{"orpha":261476,"name":"Xp21 deletion syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Complex GKD","Complex glycerol kinase deficiency","Del(X)(p21)","Xp21 contiguous gene deletion syndrome","Xp21 microdeletion syndrome"],"definition":"A rare chromosomal anomaly characterized by complex glycerol kinase deficiency, congenital adrenal hypoplasia, intellectual disability and/or Duchenne muscular dystrophy that usually affect males. The clinical features depend on the deletion size and the number and type of involved genes.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-261476/","orphanet_url":"https://www.orpha.net/en/disease/detail/261476","names":{"fr":{"name":"Syndrome de délétion Xp21","synonyms":["Del(X)(p21)","Déficit en glycérol kinase complexe","Syndrome de microdélétion Xp21","Syndrome des gènes contigus lié à une microdélétion Xp21"],"definition":"Anomalie chromosomique rare caractérisée par un déficit du complexe glycérol kinase, une hypoplasie congénitale des surrénales, une déficience intellectuelle et/ou une dystrophie musculaire de Duchenne affectant généralement les hommes. Les caractéristiques cliniques dépendent de la taille de la délétion ainsi que du nombre et du type de gènes impliqués."},"de":{"name":"Mikrodeletionssyndrom Xp21","synonyms":["Del(X)(p21)","Glycerol-Kinase-Mangel, komplexer","Xp21 Contiguous gene deletion-Syndrom","Xp21-Deletionssyndrom"],"definition":"Eine seltene Chromosomenanomalie, die durch einen komplexen Glycerinkinase-Mangel, eine angeborene Nebennierenhypoplasie, eine Intelligenzminderung und/oder eine Duchenne-Muskeldystrophie gekennzeichnet ist und in der Regel Männer betrifft. Die klinischen Merkmale hängen von der Deletionsgröße sowie der Anzahl und Art der betroffenen Gene ab."},"es":{"name":"Síndrome de deleción Xp21","synonyms":["Deficiencia de glicerol quinasa compleja","Del(X)(p21)","GKD compleja","Síndrome de deleción de genes contiguos Xp21","Síndrome de microdeleción Xp21"],"definition":"Es una anomalía cromosómica poco frecuente caracterizada por déficit complejo de glicerol quinasa, hipoplasia suprarrenal congénita, discapacidad intelectual y/o distrofia muscular de Duchenne que, por lo general, afecta a varones. Las características clínicas dependen del tamaño de la deleción y del número y tipo de genes implicados."},"it":{"name":"Sindrome da delezione Xp21","synonyms":["Deficit complesso di glicerolo chinasi","Del(X)(p21)","GKD complesso","Sindrome da delezione di geni contigui Xp21","Sindrome da microdelezione Xp21"],"definition":"La sindrome da microdelezione Xp21 è un'anomalia cromosomica rara, caratterizzata dal deficit complesso di glicerolo chinasi, ipoplasia congenita dei surreni, disabilità intellettiva e/o distrofia muscolare di Duchenne, che di solito colpiscono i maschi. Il quadro clinico dipende dalle dimensioni della delezione e dal numero e dal tipo dei geni interessati."},"nl":{"name":"Xp21-deletiesyndroom","synonyms":["Complexe GKD","Complexe deficiëntie van glycerolkinase","Del(X)(p21)","Xp21-'contiguous gene'-deletiesyndroom","Xp21-microdeletiesyndroom"],"definition":"Een zeldzame chromosomale anomale, gekenmerkt door complexe deficiëntie van glycerolkinase, congenitale bijnierhypoplasie, intellectuele achterstand en/of musculaire dystrofie van Duchenne die meestal mannen treffen. De klinische kenmerken hangen af van de omvang van de deletie, en van het aantal en het type van de betrokken genen."},"pt":{"name":"Síndrome de deleção Xp21","synonyms":["AHC ligada ao X","Síndrome de microdeleção XP21"]},"pl":{"name":"Zespół mikrodelecji Xp21","synonyms":["Del(X)(p21)","Niedobór kinazy glicerolu - zespół przyległego genu","Zespół mikrodelecji Xp21"],"definition":"*Zespół mikrodelecji Xp21 jest rzadką aberracją chromosomową, która charakteryzuje się złożonym niedoborem kinazy glicerolowej, wrodzoną hipoplazją nadnerczy, niepełnosprawnością intelektualną i/lub dystrofią mięśniową Duchenne'a, zwykle dotyczącą mężczyzn. Objawy kliniczne zależą od wielkości delecji oraz liczby i typu genów znajdujących się w obszarze delecji."