{"orpha":98977,"name":"Juvenile glaucoma","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare primary early-onset glaucoma characterized by early onset, severe elevation of intra ocular pressure of rapid progression, leading to optic nerve excavation and, when untreated, substantial visual impairment.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-98977/","orphanet_url":"https://www.orpha.net/en/disease/detail/98977","names":{"fr":{"name":"Glaucome juvénile","definition":"Glaucome rare à début précoce primitif caractérisé par une élévation importante de la pression intra-oculaire d'apparition précoce et de progression rapide, conduisant à une excavation du nerf optique et à une déficience visuelle substantielle en l'absence de traitement."},"de":{"name":"Glaukom, juveniles","definition":"Ein primäres Glaukom mit frühem Beginn, gekennzeichnet durch einen früh einsetzenden, rasch fortschreitenden starken Anstieg des Augeninnendrucks, der zu einer Exkavation des Sehnervs und unbehandelt zu einer erheblichen Sehbehinderung führt."},"es":{"name":"Glaucoma juvenil","definition":"Es un glaucoma primario poco frecuente de inicio precoz caracterizado por su presentación temprana, un aumento de la presión intraocular grave y de progresión rápida que provoca la excavación del nervio óptico y, en ausencia de tratamiento, marcada discapacidad visual."},"it":{"name":"Glaucoma giovanile","definition":"Il glaucoma giovanile (JG) è un glaucoma primario ad esordio precoce, caratterizzato da un importante aumento della pressione intraoculare a progressione rapida, che esita nell'escavazione del nervo ottico e, in assenza trattamento, in un deficit visivo significativo."},"nl":{"name":"Juveniel glaucoom","definition":"Een zeldzaam primair vroeg optredend glaucoom, gekenmerkt door vroege aanvang en ernstige verhoging van intraoculaire druk met snelle progressie, die leidt tot excavatie (uitholling) van nervus opticus (oogzenuw) en, indien behandeling uitblijft, tot aanzienlijk verlies van gezichtsvermogen."},"pt":{"name":"Glaucoma juvenil","definition":"Glaucoma primário raro de início precoce, caracterizado por início precoce, aumento grave da pressão intraocular de rápida progressão, que origina uma escavação do nervo ótico e, quando não tratado, um substancial compromisso visual."},"pl":{"name":"Jaskra młodzieńcza","definition":"Rzadka jaskra pierwotna o wczesnym początku charakteryzująca się znacznym wzrostem ciśnienia wewnątrzgałkowego i szybką progresją, prowadząca do zagłębienia nerwu wzrokowego, co w przypadku braku leczenia prowadzi do znacznego upośledzenia widzenia."},"cs":{"name":"Juvenilní glaukom"},"uk":{"name":"Ювенільна глаукома","definition":"A rare primary early-onset glaucoma characterized by early onset, severe elevation of intra ocular pressure of rapid progression, leading to optic nerve excavation and, when untreated, substantial visual impairment."},"zh":{"name":"青少年型青光眼","definition":"该病是一种原发性的早发性青光眼，其特征是起病早、眼压严重升高且进展迅速，导致视神经突出，如果不治疗会造成严重的视力损害。"},"tr":{"name":"Jüvenil glokom"}},"xrefs":[{"source":"OMIM","code":"137750","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"231300","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"608695","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"608696","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"610535","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"611274","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"H40.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"9C61.41","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"230993897"},{"source":"MONDO","code":"0020367","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2981140","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10064032","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":156005,"name":"Primary early-onset glaucoma","classifications":[147,156,189]}],"children":[],"genes":[{"symbol":"EFEMP1","name":"EGF-like fibulin extracellular matrix protein 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"34923728[PMID]","hgnc":"3218","ensembl":"ENSG00000115380","omim":"601548","loci":["2p16.1"]},{"symbol":"MYOC","name":"myocilin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21730848[PMID]","hgnc":"7610","ensembl":"ENSG00000034971","omim":"601652","loci":["1q24.3"]},{"symbol":"CYP1B1","name":"cytochrome P450 family 1 subfamily B member 1","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"19643970[PMID]_22878448[PMID]","hgnc":"2597","ensembl":"ENSG00000138061","omim":"601771","loci":["2p22.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":2.0,"area":"United States","status":"Validated","source":"18214788[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-06-11","source":"21911678[PMID]_23358655[PMID]_28910179[PMID]_30855805[PMID]_27050345[PMID]","terms":[{"hpo":"HP:0000593","label":"Abnormal anterior chamber morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000587","label":"Abnormal optic nerve morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000525","label":"Abnormality iris morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007854","label":"Glaucomatous visual field defect","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007906","label":"Ocular hypertension","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012108","label":"Open angle glaucoma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001138","label":"Optic neuropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007994","label":"Peripheral visual field loss","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011003","label":"High myopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012796","label":"Increased cup-to-disc ratio","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012511","label":"Temporal optic disc pallor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000603","label":"Central scotoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0025326","label":"Retinal arterial occlusion","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012636","label":"Retinal vein occlusion","frequency":"Very rare (<4-1%)","criteria":null}]}}