{"orpha":589905,"name":"PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Chung-Jansen syndrome","DIDOD"],"definition":"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by variable developmental delay and intellectual disability, overweight or obesity, behavioral abnormalities (including hyperactivity, aggressive behavior, anxiety, mood disorder, or autistic features), and facial dysmorphism (such as high forehead, full eyebrows and/or synophrys, upturned nose, and fleshy ears, among others). Additional reported manifestations are hypotonia, ocular anomalies, anomalies of the fingers and toes, joint hypermobility, or abnormal pigmentation. Brain imaging may show mild nonspecific abnormalities.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-589905/","orphanet_url":"https://www.orpha.net/en/disease/detail/589905","names":{"fr":{"name":"Syndrome de troubles de comportement-déficience intellectuelle-obésité-dysmorphie associé à PHIP","definition":"Anomalies congénitales multiples/syndrome dysmorphique, caractérisé par un retard de développement et une déficience intellectuelle variables, un surpoids ou une obésité, des troubles comportementaux (y compris : hyperactivité, crises d'agressivité, anxiété, troubles de l'humeur ou troubles du spectre autistique) et une dysmorphie faciale (à savoir, front haut, sourcils fournis et/ou synophridie, nez retroussé et oreilles charnues, entre autres). Les autres manifestations rapportées sont une hypotonie, des anomalies oculaires, des anomalies malformatives des doigts et des orteils, une hypermobilité articulaire ou des troubles de la pigmentation. De légères anomalies non spécifiques peuvent s'observer à l'imagerie cérébrale."},"de":{"name":"PHIP-assoziierte Verhaltensstörung-Intelligenzminderung-Adipositas-Dysmorphie-Syndrome","synonyms":["Chung-Jansen-Syndrom"],"definition":"Ein seltenes genetisch bedingtes Syndrom mit multiplen kongenitalen Anomalien/Dysmorphien, das durch variable Entwicklungsverzögerung und Intelligenzminderung, Übergewicht oder Adipositas, Verhaltensauffälligkeiten (einschließlich Hyperaktivität, aggressivem Verhalten, Angstzuständen, Stimmungsstörungen oder autistischen Zügen) und Gesichtsdysmorphien (u. a. hohe Stirn, volle Augenbrauen und/oder Synophrys, hochgezogene Nase und fleischige Ohren) gekennzeichnet ist. Darüber hinaus werden Hypotonie, Augenanomalien, Anomalien der Finger und Zehen, Gelenkhypermobilität oder abnorme Pigmentierung berichtet. Die Bildgebung des Gehirns kann leichte, unspezifische Anomalien zeigen."},"es":{"name":"Síndrome de trastornos de conducta-discapacidad intelectual-obesidad-rasgos dismórficos asociado al gen PHIP","synonyms":["Síndrome de Chung-Jansen"],"definition":"Es un síndrome de base genética poco frecuente con múltiples anomalías congénitas/ dismorfia que se caracteriza por retraso del desarrollo y discapacidad intelectual variables, sobrepeso u obesidad, trastornos de conducta (incluyendo hiperactividad, conducta agresiva, ansiedad, trastorno del estado de ánimo o rasgos autistas) y dismorfia facial (frente alta, cejas pobladas y/o sinofridia, nariz con la punta elevada y orejas carnosas, entre otros). Otras manifestaciones descritas son hipotonía, anomalías oculares, anomalías de los dedos de las manos y de los pies, hipermovilidad articular o pigmentación anómala. La neuroimagen puede mostrar anomalías leves e inespecíficas."},"it":{"name":"Sindrome problemi comportamentali, disabilità intellettiva, obesità, dismorfismi correlata a PHIP","synonyms":["Sindrome di Chung-Jansen"],"definition":"Si tratta di una malattia genetica rara da anomalie/dismorfismi congeniti multipli, caratterizzata da ritardo dello sviluppo e disabilità intellettiva di gravità variabile, sovrappeso o obesità, anomalie comportamentali (iperattività, aggressività, ansia, disturbi dell'umore, tratti autistici) e dismorfismi facciali (fronte alta, sopracciglia folte e/o sinofria, naso rivolto verso l'alto, orecchie carnose). I pazienti possono presentare anche ipotonia, anomalie oculari, anomalie delle dita delle mani e dei piedi, ipermobilità articolare e difetti della pigmentazione. Le neuroimmagini possono evidenziare lievi anomalie aspecifiche."},"nl":{"name":"PHIP-gerelateerd gedragsproblemen - intellectuele achterstand - obesitas - dysmorfe kenmerken-syndroom","synonyms":["Syndroom van Chung-Jansen"],"definition":"Een zeldzaam, genetisch syndroom met multipele congenitale anomalieën/dysmorfie, gekenmerkt door variabele ontwikkelingsachterstand en intellectuele achterstand, overgewicht of obesitas, gedragsafwijkingen (waaronder hyperactiviteit, agressief gedrag, angst, stemmingsstoornis, of autistische kenmerken), en faciale dysmorfie (zoals onder meer hoog voorhoofd, volle wenkbrauwen en/of synophrys, wipneus, en vlezige oren). Bijkomend gerapporteerde manifestaties zijn hypotonie, ooganomalieën, anomalieën van vingers en tenen, gewrichtshypermobiliteit, of abnormale pigmentatie. Beeldvorming van hersenen toont mogelijk milde aspecifieke afwijkingen."