{"orpha":2744,"name":"Horizontal gaze palsy with progressive scoliosis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["HGPPS","Progressive external ophthalmoplegia and scoliosis"],"definition":"Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare congenital autosomal recessive disease, presenting in children and adolescents, and characterized by progressive scoliosis along with the absence of conjugate horizontal eye movements and associated with failure of the somatosensory and corticospinal neuronal tracts to decussate in the medulla.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2744/","orphanet_url":"https://www.orpha.net/en/disease/detail/2744","names":{"fr":{"name":"Paralysie horizontale du regard avec scoliose progressive","synonyms":["HGPPS","Ophtalmoplégie externe progressive et scoliose"],"definition":"Maladie congénitale autosomique récessive, survenant chez les enfants et les adolescents, se caractérisant par une scoliose progressive et une paralysie du regard conjugué horizontal, associées à des vois somatosensorielles et corticospinales qui ne décussent pas dans la moelle."},"de":{"name":"Horizontale Blicklähmung mit progredienter Skoliose","synonyms":["HGPPS","Progressive externe Ophthalmoplegie und Skoliose"],"definition":"Die horizontale Blicklähmung mit progredienter Skoliose (HGPPS) ist eine seltene, autosomal-rezessiv vererbte Krankheit. Sie wird bei Kindern und Adoleszenten manifest und ist gekennzeichnet durch progrediente Skoliose mit fehlender Kopplung der horizontalen Augenbewegungen. Eine Kreuzung der somatosensorischen und kortikospinalen Trakte in der Medulla fehlt."},"es":{"name":"Parálisis de la mirada horizontal con escoliosis progresiva","synonyms":["Oftalmoplejía externa progresiva y escoliosis","HGPPS"],"definition":"La parálisis de la mirada horizontal con escoliosis progresiva (HGPPS) es una enfermedad congénita autosómica recesiva poco frecuente, que se presenta en niños y adolescentes, y que se caracteriza por una escoliosis progresiva con ausencia de movimientos oculares horizontales conjugados, asociados a un fallo en los tractos neuronales corticoespinal y somatosensorial que decusan en la médula."},"it":{"name":"Paralisi dello sguardo orizzontale con scoliosi progressiva","synonyms":["HGPPS","Oftalmoplegia esterna progressiva e scoliosi"],"definition":"La paralisi orizzontale dello sguardo con scoliosi progressiva (HGPPS) è una malattia congenita rara, autosomica recessiva, che insorge nei bambini e negli adolescenti, ed è caratterizzata da scoliosi progressiva, in associazione con l'assenza dei movimenti oculari orizzontali coniugati e alla mancata decussazione dei tratti neuronali somatosensoriali e corticospinali nel midollo."},"nl":{"name":"Horizontale blikparese met progressieve scoliose","synonyms":["HGPPS","Horizontale blikverlamming met progressieve scoliose","Progressieve externe oftalmoplegie en scoliose"],"definition":"Horizontale blikparese met progressieve scoliose (HGPPS) is een zeldzame, congenitale, autosomaal recessieve ziekte, die zich manifesteert bij kinderen en adolescenten, en die gekarakteriseerd wordt door progressieve scoliose en afwezigheid van geconjugeerde horizontale oogbewegingen, geassocieerd met gebrek aan kruising van de somatosensorische en corticospinale banen in de medulla oblongata."},"pt":{"name":"Paralisia do olhar horizontal com escoliose progressiva","synonyms":["Oftalmoplegia horizontal com escoliose progressiva","Oftalmoplegia progressiva externa-escoliose"],"definition":"A paralisia do olhar horizontal com escoliose progressiva (HGPPS) é uma doença autossómica recessiva congénita rara, que surge em crianças e adolescentes e é caracterizada por escoliose progressiva juntamente com a ausência de movimentos oculares horizontais conjugados e associada à falha de decussação dos tratos neuronais somatossensoriais e corticoespinhais na medula."},"pl":{"name":"Porażenie ruchów poziomych z postępującą skoliozą","synonyms":["Postępująca zewnętrzna oftalmoplegia i skolioza","HGPPS"]},"cs":{"name":"Progresivní externí oftalmoplegie se skoliózou","synonyms":["HGPPS","Vrozená obrna horizontálního pohledu s progresivní skoliózou"]},"uk":{"name":"Параліч горизонтального погляду з прогресуючим сколіозом","synonyms":["HGPPS","Прогресуюча зовнішня офтальмоплегія та сколіоз"],"definition":"Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare congenital autosomal recessive disease, presenting in children and adolescents, and characterized by progressive scoliosis along with the absence of conjugate horizontal eye movements and associated with failure of the somatosensory and corticospinal neuronal tracts to decussate in the medulla."},"zh":{"name":"水平凝视麻痹伴进行性脊柱侧凸","synonyms":["进行性眼外肌麻痹和脊柱侧凸"]},"tr":{"name":"İlerleyici skolyozlu horizontal bakış felci","synonyms":["HGPPS","ilerleyici eksternal oftalmopleji ve skolyoz"]}},"xrefs":[{"source":"OMIM","code":"607313","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"617542","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"H49.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"9C83.00","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"226403142"},{"source":"MONDO","code":"0011810","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1846496","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12682","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":50817,"name":"Duane anomaly-myopathy-scoliosis syndrome","status":"inactive"}],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":93454,"name":"Dysostosis with predominant vertebral and costal involvement","classifications":[147,156,199]},{"orpha":730696,"name":"Genetic syndrome with a brainstem malformation as a major feature","classifications":[156]},{"orpha":269564,"name":"Genetic syndrome with a central nervous system malformation as a major feature","classifications":[156]},{"orpha":729519,"name":"Syndrome with a brainstem malformation as a major feature","classifications":[147,181]},{"orpha":98683,"name":"Syndromic disorder with strabismus","classifications":[189]},{"orpha":522520,"name":"Syndromic genetic disorder with strabismus","classifications":[156]}],"children":[],"genes":[{"symbol":"DCC","name":"DCC netrin 1 receptor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"28250456[PMID]","hgnc":"2701","ensembl":"ENSG00000187323","omim":"120470","loci":["18q21.2"]},{"symbol":"ROBO3","name":"roundabout guidance receptor 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"13433","ensembl":"ENSG00000154134","omim":"608630","loci":["11q24.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0007817","label":"Horizontal supranuclear gaze palsy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009921","label":"Duane anomaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003198","label":"Myopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003508","label":"Proportionate short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Occasional (29-5%)","criteria":null}]}}