{"orpha":95494,"name":"Combined pituitary hormone deficiencies, genetic forms","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Familial congenital hypopituitarism","Multiple pituitary hormone deficiencies, genetic forms"],"definition":"Congenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies. Congenital hypopituitarism is rare compared with the high incidence of hypopituitarism induced by pituitary adenomas, transsphenoidal surgery or radiotherapy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-95494/","orphanet_url":"https://www.orpha.net/en/disease/detail/95494","names":{"fr":{"name":"Déficits hypohysaires multiples de cause génétique identifée","synonyms":["Déficits hypohysaires combinés de cause génétique identifée","Hypopituitarisme congenital familial"],"definition":"Hypopituitarisme congénital caractérisé par un déficit multiple en hormones hypophysaires, notamment en somatotrophes, thyrotrophes, lactotrophes, corticotrophes ou gonadotrophes. L'hypopituitarisme congénital est rare par rapport à l'incidence élevée de l'hypopituitarisme induit par des adénomes hypophysaires, la chirurgie transsphénoïdale ou la radiothérapie."},"de":{"name":"Hypophysenhormon-Mangel, kombinierter, genetisch bedingte Formen","synonyms":["Hypophysenhormon-Mangel, multipler, genetisch bedingte Formen","Hypophysenhormon-Mangel, multipler, genetische Formen","Hypopituitarismus, familiärer","Hypopituitarismus, familiärer kongenitaler"],"definition":"Der kongenitale Hypopituitarismus ist durch einen mehrfachen Mangel an Hypophysenhormonen gekennzeichnet, einschließlich eines Mangels an somatotropen, thyreotropen, laktotropen, kortikotropen oder gonadotropen Hormonen. Der kongenitale Hypopituitarismus ist selten, verglichen mit der hohen Inzidenz des Hypopituitarismus, der durch Hypophysenadenome, transsphenoidale Operationen oder Strahlentherapie verursacht wird."},"es":{"name":"Deficiencia combinada de hormonas hipofisarias de causa genética","definition":"Es un trastorno caracterizado por una deficiencia múltiple de hormonas hipofisarias, incluyendo la somatotropina, tirotropina, lactotropina, corticotropina o gonadotropina. El hipopituitarismo congénito es infrecuente en comparación con la elevada incidencia del hipopituitarismo inducido por adenomas hipofisarios, la cirugía transesfenoidal o la radioterapia."},"it":{"name":"Deficit combinati dell'ormone ipofisario, forme genetiche","synonyms":["Deficit multipli dell'ormone ipofisario, forme genetiche","Ipopituitarismo familiare congenito"]},"nl":{"name":"Gecombineerde hypofysehormoondeficiënties, genetische vormen","synonyms":["Familiaal congenitaal hypopituïtarisme","Meervoudige hypofysehormoondeficiënties, genetische vormen"],"definition":"Congenitaal hypopituïtarisme wordt gekenmerkt door meervoudige hypofysehormoondeficiëntie, waaronder somatotrope, thyrotrope, lactotrope, corticotrope of gonadotrope deficiëntie. Congenitaal hypopituïtarisme is zeldzaam in vergelijking met de hoge incidentie van hypopituïtarisme geïnduceerd door hypofyseadenoom, transsfenoïdale chirurgie of radiotherapie."},"pt":{"name":"Deficiências combinadas de hormonas hipofisárias, formas genéticas","definition":"O hipopituitarismo congénito é caracterizado por deficiência múltipla de hormonas hipofisárias, incluindo deficiências somatotróficas, tireotróficas, lactotróficas, corticotróficas ou gonadotróficas. O hipopituitarismo congénito é raro em comparação com a elevada incidência de hipopituitarismo induzido por adenomas hipofisários, cirurgia transesfenoidal ou radioterapia."},"pl":{"name":"Złożone niedobory hormonów przysadki, formy genetyczne","synonyms":["Rodzinna wrodzona niedoczynność przysadki","Złożone niedobory hormonów przysadki, formy genetyczne"],"definition":"Wrodzona niedoczynność przysadki charakteryzuje się niedoborem wielu hormonów przysadki, w tym somatotropowych, kortykotropowych, laktotropowych i gonadotropowych. Wrodzona niedoczynność przysadki jest rzadka w porównaniu z dużą częstością występowania niedoczynności przysadki wywołanej gruczolakami przysadki, operacjami z dostępu przez zatokę klinową lub radioterapią."