{"orpha":2896,"name":"Pitt-Hopkins syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare multiple congenital anomalies syndrome characterized by the association of intellectual deficit, characteristic facial morphology and problems of abnormal and irregular breathing.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2896/","orphanet_url":"https://www.orpha.net/en/disease/detail/2896","names":{"fr":{"name":"Syndrome de Pitt-Hopkins","definition":"Syndrome rare d'anomalies congénitales multiples caractérisé par l'association d'une déficience intellectuelle, d'une morphologie faciale caractéristique et des anomalies du rythme respiratoire."},"de":{"name":"Pitt-Hopkins-Syndrom","definition":"Das Pitt-Hopkins-Syndrom (PHS) ist gekennzeichnet durch das Zusammentreffen von Intelligenzminderung, charakteristischen fazialen Dysmorphien und abnormer und unregelmäßiger Atmung."},"es":{"name":"Síndrome de Pitt Hopkins","definition":"Es un síndrome de múltiples anomalías congénitas poco frecuentes caracterizado por la asociación de discapacidad intelectual, morfología facial característica y un patrón de respiración anómalo e irregular."},"it":{"name":"Sindrome di Pitt-Hopkins","definition":"Si tratta di una malattia rara da anomalie congenite multiple, caratterizzata da deficit cognitivo, dismorfismi facciali caratteristici e respiro anomalo e irregolare."},"nl":{"name":"Syndroom van Pitt-Hopkins","definition":"Een zeldzaam syndroom met multipele congenitale anomalieën, gekarakteriseerd door de associatie van intellectuele achterstand, typische faciale morfologie en problemen van abnormale en onregelmatige ademhaling."},"pt":{"name":"Síndrome Pitt-Hopkins","definition":"O síndrome de Pitt-Hopkins (PHS) é caracterizado pela associação de défice cognitivo, dismorfismo facial tíipico e problemas de respiração anormal e irregular."},"pl":{"name":"Zespół Pitta i Hopkinsa"},"cs":{"name":"Pittův-Hopkinsův syndrom","synonyms":["Pitt-Hopkinsův syndrom"]},"uk":{"name":"Синдром Пітта-Хопкінса","definition":"A rare multiple congenital anomalies syndrome characterized by the association of intellectual deficit, characteristic facial morphology and problems of abnormal and irregular breathing."},"zh":{"name":"皮特-霍普金斯综合征"},"tr":{"name":"Pitt-Hopkins sendromu"}},"xrefs":[{"source":"OMIM","code":"610954","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":"index","validated":true,"icd11_uri":"2040786134"},{"source":"MONDO","code":"0012589","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537403","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1970431","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4372","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":166472,"name":"Monogenic disease with epilepsy","classifications":[156,181]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]}],"children":[],"genes":[{"symbol":"TCF4","name":"transcription factor 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"22934316[PMID]","hgnc":"11634","ensembl":"ENSG00000196628","omim":"602272","loci":["18q21.2"]},{"symbol":"TCF4","name":"transcription factor 4","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"30450687[PMID]","hgnc":"11634","ensembl":"ENSG00000196628","omim":"602272","loci":["18q21.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 1 000 000","value":0.0,"area":"Europe","status":"Validated","source":"ORPHANET_[EXPERT]_30677142[PMID]"},{"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":"2018-01-08","source":"18222743[PMID]_21671391[PMID]_18728071[PMID]_22045651[PMID]_16531728[PMID]_18781613[PMID]_728011[PMID]","terms":[{"hpo":"HP:0011039","label":"Abnormal helix morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000174","label":"Abnormal palate morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002381","label":"Aphasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000483","label":"Astigmatism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011300","label":"Broad fingertip","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000280","label":"Coarse facial features","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002019","label":"Constipation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000490","label":"Deeply set eye","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010529","label":"Echolalia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100633","label":"Esophagitis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006352","label":"Failure of eruption of permanent teeth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0040019","label":"Finger clinodactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000293","label":"Full cheeks","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002036","label":"Hiatus hernia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002342","label":"Intellectual disability, moderate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002300","label":"Mutism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000341","label":"Narrow forehead","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011833","label":"Overhanging nasal tip","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001763","label":"Pes planus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008081","label":"Pes valgus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000426","label":"Prominent nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010743","label":"Short metatarsal","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000322","label":"Short philtrum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000954","label":"Single transverse palmar crease","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002360","label":"Sleep abnormality","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200055","label":"Small hand","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001328","label":"Specific learning disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001182","label":"Tapered finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012471","label":"Thick vermilion border","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000391","label":"Thickened helices","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000692","label":"Tooth malposition","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000582","label":"Upslanted palpebral fissure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000154","label":"Wide mouth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002793","label":"Abnormal pattern of respiration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001344","label":"Absent speech","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001063","label":"Acrocyanosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007370","label":"Aplasia/Hypoplasia of the corpus callosum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002066","label":"Gait ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002883","label":"Hyperventilation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001786","label":"Narrow foot","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010535","label":"Sleep apnea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002472","label":"Small cerebral cortex","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000451","label":"Triangular nasal tip","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000718","label":"Aggressive behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000729","label":"Autistic behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040082","label":"Happy demeanor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001053","label":"Hypopigmented skin patches","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000054","label":"Micropenis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008897","label":"Postnatal growth retardation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100716","label":"Self-injurious behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002558","label":"Supernumerary nipple","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002251","label":"Aganglionic megacolon","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012189","label":"Hodgkin lymphoma","frequency":"Very rare (<4-1%)","criteria":null}]}}