{"orpha":238666,"name":"Isolated congenital hypogonadotropic hypogonadism","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Gonadotropic deficiency","Isolated congenital gonadotropin deficiency","Isolated gonadotropin-releasing hormone deficiency"],"definition":"A rare, genetic pituitary hormone deficiency characterized by gonadotropin (Gn) deficiency with low sex steroid levels associated with low levels of follicle stimulating hormone (FSH) and luteinizing hormone (LH). This disorder may be associated with a normal (normosmic) or impaired sense of smell (Kallmann syndrome).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-238666/","orphanet_url":"https://www.orpha.net/en/disease/detail/238666","names":{"fr":{"name":"Hypogonadisme hypogonadotrope congénital isolé","synonyms":["Déficit congénital isolé en gonadotropine","Déficit gonadotropique","Déficit isolé en hormone de libération des gonadotrophines"],"definition":"Déficit hormonal hypophysaire génétique rare, caractérisé par un déficit en gonadotrophine (Gn) et de faibles taux de stéroïdes sexuels associés à de faibles taux d'hormone folliculo-stimulante (FSH) et d'hormone lutéinisante (LH). La maladie peut être associée à un odorat normal (normosmique) ou altéré (syndrome de Kallmann)."},"de":{"name":"Hypogonadotroper Hypogonadismus, isolierter kongenitaler","synonyms":["Gonadotropin-Defizienz, isolierte kongenitale","Gonadotropin-Mangel","Isolierter Gonadotropin-Releasing-Hormon-Mangel"],"definition":"Ein genetisch bedingter Hypophysenhormonmangel, der durch einen Mangel an Gonadotropin (Gn) mit niedrigen Sexualsteroidspiegeln in Verbindung mit niedrigen Spiegeln des follikelstimulierenden Hormons (FSH) und des luteinisierenden Hormons (LH) gekennzeichnet ist. Diese Störung kann mit einem normalen (normosmischen) oder gestörten Geruchssinn (Kallmann-Syndrom) verbunden sein."},"es":{"name":"Hipogonadismo hipogonadotrópico congénito aislado","synonyms":["Deficiencia de gonadotropina congénita aislada","Deficiencia de hormona liberadora de gonadotropina aislada","Deficiencia gonadotrópica"],"definition":"Es una deficiencia hormonal hipofisaria poco frecuente y de origen genético que se caracteriza por el déficit de hormona liberadora de gonadotropina (Gonadotropin Releasing Hormone, GnRH) con niveles bajos de esteroides sexuales asociados a niveles bajos de la hormona estimulante del folículo (FSH) y de la hormona luteinizante (LH). Este trastorno puede asociarse a un sentido del olfato normal (normosómico) o alterado (síndrome de Kallmann)."},"it":{"name":"Ipogonadismo ipogonadotropo congenito isolato","definition":"Si tratta di un deficit genetico raro degli ormoni ipofisari, caratterizzato da deficit delle gonadotropine (Gn), con bassi livelli degli steroidi sessuali, dell'ormone follicolo-stimolante (FSH) e dell'ormone luteinizzante (LH). La malattia può associarsi ad un olfatto normale (forma normosmica) o alterato (sindrome di Kallmann)."},"nl":{"name":"Geïsoleerd congenitaal hypogonadotroop hypogonadisme","synonyms":["Geïsoleerde deficiëntie van gonadotropine-'releasing' hormoon","Geïsoleerde deficiëntie van gonadotropinevrijmakend hormoon","Deficiëntie van gonadotroop hormoon","Geïsoleerde congenitale deficiëntie van gonadotrofine"],"definition":"Een zeldzame, genetische deficiëntie van hypofysehormoon, gekenmerkt door deficiëntie van gonadotropine (Gn) met lage gehaltes van geslachtssteroïden, geassocieerd met lage gehaltes van follikelstimulerend hormoon (FSH) en luteïniserend hormoon (LH). Deze aandoening kan geassocieerd zijn met normale (normosmisch) of verstoorde reukzin (syndroom van Kallmann)."},"pt":{"name":"Hipogonadismo hipogonadotrópico congénito isolado","synonyms":["Deficiência de gonadotropina congénita isolada","Deficiência de hormona libertadora de gonadotrofina isolada","Défice gonadotrópico"],"definition":"Deficiência genética rara de hormonas hipofisárias caracterizada por défice de gonadotrofina (Gn) com níveis reduzidos de esteróides sexuais, de hormona folículo estimulante (FSH) e hormona luteinizante (LH). Esta doença pode estar associado a perda de olfato (síndrome de Kallmann) ou a olfato sem alterações (normósmico)."