{"orpha":71275,"name":"Rh deficiency syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Rh-null syndrome"],"definition":"A rare constitutional hemolytic anemia due to a red cell membrane anomaly characterized by lack or severe reduction of Rh blood group antigens, resulting in increased osmotic fragility of red blood cells and chronic hemolytic anemia of varying severity with stomatocytosis and spherocytosis. Two types of the syndrome arising from independent genetic mechanisms have been distinguished: the regulator type is caused by defects of the Rh associated glycoprotein (encoded by the <i>RHAG</i> gene), while the amorph type is due to mutations at the <i>RH</i> locus itself.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-71275/","orphanet_url":"https://www.orpha.net/en/disease/detail/71275","names":{"fr":{"name":"Syndrome de déficit Rh","definition":"Anémie hémolytique constitutionnelle rare due à une anomalie de la membrane des globules rouges caractérisée par une absence ou une baisse sévère des antigènes du groupe sanguin Rh, à l'origine d'une augmentation de la fragilité osmotique des globules rouges d'une anémie hémolytique chronique de sévérité variable avec stomatocytose et sphérocytose. On distingue deux types de syndrome résultant de mécanismes génétiques indépendants : le type « régulateur » est dû à des défauts de la glycoprotéine associée au Rh (codée par le gène <i>RHAG</i>), tandis que le type « amorphe » est dû à des mutations au niveau du locus <i>RH</i> lui-même."},"de":{"name":"Rh-null-Syndrom","synonyms":["Rh-Mangel-Syndrom"],"definition":"Eine seltene konstitutionelle hämolytische Anämie aufgrund einer Anomalie der Erythrozytenmembran, die durch das Fehlen oder eine starke Verminderung der Rh-Blutgruppenantigene gekennzeichnet ist und zu einer erhöhten osmotischen Fragilität der roten Blutkörperchen und einer chronischen hämolytischen Anämie unterschiedlichen Schweregrades mit Statozytose und Sphärozytose führt. Es werden zwei Typen des Syndroms unterschieden, die auf unabhängigen genetischen Mechanismen beruhen: Der regulatorische Typ wird durch Defekte des Rh-assoziierten Glykoproteins (kodiert durch das <i>RHAG</i>-Gen) verursacht, während der amorphe Typ durch Mutationen am <i>RH</i>-Locus selbst verursacht wird."},"es":{"name":"Síndrome de deficiencia de Rh","definition":"Es una anemia hemolítica constitucional poco frecuente debida a un defecto de membrana eritrocitaria. Se caracteriza por una ausencia o disminución grave de los antígenos del grupo sanguíneo Rh, cuya consecuencia es un aumento de la fragilidad osmótica de los hematíes con anemia hemolítica crónica de intensidad variable y presencia de estomatocitosis y esferocitosis. Se han distinguido dos tipos de síndrome que resultan de mecanismos genéticos independientes: el tipo regulador está causado por defectos de la glicoproteína asociada a Rh (codificada por el gen <i>RHAG</i>), y el tipo amorfo que obedece a mutaciones del propio locus <i>RH</i>."},"it":{"name":"Sindrome da deficit di Rh","synonyms":["Sindrome del Rh null"],"definition":"Si tratta di un'anemia emolitica costituzionale rara, secondaria ad un'anomalia della membrana degli eritrociti, caratterizzata dall'assenza o dalla marcata riduzione degli antigeni del gruppo sanguigno Rh, che esita in un aumento della fragilità osmotica degli eritrociti e nell'anemia emolitica cronica di gravità variabile, con stomatocitosi e sferocitosi. Si distinguono due tipi della sindrome, dovuti a meccanismi genetici indipendenti: il tipo regolatore, causato dai difetti della glicoproteina associata all'Rh (codificata dal gene <i>RHAG</i>), e il tipo amorfo, causato dalle mutazioni del locus <i>RH</i>."},"nl":{"name":"Rh-deficiëntiesyndroom","synonyms":["Rh-nulsyndroom"],"definition":"Een zeldzame constitutionele hemolytische anemie als gevolg van een anomalie van membraan van rode bloedcellen, gekarakteriseerd door gebrek aan of ernstige reductie van Rh bloedgroepantigenen, wat resulteert in verhoogde osmotische fragiliteit van rode bloedcellen en chronische hemolytische anemie met variabele gradaties van ernst met stomatocytose en sferocytose. Er worden twee types van het syndroom onderscheiden, die worden veroorzaakt door onafhankelijke genetische mechanismes: het regulator-type wordt veroorzaakt door defecten van Rh-geassocieerd glycoproteïne (gecodeerd door het gen <i>RHAG</i>), terwijl het amorfe type het gevolg is van mutaties ter hoogte van de <i>RH</i>-locus zelf."