},"cs":{"name":"Monozomie Xp21","synonyms":["Del(X)(p21)","Syndrom zahrnující deficit glycerol kinázy a přilehlých genů","Xp21 mikrodeleční syndrom"]},"uk":{"name":"Синдром делеції Xp21","synonyms":["Комплексний GKD","Дефіцит комплексної гліцеролкінази","Del(X)(p21)","Синдром делеції зчепленого гена Xp21","Синдром мікроделеції Xp21"],"definition":"A rare chromosomal anomaly characterized by complex glycerol kinase deficiency, congenital adrenal hypoplasia, intellectual disability and/or Duchenne muscular dystrophy that usually affect males. The clinical features depend on the deletion size and the number and type of involved genes."},"zh":{"name":"Xp21微缺失综合征","synonyms":["甘油激酶缺乏症-邻近基因综合征"],"definition":"Xp21微缺失综合征是一种罕见的染色体异常，其特征是复合型甘油激酶缺乏，先天性肾上腺发育不全，智力障碍和/或Duchenne肌营养不良，通常影响男性。临床特征取决于缺失片段的大小和涉及的基因的数量和类型。"},"tr":{"name":"Xp21 mikrodelesyon sendromu","synonyms":["Del (X) (p21)","Xp21 bitişik gen delesyon sendromu","Gliserol kinaz eksikliği-bitişik gen sendromu"]}},"xrefs":[{"source":"OMIM","code":"300679","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q99.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD51","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1814241205"},{"source":"MONDO","code":"0010399","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4505291","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":284408,"name":"OBSOLETE: Glycerol kinase deficiency, infantile form","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":595337,"name":"Adrenal hypoplasia congenita","classifications":[156,193]},{"orpha":308993,"name":"Glycerol kinase deficiency","classifications":[150,156]},{"orpha":263731,"name":"Partial deletion of the short arm of the chromosome X syndrome","classifications":[147,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25917374[PMID]"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":100.0,"area":"Worldwide","status":"Validated","source":"25917374[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2015-11-23","source":"9188656[PMID]_7750200[PMID]_6315281[PMID]_3766905[PMID]_6249182[PMID]_2852474[PMID]_200232[PMID]_25917374[PMID]_2883886[PMID]","terms":[{"hpo":"HP:0000846","label":"Adrenal insufficiency","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003236","label":"Elevated circulating creatine kinase concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002155","label":"Hypertriglyceridemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000044","label":"Hypogonadotropic hypogonadism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001993","label":"Ketoacidosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003198","label":"Myopathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002017","label":"Nausea and vomiting","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001319","label":"Neonatal hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000939","label":"Osteoporosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008207","label":"Primary adrenal insufficiency","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004349","label":"Reduced bone mineral density","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008981","label":"Calf muscle hypertrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001289","label":"Confusion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003199","label":"Decreased muscle mass","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000565","label":"Esotropia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000232","label":"Everted lower lip vermilion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040019","label":"Finger clinodactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001274","label":"Agenesis of corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005949","label":"Apneic episodes in infancy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001259","label":"Coma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003738","label":"Exercise-induced myalgia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000540","label":"Hypermetropia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003750","label":"Increased muscle fatiguability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000403","label":"Recurrent otitis media","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null}]}}