},"pl":{"name":"Izolowany wrodzony hipogonadyzm hipogonadotropowy","synonyms":["Gonadotropic deficiency","Isolated congenital gonadotropin deficiency","Isolated gonadotropin-releasing hormone deficiency"]},"cs":{"name":"Izolovaný vrozený hypogonadotropní hypogonadismus","synonyms":["Gonadotropic deficiency","Isolated congenital gonadotropin deficiency","Isolated gonadotropin-releasing hormone deficiency"]},"uk":{"name":"Ізольований вроджений гіпогонадотропний гіпогонадизм","synonyms":["Гонадотропний дефіцит","Ізольований вроджений дефіцит гонадотропінів","Ізольований дефіцит гонадотропін-рилізинг-гормону"],"definition":"A rare, genetic pituitary hormone deficiency characterized by gonadotropin (Gn) deficiency with low sex steroid levels associated with low levels of follicle stimulating hormone (FSH) and luteinizing hormone (LH). This disorder may be associated with a normal (normosmic) or impaired sense of smell (Kallmann syndrome)."},"zh":{"name":"孤立性先天性低促性腺素性功能减退症","synonyms":["Gonadotropic deficiency","Isolated congenital gonadotropin deficiency","Isolated gonadotropin-releasing hormone deficiency"],"definition":"一种罕见的性成熟障碍，以促性腺激素（Gn）缺乏为特征，性激素水平低，卵泡刺激素（FSH）和黄体生成激素（LH）水平低。"},"tr":{"name":"İzole doğumsal hipogonadotropik hipogonadizm","synonyms":["Gonadotropic deficiency","Isolated congenital gonadotropin deficiency","Isolated gonadotropin-releasing hormone deficiency"]}},"xrefs":[{"source":"ICD-10","code":"E23.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5A61.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1752075408"},{"source":"MONDO","code":"0016553","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679849","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":174590,"name":"Congenital hypogonadotropic hypogonadism","classifications":[156,193,201,205]},{"orpha":399839,"name":"Rare female infertility due to a congenital hypogonadotropic hypogonadism","classifications":[156,201]}],"children":[{"orpha":478,"name":"Kallmann syndrome","type":"Clinical subtype"},{"orpha":432,"name":"Normosmic congenital hypogonadotropic hypogonadism","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"ANOS1","name":"anosmin 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"21168128[PMID]","hgnc":"6211","ensembl":"ENSG00000011201","omim":"300836","loci":["Xp22.31"],"via":{"orpha":478,"name":"Kallmann syndrome"}},{"symbol":"DCC","name":"DCC netrin 1 receptor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"29202173[PMID]","hgnc":"2701","ensembl":"ENSG00000187323","omim":"120470","loci":["18q21.2"],"via":{"orpha":478,"name":"Kallmann syndrome"}},{"symbol":"FEZF1","name":"FEZ family zinc finger 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"25192046[PMID]","hgnc":"22788","ensembl":"ENSG00000128610","omim":"613301","loci":["7q31.32"],"via":{"orpha":478,"name":"Kallmann syndrome"}},{"symbol":"FGF8","name":"fibroblast growth factor 8","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"18596921[PMID]_20463092[PMID]","hgnc":"3686","ensembl":"ENSG00000107831","omim":"600483","loci":["10q24.32"],"via":{"orpha":432,"name":"Normosmic congenital hypogonadotropic hypogonadism"}},{"symbol":"FGF8","name":"fibroblast growth factor 8","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"18596921[PMID]_20463092[PMID]","hgnc":"3686","ensembl":"ENSG00000107831","omim":"600483","loci":["10q24.32"],"via":{"orpha":478,"name":"Kallmann syndrome"}},{"symbol":"FGFR1","name":"fibroblast growth factor receptor 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"17235395[PMID]","hgnc":"3688","ensembl":"ENSG00000077782","omim":"136350","loci":["8p11.23"],"via":{"orpha":432,"name":"Normosmic congenital hypogonadotropic hypogonadism"}},{"symbol":"FGFR1","name":"fibroblast growth factor receptor 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"17235395[PMID]","hgnc":"3688","ensembl":"ENSG00000077782","omim":"136350","loci":["8p11.23"],"via":{"orpha":478,"name":"Kallmann syndrome"}},{"symbol":"GNRHR","name":"gonadotropin releasing hormone receptor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"22918878[PMID]","hgnc":"4421","ensembl":"ENSG00000109163","omim":"138850","loci":["4q13.2"],"via":{"orpha":432,"name":"Normosmic congenital hypogonadotropic hypogonadism"}},{"symbol":"HS6ST1","name":"heparan sulfate 6-O-sulfotransferase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"21700882[PMID]","hgnc":"5201","ensembl":"ENSG00000136720","omim":"604846","loci":["2q14.3"],"via":{"orpha":432,"name":"Normosmic congenital hypogonadotropic hypogonadism"}},{"symbol":"HS6ST1","name":"heparan sulfate 6-O-sulfotransferase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"21700882[PMID]_23997646[PMID]","hgnc":"5201","ensembl":"ENSG00000136720","omim":"604846","loci":["2q14.3"],"via":{"orpha":478,"name":"Kallmann