{"orpha":1227,"name":"Bangstad syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Ataxia-diabetes-goiter-gonadal insufficiency syndrome"],"definition":"Bangstad syndrome is a rare endocrine disease characterized by the association of primordial birdheaded nanism, progressive ataxia, goiter, primary gonadal insufficiency and insulin resistant diabetes mellitus. Plasma concentrations of TSH, PTH, LH, FSH, ACTH, glucagon, and insulin are usually elevated. A generalized cell membrane defect was suggested to be the pathophysiological abnormality in these patients. The mode of inheritance was thought to be autosomal recessive. There have been no further descriptions in the literature since 1989.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1227/","orphanet_url":"https://www.orpha.net/en/disease/detail/1227","names":{"fr":{"name":"Syndrome de Bangstad","synonyms":["Syndrome d'ataxie-diabète-goitre-insuffisance gonadique"],"definition":"Maladie endocrinienne rare caractérisée par l'association du syndrome de Seckel, de l'ataxie progressive, du goitre, de l'hypogonadisme primaire et du diabète sucré insulinorésistant. Les taux plasmatiques de TSH, PTH, LH, FSH, ACTH, glucagon et insuline sont généralement élevés. Un défaut généralisé de la membrane cellulaire est considéré comme étant l'anomalie physiopathologique chez ces patients. On peut penser que le mode de transmission est autosomique récessif. Aucun cas n'a été décrit dans la littérature depuis 1989."},"de":{"name":"Bangstad-Syndrom","synonyms":["Ataxie - Diabetes - Gicht - gonadale Insuffizienz"]},"es":{"name":"Síndrome de Bangstad","definition":"Es una enfermedad endocrina poco frecuente caracterizada por la asociación de enanismo primordial con microcefalia, ataxia progresiva, bocio, insuficiencia gonadal primaria y diabetes mellitus resistente a la insulina. Las concentraciones plasmáticas de TSH, PTH, LH, FSH, ACTH, glucagón e insulina suelen estar elevadas. Se ha sugerido que la alteración fisiopatológica en estos pacientes se debe a un defecto generalizado de la membrana celular. Se cree que el modo de herencia es autosómico recesivo. No ha habido más descripciones en la literatura desde 1989."},"it":{"name":"Sindrome di Bangstad","synonyms":["Atassia - diabete - gozzo - insufficienza gonadica"]},"nl":{"name":"Syndroom van Bangstad","synonyms":["Ataxie - diabetes - struma - gonadale insufficiëntie-syndroom"],"definition":"Een zeldzame endocriene aandoening, gekenmerkt door de associatie van primordiale vogelkop-dwerggroei, progressieve ataxie, struma, primaire gonadale insufficiëntie en insulineresistente diabetes mellitus. Concentraties van TSH, PTH, LH, FSH, ACTH, glucagon, en insuline in plasma zijn meestal verhoogd. Er werd gesuggereerd dat een gegeneraliseerd defect van celmembraan de pathofysiologische afwijking was bij deze patiënten. De manier van overerving is vermoedelijk autosomaal recessief. Sinds 1989 zijn er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Síndrome Bangstad"},"pl":{"name":"Zespół Bangstad","synonyms":["Ataksja - cukrzyca - wole - niedoczynność gonad"]},"cs":{"name":"Bangstadův syndrom","synonyms":["Syndrom zahrnující ataxii, diabetes, strumu a gonadální insuficienci"]},"uk":{"name":"Синдром Бангстада","synonyms":["Синдром атаксії-діабету-зобу-гонадної недостатності"],"definition":"Bangstad syndrome is a rare endocrine disease characterized by the association of primordial birdheaded nanism, progressive ataxia, goiter, primary gonadal insufficiency and insulin resistant diabetes mellitus. Plasma concentrations of TSH, PTH, LH, FSH, ACTH, glucagon, and insulin are usually elevated. A generalized cell membrane defect was suggested to be the pathophysiological abnormality in these patients. The mode of inheritance was thought to be autosomal recessive. There have been no further descriptions in the literature since 1989."},"zh":{"name":"Bangstad综合征","synonyms":["共济失调-糖尿病-甲状腺肿-性腺功能不全综合征"]},"tr":{"name":"Bangstad sendromu","synonyms":["Ataksi-diyabet-guatr-gonadal yetmezlik sendromu"]}},"xrefs":[{"source":"OMIM","code":"210740","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E31.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5B0Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0008874","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537902","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0342284","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"812","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":183643,"name":"Genetic polyendocrinopathy","classifications":[156]},{"orpha":101956,"name":"Polyendocrinopathy","classifications":[193]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"2662702[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_2662702[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000035","label":"Abnormal testis morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000828","label":"Abnormality of the parathyroid gland","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000444","label":"Convex nasal ridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000490","label":"Deeply set eye","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004097","label":"Deviation of finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002353","label":"EEG abnormality","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000842","label":"Hyperinsulinemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000821","label":"Hypothyroidism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003118","label":"Increased circulating cortisol level","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000275","label":"Narrow face","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000147","label":"Polycystic ovaries","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008193","label":"Primary gonadal insufficiency","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000340","label":"Sloping forehead","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100651","label":"Type I diabetes mellitus","frequency":"Very frequent (99-80%)","criteria":null}]}}