{"orpha":180,"name":"Choroideremia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CHM","Tapetochoroidal dystrophy"],"definition":"Choroideremia (CHM) is an X-linked chorioretinal dystrophy characterized by progressive degeneration of the choroid, retinal pigment epithelium (RPE) and retina.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-180/","orphanet_url":"https://www.orpha.net/en/disease/detail/180","names":{"fr":{"name":"Choroïdérémie","synonyms":["CHM"],"definition":"La choroïdérémie est une dystrophie choriorétinienne liée à l'X caractérisée par la dégénérescence progressive de la choroïde, de l'épithélium pigmentaire de la rétine (EPR) et de la rétine."},"de":{"name":"Chorioideremie","synonyms":["CHM","Dystrophie, tapetochoroidale"],"definition":"Die Choroideremie (CHM) ist eine X-chromosomale chorio-retinale Dystrophie mit progredienter Degeneration der Choroidea, des Pigmentepithels der Retina (RPE) und der Retina."},"es":{"name":"Coroideremia","synonyms":["CHM","Distrofia tapetocoroidal"],"definition":"La coroideremia (CHM) es una distrofia coriorretiniana ligada al X caracterizada por una degeneración progresiva de la coroides, el epitelio pigmentario de la retina (EPR) y la retina."},"it":{"name":"Coroideremia","synonyms":["CHM","Distrofia del tappeto della coroide"],"definition":"La coroideremia (CHM) è una distrofia corioretinica legata all'X con degenerazione progressiva della coroide, dell'epitelio pigmentato della retina (RPE) e della retina."},"nl":{"name":"Choroïderemie","synonyms":["CHM","Tapetochoroïdale dystrofie"],"definition":"Choroïderemie (CHM) is een X-gebonden chorioretinale dystrofie gekenmerkt door progressieve degeneratie van de choroidea, retinaal pigmentepitheel (RPE) en de retina."},"pt":{"name":"Coroideremia","definition":"A coroideremia (CHM) é uma distrofia coriorretiniana ligada ao X caracterizada pela degeneração progressiva da coróide, do epitélio pigmentar da retina (EPR) e retina."},"pl":{"name":"Choroideremia","synonyms":["CHM"]},"cs":{"name":"Choroiderémie","synonyms":["CHM","Tapetochoroidální dystrofie"]},"uk":{"name":"Хороїдеремія","synonyms":["CHM","Тапетохороїдальна дистрофія"],"definition":"Choroideremia (CHM) is an X-linked chorioretinal dystrophy characterized by progressive degeneration of the choroid, retinal pigment epithelium (RPE) and retina."},"zh":{"name":"无脉络膜症","synonyms":["脉络膜毯层营养不良"]},"tr":{"name":"Koroideremi","synonyms":["CHM","Tapetokoroidal distrofi"]}},"xrefs":[{"source":"OMIM","code":"303100","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"H31.2","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"9B61","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"217923263"},{"source":"MONDO","code":"0010557","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D015794","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0008525","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6061","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10008791","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":717317,"name":"Rare genetic isolated progressive predominantly chorioretinal disorder","classifications":[156]},{"orpha":716348,"name":"Rare isolated progressive predominantly chorioretinal disorder","classifications":[189]}],"children":[],"genes":[{"symbol":"CHM","name":"CHM Rab escort protein","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"1940","ensembl":"ENSG00000188419","omim":"300390","loci":["Xq21.2"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Adolescent","Adult","Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":2.0,"area":"Europe","status":"Validated","source":"European Medicines Agency 2014[OTHER]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-06-06","source":"30627697[PMID]_20301511[PMID]_31819346[PMID]","terms":[{"hpo":"HP:0000512","label":"Abnormal electroretinogram","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007703","label":"Abnormality of retinal pigmentation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000662","label":"Nyctalopia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001139","label":"Choroideremia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001133","label":"Constriction of peripheral visual field","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007994","label":"Peripheral visual field loss","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000529","label":"Progressive visual loss","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030602","label":"Abnormal fundus autofluorescence imaging","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000533","label":"Chorioretinal atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011506","label":"Choroidal neovascularization","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000551","label":"Color vision defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040049","label":"Macular edema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007787","label":"Posterior subcapsular cataract","frequency":"Occasional (29-5%)","criteria":null}]}}