},"cs":{"name":"Kombinovaný deficit hormonů hypofýzy, genetické formy","synonyms":["Familiární vrozený hypopituitarismus","Mnohočetný deficit hormonů hypofýzy, genetické formy"]},"uk":{"name":"Комбінований дефіцит гормонів гіпофіза, генетично обумовлені форми","synonyms":["Сімейний вроджений гіпопітуїтаризм","Множинна недостатність гормонів гіпофіза, генетичні форми"],"definition":"Congenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies. Congenital hypopituitarism is rare compared with the high incidence of hypopituitarism induced by pituitary adenomas, transsphenoidal surgery or radiotherapy."},"zh":{"name":"联合垂体激素缺乏症，遗传型","synonyms":["遗传型多发性垂体激素缺乏症"],"definition":"先天性垂体功能减退症的特点是多种垂体激素缺乏，包括促生长激素、促甲状腺激素、泌乳素、促肾上腺皮质激素和促性腺激素，这是由参与垂体发育的垂体转录因子突变所致。垂体腺瘤、经蝶窦手术或放疗所致的垂体功能减退较为常见，与之相比，先天性垂体功能减退是罕见的。"},"tr":{"name":"Kombine hipofiz hormonu eksiklikleri, genetik formlar","synonyms":["Ailesel doğumsal hipopituitarizm","Çoklu hipofiz hormonu eksiklikleri, genetik formlar"]}},"xrefs":[{"source":"OMIM","code":"182230","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"262600","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613038","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613986","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E23.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5A61.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0013099","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4273747","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10602","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":"LHX4","name":"LIM homeobox 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"25871839[PMID]","hgnc":"21734","ensembl":"ENSG00000121454","omim":"602146","loci":["1q25.2"]},{"symbol":"FOXA2","name":"forkhead box A2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"30414530[PMID]","hgnc":"5022","ensembl":"ENSG00000125798","omim":"600288","loci":["20p11.21"]},{"symbol":"GLI2","name":"GLI family zinc finger 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20685856[PMID]","hgnc":"4318","ensembl":"ENSG00000074047","omim":"165230","loci":["2q14.2"]},{"symbol":"HESX1","name":"HESX homeobox 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"14561704[PMID]","hgnc":"4877","ensembl":"ENSG00000163666","omim":"601802","loci":["3p14.3"]},{"symbol":"OTX2","name":"orthodenticle homeobox 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"18728160[PMID]","hgnc":"8522","ensembl":"ENSG00000165588","omim":"600037","loci":["14q22.3"]},{"symbol":"POU1F1","name":"POU class 1 homeobox 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"15670191[PMID]","hgnc":"9210","ensembl":"ENSG00000064835","omim":"173110","loci":["3p11.2"]},{"symbol":"PROP1","name":"PROP paired-like homeobox 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"9462743[PMID]","hgnc":"9455","ensembl":"ENSG00000175325","omim":"601538","loci":["5q35.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive","X-linked recessive"],"onset":["Infancy","Neonatal"],"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":"2016-07-06","source":"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:0010626","label":"Anterior pituitary agenesis","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:0000938","label":"Osteopenia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008245","label":"Pituitary hypothyroidism","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: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:0011297","label":"Abnormal digit morphology","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000478","label":"Abnormality of the eye","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001331","label":"Absent septum pellucidum","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001274","label":"Agenesis of corpus callosum","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0004637","label":"Decreased cervical spine mobility","frequency":"Very rare (<4-1%)","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},{"hpo":"HP:0001360","label":"Holoprosencephaly","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0009099","label":"Median cleft palate","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000609","label":"Optic nerve hypoplasia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0010442","label":"Polydactyly","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100842","label":"Septo-optic dysplasia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0011344","label":"Severe global developmental delay","frequency":"Very rare (<4-1%)","criteria":null}]}}