{"orpha":3130,"name":"Satoyoshi syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Komuragaeri disease"],"definition":"Satoyoshi syndrome is a rare, multisystemic autoimmune disease mainly characterized by intermittent painful muscle spasms, alopecia (totalis or universalis in most cases) and long-lasting diarrhea that could lead to malnutrition, growth retardation, and amenorrhea. Secondary bone deformities and various endocrine anomalies may also be associated. Antinuclear antibodies are reported in many cases.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3130/","orphanet_url":"https://www.orpha.net/en/disease/detail/3130","names":{"fr":{"name":"Syndrome de Satoyoshi","definition":"Le syndrome de Satoyoshi est une maladie auto-immune multi-systémique rare, principalement caractérisée par des spasmes musculaires intermittents et douloureux, une alopécie (totalis ou universalis dans la plupart des cas) et une diarrhée persistante pouvant conduire à une malnutrition, un retard de croissance et une aménorrhée. Des déformations osseuses secondaires et des anomalies endocrines multiples peuvent aussi être associées. Des anticorps antinucléaires sont rapportés dans de nombreux cas."},"de":{"name":"Satoyoshi-Syndrom","definition":"Das Satoyoshi-Syndrom ist eine seltene, multisystemische Autoimmunerkrankung, die hauptsächlich durch intermittierende schmerzhafte Muskelkrämpfe, Alopezie (in den meisten Fällen totalis oder universalis) und lang anhaltende Diarrhöe gekennzeichnet ist, die zu Unterernährung, Wachstumsretardierung und Amenorrhoe führen kann. Sekundäre Knochendeformitäten und verschiedene endokrine Anomalien können ebenfalls assoziiert sein. Antinukleäre Antikörper werden in vielen Fällen berichtet."},"es":{"name":"Síndrome de Satoyoshi","definition":"El síndrome de Satoyoshi es una enfermedad autoinmune multisistémica poco frecuente caracterizada principalmente por espasmos musculares dolorosos intermitentes, alopecia (total o universal en la mayoría de los casos) y diarrea persistente que puede conducir a desnutrición, retraso del crecimiento y amenorrea. También pueden asociarse deformidades óseas secundarias y diversas anomalías endocrinas. En muchos casos, se ha descrito la presencia de anticuerpos antinucleares."},"it":{"name":"Sindrome di Satoyoshi","definition":"La sindrome di Satoyoshi è una malattia autoimmune multisistemica rara, caratterizzata da spasmi muscolari intermittenti dolorosi, alopecia (nella maggior parte dei casi completa o universale) e diarrea protratta che può esitare nella malnutrizione, nel ritardo della crescita e nell'amenorrea. Possono associarsi deformità ossee secondarie e anomalie endocrine. In molti casi sono presenti anticorpi antinucleo."},"nl":{"name":"Syndroom van Satoyoshi","definition":"Syndroom van Satoyoshi is een zeldzame, multisystemische auto-immuunziekte die vooral gekarakteriseerd wordt door intermitterende pijnlijke spierspasmen, alopecie (totalis of universalis in de meeste gevallen) en langdurige diarree die kan leiden tot malnutritie, groeiretardatie, en amenorroe. Secundaire botmisvormingen en verscheidene endocriene anomalieën kunnen ook geassocieerd zijn. In vele gevallen worden antinucleaire antilichamen gerapporteerd."},"pt":{"name":"Síndrome Satoyoshi"},"pl":{"name":"Zespół Satoyoshi","synonyms":["Komuragaeri disease"]},"cs":{"name":"Satoyoshiho syndrom","synonyms":["Komuragaeri disease"]},"uk":{"name":"Синдром Сатойоші","synonyms":["Хвороба Комурагаері"],"definition":"Satoyoshi syndrome is a rare, multisystemic autoimmune disease mainly characterized by intermittent painful muscle spasms, alopecia (totalis or universalis in most cases) and long-lasting diarrhea that could lead to malnutrition, growth retardation, and amenorrhea. Secondary bone deformities and various endocrine anomalies may also be associated. Antinuclear antibodies are reported in many cases."},"zh":{"name":"Satoyoshi 综合征","synonyms":["Komuragaeri病"]},"tr":{"name":"Satoyoshi sendromu","synonyms":["Komuragaeri hastalığı"]}},"xrefs":[{"source":"OMIM","code":"600705","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4A4Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0010922","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536616","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1833454","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"160","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10070579","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98023,"name":"Rare systemic or rheumatologic disease"},"parents":[{"orpha":79364,"name":"Alopecia","classifications":[187]},{"orpha":117569,"name":"Rare intestinal disease","classifications":[152]},{"orpha":95710,"name":"Rare non-acquired premature ovarian failure","classifications":[193,205]},{"orpha":182228,"name":"Systemic autoimmune disease","classifications":[196]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adolescent","Adult","Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_19839037[PMID]"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":50.0,"area":"Worldwide","status":"Validated","source":"19839037[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0031095","label":"Abnormal humerus morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001367","label":"Abnormal joint morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000944","label":"Abnormal metaphysis morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005930","label":"Abnormality of epiphysis morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002823","label":"Abnormality of femur morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001595","label":"Abnormality of the hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003272","label":"Abnormality of the hip bone","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002815","label":"Abnormality of the knee","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000137","label":"Abnormality of the ovary","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000924","label":"Abnormality of the skeletal system","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000130","label":"Abnormality of the uterus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003019","label":"Abnormality of the wrist","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002289","label":"Alopecia universalis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000141","label":"Amenorrhea","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002970","label":"Genu varum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003307","label":"Hyperlordosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008724","label":"Hypoplasia of the ovary","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000013","label":"Hypoplasia of the uterus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011964","label":"Intermittent painful muscle spasms","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009806","label":"Nephrogenic diabetes insipidus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200102","label":"Sparse or absent eyelashes","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001182","label":"Tapered finger","frequency":"Very frequent (99-80%)","criteria":null}]}}