{"orpha":464306,"name":"DYRK1A-related intellectual disability syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["DYRK1A syndrome"],"definition":"A rare genetic syndromic intellectual disability characterized by microcephaly, global developmental delay, mild to severe intellectual disability, impairment of speech, feeding problems, behavior problems (often autism spectrum disorder) and dysmorphic facial features (such as prominent ears, deep-set eyes, a short nose with a broad nasal tip, and retrognathia with a broad chin). Other, more variable manifestations include seizures, short stature, ocular anomalies, cardiac anomalies, urogenital anomalies and musculoskeletal defects.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-464306/","orphanet_url":"https://www.orpha.net/en/disease/detail/464306","names":{"fr":{"name":"Syndrome de déficience intellectuelle associé à DYRK1A","synonyms":["Syndrome de DYRK1A"],"definition":"Déficience intellectuelle syndromique rare d'origine génétique, caractérisée par une microcéphalie, un retard global de développement, une déficience intellectuelle légère à sévère, un trouble de la parole, des difficultés à s'alimenter, des troubles du comportement (souvent un trouble du spectre autistique) et une dysmorphie faciale (oreilles proéminentes, yeux profondément situés dans les orbites, nez court et large pointe nasale, rétrognathie et menton large). Les autres manifestations, plus inconstantes, comprennent crises convulsives, petite taille, anomalies oculaires, anomalies cardiaques, anomalies urogénitales et atteintes musculosquelettiques."},"de":{"name":"Intelligenzminderung-Syndrom, DYRK1A-assoziiertes","synonyms":["DYRK1A-Syndrom"],"definition":"Eine genetisch bedingte syndromale Form der Intelligenzminderung, die durch Mikrozephalie, globale Entwicklungsverzögerung, leichte bis schwere intellektuelle Beeinträchtigung, Sprachstörungen, Fütterungsprobleme, Verhaltensprobleme (häufig Autismus-Spektrum-Störung) und Gesichtsdysmorphien (wie abstehende Ohren, tief liegende Augen, eine kurze Nase mit breiter Nasenspitze und Retrognathie mit breitem Kinn) gekennzeichnet ist. Andere, variablere Erscheinungsformen sind Krampfanfälle, Kleinwuchs, Augenanomalien, kardiale Anomalien, urogenitale Anomalien und Defekte des Bewegungsapparats."},"es":{"name":"Síndrome de discapacidad intelectual asociado al gen DYRK1A","synonyms":["Síndrome DYRK1A"],"definition":"Es una discapacidad intelectual sindrómica poco frecuente caracterizada por microcefalia, retraso global del desarrollo, discapacidad intelectual de leve a grave, trastornos del habla, problemas de alimentación, trastornos de la conducta (a menudo, trastorno del espectro autista) y rasgos faciales dismórficos (orejas prominentes, ojos hundidos, nariz corta con punta nasal ancha y retrognatia con mentón ancho). Otras manifestaciones más variables incluyen crisis, talla baja, anomalías oculares, cardíacas y urogenitales, y defectos músculo-esqueléticos."},"it":{"name":"Sindrome da disabilità intellettiva correlata a DYRK1A","synonyms":["Sindrome DYRK1A"],"definition":"Si tratta di una disabilità intellettiva sindromica rara, di origine genetica, caratterizzata da microcefalia, ritardo dello sviluppo globale, disabilità intellettiva lieve-grave, compromissione del linguaggio, difficoltà di alimentazione, problemi comportamentali (sono comuni i disturbi dello spettro autistico) e dismorfismi facciali (orecchie prominenti, occhi infossati, naso corto con punta larga, retrognazia con mento largo). Altri segni clinici più variabili sono le crisi epilettiche, la bassa statura, le anomalie oculari, le cardiopatie, le anomalie urogenitali e i difetti muscoloscheletrici."},"nl":{"name":"DYRK1A-gerelateerd intellectuele achterstand-syndroom","synonyms":["DYRK1A-syndroom"],"definition":"Een zeldzame, genetische syndromale intellectuele achterstand, gekenmerkt door microcefalie, algehele ontwikkelingsachterstand, milde tot ernstige intellectuele achterstand, spraakstoornis, voedingsproblemen, gedragsproblemen (vaak autismespectrumstoornis), en dysmorfe gelaatskenmerken (zoals prominente oren, diepliggende ogen, korte neus met brede neuspunt, en retrognathie met brede kin). Overige, meer variabele manifestaties zijn onder meer insulten, kleine gestalte, ooganomalieën, hartanomalieën, urogenitale anomalieën, en musculoskeletale defecten."},"pt":{"name":"Síndrome de perturbação do desenvolvimento intelectual DYRK1A-relacionada","synonyms":["Síndrome DYRK1A"]},"pl":{"name":"Zespół niepełnosprawności intelektualnej zależny od DYRK1A","synonyms":["DYRK1A syndrome"]},"cs":{"name":"DYRK1A-vázaný syndrom s mentální retardací","synonyms":["DYRK1A syndrome"]},"uk":{"name":"Синдром інтелектуальної недостатності, повязаний з DYRK1A","synonyms":["Синдром DYRK1A"],"definition":"A rare genetic syndromic intellectual disability characterized by microcephaly, global developmental delay, mild to severe intellectual disability, impairment of speech, feeding problems, behavior problems (often autism spectrum disorder) and dysmorphic facial features (such as prominent ears, deep-set eyes, a short nose with a broad nasal tip, and retrognathia with a broad chin). Other, more variable manifestations include seizures, short stature, ocular anomalies, cardiac anomalies, urogenital anomalies and musculoskeletal defects."},"zh":{"name":"DYRK1A相关的智力障碍","synonyms":["DYRK1A syndrome"]},"tr":{"name":"DYRK1A-ilişkili zihinsel yetersizlik sendromu","synonyms":["DYRK1A syndrome"]}},"xrefs":[{"source":"OMIM","code":"614104","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD90.