{"orpha":157954,"name":"ANE syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Alopecia-progressive neurological defect-endocrinopathy syndrome"],"definition":"A rare, genetic, neuro-endocrino-cutaneous disorder characterized by highly variable degrees of alopecia, moderate to severe intellectual disability, progressive, late-onset motor deterioration and combined anterior pituitary hormone deficiency, manifesting with central hypogonadotropic hypogonadism, delayed or absent puberty, growth hormone deficiency (resulting in short stature), progressive central adrenal insufficiency and a hypoplastic anterior pituitary gland. Additional features include hypodontia, flexural reticulate hyperpigmentation, gynecomastia, microcephaly and kyphoscoliosis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-157954/","orphanet_url":"https://www.orpha.net/en/disease/detail/157954","names":{"fr":{"name":"Syndrome ANE","synonyms":["Syndrome d'alopécie-trouble neurologique progressif-endocrinopathie"],"definition":"Maladie neuro-endocrino-cutanée rare d'origine génétique, caractérisée par une alopécie de degré variable, une déficience intellectuelle modérée à sévère, une détérioration progressive et tardive de la motricité et un déficit hypophysaire antérieur, se manifestant par un hypogonadisme hypogonadotrope central, un retard ou une absence de puberté, un déficit en hormone de croissance (entraînant une petite taille), une insuffisance surrénalienne centrale progressive et une hypoplasie de l'antéhypophyse. Les autres caractéristiques de la maladie sont une hypodontie, une hyperpigmentation réticulée des zones de flexion, une gynécomastie, une microcéphalie et une cyphoscoliose."},"de":{"name":"ANE-Syndrom","synonyms":["Alopezie-progressiver neurologischer Defekt-Endokrinopathie-Syndrom"]},"es":{"name":"Síndrome ANE","synonyms":["Síndrome de alopecia-defecto neurológico progresivo-endocrinopatía"],"definition":"Es un trastorno neuro-endocrino-cutáneo, genético y poco frecuente, caracterizado por grados muy variables de alopecia, discapacidad intelectual de moderada a grave, deterioro motor progresivo de inicio tardío y deficiencia combinada de hormona hipofisaria anterior, que se manifiesta con hipogonadismo hipogonadotrópico central, pubertad retrasada o ausente, deficiencia de la hormona del crecimiento (que resulta en talla baja), insuficiencia suprarrenal central progresiva y glándula pituitaria anterior hipoplásica. Otras características adicionales incluyen hipodoncia, hiperpigmentación reticular flexural, ginecomastia, microcefalia y cifoescoliosis."},"it":{"name":"Sindrome ANE","synonyms":["Sindrome alopecia-difetto neurologico progressivo-endocrinopatia"],"definition":"La sindrome ANE è una malattia neuro-endocrina e cutanea rara, di origine genetica, caratterizzata da alopecia di grado molto variabile, disabilità intellettiva moderata-grave, deterioramento motorio progressivo ad esordio tardivo e deficit combinato dell'ormone dell'ipofisi anteriore, che esordisce con ipogonadismo ipogonadotropo centrale, assenza o ritardo della pubertà, deficit dell'ormone della crescita (con conseguente bassa statura), insufficienza surrenalica centrale progressiva ed ipoplasia dell'ipofisi anteriore. Altri segni clinici comprendono l'ipodontia, l'iperpigmentazione reticolare in flessione, la ginecomastia, la microcefalia e la cifoscoliosi."},"nl":{"name":"ANE-syndroom","synonyms":["Alopecie - progressief neurologisch defect - endocrinopathie-syndroom"],"definition":"Een zeldzame, genetische, neuro-endocrino-cutane aandoening, gekarakteriseerd door zeer variabele gradaties van alopecie, matige tot ernstige intellectuele achterstand, progressieve motorische achteruitgang met late aanvang en gecombineerde hormoondeficiëntie van de voorste hypofyse die zich manifesteert met centraal hypogonadotroop hypogonadisme, uitgestelde of afwezige puberteit, deficiëntie van groeihormoon (met kleine gestalte tot gevolg), progressieve centrale bijnierschorsinsufficiëntie, en een hypoplastische anterieure hypofyse. Bijkomende kenmerken zijn onder meer hypodontie, flexurale reticulaire hyperpigmentatie, gynaecomastie, microcefalie en kyfoscoliose."},"pt":{"name":"Síndrome ANE"},"pl":{"name":"Zespół ANE","synonyms":["Zespół łysienia, postępującego defektu neurologicznego i endokrynopatii"],"definition":"*Zespół ANE (łysienie – zaburzenia neurologiczne – endokrynopatia) jest rzadkim, genetycznie uwarunkowanym zaburzeniem neuro-endokrynno-skórnym, które charakteryzuje się łysieniem o bardzo zmiennym stopniu nasilenia, umiarkowaną lub znaczną niepełnosprawnością intelektualną, postępującym pogorszeniem funkcji ruchowych o późnym początku oraz złożonym niedoborem hormonów przedniego płata przysadki mózgowej, objawiającym się ośrodkowym hipogonadyzmem hipogonadotropowym, opóźnionym dojrzewaniem lub jego brakiem, niedoborem hormonu wzrostu (co skutkuje niskim wzrostem), postępującą ośrodkową niewydolnością kory nadnerczy oraz hipoplazją przedniego płata przysadki. Dodatkowe objawy to: hipodoncja, siatkowate przebarwienia w zgięciach, ginekomastia, małogłowie i kyfoskolioza."