{"orpha":1173,"name":"Cerebellar ataxia-hypogonadism syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Gordon-Holmes syndrome","Luteinizing hormone-releasing hormone deficiency with ataxia"],"definition":"Cerebellar ataxia-hypogonadism syndrome is a very rare autosomal recessive neurodegenerative disorder characterized by the combination of progressive cerebellar ataxia with onset from early childhood to the fourth decade, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Cerebellar ataxia-hypogonadism syndrome belongs to a clinical continuum of neurodegenerative disorders along with clinically overlapping disorders such as ataxia-hypogonadism-choroidal dystrophy syndrome.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1173/","orphanet_url":"https://www.orpha.net/en/disease/detail/1173","names":{"fr":{"name":"Syndrome d'ataxie cérébelleuse-hypogonadisme","synonyms":["Déficit en LHRH","Syndrome de Gordon-Holmes"],"definition":"Le syndrome d'ataxie cérébelleuse-hypogonadisme est une maladie neurodégénérative autosomique récessive très rare caractérisée par la combinaison d'une ataxie cérébelleuse progressive survenant de la petite enfance à la quatrième décennie et d'un hypogonadisme hypogonadotrope (puberté retardée et absence de caractères sexuels secondaires). Le syndrome d'ataxie cérébelleuse-hypogonadisme appartient à un continuum clinique de maladies neurodégénératives, tout comme le syndrome d'ataxie-hypogonadisme-dystrophie choroïdienne dont il partage des signes cliniques."},"de":{"name":"Zerebelläre Ataxie - Hypogonadismus","synonyms":["Gordon-Holmes-Syndrom","Mangel an LH-Releasing-Hormon mit Ataxie"]},"es":{"name":"Síndrome de ataxia cerebelosa-hipogonadismo","synonyms":["Deficiencia de liberación de hormona luteinizante con ataxia","Síndrome de Gordon-Holmes"],"definition":"El síndrome de ataxia cerebelosa - hipogonadismo es un trastorno neurodegenerativo autosómico recesivo muy raro caracterizado por la combinación de ataxia cerebelosa progresiva, de aparición entre la infancia temprana y la cuarta década de vida, e hipogonadismo hipogonadotrópico (retraso puberal y falta de caracteres sexuales secundarios). El síndrome de ataxia cerebelosa - hipogonadismo pertenece a un continuo clínico de trastornos neurodegenerativos junto con trastornos clínicamente solapantes tales como el síndrome de ataxia - hipogonadismo - distrofia coroidea (consulte este término)."},"it":{"name":"Atassia cerebellare - ipogonadismo","synonyms":["Deficit dell'ormone rilasciante l'ormone luteinizzante con atassia","Sindrome di Gordon-Holmes"],"definition":"La sindrome atassia cerebellare-ipogonadismo è una malattia neurodegenerativa autosomica recessiva molto rara, caratterizzata dall'associazione tra atassia cerebellare progressiva ad esordio tra la prima infanzia e la quarta decade di vita, e ipogonadismo ipogonadotropo (pubertà ritardata e assenza di caratteri sessuali secondari). La sindrome atassia cerebellare-ipogonadismo fa parte di un continuum clinico di malattie neurodegenerative e patologie clinicamente sovrapponibili, compresa la sindrome atassia-ipogonadismo-distrofia coroideale (si veda questo termine)."},"nl":{"name":"Cerebellaire ataxie - hypogonadisme-syndroom","synonyms":["Deficiëntie van luteïniserend hormoon-'releasing' hormoon met ataxie","Deficiëntie van luteïniserend-hormoonvrijmakend hormoon met ataxie","Syndroom van Gordon-Holmes"],"definition":"Cerebellaire ataxie - hypogonadisme-syndroom is een zeer zeldzame, autosomaal recessieve neurodegeneratieve stoornis die gekarakteriseerd wordt door de combinatie van progressieve cerebellaire ataxie, met aanvang vanaf de vroege kindertijd tot het vierde levensdecennium, en hypogonadotroop hypogonadisme (vertraagde puberteit en gebrek aan secundaire geslachtskenmerken). Cerebellaire ataxie - hypogonadisme-syndroom behoort tot een klinisch continuüm van neurodegeneratieve stoornissen, samen met klinisch overlappende aandoeningen zoals ataxie - hypogonadisme - choroïdale dystrofie-syndroom (zie deze term)."},"pt":{"name":"Síndrome de ataxia cerebelosa-hipogonadismo","synonyms":["Deficiência de LHRH com ataxia","Deficiência de hormona libertadora da hormona luteinizante com ataxia","Síndrome Gordon-Holmes"]},"pl":{"name":"Ataksja móżdżkowa - hipogonadyzm","synonyms":["Niedobór gonadoliberyny z ataksją","Zespół Gordona Holmesa"]},"cs":{"name":"Syndrom zahrnující cerebelární ataxii a hypogonadismus","synonyms":["Gordon Holmesův syndrom","Deficit hormonu uvolňujícího luteinizační hormon s ataxií"]},"uk":{"name":"Синдром мозочкової атаксії-гіпогонадизму","synonyms":["Синдром Гордона-Холмса","Дефіцит лютеїнізуючого гормону з атаксією"],"definition":"Cerebellar ataxia-hypogonadism syndrome is a very rare autosomal recessive neurodegenerative disorder characterized by the combination of progressive cerebellar ataxia with onset from early childhood to the fourth decade, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Cerebellar ataxia-hypogonadism syndrome belongs to a clinical continuum of neurodegenerative disorders along with clinically overlapping disorders such as ataxia-hypogonadism-choroidal dystrophy syndrome (see this term)."},"zh":{"name":"小脑共济失调-性腺功能减退综合征","synonyms":["黄体素释放激素缺乏伴共济失调"]},"tr":{"name":"Serebellar ataksi-hipogonadizm sendromu","synonyms":["Gordon-Holmes sendromu","Ataksi ile birlikte luteinize edici hormon salgılayan hormon eksikliği"]}},"xrefs":[{"source":"OMIM","code":"212840","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"605672","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G11.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0008935","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C565870","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1859305","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3314","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":183518,"name":"Hereditary ataxia","classifications":[156,181]},{"orpha":181387,"name":"Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism","classifications":[156,193,201,205]}],"children":[],"genes":[{"symbol":"RNF216","name":"ring finger protein 216","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"23656588[PMID]","hgnc":"21698","ensembl":"ENSG00000011275","omim":"609948","loci":["7p22.1"]},{"symbol":"PNPLA6","name":"patatin like domain 6, lysophospholipase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24355708[PMID]","hgnc":"16268","ensembl":"ENSG00000032444","omim":"603197","loci":["19p13.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Adult","Childhood"],"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":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000512","label":"Abnormal electroretinogram","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007703","label":"Abnormality of retinal pigmentation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002167","label":"Abnormality of speech or vocalization","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000864","label":"Abnormality of the hypothalamus-pituitary axis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000144","label":"Decreased fertility","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000771","label":"Gynecomastia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000135","label":"Hypogonadism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000044","label":"Hypogonadotropic hypogonadism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004374","label":"Hemiplegia/hemiparesis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000248","label":"Brachycephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000726","label":"Dementia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000751","label":"Personality changes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002558","label":"Supernumerary nipple","frequency":"Occasional (29-5%)","criteria":null}]}}