},"pt":{"name":"Síndrome de deficiência de Rh","synonyms":["Síndrome de Rh nulo"]},"pl":{"name":"Zespół niedoboru Rh","synonyms":["Rh-null syndrome"]},"cs":{"name":"Syndrom deficitu Rh antigenů","synonyms":["Syndrom nepřítomnosti Rh antigenů"]},"uk":{"name":"Синдром резус-дефіциту","synonyms":["Синдром резус-негативності"],"definition":"A rare constitutional hemolytic anemia due to a red cell membrane anomaly characterized by lack or severe reduction of Rh blood group antigens, resulting in increased osmotic fragility of red blood cells and chronic hemolytic anemia of varying severity with stomatocytosis and spherocytosis. Two types of the syndrome arising from independent genetic mechanisms have been distinguished: the regulator type is caused by defects of the Rh associated glycoprotein (encoded by the <i>RHAG</i> gene), while the amorph type is due to mutations at the <i>RH</i> locus itself."},"zh":{"name":"Rh缺乏综合征","synonyms":["Rh因子缺乏综合征"]},"tr":{"name":"Rh eksikliği sendromu","synonyms":["Rh-null sendromu"]}},"xrefs":[{"source":"OMIM","code":"268150","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617970","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619462","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D58.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"3A10.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1554765420"},{"source":"MONDO","code":"0019107","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C562717","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0272052","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12916","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97992,"name":"Rare hematologic disease"},"parents":[{"orpha":98365,"name":"Hereditary stomatocytosis","classifications":[156,194]}],"children":[],"genes":[{"symbol":"RHAG","name":"Rh associated glycoprotein","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"8563755[PMID]_9716608[PMID]","hgnc":"10006","ensembl":"ENSG00000112077","omim":"180297","loci":["6p12.3"]},{"symbol":"RHCE","name":"Rh blood group CcEe antigens","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"9657766[PMID]_9657769[PMID]","hgnc":"10008","ensembl":"ENSG00000188672","omim":"111700","loci":["1p36.11"]},{"symbol":"RHD","name":"Rh blood group D antigen","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"9657769[PMID]","hgnc":"10009","ensembl":"ENSG00000187010","omim":"111680","loci":["1p36.11"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["No data available"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-09-16","source":"32378229[PMID]_25413218[PMID]_32484254[PMID]","terms":[{"hpo":"HP:0001878","label":"Hemolytic anemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005502","label":"Increased red cell osmotic fragility","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0032366","label":"Positive direct antiglobulin test","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0020181","label":"Reduced haptoglobin level","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001923","label":"Reticulocytosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002904","label":"Hyperbilirubinemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0032231","label":"Hypochromia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025435","label":"Increased circulating lactate dehydrogenase concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004444","label":"Spherocytosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004446","label":"Stomatocytosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011273","label":"Anisocytosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001433","label":"Hepatosplenomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012418","label":"Hypoxemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000952","label":"Jaundice","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001562","label":"Oligohydramnios","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005268","label":"Spontaneous abortion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001649","label":"Tachycardia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002789","label":"Tachypnea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001972","label":"Macrocytic anemia","frequency":"Very rare (<4-1%)","criteria":null}]}}