},"cs":{"name":"ANE syndrom","synonyms":["Syndrom zahrnující alopecii, progresivní neurologický deficit a endokrinopatii"]},"uk":{"name":"Синдром гострої ниркової недостатності","synonyms":["Синдром алопеції-прогресуючого неврологічного дефекту-ендокринопатії"],"definition":"A rare, genetic, neuro-endocrino-cutaneous disorder characterized by highly variable degrees of alopecia, moderate to severe intellectual disability, progressive, late-onset motor deterioration and combined anterior pituitary hormone deficiency, manifesting with central hypogonadotropic hypogonadism, delayed or absent puberty, growth hormone deficiency (resulting in short stature), progressive central adrenal insufficiency and a hypoplastic anterior pituitary gland. Additional features include hypodontia, flexural reticulate hyperpigmentation, gynecomastia, microcephaly and kyphoscoliosis."},"zh":{"name":"ANE综合征","synonyms":["脱发症-进行性神经缺陷-内分泌病综合征"],"definition":"一种罕见的遗传性神经-内分泌-皮肤病，其特征是不同程度脱发、中至重度智力残疾、进行性迟发性运动退化以及联合垂体前叶激素缺乏，表现为中枢性低促性腺激素性性腺功能减低、青春期延迟或消失、生长激素缺乏(导致身材矮小)、进行性中央性肾上腺功能不全和垂体前叶发育不良。其他特征包括缺牙、屈侧网状色素沉着、男子乳腺发育、小头畸形和脊柱后凸侧弯。"},"tr":{"name":"ANE sendromu","synonyms":["Alopesi ilerleyici nörolojik defekt-endokrinopati sendromu"]}},"xrefs":[{"source":"OMIM","code":"612079","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E23.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0012794","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C567425","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2677535","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":79364,"name":"Alopecia","classifications":[187]},{"orpha":95495,"name":"Disease associated with non-acquired combined pituitary hormone deficiency","classifications":[156,193]},{"orpha":481771,"name":"Genetic alopecia","classifications":[156]},{"orpha":181387,"name":"Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism","classifications":[156,193,201,205]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"RBM28","name":"RNA binding motif protein 28","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"18439547[PMID]","hgnc":"21863","ensembl":"ENSG00000106344","omim":"612074","loci":["7q32.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"18439547[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_18439547[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-05-29","source":"20231366[PMID]_18439547[PMID]","terms":[{"hpo":"HP:0031074","label":"Abnormal response to ACTH stimulation test","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011735","label":"Adrenocorticotropin deficient adrenal insufficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001596","label":"Alopecia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010627","label":"Anterior pituitary hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000670","label":"Carious teeth","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:0030353","label":"Decreased serum insulin-like growth factor 1","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040171","label":"Decreased serum testosterone concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000823","label":"Delayed puberty","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000771","label":"Gynecomastia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000953","label":"Hyperpigmentation of the skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007481","label":"Hyperpigmented nevi","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000668","label":"Hypodontia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000044","label":"Hypogonadotropic hypogonadism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002751","label":"Kyphoscoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100578","label":"Lipoatrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002333","label":"Motor deterioration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007373","label":"Motor neuron atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002828","label":"Multiple joint contractures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006480","label":"Premature loss of teeth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009487","label":"Ulnar deviation of the hand","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003700","label":"Generalized amyotrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008245","label":"Pituitary hypothyroidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008202","label":"Reduced circulating prolactin concentration","frequency":"Occasional (29-5%)","criteria":null}]}}