syndrome"}},{"symbol":"KISS1","name":"KiSS-1 metastasis suppressor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"22335740[PMID]","hgnc":"6341","ensembl":"ENSG00000170498","omim":"603286","loci":["1q32.1"],"via":{"orpha":432,"name":"Normosmic congenital hypogonadotropic hypogonadism"}},{"symbol":"KISS1R","name":"KISS1 receptor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"21193544[PMID]","hgnc":"4510","ensembl":"ENSG00000116014","omim":"604161","loci":["19p13.3"],"via":{"orpha":432,"name":"Normosmic congenital hypogonadotropic hypogonadism"}},{"symbol":"PROK2","name":"prokineticin 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"17959774[PMID]_18682503[PMID]","hgnc":"18455","ensembl":"ENSG00000163421","omim":"607002","loci":["3p13"],"via":{"orpha":432,"name":"Normosmic congenital hypogonadotropic hypogonadism"}},{"symbol":"PROK2","name":"prokineticin 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"18682503[PMID]","hgnc":"18455","ensembl":"ENSG00000163421","omim":"607002","loci":["3p13"],"via":{"orpha":478,"name":"Kallmann syndrome"}},{"symbol":"PROKR2","name":"prokineticin receptor 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"18682503[PMID]","hgnc":"15836","ensembl":"ENSG00000101292","omim":"607123","loci":["20p12.3"],"via":{"orpha":432,"name":"Normosmic congenital hypogonadotropic hypogonadism"}},{"symbol":"PROKR2","name":"prokineticin receptor 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"18682503[PMID]","hgnc":"15836","ensembl":"ENSG00000101292","omim":"607123","loci":["20p12.3"],"via":{"orpha":478,"name":"Kallmann syndrome"}},{"symbol":"SEMA3A","name":"semaphorin 3A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"22416012[PMID]","hgnc":"10723","ensembl":"ENSG00000075213","omim":"603961","loci":["7q21.11"],"via":{"orpha":478,"name":"Kallmann syndrome"}},{"symbol":"SOX10","name":"SRY-box transcription factor 10","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"23643381[PMID]","hgnc":"11190","ensembl":"ENSG00000100146","omim":"602229","loci":["22q13.1"],"via":{"orpha":478,"name":"Kallmann syndrome"}},{"symbol":"TAC3","name":"tachykinin precursor 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"19079066[PMID]","hgnc":"11521","ensembl":"ENSG00000166863","omim":"162330","loci":["12q13.3"],"via":{"orpha":432,"name":"Normosmic congenital hypogonadotropic hypogonadism"}},{"symbol":"TACR3","name":"tachykinin receptor 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"19079066[PMID]","hgnc":"11528","ensembl":"ENSG00000169836","omim":"162332","loci":["4q24"],"via":{"orpha":432,"name":"Normosmic congenital hypogonadotropic hypogonadism"}},{"symbol":"CCDC141","name":"coiled-coil domain containing 141","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"28324054[PMID]","hgnc":"26821","ensembl":"ENSG00000163492","omim":"616031","loci":["2q31.2"],"via":{"orpha":478,"name":"Kallmann syndrome"}},{"symbol":"CHD7","name":"chromodomain helicase DNA binding protein 7","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"18834967[PMID]","hgnc":"20626","ensembl":"ENSG00000171316","omim":"608892","loci":["8q12.2"],"via":{"orpha":432,"name":"Normosmic congenital hypogonadotropic hypogonadism"}},{"symbol":"CHD7","name":"chromodomain helicase DNA binding protein 7","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"18834967[PMID]","hgnc":"20626","ensembl":"ENSG00000171316","omim":"608892","loci":["8q12.2"],"via":{"orpha":478,"name":"Kallmann syndrome"}},{"symbol":"DUSP6","name":"dual specificity phosphatase 6","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23643382[PMID]","hgnc":"3072","ensembl":"ENSG00000139318","omim":"602748","loci":["12q21.33"],"via":{"orpha":432,"name":"Normosmic congenital hypogonadotropic hypogonadism"}},{"symbol":"DUSP6","name":"dual specificity phosphatase 6","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23643382[PMID]","hgnc":"3072","ensembl":"ENSG00000139318","omim":"602748","loci":["12q21.33"],"via":{"orpha":478,"name":"Kallmann syndrome"}},{"symbol":"EMX2","name":"empty spiracles homeobox 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"41765865[PMID]","hgnc":"3341","ensembl":"ENSG00000170370","omim":"600035","loci":["10q26.11"],"via":{"orpha":432,"name":"Normosmic congenital hypogonadotropic hypogonadism"}},{"symbol":"EMX2","name":"empty spiracles homeobox 