{"orpha":77297,"name":"Majeed syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Chronic recurrent multifocal osteomyelitis-congenital dyserythropoietic anemia-neutrophilic dermatosis syndrome"],"definition":"Majeed syndrome is a rare genetic multisystemic disorder characterized by chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia, which may be accompanied by neutrophilic dermatosis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-77297/","orphanet_url":"https://www.orpha.net/en/disease/detail/77297","names":{"fr":{"name":"Syndrome de Majeed","synonyms":["Syndrome d'ostéomyélite multifocale récurrente chronique-anémie dysérythropoïétique congénitale-dermatose neutrophile"],"definition":"Le syndrome de Majeed est un trouble génétique multisystémique rare caractérisé par une ostéomyélite multifocale chronique récurrente et une anémie dysérythropoïétique congénitale, pouvant s'accompagner d'une dermatose neutrophilique."},"de":{"name":"Majeed-Syndrom","synonyms":["Osteomyelitis, chronische multifokale rezidivierende - kongenitale dyserythropoetische Anämie - neutrophile Dermatose"],"definition":"Das Majeed-Syndrom ist eine seltene genetische Multisystemerkrankung, die durch eine chronisch rezidivierende multifokale Osteomyelitis und eine kongenitale dyserythropoetische Anämie gekennzeichnet ist, die von einer neutrophilen Dermatose begleitet sein kann."},"es":{"name":"Síndrome de Majeed","definition":"El síndrome de Majeed es un trastorno multisistémico, genético y poco frecuente, caracterizado por osteomielitis multifocal crónica recurrente y anemia diseritropoyética congénita, que puede estar acompañada de dermatosis neutrofílica."},"it":{"name":"Sindrome di Majeed","synonyms":["Osteomielite cronica ricorrente multifocale - anemia diseritropoietica congenita - dermatosi neutrofila"],"definition":"La sindrome di Majeed è una malattia multisistemica rara di origine genetica, caratterizzata da osteomielite cronica multifocale ricorrente, anemia diseritropoietica congenita, talvolta associate a dermatosi neutrofila."},"nl":{"name":"Syndroom van Majeed","synonyms":["Chronische terugkerende multifocale osteomyelitis - congenitale dyserytropoëtische anemie - neutrofiele dermatose-syndroom"],"definition":"Syndroom van Majeed is een zeldzame genetische multisystemische aandoening die gekarakteriseerd wordt door chronische terugkerende multifocale osteomyelitis en congenitale dyserytropoëtische anemie, die vergezeld kunnen worden door neutrofiele dermatose."},"pt":{"name":"Síndrome de Majeed","synonyms":["Osteomielite multifocal recorrente crónica - anemia diseritropoiética congénita - dermatose neutrofílica"]},"pl":{"name":"Zespół Majeed","synonyms":["Przewlekłe nawracające zapalenie kości i szpiku - wrodzona niedokrwistość dyserytropoetyczna - neutrofilowe zapalenie skóry"]},"cs":{"name":"Majeedův syndrom","synonyms":["Syndrom zahrnující chronickou rekurentní multifokální osteomyelitidu, vrozenou dyserytropoetickou anémii a neutrofilní dermatózu"]},"uk":{"name":"Синдром Маджида","synonyms":["Синдром хронічного рецидивуючого мультифокального остеомієліту - вродженої дизеритропоетичної анемії - нейтрофільного дерматозу"],"definition":"Majeed syndrome is a rare genetic multisystemic disorder characterized by chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia, which may be accompanied by neutrophilic dermatosis."},"zh":{"name":"Majeed综合征","synonyms":["慢性复发性多灶性骨髓炎-先天性纯红细胞再生障碍性贫血-嗜中性皮病综合征"]},"tr":{"name":"Majeed sendromu","synonyms":["Kronik tekrarlayan multifokal osteomiyelit-Doğumsal diseritropoietik anemi-nötrofilik dermatoz sendromu"]}},"xrefs":[{"source":"OMIM","code":"609628","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D84.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4A00.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1316564349"},{"source":"MONDO","code":"0012316","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537839","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1864997","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10088","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10072223","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98023,"name":"Rare systemic or rheumatologic disease"},"parents":[{"orpha":290839,"name":"Autoinflammatory syndrome with immune deficiency","classifications":[156,195]},{"orpha":290842,"name":"Autoinflammatory syndrome with skin involvement","classifications":[187]},{"orpha":293830,"name":"Constitutional dyserythropoietic anemia","classifications":[156,194]},{"orpha":622720,"name":"Genetic autoinflammatory syndrome with skin involvement","classifications":[156]},{"orpha":498445,"name":"Genetic inflammatory or rheumatoid-like osteoarthropathy","classifications":[147,156,199]},{"orpha":324927,"name":"Pyogenic autoinflammatory syndrome","classifications":[196]},{"orpha":324942,"name":"Pyogenic autoinflammatory syndrome of childhood","classifications":[231]},{"orpha":619238,"name":"Rare hereditary autoinflammatory disease","classifications":[156]}],"children":[],"genes":[{"symbol":"LPIN2","name":"lipin 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"14450","ensembl":"ENSG00000101577","omim":"605519","loci":["18p11.31"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"20301735[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_20301735[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":"20301735[PMID]","terms":[{"hpo":"HP:0012647","label":"Abnormal inflammatory response","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005561","label":"Abnormality of bone marrow cell morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002829","label":"Arthralgia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002653","label":"Bone pain","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004326","label":"Cachexia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004810","label":"Congenital hypoplastic anemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004840","label":"Hypochromic microcytic anemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003025","label":"Metaphyseal irregularity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002754","label":"Osteomyelitis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200034","label":"Papule","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200039","label":"Pustule","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001061","label":"Acne","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000969","label":"Edema","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002315","label":"Headache","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011001","label":"Increased bone mineral density","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001974","label":"Increased total leukocyte count","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003326","label":"Myalgia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100769","label":"Synovitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012735","label":"Cough","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001371","label":"Flexion contracture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100820","label":"Glomerulopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002659","label":"Increased susceptibility to fractures","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011123","label":"Inflammatory abnormality of the skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002024","label":"Malabsorption","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002907","label":"Microscopic hematuria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000093","label":"Proteinuria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002113","label":"Pulmonary infiltrates","frequency":"Occasional (29-5%)","criteria":null}]}}