{"orpha":79143,"name":"Isolated congenital anonychia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Isolated anonychia"],"definition":"Isolated congenital anonychia is characterized by nail abnormalities ranging from onychodystrophy (dystrophic nails) to anonychia (absence of nails). Onychodystrophy-anonychia has been described in at least four generations of a family with male-to-male transmission, suggesting autosomal dominant transmission. Anonychia has been described in approximately less than 20 cases; it is likely to be transmitted as an autosomal recessive trait. Total anonychia congenita, in which all the fingernails and toenails are absent, may have an autosomal dominant inheritance pattern.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79143/","orphanet_url":"https://www.orpha.net/en/disease/detail/79143","names":{"fr":{"name":"Anonychie congénitale isolée","synonyms":["Anonychie isolée"],"definition":"L'anonychie congénitale isoléee est caractérisée par des anomalies des ongles allant de l'onychodystrophie (ongles dystrophiques) à l'anonychie (absence des ongles). L'onychodystrophie-anonychie a été décrite dans au moins 4 générations d'une famille avec une transmission père-fils, suggérant une transmission autosomique dominante. L'anonychie a été décrite chez moins de 20 cas, elle est probablement transmise selon un mode autosomique récessif. Enfin, l'anonychie congénitale totale, dans laquelle tous les ongles des pieds et des mains sont absents, semblerait avoir un mode de transmission autosomique dominant."},"de":{"name":"Anonychie, isolierte kongenitale","synonyms":["Anonychie, isolierte"]},"es":{"name":"Anoniquia congénita aislada","synonyms":["Anoniquia aislada"],"definition":"Es un síndrome caracterizado por anomalías ungueales que van desde la onicodistrofia (uñas distróficas) hasta anoniquia (ausencia de las uñas). La onicodistrofia-anoniquia se ha descrito en, al menos, cuatro generaciones de una familia con transmisión entre varones, lo que sugiere una herencia autosómica dominante. La anoniquia se ha descrito en menos de 20 casos; es probable que la herencia sea autosómica recesiva. La anoniquia total congénita, en la que el paciente carece de todas las uñas de las manos y de los pies, podría seguir un patrón de herencia autosómica dominante."},"it":{"name":"Anonichia congenita isolata","synonyms":["Anonichia isolata"]},"nl":{"name":"Geïsoleerde congenitale anonychie","synonyms":["Geïsoleerde anonychie"],"definition":"Geïsoleerde congenitale anonychie wordt gekenmerkt door nagelanomalieën gaande van onychodystrofie (dystrofische nagels) tot anonychie (afwezigheid van nagels). Onychodystrofie - anonychie werd beschreven bij minstens vier generaties van een familie met transmissie van man op man, wat autosomaal dominante transmissie doet vermoeden. Anonychie werd bij minder dan 20 gevallen beschreven; het wordt waarschijnlijk overgedragen als een autosomaal recessief kenmerk. Totale anonychia congenita, waarbij alle vinger- en teennagels afwezig zijn, heeft mogelijk een autosomaal dominant overervingspatroon."},"pt":{"name":"Anoníquia congénita"},"pl":{"name":"Izolowany wrodzony brak paznokci","synonyms":["Izolowana anonychia"]},"cs":{"name":"Izolovaná vrozená anonychie","synonyms":["Izolovaná anonychie"]},"uk":{"name":"Ізольована вроджена аноніхія","synonyms":["Ізольована аноніхія"],"definition":"Isolated congenital anonychia is characterized by nail abnormalities ranging from onychodystrophy (dystrophic nails) to anonychia (absence of nails). Onychodystrophy-anonychia has been described in at least four generations of a family with male-to-male transmission, suggesting autosomal dominant transmission. Anonychia has been described in approximately less than 20 cases; it is likely to be transmitted as an autosomal recessive trait. Total anonychia congenita, in which all the fingernails and toenails are absent, may have an autosomal dominant inheritance pattern."},"zh":{"name":"孤立型先天性甲缺如","synonyms":["孤立型甲缺如"]},"tr":{"name":"İzole doğumsal anonişi","synonyms":["İzole anonişi"]}},"xrefs":[{"source":"OMIM","code":"107000","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"206800","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614149","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q84.3","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"EC22.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2087755035"},{"source":"MONDO","code":"0019211","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536377","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0265998","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":79369,"name":"Isolated nail anomaly","classifications":[156,187]},{"orpha":139027,"name":"Rare developmental defect with skin/mucosae involvement","classifications":[147,156]}],"children":[{"orpha":94150,"name":"Anonychia congenita totalis","type":"Clinical subtype"},{"orpha":90390,"name":"Anonychia-onychodystrophy syndrome","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"RSPO4","name":"R-spondin 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"17914448[PMID]","hgnc":"16175","ensembl":"ENSG00000101282","omim":"610573","loci":["20p13"],"via":{"orpha":94150,"name":"Anonychia congenita totalis"}}],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":50.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}