{"orpha":404448,"name":"Helsmoortel-Van der Aa syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["ADNP syndrome","ADNP-related Helsmoortel-Van der Aa syndrome","ADNP-related syndromic intellectual disability-autism spectrum disorder","HVDAS"],"definition":"A rare neurodevelopmental disorder characterized by intellectual disability (ID), autistic features, gastrointestinal problems, hypotonia, delayed speech, behavioral and sleep problems, pain insensitivity, seizures, structural brain anomalies, dysmorphic features, and visual problems.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-404448/","orphanet_url":"https://www.orpha.net/en/disease/detail/404448","names":{"fr":{"name":"Syndrome de Helsmoortel-Van der Aa","synonyms":["Déficience intellectuelle syndromique-trouble du spectre de l'autisme liés à ADNP","HVDAS","Syndrome ADNP","Syndrome de Helsmoortel-Van der Aa associé à ADNP"],"definition":"Maladie neurodéveloppementale rare caractérisée par une déficience intellectuelle (DI), des traits autistiques, des troubles gastro-intestinaux, une hypotonie, un retard de parole, des troubles du comportement et du sommeil, une insensibilité à la douleur, des crises convulsives, des anomalies structurelles du cerveau, une dysmorphie et des troubles de la vision."},"de":{"name":"Helsmoortel-Van der Aa-Syndrom","synonyms":["ADNP-Syndrom","ADNP-assoziierte syndromale Intelligenzminderung mit Autismus-Spektrum-Störung","HVDAS"],"definition":"Eine seltene neurologische Entwicklungsstörung, die durch Intelligenzminderung (IM), autistische Merkmale, Magen-Darm-Probleme, Hypotonie, verzögerte Sprachentwicklung, Verhaltens- und Schlafstörungen, Schmerzunempfindlichkeit, Krampfanfälle, strukturelle Anomalien des Gehirns, dysmorphe Merkmale und Sehstörungen gekennzeichnet ist."},"es":{"name":"Síndrome de Helsmoortel-Van der Aa","synonyms":["HVDAS","Síndrome ADNP","Síndrome de Helsmoortel-Van der Aa asociado a ADNP","Trastorno de discapacidad intelectual sindrómica-espectro autista asociado a ADNP"],"definition":"Es una discapacidad intelectual sindrómica poco frecuente caracterizada por un retraso global del desarrollo, problemas gastrointestinales, hipotonía, retraso del habla, trastornos de conducta y del sueño, insensibilidad al dolor, crisis, anomalías cerebrales estructurales, dismorfia, problemas visuales, erupción dental temprana y rasgos autistas."},"it":{"name":"Sindrome di Helsmoortel-Van der Aa","synonyms":["Sindrome ADNP","Sindrome di Helsmoortel-Van der Aa correlata all'ADNP","Disabilità intellettiva sindromica-disturbo dello spettro autistico correlata ad ADNP","HVDAS"],"definition":"È una disabilità intellettuale sindromica rara, caratterizzata da ritardo dello sviluppo globale, problemi gastrointestinali, ipotonia, ritardo del linguaggio, disturbi comportamentali e del sonno, insensibilità al dolore, crisi epilettiche, anomalie di struttura del cervello, dismorfismi, problemi della vista, eruzione precoce dei denti e tratti autistici."},"nl":{"name":"Syndroom van Helsmoortel-Van Der Aa","synonyms":["ADNP-gerelateerd syndroom van Helsmoortel-Van Der Aa","ADNP-gerelateerde syndromale intellectuele achterstand - autismespectrumstoornis","ADNP-syndroom","HVDAS"],"definition":"Een zeldzame neurologische ontwikkelingsstoornis, gekenmerkt door intellectuele achterstand, autistische kenmerken, gastro-intestinale problemen, hypotonie, vertraagde spraakontwikkeling, gedrags- en slaapproblemen, ongevoeligheid voor pijn, insulten, structurele hersenanomalieën, dysmorfe kenmerken, en visuele problemen."},"pt":{"name":"Síndrome ADNP","synonyms":["HVDAS","Síndrome Helsmoortel-Van Der Aa","Doença de perturbação do desenvolvimento intelectual sindrómica-espectro clínico de autismo ADNP-relacionado"]},"pl":{"name":"Zespół Helsmoortel-van der Aa","synonyms":["ADNP syndrome","ADNP-related Helsmoortel-Van der Aa syndrome","ADNP-related syndromic intellectual disability-autism spectrum disorder","HVDAS"],"definition":"*Zespół ADNP jest rzadkim zespołem z niepełnosprawnością intelektualną, który charakteryzuje się niepełnosprawnością intelektualną o różnym stopniu nasileniu, hipotonią, całościowym opóźnieniem rozwoju, znacznym opóźnieniem mowy, zaburzeniami zachowania, niewrażliwością na ból, problemami ze snem, drgawkami, strukturalnymi wadami mózgu, cechami dysmorfii, problemami ze wzrokiem i autyzmem."},"cs":{"name":"ADNP-vázané mnohočetné vrozené anomálie, mentální retardace a poruchy autistického spektra","synonyms":["ADNP syndrome","ADNP-related Helsmoortel-Van der Aa syndrome","ADNP-related syndromic intellectual disability-autism spectrum disorder","HVDAS"]},"uk":{"name":"ADNP-синдром","synonyms":["Повязаний з ADNP синдром інтелектуальної недостатності - розлади спектра аутизму","Синдром Хелсмортела-Ван Дер Аа","HVDAS"],"definition":"A rare syndromic intellectual disability characterized by global developmental delay, gastrointestinal problems, hypotonia, delayed speech, behavioral and sleep problems, pain insensitivity, seizures, structural brain anomalies, dysmorphic features, visual problems, early tooth eruption and autistic features."},"zh":{"name":"ADNP综合征","synonyms":["ADNP相关综合征性智力障碍-自闭症"],"definition":"一种罕见的综合征性智障，其特征是全面发育延迟，胃肠道问题，肌张力低下，语言迟缓，行为和睡眠问题，疼痛不敏感，癫痫发作，大脑结构畸形，视觉问题，牙齿萌出过早和自闭症。"