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0013578","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5568143","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"13527","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]}],"children":[{"orpha":268261,"name":"DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion","type":"Etiological subtype"},{"orpha":464311,"name":"Intellectual disability syndrome due to a DYRK1A point mutation","type":"Etiological subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"DYRK1A","name":"dual specificity tyrosine phosphorylation regulated kinase 1A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"25944381[PMID]_25641759[PMID]_26677511[PMID]","hgnc":"3091","ensembl":"ENSG00000157540","omim":"600855","loci":["21q22.13"],"via":{"orpha":464311,"name":"Intellectual disability syndrome due to a DYRK1A point mutation"}},{"symbol":"DYRK1A","name":"dual specificity tyrosine phosphorylation regulated kinase 1A","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"21031080[PMID]_25944381[PMID]_26677511[PMID]","hgnc":"3091","ensembl":"ENSG00000157540","omim":"600855","loci":["21q22.13"],"via":{"orpha":268261,"name":"DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion"}}],"inheritance":["Autosomal dominant","Not applicable","Unknown"],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":54.0,"area":"Worldwide","status":"Validated","source":"26922654[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_26922654[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-07-10","source":"26922654[PMID]_26677511[PMID]_23099646[PMID]_21294719[PMID]_18405873[PMID]","terms":[{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003086","label":"Acromesomelia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000733","label":"Abnormal repetitive mannerisms","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000739","label":"Anxiety","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000729","label":"Autistic behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002373","label":"Febrile seizure (within the age range of 3 months to 6 years)","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002465","label":"Poor speech","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011451","label":"Primary microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001518","label":"Small for gestational age","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000646","label":"Amblyopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010627","label":"Anterior pituitary hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001659","label":"Aortic regurgitation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001166","label":"Arachnodactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000483","label":"Astigmatism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002120","label":"Cerebral cortical atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007957","label":"Corneal opacity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000490","label":"Deeply set eye","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000577","label":"Exotropia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000752","label":"Hyperactivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000540","label":"Hypermetropia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002365","label":"Hypoplasia of the brainstem","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002079","label":"Hypoplasia of the corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000400","label":"Macrotia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002828","label":"Multiple joint contractures","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000341","label":"Narrow forehead","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011832","label":"Narrow nasal tip","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000543","label":"Optic disc pallor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010442","label":"Polydactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000426","label":"Prominent nasal bridge","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000411","label":"Protruding ear","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002719","label":"Recurrent infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001770","label":"Toe syndactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002013","label":"Vomiting","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003319","label":"Abnormality of the cervical spine","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001650","label":"Aortic valve stenosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003187","label":"Breast hypoplasia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002247","label":"Duodenal atresia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000964","label":"Eczematoid dermatitis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002280","label":"Enlarged cisterna magna","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001822","label":"Hallux valgus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000126","label":"Hydronephrosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000054","label":"Micropenis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001562","label":"Oligohydramnios","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000767","label":"Pectus excavatum","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000125","label":"Pelvic kidney","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002021","label":"Pyloric stenosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000107","label":"Renal cyst","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0010219","label":"Structural foot deformity","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000122","label":"Unilateral renal agenesis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Very rare (<4-1%)","criteria":null}]}}