{"orpha":88618,"name":"S-adenosylhomocysteine hydrolase deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, multisystemic inherited metabolic disease characterized clinically, by a variable spectrum of severity, primarily comprised of psychomotor delay, myopathy and liver dysfunction. Most patients present in infancy, but the onset can be already <i>in utero</i> or in adult age. Hypermethioninemia is frequent, but often absent in infancy. Creatine kinase is elevated in most patients.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-88618/","orphanet_url":"https://www.orpha.net/en/disease/detail/88618","names":{"fr":{"name":"Déficit en S-adénosylhomocystéine hydrolase","definition":"Maladie métabolique héréditaire multisystémique rare caractérisée, sur le plan clinique, par un spectre de sévérité variable, principalement à type de retard psychomoteur, de myopathie et de dysfonctionnement hépatique. Dans la plupart des cas, la maladie se déclare pendant la petite enfance mais elle peut aussi se déclarer <i>in utero</i> ou à l'âge adulte. Une hyperméthioninémie est fréquente, bien qu'elle soit souvent absente pendant la petite enfance. Le taux de créatine kinase est élevé chez la plupart des patients."},"de":{"name":"S-Adenosylhomocystein-Hydrolase-Defizienz","definition":"Eine hereditäre multisystemische Stoffwechselerkrankung, die sich klinisch durch ein unterschiedliches Spektrum von Schweregraden auszeichnet und hauptsächlich psychomotorische Verzögerungen, Myopathie und Leberfunktionsstörungen umfasst. Die meisten Patienten werden im Säuglingsalter vorgestellt, aber der Beginn kann bereits <i>in utero</i> oder im Erwachsenenalter sein. Hypermethioninämie ist häufig, aber im Säuglingsalter oft nicht vorhanden. Die Kreatinkinase ist bei den meisten Patienten erhöht."},"es":{"name":"Deficiencia de S-adenosilhomocisteína hidrolasa","definition":"Es una enfermedad metabólica hereditaria multisistémica y poco frecuente que se caracteriza clínicamente por un espectro variable de gravedad, que incluye principalmente retraso psicomotor, miopatía y disfunción hepática. En la mayoría de pacientes, la enfermedad debuta en la infancia, aunque puede aparecer en el útero o en la edad adulta. La hipermetioninemia es frecuente, pero a menudo está ausente en el periodo de lactancia. La creatinquinasa está elevada en la mayoría de los pacientes."},"it":{"name":"Deficit di S-adenosilomocisteina idrolasi","definition":"Il deficit di S-adenosilomocisteina idrolasi (SAHH) è una malattia metabolica multisistemica ereditaria rara, caratterizzata, dal punto di vista clinico, da ritardo psicomotorio, miopatia e disfunzione epatica di gravità variabile. Nella maggior parte dei pazienti la malattia esordisce nella prima infanzia, ma può manifestarsi anche <i>in utero</i> o nell'età adulta. L'ipermetioninemia è comune, ma spesso è assente nella prima infanzia. Nella maggior parte dei pazienti la creatin-chinasi è elevata."},"nl":{"name":"Deficiëntie van S-adenosylhomocysteïnehydrolase","definition":"Een zeldzame, multisystemische erfelijke metabole aandoening, klinisch gekenmerkt door een variabel spectrum va ernst, voornamelijk bestaande uit psychomotorische achterstand, myopathie, en leverdisfunctie. De meeste patiënten presenteren zich in de zuigelingentijd, maar de ziekte kan reeds <i>in utero</i> aanvangen, of op volwassen leeftijd. Hypermethioninemie komt geregeld voor, maar is vaak afwezig in de zuigelingentijd. Het gehalte van creatinekinase is verhoogd bij de meeste patiënten."},"pt":{"name":"Deficiência de S-adenosil-homocisteína hidrolase"},"pl":{"name":"Niedobó hydrolazy S-adenozylohomocysteiny","synonyms":["Hipermetioninemia spowodowana niedoborem hydrolazy S-adenozylolhomocysteiny"]},"cs":{"name":"Psychomotorická retardace způsobená deficitem S-adenosylhomocystein hydrolázy","synonyms":["Hypermethioninemie způsobená deficitem S-adenosylhomocystein hydrolázy"]},"uk":{"name":"Дефіцит S-аденозилгомоцистеїн гідролази","definition":"A rare, multisystemic inherited metabolic diseases characterized clinically, by a variable spectrum of severity, primarily comprised of psychomotor delay, myopathy and liver dysfunction. Most patients present in infancy, but the onset can be already <i>in utero</i> or in adult age. Hypermethioninemia is frequent, but often absent in infancy. Creatine kinase is elevated in most patients."},"zh":{"name":"s-腺苷半胱氨酸水解酶缺乏所致精神运动迟缓","synonyms":["S-腺苷高半胱氨酸水解酶所致高蛋氨酸血症"]},"tr":{"name":"S-adenosilhomosistein hidrolaz eksikliğine bağlı psikomotor gecikme","synonyms":["S-adenozilhomosistein hidrolaz eksikliğine bağlı hipermetiyoninemi"]}},"xrefs":[{"source":"OMIM","code":"613752","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E72.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C50.B","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"215404985"},{"source":"MONDO","code":"0013404","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3151058","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"13177","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":79173,"name":"Disorder of methionine cycle and sulfur amino acid metabolism","classifications":[150,156]},{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]}],"children":[],"genes":[{"symbol":"AHCY","name":"adenosylhomocysteinase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"16435181[PMID]","hgnc":"343","ensembl":"ENSG00000101444","omim":"180960","loci":["20q11.22"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Adult","Antenatal","Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":15.0,"area":"Worldwide","status":"Validated","source":"2380820[PMID]_15024124[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_2380820[PMID]_15024124[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-03-29","source":"2380820[PMID]_28168361[PMID]_27671891[PMID]_26527160[PMID]_15024124[PMID]","terms":[{"hpo":"HP:0010919","label":"Abnormality of homocysteine metabolism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010901","label":"Abnormality of methionine metabolism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002910","label":"Elevated circulating hepatic transaminase concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002160","label":"Hyperhomocystinemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003073","label":"Hypoalbuminemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001928","label":"Abnormality of coagulation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001392","label":"Abnormality of the liver","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003429","label":"CNS hypomyelination","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001321","label":"Cerebellar hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012448","label":"Delayed myelination","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002376","label":"Developmental regression","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003236","label":"Elevated circulating creatine kinase concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011996","label":"Elevated coagulation factor V activity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000565","label":"Esotropia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008947","label":"Floppy infant","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001789","label":"Hydrops fetalis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030890","label":"Hyperintensity of cerebral white matter on MRI","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011900","label":"Hypofibrinogenemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002079","label":"Hypoplasia of the corpus callosum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012110","label":"Hypoplasia of the pons","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003560","label":"Muscular dystrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002421","label":"Poor head control","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008151","label":"Prolonged prothrombin time","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001976","label":"Reduced antithrombin III activity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008169","label":"Reduced factor VII activity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000736","label":"Short attention span","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010719","label":"Abnormality of hair texture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001638","label":"Cardiomyopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001402","label":"Hepatocellular carcinoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003235","label":"Hypermethioninemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001763","label":"Pes planus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002878","label":"Respiratory failure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007141","label":"Sensorimotor neuropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012704","label":"Widened subarachnoid space","frequency":"Occasional (29-5%)","criteria":null}]}}