{"orpha":699,"name":"Pearson syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["PMPS","Pearson marrow-pancreas syndrome"],"definition":"A rare mitochondrial oxidative phosphorylation disorder due to large-scale single deletion of mitochondrial DNA characterized by hyporegenerative anemia in early infancy with vacuolization of bone marrow precursors, lactic acidosis and multi-organ dysfunctions such as exocrine pancreatic dysfunction, and renal tubulopathy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-699/","orphanet_url":"https://www.orpha.net/en/disease/detail/699","names":{"fr":{"name":"Syndrome de Pearson","synonyms":["Syndrome de Pearson moelle-pancreas"],"definition":"Anomalie rare de la phosphorylation oxydative mitochondriale due à une large délétion unique de l'ADN mitochondrial, caractérisée par une anémie hyporégénérative dans la petite enfance avec vacuolisation des précurseurs de la moelle osseuse, une acidose lactique et des dysfonctionnements de plusieurs organes tels qu'une insuffisance pancréatique exocrine et une tubulopathie rénale."},"de":{"name":"Pearson-Syndrom","synonyms":["PMPS","Pearson-Knochenmark-Pankreas-Syndrom"],"definition":"Eine seltene mitochondriale Störung der oxidativen Phosphorylierung aufgrund einer großen (large-scale) Einzeldeletion der mitochondrialen DNA, die durch eine hyporegenerative Anämie im frühen Kindesalter mit Vakuolisierung der Knochenmarkvorläufer, Laktatazidose und Multiorganstörungen wie exokrine Pankreasdysfunktion und renale Tubulopathie gekennzeichnet ist."},"es":{"name":"Síndrome de Pearson","synonyms":["Síndrome médula-páncreas de Pearson"],"definition":"Es un trastorno poco frecuente de la fosforilación oxidativa mitocondrial debido a una deleción de ADN mitocondrial única a gran escala caracterizado por anemia hiporregenerativa en la primera infancia con vacuolización de precursores hematopoyéticos, acidosis láctica y disfunción multiorgánica, como insuficiencia pancreática exocrina y tubulopatía renal."},"it":{"name":"Sindrome di Pearson","synonyms":["PMPS","Sindrome di Pearson midollo-pancreas"]},"nl":{"name":"Syndroom van Pearson","synonyms":["Beenmerg - pancreas-syndroom van Pearson","PMPS"],"definition":"Een zeldzame stoornis van mitochondriale oxidatieve fosforylatie door één enkele grootschalige deletie van mitochondriaal DNA, gekenmerkt door hyporegeneratieve anemie in de vroege zuigelingentijd met vacuolisatie van precursoren in beenmerg, lactaatacidose en disfunctie van meerdere organen zoals exocriene pancreas, en niertubulopathie."},"pt":{"name":"Síndrome Pearson","synonyms":["PMPS","Síndrome medula-pâncreas Pearson"],"definition":"Distúrbio raro da fosforilação oxidativa mitocondrial devido a uma grande deleção única no DNA mitocondrial e caracterizado por anemia hiporregenerativa na primeira infância com vacuolização de precursores da medula óssea, acidose láctica e disfunções de múltiplos órgãos, como disfunção pancreática exócrina e tubulopatia renal."},"pl":{"name":"Zespół Pearsona","synonyms":["PMPS","Pearson marrow-pancreas syndrome"],"definition":"Rzadkie zaburzenie mitochondrialnej fosforylacji oksydacyjnej spowodowane pojedynczą delecją mitochondrialnego DNA, charakteryzujące się niedokrwistością hiporegeneracyjną we wczesnym niemowlęctwie z wakuolizacją prekursorów szpiku kostnego, kwasicą mleczanową i dysfunkcjami wielonarządowymi, w tym zewnątrzwydzielniczą dysfunkcją trzustki i tubulopatią nerkową."},"cs":{"name":"Pearsonův syndrom","synonyms":["PMPS","Pearson marrow-pancreas syndrome"]},"uk":{"name":"Синдром Пірсона","synonyms":["Синдром кісткового мозку-підшлункової залози Пірсона","PMPS"],"definition":"A rare mitochondrial oxidative phosphorylation disorder due to large-scale single deletion of mitochondrial DNA characterized by hyporegenerative anemia in early infancy with vacuolization of bone marrow precursors, lactic acidosis and multi-organ dysfunctions such as exocrine pancreatic dysfunction, and renal tubulopathy."},"zh":{"name":"Pearson综合征"},"tr":{"name":"Pearson sendromu"}},"xrefs":[{"source":"OMIM","code":"557000","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D64.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"3A72.01","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"452521132"},{"source":"MONDO","code":"0010797","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0342784","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7343","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10062941","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":98362,"name":"Constitutional sideroblastic anemia","classifications":[156,194]},{"orpha":104013,"name":"Metabolic disease with intestinal involvement","classifications":[152,156]},{"orpha":254767,"name":"Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA","classifications":[150,156]},{"orpha":181402,"name":"Syndrome with hypoparathyroidism","classifications":[156,193]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Mitochondrial inheritance","Not applicable"],"onset":["Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.004,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":194.0,"area":"Worldwide","status":"Validated","source":"33837965[PMID]_36820126[PMID]_ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-03-20","source":"20301382[PMID]_29337599[PMID]","terms":[{"hpo":"HP:0005561","label":"Abnormality of bone marrow cell morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005528","label":"Bone marrow hypocellularity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001875","label":"Decreased total neutrophil count","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0032653","label":"Elevated lactate:pyruvate ratio","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003348","label":"Hyperalaninemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003648","label":"Lacticaciduria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001923","label":"Reticulocytosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0032169","label":"Severe infection","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001627","label":"Abnormal heart morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000707","label":"Abnormality of the nervous system","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001638","label":"Cardiomyopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012040","label":"Corneal stromal edema","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001738","label":"Exocrine pancreatic insufficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002490","label":"Increased CSF lactate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002151","label":"Increased circulating lactate concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008897","label":"Postnatal growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000083","label":"Renal insufficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001518","label":"Small for gestational age","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001873","label":"Thrombocytopenia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001392","label":"Abnormality of the liver","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008936","label":"Axial hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031546","label":"Cardiac conduction abnormality","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002028","label":"Chronic diarrhea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000824","label":"Decreased response to growth hormone stimulation test","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0032066","label":"Decreased serum bicarbonate concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001944","label":"Dehydration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002376","label":"Developmental regression","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000819","label":"Diabetes mellitus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002910","label":"Elevated circulating hepatic transaminase concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003076","label":"Glycosuria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001399","label":"Hepatic failure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001397","label":"Hepatic steatosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001789","label":"Hydrops fetalis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002901","label":"Hypocalcemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002900","label":"Hypokalemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002917","label":"Hypomagnesemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002148","label":"Hypophosphatemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000821","label":"Hypothyroidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003128","label":"Lactic acidosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200118","label":"Malabsorption of Vitamin B12","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000602","label":"Ophthalmoplegia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100732","label":"Pancreatic fibrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001876","label":"Pancytopenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000580","label":"Pigmentary retinopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002033","label":"Poor suck","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000093","label":"Proteinuria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002570","label":"Steatorrhea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000846","label":"Adrenal insufficiency","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000957","label":"Cafe-au-lait spot","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000992","label":"Cutaneous photosensitivity","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000953","label":"Hyperpigmentation of the skin","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000829","label":"Hypoparathyroidism","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0006270","label":"Hypoplastic spleen","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0006577","label":"Macronodular cirrhosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0009099","label":"Median cleft palate","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000107","label":"Renal cyst","frequency":"Very rare (<4-1%)","criteria":null}]}}