{"orpha":2067,"name":"GAPO syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Growth delay-alopecia-pseudoanodontia-optic atrophy syndrome"],"definition":"A rare, genetic, multiple congenital anomalies syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2067/","orphanet_url":"https://www.orpha.net/en/disease/detail/2067","names":{"fr":{"name":"Syndrome GAPO","synonyms":["Syndrome de retard de croissance-alopécie-pseudoanodontie-atrophie optique"],"definition":"Syndrome rare d'anomalies congénitales multiples d'origine génétique, caractérisé par un retard de croissance, une alopécie, une pseudo-anodontie et des anomalies oculaires."},"de":{"name":"GAPO-Syndrom","synonyms":["Wachstumsverzögerung-Alopezie-Pseudoanodontie-Optikusatrophie-Syndrom"],"definition":"Ein genetisch bedingtes Fehlbildungssyndrom mit multiplen kongenitalen Anomalien, das durch Wachstumsverzögerung, Alopezie, Pseudoanodontie und okuläre Manifestationen gekennzeichnet ist."},"es":{"name":"Síndrome GAPO","definition":"Es un síndrome de múltiples anomalías congénitas, de base genética y poco frecuente, caracterizado por un retraso del crecimiento, alopecia, pseudo-anodoncia y manifestaciones oculares."},"it":{"name":"Sindrome GAPO","synonyms":["Ritardo di crescita - alopecia - pseudo-anodontia - atrofia ottica"],"definition":"Si tratta di una malattia genetica rara da anomalie congenite multiple, caratterizzata da ritardo della crescita, alopecia, pseudo-anodontia e sintomi oculari."},"nl":{"name":"GAPO-syndroom","synonyms":["Groeiachterstand - alopecie - pseudoanodontie - opticusatrofie-syndroom"],"definition":"Een zeldzaam, genetisch syndroom met multipele congenitale anomalieën, gekarakteriseerd door groeiretardatie, alopecie, pseudoanodontie en oculaire manifestaties."},"pt":{"name":"Síndrome GAPO","synonyms":["Síndrome de atraso do crescimento-alopecia-pseudo-anodontia-atrofia óptica"]},"pl":{"name":"Zespół GAPO","synonyms":["Opóźnienie wzrostu - wyłysienia - anodoncja rzekoma - atrofia nerwu wzrokowego"]},"cs":{"name":"GAPO-syndrom","synonyms":["Syndrom zahrnující poruchy růstu, alopecii, pseudoanodoncii a atrofii optiku"]},"uk":{"name":"Синдром GAPO","synonyms":["Синдром затримки росту - алопеції - псевдоанодонтії - атрофія зорового нерва"],"definition":"A rare, genetic, multiple congenital anomalies syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations."},"zh":{"name":"GAPO综合征","synonyms":["生长延迟-脱发-埋伏牙-视神经萎缩综合征"]},"tr":{"name":"GAPO sendromu","synonyms":["Büyüme gecikmesi-alopesi-psödoanodonti-optik atrofi sendromu"]}},"xrefs":[{"source":"OMIM","code":"230740","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD27.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"909165198"},{"source":"MONDO","code":"0009263","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535642","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0406723","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"400","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":79373,"name":"Ectodermal dysplasia syndrome","classifications":[147,156,187]},{"orpha":183580,"name":"Genetic malformation syndrome with odontal and/or periodontal component","classifications":[156]},{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":139042,"name":"Malformation syndrome with odontal and/or periodontal component","classifications":[147,197]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":522564,"name":"Syndromic genetic keratoconus","classifications":[156]},{"orpha":441434,"name":"Syndromic hereditary optic neuropathy","classifications":[156,189]},{"orpha":98623,"name":"Syndromic keratoconus","classifications":[189]}],"children":[],"genes":[{"symbol":"ANTXR1","name":"ANTXR cell adhesion molecule 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"23602711[PMID]","hgnc":"21014","ensembl":"ENSG00000169604","omim":"606410","loci":["2p13.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":60.0,"area":"Worldwide","status":"Validated","source":"30575274[PMID]_29304326[PMID]_30255493[PMID]_31448094[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001596","label":"Alopecia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000337","label":"Broad forehead","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000684","label":"Delayed eruption of teeth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002234","label":"Early balding","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000232","label":"Everted lower lip vermilion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000348","label":"High forehead","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000974","label":"Hyperextensible skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011800","label":"Midface retrusion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100540","label":"Palpebral edema","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007495","label":"Prematurely aged appearance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0045075","label":"Sparse eyebrow","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000653","label":"Sparse eyelashes","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009928","label":"Thick nasal alae","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009891","label":"Underdeveloped supraorbital ridges","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003312","label":"Abnormal form of the vertebral bodies","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000944","label":"Abnormal metaphysis morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000174","label":"Abnormal palate morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000765","label":"Abnormal thorax morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002644","label":"Abnormality of pelvic girdle bone morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100659","label":"Abnormality of the cerebral vasculature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000889","label":"Abnormality of the clavicle","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000501","label":"Glaucoma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000563","label":"Keratoconus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000303","label":"Mandibular prognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010609","label":"Skin tags","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001537","label":"Umbilical hernia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000141","label":"Amenorrhea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001555","label":"Asymmetry of the thorax","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002621","label":"Atherosclerosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000453","label":"Choanal atresia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004331","label":"Decreased skull ossification","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100607","label":"Dysmenorrhea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001028","label":"Hemangioma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000135","label":"Hypogonadism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001053","label":"Hypopigmented skin patches","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002516","label":"Increased intracranial pressure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000787","label":"Nephrolithiasis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000798","label":"Oligozoospermia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Occasional (29-5%)","criteria":null}]}}