{"orpha":2785,"name":"Osteopetrosis with renal tubular acidosis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Carbonic anhydrase 2 deficiency","Guibaud-Vainsel syndrome","Marble brain disease","Mixed RTA","Mixed renal tubular acidosis","Renal tubular acidosis type 3"],"definition":"Osteopetrosis with renal tubular acidosis is a rare disorder characterized by osteopetrosis, renal tubular acidosis (RTA), and neurological disorders related to cerebral calcifications.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2785/","orphanet_url":"https://www.orpha.net/en/disease/detail/2785","names":{"fr":{"name":"Ostéopétrose avec acidose tubulaire rénale","synonyms":["Acidose tubulaire rénale mixte","Acidose tubulaire rénale type 3","Déficit en anhydrase carbonique II","Syndrome de Guibaud-Vainsel"],"definition":"L'ostéopétrose avec acidose tubulaire rénale est une maladie rare caractérisée par une ostéopétrose , une acidose tubulaire rénale (ATR) et des troubles neurologiques liés aux calcifications cérébrales."},"de":{"name":"Osteopetrose mit renaler tubulärer Azidose","synonyms":["Azidose, renale tubuläre, Typ 3","Carbonanhydrase-II-Mangel","Gemischte renale tubuläre Azidose","Guibaud-Vainsel-Syndrom","RTA, gemischt"],"definition":"Die Osteopetrose mit renaler tubulärer Azidose ist eine seltene Krankheit mit Osteopetrose (siehe dort), renaler tubulärer Azidose (RTA) und neurologischen Störungen, die durch zerebrale Verkalkungen bedingt sind."},"es":{"name":"Osteopetrosis con acidosis tubular renal","synonyms":["Acidosis tubular renal mixta","Acidosis tubular renal tipo 3","Deficiencia de anhidrasa carbónica 2","Enfermedad del cerebro de mármol","RTA mixta","Síndrome de Guibaud-Vainsel"],"definition":"La osteopetrosis con acidosis tubular renal es una enfermedad rara que se caracteriza por osteopetrosis (consulte este término), acidosis tubular renal (ATR) y trastornos neurológicos relacionados con las calcificaciones cerebrales."},"it":{"name":"Osteopetrosi con acidosi tubolare renale","synonyms":["Acidosi tubolare renale mista","Acidosi tubolare renale, tipo 3","Deficit di anidrasi carbonica 2","Malattia del cervello di marmo","RTA mista","Sindrome di Guibaud-Vainsel"],"definition":"L'osteopetrosi con acidosi tubulare renale è una malattia rara caratterizzata da osteopetrosi (si veda questo termine), acidosi tubulare renale (RTA), e disturbi neurologici legati alle calcificazioni cerebrali."},"nl":{"name":"Osteopetrose met renale tubulaire acidose","synonyms":["Gemengde RTA","Gemengde renale tubulaire acidose","Koolzuuranhydrase 2-deficiëntie","Renale tubulaire acidose type 3","Syndroom van Guibaud-Vainsel"],"definition":"Een zeldzame aandoening, gekarakteriseerd door osteopetrose, renale tubulaire acidose (RTA), en neurologische aandoeningen gerelateerd een cerebrale calcificaties."},"pt":{"name":"Osteopetrose com acidose tubular renal","synonyms":["Acidose tubular renal mista","Deficiência de anidrase carbónica 2","RTA mista","Síndrome Guibaud-Vainsel"]},"pl":{"name":"Osteopetroza z kwasicą kanalików nerkowych","synonyms":["Kwasica kanalików nerkowych typu 3","Marmurowa choroba mózgu","Mieszana kwasica kanalików nerkowych","Mieszana RTA","Niedobór anhydrazy węglanowej 2","Zespół Guibauda i Vainsela"]},"cs":{"name":"Osteopetróza s renální tubulární acidózou","synonyms":["Deficit karboanhydrázy 2","Guibaudův-Vainselův syndrom","Guibaud-Vainselův syndrom"]},"uk":{"name":"Остеопетроз з нирковим тубулярним ацидозом","synonyms":["Дефіцит карбоангідрази 2","Синдром Гібо-Вейнселя","Мармурова хвороба мозку","Змішаний нирковий тубулярний ацидоз","Змішаний RTA","Нирковий тубулярний ацидоз типу 3"],"definition":"Osteopetrosis with renal tubular acidosis is a rare disorder characterized by osteopetrosis (see this term), renal tubular acidosis (RTA), and neurological disorders related to cerebral calcifications."},"zh":{"name":"骨硬化症伴肾小管性酸中毒","synonyms":["碳酸酐酶2缺乏症"]},"tr":{"name":"Renal tübüler asidozlu osteopetroz","synonyms":["Karma RTA","Mermer beyin hastalığı","Guibaud-Vainsel sendromu","Karma renal tübüler asidoz","Renal tübüler asidoz tip 3","Karbonik anhidraz 2 eksikliği"]}},"xrefs":[{"source":"OMIM","code":"259730","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"267200","qualifier":"BTNT","icd_relation":null,"validated":false},{"source":"ICD-10","code":"Q78.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.10","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1187356117"},{"source":"MONDO","code":"0009818","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"9818","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536058","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0345407","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4154","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":2781,"name":"Osteopetrosis and related disorders","classifications":[147,156,199,233]},{"orpha":314822,"name":"Primary renal tubular acidosis","classifications":[156,188]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"CA2","name":"carbonic anhydrase 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"1373","ensembl":"ENSG00000104267","omim":"611492","loci":["8q21.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":100.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-10-11","source":"30109220[PMID]_28761241[PMID]_29571443[PMID]","terms":[{"hpo":"HP:0012379","label":"Abnormal enzyme/coenzyme activity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011002","label":"Osteopetrosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001947","label":"Renal tubular acidosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002135","label":"Basal ganglia calcification","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002514","label":"Cerebral calcification","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001293","label":"Cranial nerve compression","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008341","label":"Distal renal tubular acidosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003236","label":"Elevated circulating creatine kinase concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003148","label":"Elevated serum acid phosphatase","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002901","label":"Hypocalcemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002049","label":"Proximal renal tubular acidosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002757","label":"Recurrent fractures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002518","label":"Abnormal periventricular white matter morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000479","label":"Abnormal retinal morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000592","label":"Blue sclerae","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005528","label":"Bone marrow hypocellularity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000248","label":"Brachycephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006824","label":"Cranial nerve paralysis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005461","label":"Craniofacial disproportion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004445","label":"Elliptocytosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030812","label":"Enlarged tonsils","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000126","label":"Hydronephrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001882","label":"Leukopenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000400","label":"Macrotia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000160","label":"Narrow mouth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000787","label":"Nephrolithiasis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001562","label":"Oligohydramnios","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001876","label":"Pancytopenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000767","label":"Pectus excavatum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006335","label":"Persistence of primary teeth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001357","label":"Plagiocephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012370","label":"Prominence of the zygomatic bone","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006641","label":"Prominent floating ribs","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011220","label":"Prominent forehead","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001105","label":"Retinal atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000278","label":"Retrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000867","label":"Secondary hyperparathyroidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001328","label":"Specific learning disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000179","label":"Thick lower lip vermilion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002684","label":"Thickened calvaria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001873","label":"Thrombocytopenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000692","label":"Tooth malposition","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000405","label":"Conductive hearing impairment","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012181","label":"Entrapment neuropathy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001942","label":"Metabolic acidosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002870","label":"Obstructive sleep apnea","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002092","label":"Pulmonary arterial hypertension","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002273","label":"Tetraparesis","frequency":"Very rare (<4-1%)","criteria":null}]}}