{"orpha":289465,"name":"Isolated congenital adermatoglyphia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Congenital absence of fingerprints","Immigration delay disease"],"definition":"Isolated congenital adermatoglyphia is a rare, genetic developmental defect during embryogenesis disorder characterized by the lack of epidermal ridges on the palms and soles, resulting in the absence of fingerprints, with no other associated manifestations. It is associated with a reduced number of sweat gland openings and reduced transpiration of palms and soles.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-289465/","orphanet_url":"https://www.orpha.net/en/disease/detail/289465","names":{"fr":{"name":"Adermatoglyphie congénitale isolée","synonyms":["Absence congénitale d'empreintes digitales","Absence congénitale de dermatoglyphes"],"definition":"L'adermatoglyphie congénitale isolée est un trouble génétique rare du développement survenant au cours de l'embryogenèse. Elle se caractérise par l'absence de crêtes épidermiques au niveau des paumes et des plantes des pieds, ce qui conduit à l'absence d'empreintes digitales, sans autre manifestation. Elle est associée à une restriction du nombre d'ouvertures des glandes sudoripares et à une hypohydrose au niveau des paumes et des plantes des pieds."},"de":{"name":"Adermatoglyphie, isolierte kongenitale","synonyms":["Einwanderungsverzögerungskrankheit","Fehlende Papillarleisten","Kongenitales Fehlen der Fingerabdrücke"],"definition":"Die isolierte kongenitale Adermatoglyphie ist eine seltene, genetisch bedingte Entwicklungsstörung während der Embryogenese, die durch das Fehlen epidermaler Grate an den Handflächen und Fußsohlen gekennzeichnet ist, was zum Fehlen von Fingerabdrücken führt, ohne dass andere Manifestationen damit verbunden sind. Sie ist mit einer reduzierten Anzahl von Schweißdrüsenöffnungen und einer verminderten Transpiration der Handflächen und Fußsohlen assoziiert."},"es":{"name":"Adermatoglifia congénita aislada","synonyms":["Ausencia congénita de huellas dactilares","Enfermedad de los retrasos en inmigración"],"definition":"La adermatoglifia congénita aislada es un defecto del desarrollo durante la embriogénesis, genético y poco frecuente, caracterizado por la ausencia de crestas epidérmicas en las palmas y las plantas de los pies, lo que resulta en la ausencia de huellas dactilares, sin otras manifestaciones asociadas. Se asocia con un reducido número de glándulas sudoríparas y una disminución de la transpiración de palmas y plantas."},"it":{"name":"Adermatoglifia congenita isolata","synonyms":["Assenza congenita delle impronte digitali","Malattia del ritardo nel rilascio del visto di immigrazione"],"definition":"L'adermatoglifia congenita isolata è un difetto genetico raro dello sviluppo dell'embrione, caratterizzato dall'assenza di creste epidermiche sul palmo delle mani e sulla pianta dei piedi, che esita nella mancanza delle impronte digitali, in assenza di altri segni. Si associa ad una riduzione del numero delle ghiandole sudoripare e della sudorazione sul palmo delle mani e sulla pianta dei piedi."},"nl":{"name":"Geïsoleerde congenitale adermatoglyfie","synonyms":["Congenitale afwezigheid van vingerafdrukken","Immigratievertragingsziekte"],"definition":"Geïsoleerde congenitale adermatoglyfie is een zeldzaam, genetisch ontwikkelingsdefect tijdens de embryogenese dat gekarakteriseerd wordt door een gebrek aan epidermale ribbels op de palmen en de zolen, met de afwezigheid van vingerafdrukken tot gevolg, zonder andere geassocieerde manifestaties. Het is geassocieerd met een verminderd aantal openingen van zweetklieren en een verminderde transpiratie aan de palmen en zolen."},"pt":{"name":"Adermatoglifia isolada","synonyms":["Ausência de dermatoglifos","Ausência de impressões digitais"]},"pl":{"name":"Izolowana wrodzona adermatoglifia","synonyms":["Wrodzony brak linii papilarnych"]},"cs":{"name":"Vrozená izolovaná adermatoglyfie","synonyms":["Vrozená absence otisků prstů"]},"uk":{"name":"Ізольована вроджена адерматогліфія","synonyms":["Вроджена відсутність відбитків пальців","Хвороба затримки імміграції"],"definition":"Isolated congenital adermatoglyphia is a rare, genetic developmental defect during embryogenesis disorder characterized by the lack of epidermal ridges on the palms and soles, resulting in the absence of fingerprints, with no other associated manifestations. It is associated with a reduced number of sweat gland openings and reduced transpiration of palms and soles."},"zh":{"name":"孤立性先天性畸形症","synonyms":["先天性指纹缺失"],"definition":"孤立性先天性皮纹病是一种罕见的胚胎发育障碍性遗传发育缺陷，其特征是手掌和脚掌表皮脊缺失导致指纹缺失，无其他相关表现。这与汗腺开口减少和手掌、脚掌蒸腾作用减少有关。"},"tr":{"name":"İzole doğumsal adermatoglifiya","synonyms":["Göç gecikmesi hastalığı","Doğumsal parmak izi yokluğu"]}},"xrefs":[{"source":"OMIM","code":"136000","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q82.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0007619","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4706567","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12550","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":139027,"name":"Rare developmental defect with skin/mucosae involvement","classifications":[147,156]}],"children":[],"genes":[{"symbol":"SMARCAD1","name":"SNF2 related chromatin remodeling ATPase with DExD box 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"21820097[PMID]","hgnc":"18398","ensembl":"ENSG00000163104","omim":"612761","loci":["4q22.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}