{"orpha":440713,"name":"Isolated sedoheptulokinase deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Isolated SHPK deficiency"],"definition":"A rare, hereditary disorder of pentose phosphate metabolism characterized by increased urine levels of sedoheptulose and erythritol, and low-to-normal excretion of sedoheptulose-7P. Clinical presentation of this disorder is currently unclear.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-440713/","orphanet_url":"https://www.orpha.net/en/disease/detail/440713","names":{"fr":{"name":"Déficit isolé en sédoheptulose kinase","synonyms":["Déficit isolé en SHPK"],"definition":"Trouble rare et héréditaire du métabolisme des pentoses-phosphates caractérisé par des taux urinaires élevés de sédoheptulose et d'érythritol, et par une excrétion faible à normale de sédoheptulose-7-phosphate. La présentation clinique de ce trouble reste à élucider."},"de":{"name":"Sedoheptulose Kinase-Mangel, isolierte","synonyms":["SHPK-Mangel, isolierter"],"definition":"Eine seltene hereditäre Störung des Pentosephosphat-Stoffwechsels, die durch erhöhte Sedoheptulose- und Erythtirolwerte im Urin und eine geringe bis normale Ausscheidung von Sedoheptulose-7P gekennzeichnet ist. Das klinische Erscheinungsbild dieser Störung ist derzeit unklar."},"es":{"name":"Deficiencia aislada de sedoheptuloquinasa","synonyms":["Deficiencia aislada de SHPK"],"definition":"Es un trastorno hereditario y poco frecuente del metabolismo de la fosfatasa pentosa caracterizado por un incremento de los niveles de sedoheptulosa y eritritol en orina y una excreción baja o normal de sedoheptulosa-7P. Actualmente, la presentación clínica de este trastorno es incierta."},"it":{"name":"Deficit isolato di sedoeptulosio chinasi","definition":"È una malattia ereditaria rara del metabolismo del pentoso fosfato, caratterizzata da un aumento dei livelli di sedoeptulosio ed eritritolo nelle urine e livelli normali o bassi di sedoeptulosio-7P. Il quadro clinico della malattia non è ancora chiaro."},"nl":{"name":"Geïsoleerde sedoheptulokinasedeficiëntie","synonyms":["Geïsoleerde SHPK-deficiëntie"],"definition":"Een zeldzame, erfelijke stoornis van het pentosefosfaatmetabolisme gekarakteriseerd dor verhoogde gehaltes van sedoheptulose en erythritol in de urine, en lage tot normale uitscheiding van of sedoheptulose-7P. Het klinisch beeld van deze stoornis is momenteel onduidelijk."},"pt":{"name":"Défice de sedoheptulocinase isolado"},"pl":{"name":"Izolowany Niedobór sedoheptulokinazy","synonyms":["Izolowany Niedobór SHPK"]},"cs":{"name":"Izolovaný deficit sedoheptulokinázy","synonyms":["Izolovaný deficit SHPK"]},"uk":{"name":"Ізольований дефіцит седогептулокінази","synonyms":["Ізольований дефіцит SHPK"],"definition":"A rare, hereditary disorder of pentose phosphate metabolism characterized by increased urine levels of sedoheptulose and erythritol, and low-to-normal excretion of sedoheptulose-7P. Clinical presentation of this disorder is currently unclear."},"zh":{"name":"孤立性景天庚酮糖激酶缺乏症","synonyms":["孤立性FSHPK缺乏"],"definition":"磷酸戊糖代谢异常的一种罕见的遗传性疾病，其特征在于尿中七庚二糖和赤藓醇的水平增加，以及景天庚酮糖-7磷酸化的排泄量低于正常。目前尚不清楚该疾病的临床表现。"},"tr":{"name":"İzole sedoheptülokinaz eksikliği","synonyms":["İzole SHPK eksikliği"]}},"xrefs":[{"source":"OMIM","code":"617213","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E74.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C51.0","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0014969","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1291373","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":79186,"name":"Disorder of pentose phosphate metabolism","classifications":[150,156]}],"children":[],"genes":[{"symbol":"SHPK","name":"sedoheptulokinase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25647543[PMID]","hgnc":"1492","ensembl":"ENSG00000197417","omim":"605060","loci":["17p13.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"25647543[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25647543[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-10-27","source":"25647543[PMID]","terms":[{"hpo":"HP:0002804","label":"Arthrogryposis multiplex congenita","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0001371","label":"Flexion contracture","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0012768","label":"Neonatal asphyxia","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0011400","label":"Abnormal CNS myelination","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000091","label":"Abnormal renal tubule morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100886","label":"Abnormality of globe location","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001623","label":"Breech presentation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001396","label":"Cholestasis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002611","label":"Cholestatic liver disease","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001540","label":"Diastasis recti","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012115","label":"Hepatitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000348","label":"High forehead","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001385","label":"Hip dysplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004840","label":"Hypochromic microcytic anemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000601","label":"Hypotelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000023","label":"Inguinal hernia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000239","label":"Large fontanelles","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001409","label":"Portal hypertension","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011998","label":"Postprandial hyperglycemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000083","label":"Renal insufficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008850","label":"Severe postnatal growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000586","label":"Shallow orbits","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002570","label":"Steatorrhea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012157","label":"Subcortical cerebral atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Frequent (79-30%)","criteria":null}]}}