{"orpha":1573,"name":"Hypotrichosis with juvenile macular degeneration","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["HJMD","Hypotrichosis with juvenile macular dystrophy"],"definition":"Hypotrichosis with juvenile macular degeneration (HJMD) is a very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1573/","orphanet_url":"https://www.orpha.net/en/disease/detail/1573","names":{"fr":{"name":"Hypotrichose avec dégénérescence maculaire juvénile","synonyms":["HJMD"],"definition":"L'hypotrichose avec dégénérescence maculaire juvénile (HDMJ) est un syndrome très rare caractérisé par des cheveux courts et épars à la naissance puis une dégénéscence maculaire progressive entraînant une cécité."},"de":{"name":"Hypotrichose mit juveniler Makuladegeneration","synonyms":["HJMD","Hypotrichose mit juveniler Makuladystrophie","Makuladystrophie - Hypotrichose, juvenile Form"],"definition":"Hypotrichose mit juveniler Makuladegeneration (HJMD) ist ein sehr seltenes Syndrom und gekennzeichnet durch spärliches, kurzes Haar seit Geburt, gefolgt von progredienter Makuladegeneration und Erblindung."},"es":{"name":"Degeneración macular juvenil con hipotricosis","synonyms":["Distrofia macular juvenil con hipotricosis","HJMD"],"definition":"La hipotricosis con degeneración macular juvenil (HJMD) es un síndrome muy poco frecuente caracterizado por un pelo escaso y corto desde el nacimiento, seguido por una degeneración macular progresiva de la retina que ocasiona ceguera."},"it":{"name":"Ipotricosi con degenerazione maculare giovanile","synonyms":["HJMD","Ipotricosi con distrofia maculare giovanile"],"definition":"L'ipotricosi con degenerazione maculare giovanile (HJMD) è una sindrome molto rara caratterizzata da capelli corti e radi già alla nascita associati a una successiva degenerazione maculare progressiva che esita nella cecità."},"nl":{"name":"Hypotrichose met juveniele maculadegeneratie","synonyms":["HJMD","Hypotrichose met juveniele maculadystrofie"],"definition":"Hypotrichose met juveniele maculadegeneratie (HJMD) is een zeer zeldzaam syndroom gekenmerkt door schaars en kort haar vanaf de geboorte, gevolgd door progressieve maculadegeneratie die leidt tot blindheid."},"pt":{"name":"Hipotricose com degenerescência macular juvenil","synonyms":["Degenerescência macular juvenil-hipotricose"],"definition":"A hipotricose com degeneração macular juvenil (HJMD) é uma síndrome muito rara, caracterizada por cabelo curto e esparso desde a nascença seguido de degeneração macular progressiva levando à cegueira."},"pl":{"name":"Hipotrichoza z młodzieńczym zwyrodnieniem plamki","synonyms":["Hipotrichoza z młodzieńczą dystrofią plamki","HJMD"]},"cs":{"name":"Hypotrichóza s juvenilní makulární degenerací","synonyms":["HJMD","Hypotrichóza s juvenilní makulární dystrofií"]},"uk":{"name":"Гіпотрихоз з ювенільною макулодистрофією","synonyms":["HJMD","Гіпотрихоз з ювенільною макулодистрофією"],"definition":"Hypotrichosis with juvenile macular degeneration (HJMD) is a very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness."},"zh":{"name":"稀毛症伴青少年黄斑变性","synonyms":["少毛症伴青少年黄斑变性"]},"tr":{"name":"Jüvenil maküler dejenerasyonlu hipotrikoz","synonyms":["HJMD","Jüvenil maküler distrofili hipotrikoz"]}},"xrefs":[{"source":"OMIM","code":"601553","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q84.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD27.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"402241160"},{"source":"MONDO","code":"0011107","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537698","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1832162","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3066","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":79373,"name":"Ectodermal dysplasia syndrome","classifications":[147,156,187]},{"orpha":716427,"name":"Rare disorder with progressive predominantly macular disorder as a major feature","classifications":[156,189]}],"children":[],"genes":[{"symbol":"CDH3","name":"cadherin 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"11544476[PMID]_12445216[PMID]_22140374[PMID]","hgnc":"1762","ensembl":"ENSG00000062038","omim":"114021","loci":["16q22.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":50.0,"area":"Worldwide","status":"Validated","source":"[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":"2016-06-01","source":null,"terms":[{"hpo":"HP:0008002","label":"Abnormality of macular pigmentation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000618","label":"Blindness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000608","label":"Macular degeneration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002209","label":"Sparse scalp hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002299","label":"Brittle hair","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002213","label":"Fine hair","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003777","label":"Pili torti","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002813","label":"Abnormality of limb bone morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001480","label":"Freckling","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000962","label":"Hyperkeratosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100326","label":"Immunologic hypersensitivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000995","label":"Melanocytic nevus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002652","label":"Skeletal dysplasia","frequency":"Occasional (29-5%)","criteria":null}]}}