},"pt":{"name":"Síndrome de perturbação comportamental-perturbação do desenvolvimento intelectual-obesidade-dismorfia PHIP-relacionada","synonyms":["DIDOD","Síndrome Chung-Jansen"],"definition":"Anomalia congénita / síndrome dismórfica genética rara caracterizada por atraso de desenvolvimento variável e perturbação do desenvolvimento intelectual, aumento do peso ou obesidade, anomalias comportamentais (incluindo hiperatividade, comportamento agressivo, ansiedade, transtorno de humor ou características do espectro do autismo) e dismorfismo facial (ex: fronte alta, sobrancelhas grossas e / ou sinófris, nariz arrebitado e orelhas volumosas, entre outras). As manifestações adicionais relatadas incluem hipotonia, anomalias oculares, anomalias dos dedos das mãos e dos pés, hipermobilidade articular ou pigmentação anómala. A imagiologia cerebral pode mostrar anomalias inespecíficas leves."},"pl":{"name":"Zespół dysmorficzny z otyłością, niepełnosprawnością intelektualną i problemami behawioralnymi związany z PHIP","synonyms":["Zespół Chung i Jansen"]},"cs":{"name":"Syndrom zahrnující problémy s chováním související s PHIP, mentální retardaci, obezitu a dysmorfické rysy","synonyms":["Chung-Jansen syndrome","DIDOD"]},"uk":{"name":"PHIP-повязаний синдром поведінкових проблем-інтелектуальної недостатності-ожиріння- дисморфічних особливостей","synonyms":["Синдром Чанг-Янсена","DIDOD"],"definition":"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by variable developmental delay and intellectual disability, overweight or obesity, behavioral abnormalities (including hyperactivity, aggressive behavior, anxiety, mood disorder, or autistic features), and facial dysmorphism (such as high forehead, full eyebrows and/or synophrys, upturned nose, and fleshy ears, among others). Additional reported manifestations are hypotonia, ocular anomalies, anomalies of the fingers and toes, joint hypermobility, or abnormal pigmentation. Brain imaging may show mild nonspecific abnormalities."},"zh":{"name":"PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome","synonyms":["Chung-Jansen syndrome"]},"tr":{"name":"PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome","synonyms":["Chung-Jansen syndrome"]}},"xrefs":[{"source":"OMIM","code":"617991","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2F.1Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0035133","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4693860","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10090066","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone 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]},{"orpha":98033,"name":"Rare neurologic disease with psychiatric involvement","classifications":[181]},{"orpha":240371,"name":"Syndromic obesity","classifications":[147,156,193]}],"children":[],"genes":[{"symbol":"PHIP","name":"PHIP subunit of CUL4-Ring ligase complex","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"29209020[PMID]","hgnc":"15673","ensembl":"ENSG00000146247","omim":"612870","loci":["6q14.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":35.0,"area":"Worldwide","status":"Validated","source":"27900362[PMID]_29209020[PMID]_31167805[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"27900362[PMID]_29209020[PMID]_31167805[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2022-10-13","source":"31167805[PMID]_29209020[PMID]","terms":[{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000400","label":"Macrotia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012758","label":"Neurodevelopmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000539","label":"Abnormality of refraction","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007018","label":"Attention deficit hyperactivity disorder","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000455","label":"Broad nasal tip","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000957","label":"Cafe-au-lait spot","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008872","label":"Feeding difficulties in infancy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000348","label":"High forehead","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000540","label":"Hypermetropia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100710","label":"Impulsivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004324","label":"Increased body weight","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000664","label":"Synophrys","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001182","label":"Tapered finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000233","label":"Thin vermilion border","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004691","label":"2-3 toe syndactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007874","label":"Almond-shaped palpebral fissure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002019","label":"Constipation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002761","label":"Generalized joint hypermobility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002378","label":"Hand tremor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001319","label":"Neonatal hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000403","label":"Recurrent otitis media","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002788","label":"Recurrent upper respiratory tract infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002360","label":"Sleep abnormality","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000582","label":"Upslanted palpebral fissure","frequency":"Occasional (29-5%)","criteria":null}]}}