{"orpha":619979,"name":"Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare syndrome with combined immunodeficiency characterized by mild developmental delay, learning disability, failure to thrive, short stature, immunodeficiency leading to recurrent respiratory and skin infections, leukoencephalopathy, and hypohomocysteinaemia. Additional clinical features may include heart defects.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-619979/","orphanet_url":"https://www.orpha.net/en/disease/detail/619979","names":{"fr":{"name":"Syndrome de retard du développement-immunodéficience-leucoencéphalopathie-hypohomocystéinémie","definition":"Syndrome rare avec déficit immunitaire combiné caractérisé par un léger retard de développement, des difficultés d'apprentissage, un retard de croissance, une petite taille, une immunodéficience entraînant des infections respiratoires et cutanées récurrentes, une leucoencéphalopathie et une hypohomocystéinémie. Parmi les autres manifestations peuvent figurer des anomalies cardiaques."},"de":{"name":"Entwicklungsverzögerung-Immundefekt-Leukoenzephalopathie-Hypohomocysteinämie-Syndrom","definition":"Ein seltenes Syndrom mit kombiniertem Immundefekt, das durch leichte Entwicklungsverzögerung, Lernbehinderung, Gedeihstörung, Kleinwuchs, Immunschwäche, die zu wiederkehrenden Atemwegs- und Hautinfektionen führt, Leukoenzephalopathie und Hypohomocysteinämie gekennzeichnet ist. Weitere klinische Merkmale können Herzfehler sein."},"es":{"name":"Síndrome de retraso del desarrollo-inmunodeficiencia-leucoencefalopatía-hipohomocisteinemia","definition":"Es un síndrome poco frecuente con inmunodeficiencia combinada caracterizado por leve retraso del desarrollo, problemas de aprendizaje, retraso del crecimiento, talla baja, inmunodeficiencia que conduce a infecciones respiratorias y cutáneas recurrentes, leucoencefalopatía e hipohomocisteinemia. Las características clínicas adicionales pueden incluir defectos cardíacos."},"it":{"name":"Sindrome da ritardo dello sviluppo, immunodeficienza, leucoencefalopatia e ipo-omocisteinemia"},"nl":{"name":"Ontwikkelingsachterstand - immuundeficiëntie - leuko-encefalopathie - hypohomocysteïnemie-syndroom","definition":"Een zeldzaam syndroom met gecombineerde immuundeficiëntie, gekenmerkt door milde ontwikkelingsachterstand, leerstoornis, niet-gedijen, kleine gestalte, immuundeficiëntie die leidt tot recidiverende infecties van luchtwegen en huid, leuko-encefalopathie, en hypohomocysteïnemie. Mogelijke bijkomende klinische kenmerken zijn onder meer hartdefecten."},"pt":{"name":"Síndrome de perturbação do desenvolvimento-imunodeficiência-leucoencefalopatia-hipohomocistinémia","definition":"Síndrome rara com imunodeficiência combinada caracterizada por perturbação leve no desenvolvimento, deficiência de aprendizagem, falha de desenvolvimento, baixa estatura, imunodeficiência levando a infeções respiratórias e cutâneas recorrentes, leucoencefalopatia e hipohomocisteinemia. Características clínicas adicionais podem incluir defeitos cardíacos."},"pl":{"name":"Zespół opóźnienia rozwoju-niedoboru odporności-leukoencefalopatii-hipohomocysteinemii","definition":"Rzadki zespół z łączonym niedoborem odporności, charakteryzujący się łagodnym opóźnieniem rozwoju, niepełnosprawnością intelektualną, brakiem prawidłowego wzrastania, niskorosłością, niedoborem odporności prowadzącym do nawracających infekcji układu oddechowego i skóry, leukoencefalopatią i hipohomocysteinemią. Dodatkowe cechy kliniczne mogą obejmować wady serca."},"cs":{"name":"Syndrom zahrnující opožděný vývoj, imunodeficienci, leukoencefalopatii a hypohomocysteinémii"},"uk":{"name":"Синдром затримки розвитку-імунодефіциту-лейкоенцефалопатії-гіпогомоцистеїнемії","definition":"A rare syndrome with combined immunodeficiency characterized by mild developmental delay, learning disability, failure to thrive, short stature, immunodeficiency leading to recurrent respiratory and skin infections, leukoencephalopathy, and hypohomocysteinaemia. Additional clinical features may include heart defects."}},"xrefs":[{"source":"OMIM","code":"617744","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E72.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C50.5","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"ICD-11","code":"5C50.B","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0850071","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681830","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":79173,"name":"Disorder of methionine cycle and sulfur amino acid metabolism","classifications":[150,156]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]},{"orpha":331217,"name":"Syndrome with combined immunodeficiency","classifications":[156,195]}],"children":[],"genes":[{"symbol":"NFE2L2","name":"NFE2 like bZIP transcription factor 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"31953710[PMID]","hgnc":"7782","ensembl":"ENSG00000116044","omim":"600492","loci":["2q31.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"29018201[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"29018201[PMID]_ORPHANET"}],"phenotypes":null}