Sensory neuropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010535","label":"Sleep apnea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008070","label":"Sparse hair","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012473","label":"Tongue atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002483","label":"Bulbar signs","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002549","label":"Deficit in phonologic short-term memory","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000716","label":"Depression","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0008404","label":"Nail dystrophy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0011947","label":"Respiratory tract infection","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003774","label":"Stage 5 chronic kidney disease","frequency":"Very rare (<4-1%)","criteria":null}]}}