{"orpha":54595,"name":"Craniopharyngioma","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare neoplastic/endocrine disease characterized by benign slow growing tumors of low-grade histological malignancy (WHO grade 1) that are located within the sellar and parasellar regions of the skull base.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-54595/","orphanet_url":"https://www.orpha.net/en/disease/detail/54595","names":{"fr":{"name":"Craniopharyngiome","definition":"Maladie néoplasique/endocrinienne rare caractérisée par des tumeurs bénignes à croissance lente de faible potentiel de malignité selon la classification histologique (grade&nbsp;1 de l'OMS) situées dans les régions sellaires et parasellaires de la base du crâne."},"de":{"name":"Kraniopharyngeom","definition":"Eine seltene neoplastische/endokrine Erkrankung, die durch gutartige, langsam wachsende Tumoren mit geringer histologischer Malignität (WHO-Grad 1) gekennzeichnet ist, die in der Sella- und Parasella-Region der Schädelbasis lokalisiert sind."},"es":{"name":"Craneofaringioma","definition":"Es una enfermedad neoplásica/endocrina poco frecuente caracterizada por tumores benignos de crecimiento lento con un bajo grado de malignidad histológica (grado 1 de la OMS) que se localizan en la región selar y paraselar de la base del cráneo."},"it":{"name":"Craniofaringioma"},"nl":{"name":"Craniofaryngioom","definition":"Een zeldzame neoplastische/endocriene aandoening, gekenmerkt door goedaardige, traag groeiende tumoren met laaggradige histologische maligniteit (WHO graad 1) die zijn gesitueerd in sellaire en parasellaire delen van de schedelbasis."},"pt":{"name":"Craniofaringioma","definition":"Doença neoplásica/endócrina rara caracterizada por tumores benignos de crescimento lento, de malignidade histológica de baixo grau (grau 1 da OMS), localizados nas regiões selar e parasselar da base do crânio."},"pl":{"name":"Czaszkogardlak"},"cs":{"name":"Kraniofaryngeom"},"uk":{"name":"Краніофарингіома","definition":"A rare neoplastic/endocrine disease characterized by benign slow growing tumors of low-grade histological malignancy (WHO grade 1) that are located within the sellar and parasellar regions of the skull base."},"zh":{"name":"颅咽管瘤"},"tr":{"name":"Kraniyofarenjiyom"}},"xrefs":[{"source":"ICD-10","code":"D44.4","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"2F9A","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018907","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D003397","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0010276","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10486","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10011318","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":156643,"name":"Genetic endocrine growth disease","classifications":[156]},{"orpha":95503,"name":"Pituitary hormone deficiency of tumoral origin","classifications":[193]},{"orpha":90692,"name":"Rare endocrine growth disease","classifications":[193]},{"orpha":98062,"name":"Rare nervous system tumor","classifications":[181,202]}],"children":[],"genes":[{"symbol":"BRAF","name":"B-Raf proto-oncogene, serine/threonine kinase","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"24413733[PMID]","hgnc":"1097","ensembl":"ENSG00000157764","omim":"164757","loci":["7q34"]},{"symbol":"CTNNB1","name":"catenin beta 1","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"24413733[PMID]","hgnc":"2514","ensembl":"ENSG00000168036","omim":"116806","loci":["3p22.1"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["All ages"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":1.0,"area":"Worldwide","status":"Not yet validated","source":"17825241[PMID]_22969141[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":2.0,"area":"Europe","status":"Validated","source":"17425791[PMID]_European Medicines Agency 2015[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.19,"area":"United States","status":"Validated","source":"Central Brain Tumor OTHERistry of the United States 2010-2014[OTHER]_29117289[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.17,"area":"Sweden","status":"Validated","source":"25375987[PMID]_Swedish national Health OTHERistries 1987-2011[OTHER]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-03-22","source":"16543382[PMID]_28073908[PMID]_27258775[PMID]_26498373[PMID]_26563980[PMID]_25884258[PMID]_25375987[PMID]_25370812[PMID]_25434950[PMID]_25077898[PMID]_24571758[PMID]_24507865[PMID]_24413733[PMID]_23771923[PMID]_23633208[PMID]_23533238[PMID]_22969141[PMID]_22794322[PMID]_22319039[PMID]_21508127[PMID]_21255479[PMID]_20332250[PMID]_19569961[PMID]_18252012[PMID]_18154027[PMID]_17941498[PMID]_17639891[PMID]_17469176[PMID]_15845929[PMID]_15269087[PMID]_16206977[PMID]_12659393[PMID]_12495299[PMID]_12466115[PMID]_12134929[PMID]_12134898[PMID]_12050243[PMID]_10599681[PMID]_8869189[PMID]_7568823[PMID]_7616262[PMID]_7773950[PMID]_7852493[PMID]_8090885[PMID]_2392228[PMID]_2200325[PMID]_2894566[PMID]_2823728[PMID]_3300946[PMID]_6854390[PMID]_6293388[PMID]_7277671[PMID]_221807[PMID]_581156[PMID]_953588[PMID]_776317[PMID]_1242169[PMID]_1078580[PMID]_4414783[PMID]_4213157[PMID]_4542350[PMID]_5013542[PMID]_4103497[PMID]_5553578[PMID]_4308176[PMID]_5676653[PMID]_5296899[PMID]_5949228[PMID]_5842310[PMID]","terms":[{"hpo":"HP:0012286","label":"Abnormal hypothalamus morphology","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0002514","label":"Cerebral calcification","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012505","label":"Enlarged pituitary gland","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0040075","label":"Hypopituitarism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010576","label":"Intracranial cystic lesion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011750","label":"Neoplasm of the anterior pituitary","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030588","label":"Abnormal visual field test","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030521","label":"Bitemporal hemianopia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011734","label":"Central adrenal insufficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000863","label":"Central diabetes insipidus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001262","label":"Excessive daytime somnolence","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002315","label":"Headache","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000135","label":"Hypogonadism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000044","label":"Hypogonadotropic hypogonadism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000870","label":"Increased circulating prolactin concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002017","label":"Nausea and vomiting","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001513","label":"Obesity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001085","label":"Papilledema","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008245","label":"Pituitary hypothyroidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007987","label":"Progressive visual field defects","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002360","label":"Sleep abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007924","label":"Slow decrease in visual acuity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002637","label":"Cerebral ischemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000823","label":"Delayed puberty","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:0000238","label":"Hydrocephalus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002516","label":"Increased intracranial pressure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002659","label":"Increased susceptibility to fractures","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002591","label":"Polyphagia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003508","label":"Proportionate short stature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010535","label":"Sleep apnea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005978","label":"Type II diabetes mellitus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010939","label":"Abnormal nasal bone morphology","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0430000","label":"Abnormality of the frontal bone","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001259","label":"Coma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001658","label":"Myocardial infarction","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0008897","label":"Postnatal growth retardation","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002719","label":"Recurrent infections","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001117","label":"Sudden loss of visual acuity","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002321","label":"Vertigo","frequency":"Very rare (<4-1%)","criteria":null}]}}