},"tr":{"name":"ADNP sendromu","synonyms":["HVDAS","Helsmoortel-Van Der Aa Sendromu","ADNP-ilişkili sendromik zihinsel yetersizlik-otizm spektrum bozukluğu"]}},"xrefs":[{"source":"OMIM","code":"615873","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014379","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4014538","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12931","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10083856","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"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":[],"genes":[{"symbol":"ADNP","name":"activity dependent neuroprotector homeobox","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24531329[PMID]","hgnc":"15766","ensembl":"ENSG00000101126","omim":"611386","loci":["20q13.13"]}],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-07-12","source":"29724491[PMID]_30107084[PMID]_25533962[PMID]_25057125[PMID]_24531329[PMID]_27054228[PMID]","terms":[{"hpo":"HP:0002167","label":"Abnormality of speech or vocalization","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000729","label":"Autistic behavior","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:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012760","label":"Reduced social responsiveness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000020","label":"Urinary incontinence","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0025160","label":"Abnormal temper tantrums","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012443","label":"Abnormality of brain morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001167","label":"Abnormality of finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000739","label":"Anxiety","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007018","label":"Attention deficit hyperactivity disorder","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012450","label":"Chronic constipation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000722","label":"Compulsive behaviors","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008947","label":"Floppy infant","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011343","label":"Moderate global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200136","label":"Oral-pharyngeal dysphagia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002591","label":"Polyphagia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011344","label":"Severe global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001597","label":"Abnormal nail morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001780","label":"Abnormality of toe","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006288","label":"Advanced eruption of teeth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000718","label":"Aggressive behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002835","label":"Aspiration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000483","label":"Astigmatism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001488","label":"Bilateral ptosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002059","label":"Cerebral atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100704","label":"Cerebral visual impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002376","label":"Developmental regression","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007042","label":"Focal white matter lesions","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011471","label":"Gastrostomy tube feeding in infancy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009890","label":"High anterior hairline","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000540","label":"Hypermetropia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002079","label":"Hypoplasia of the corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005216","label":"Impaired mastication","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008551","label":"Microtia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011342","label":"Mild global developmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001357","label":"Plagiocephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010442","label":"Polydactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000411","label":"Protruding ear","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002788","label":"Recurrent upper respiratory tract infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000010","label":"Recurrent urinary tract infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001852","label":"Sandal gap","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000954","label":"Single transverse palmar crease","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200006","label":"Slanting of the palpebral fissure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002360","label":"Sleep abnormality","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000319","label":"Smooth philtrum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000179","label":"Thick lower lip vermilion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000219","label":"Thin upper lip vermilion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000243","label":"Trigonocephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001956","label":"Truncal obesity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002013","label":"Vomiting","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006610","label":"Wide intermamillary distance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004691","label":"2-3 toe syndactyly","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000646","label":"Amblyopia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000248","label":"Brachycephaly","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0010055","label":"Broad hallux","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0011304","label":"Broad thumb","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000577","label":"Exotropia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0008935","label":"Generalized neonatal hypotonia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001007","label":"Hirsutism","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001276","label":"Hypertonia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000023","label":"Inguinal hernia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000612","label":"Iris coloboma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001118","label":"Juvenile cataract","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000637","label":"Long palpebral fissure","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002098","label":"Respiratory distress","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002209","label":"Sparse scalp hair","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001537","label":"Umbilical hernia","frequency":"Very rare (<4-1%)","criteria":null}]}}