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"41765865[PMID]","hgnc":"3341","ensembl":"ENSG00000170370","omim":"600035","loci":["10q26.11"],"via":{"orpha":478,"name":"Kallmann syndrome"}},{"symbol":"FGF17","name":"fibroblast growth factor 17","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23643382[PMID]","hgnc":"3673","ensembl":"ENSG00000158815","omim":"603725","loci":["8p21.3"],"via":{"orpha":432,"name":"Normosmic congenital hypogonadotropic hypogonadism"}},{"symbol":"FGF17","name":"fibroblast growth factor 17","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23643382[PMID]","hgnc":"3673","ensembl":"ENSG00000158815","omim":"603725","loci":["8p21.3"],"via":{"orpha":478,"name":"Kallmann syndrome"}},{"symbol":"FLRT3","name":"fibronectin leucine rich transmembrane protein 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23643382[PMID]","hgnc":"3762","ensembl":"ENSG00000125848","omim":"604808","loci":["20p12.1"],"via":{"orpha":478,"name":"Kallmann syndrome"}},{"symbol":"GNRH1","name":"gonadotropin releasing hormone 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20887715[PMID]_20389089[PMID]","hgnc":"4419","ensembl":"ENSG00000147437","omim":"152760","loci":["8p21.2"],"via":{"orpha":432,"name":"Normosmic congenital hypogonadotropic hypogonadism"}},{"symbol":"HESX1","name":"HESX homeobox 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23465708[PMID]","hgnc":"4877","ensembl":"ENSG00000163666","omim":"601802","loci":["3p14.3"],"via":{"orpha":478,"name":"Kallmann syndrome"}},{"symbol":"IL17RD","name":"interleukin 17 receptor D","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23643382[PMID]","hgnc":"17616","ensembl":"ENSG00000144730","omim":"606807","loci":["3p14.3"],"via":{"orpha":478,"name":"Kallmann syndrome"}},{"symbol":"NDNF","name":"neuron derived neurotrophic factor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"31883645[PMID]","hgnc":"26256","ensembl":"ENSG00000173376","omim":"616506","loci":["4q27"],"via":{"orpha":478,"name":"Kallmann syndrome"}},{"symbol":"NHLH2","name":"nescient helix-loop-helix 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"35066646[PMID]","hgnc":"7818","ensembl":"ENSG00000177551","omim":"162361","loci":["1p13.1"],"via":{"orpha":432,"name":"Normosmic congenital hypogonadotropic hypogonadism"}},{"symbol":"NSMF","name":"NMDA receptor synaptonuclear signaling and neuronal migration factor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"29843","ensembl":"ENSG00000165802","omim":"608137","loci":["9q34.3"],"via":{"orpha":432,"name":"Normosmic congenital hypogonadotropic hypogonadism"}},{"symbol":"SPRY4","name":"sprouty RTK signaling antagonist 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23643382[PMID]","hgnc":"15533","ensembl":"ENSG00000187678","omim":"607984","loci":["5q31.3"],"via":{"orpha":432,"name":"Normosmic congenital hypogonadotropic hypogonadism"}},{"symbol":"SPRY4","name":"sprouty RTK signaling antagonist 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23643382[PMID]","hgnc":"15533","ensembl":"ENSG00000187678","omim":"607984","loci":["5q31.3"],"via":{"orpha":478,"name":"Kallmann syndrome"}},{"symbol":"TACR3","name":"tachykinin receptor 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23643382[PMID]_19079066[PMID]","hgnc":"11528","ensembl":"ENSG00000169836","omim":"162332","loci":["4q24"],"via":{"orpha":478,"name":"Kallmann syndrome"}},{"symbol":"WDR11","name":"WD repeat domain 11","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20887964[PMID]","hgnc":"13831","ensembl":"ENSG00000120008","omim":"606417","loci":["10q26.12"],"via":{"orpha":432,"name":"Normosmic congenital hypogonadotropic hypogonadism"}},{"symbol":"WDR11","name":"WD repeat domain 11","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20887964[PMID]","hgnc":"13831","ensembl":"ENSG00000120008","omim":"606417","loci":["10q26.12"],"via":{"orpha":478,"name":"Kallmann syndrome"}},{"symbol":"CCDC141","name":"coiled-coil domain containing 141","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"28324054[PMID]","hgnc":"26821","ensembl":"ENSG00000163492","omim":"616031","loci":["2q31.2"],"via":{"orpha":478,"name":"Kallmann syndrome"}}],"inheritance":["Autosomal dominant","Autosomal recessive","Oligogenic","Unknown","X-linked recessive"],"onset":["Adolescent","Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Prevalence at birth","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Worldwide","status":"Validated","source":"21682876[PMID]_ORPHANET"}],"phenotypes":null}