{"orpha":90695,"name":"Non-acquired panhypopituitarism","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Genetic panhypopituitarism"],"definition":"A rare genetic pituitary disease characterized by variable deficiency of all hormones produced in the anterior lobe of the pituitary gland. Clinical manifestations include hypothyroidism, hypogonadism, growth retardation and short stature, and secondary adrenal insufficiency. Age of onset is variable. Signs and symptoms usually develop gradually, and loss of the different hormones is often sequential.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-90695/","orphanet_url":"https://www.orpha.net/en/disease/detail/90695","names":{"fr":{"name":"Panhypopituitarisme non acquis","synonyms":["Panhypopituitarisme d'origine génétique"],"definition":"Maladie hypophysaire génétique rare caractérisée par une déficience variable de toutes les hormones produites dans le lobe antérieur de l'hypophyse. Les signes cliniques incluent l'hypothyroïdie, l'hypogonadisme, le retard de croissance et la petite taille, ainsi qu'une insuffisance surrénale secondaire. L'âge d'apparition est variable. Les signes cliniques et les symptômes se développent généralement de manière progressive, et le déficit des différentes hormones est souvent séquentiel."},"de":{"name":"Panhypopituitarismus, genetisch bedingter","definition":"Eine seltene genetische Hypophysenerkrankung, die durch einen variablen Mangel an allen im Hypophysenvorderlappen produzierten Hormonen gekennzeichnet ist. Zu den klinischen Manifestationen gehören Hypothyreose, Hypogonadismus, Wachstumsverzögerung und Kleinwuchs sowie sekundäre Nebenniereninsuffizienz. Das Alter des Auftretens ist variabel. Die Anzeichen und Symptome entwickeln sich in der Regel allmählich, und der Verlust der verschiedenen Hormone erfolgt häufig nacheinander."},"es":{"name":"Panhipopituitarismo no adquirido","synonyms":["Panhipopituitarismo genético"],"definition":"Es una enfermedad hipofisaria genética poco frecuente caracterizada por una deficiencia variable de todas las hormonas producidas en el lóbulo anterior de la hipófisis. Las manifestaciones clínicas incluyen hipotiroidismo, hipogonadismo, retraso del crecimiento y talla baja e insuficiencia suprarrenal secundaria. La edad de presentación es variable. Por lo general, los signos y síntomas se desarrollan gradualmente y la pérdida de las diferentes hormonas suele ocurrir de manera secuencial."},"it":{"name":"Panipopituitarismo non acquisito","definition":"Si tratta di una malattia genetica rara dell'ipofisi, caratterizzata dal difetto variabile di tutti gli ormoni prodotti nel lobo anteriore dell'ipofisi. I segni clinici comprendono l'ipotiroidismo, l'ipogonadismo, il ritardo della crescita e la bassa statura e l'insufficienza secondaria del surrene. L'età d'esordio è variabile. I segni clinici in genere si manifestano gradualmente, e la perdita dei diversi ormoni spesso è sequenziale."},"nl":{"name":"Niet-verworven panhypopituïtarisme","synonyms":["Genetisch panhypopituïtarisme"],"definition":"Een zeldzame, genetische aandoening van hypofyse, gekarakteriseerd door variabele deficiëntie van alle hormonen die worden geproduceerd in de adenohypofyse. Klinische manifestaties zijn onder meer hypothyreoïdie, hypogonadisme, groeiretardatie en kleine gestalte, alsook secundaire bijnierschorsinsufficiëntie. De aanvangsleeftijd is variabel. Verschijnselen en symptomen ontwikkelen meestal gradueel, en verlies van de verschillende hormonen gebeurt vaak sequentieel."},"pt":{"name":"Pan-hipopituitarismo"},"pl":{"name":"Wielohormonalna niedoczynność przysadki","synonyms":["Genetic panhypopituitarism"]},"cs":{"name":"Panhypopituitarismus","synonyms":["Genetic panhypopituitarism"]},"uk":{"name":"Ненабутий пангіпопітуїтаризм","synonyms":["Генетичний пангіпопітуїтаризм"],"definition":"A rare genetic pituitary disease characterized by variable deficiency of all hormones produced in the anterior lobe of the pituitary gland. Clinical manifestations include hypothyroidism, hypogonadism, growth retardation and short stature, and secondary adrenal insufficiency. Age of onset is variable. Signs and symptoms usually develop gradually, and loss of the different hormones is often sequential."},"zh":{"name":"非获得性全垂体功能减退","synonyms":["遗传性全垂体功能减退"]},"tr":{"name":"Edinsel olmayan panhipopituitarizm","synonyms":["Genetik panhipopituitarizm"]}},"xrefs":[{"source":"OMIM","code":"262600","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"312000","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E23.0","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"5A61.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1576287890"},{"source":"MONDO","code":"0019591","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"19591","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680191","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10033662","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":181390,"name":"Endocrinopathy with congenital hypogonadotropic hypogonadism as a major feature","classifications":[156,193,201,205]},{"orpha":178025,"name":"Non-acquired combined pituitary hormone deficiencies without extrapituitary malformations","classifications":[156,193]}],"children":[],"genes":[{"symbol":"SOX3","name":"SRY-box transcription factor 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"15800844[PMID]","hgnc":"11199","ensembl":"ENSG00000134595","omim":"313430","loci":["Xq27.1"]},{"symbol":"PROP1","name":"PROP paired-like homeobox 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"9455","ensembl":"ENSG00000175325","omim":"601538","loci":["5q35.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive","X-linked recessive"],"onset":["All ages"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":41.0,"area":"Worldwide","status":"Validated","source":"9768691[PMID]_15531542[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"9768691[PMID]_15531542[PMID]_ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-07-20","source":"9462743[PMID]_15800844[PMID]_26733480[PMID]_25955177[PMID]_16735499[PMID]_20685856[PMID]_18728160[PMID]_8768831[PMID]_10835633[PMID]","terms":[{"hpo":"HP:0040075","label":"Hypopituitarism","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0040086","label":"Abnormal prolactin level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009888","label":"Abnormality of secondary sexual hair","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000141","label":"Amenorrhea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010627","label":"Anterior pituitary hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010311","label":"Aplasia/Hypoplasia of the breasts","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002920","label":"Decreased circulating ACTH level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000824","label":"Decreased response to growth hormone stimulation test","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008734","label":"Decreased testicular size","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000457","label":"Depressed nasal ridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001943","label":"Hypoglycemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000044","label":"Hypogonadotropic hypogonadism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002615","label":"Hypotension","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000789","label":"Infertility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008245","label":"Pituitary hypothyroidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008187","label":"Absence of secondary sex characteristics","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002019","label":"Constipation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000823","label":"Delayed puberty","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000938","label":"Osteopenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005625","label":"Osteoporosis of vertebrae","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000839","label":"Pituitary dwarfism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012731","label":"Ectopic anterior pituitary gland","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0011755","label":"Ectopic posterior pituitary","frequency":"Very rare (<4-1%)","criteria":null}]}}