{"orpha":99646,"name":"Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["MC-HGA"],"definition":"Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria is an extremely rare genetic disorder characterized by the unique association of enchondromatosis with D-2 hydroxyglutaric aciduria. Clinical features include enchondromatosis (with short stature, severe metaphyseal dysplasia and mild vertebral involvement), elevated levels of urinary 2-hydroxyglutaric acid and mild developmental delay.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-99646/","orphanet_url":"https://www.orpha.net/en/disease/detail/99646","names":{"fr":{"name":"Chondromatose métaphysaire avec acidurie D-2-hydroxyglutarique","synonyms":["MC-HGA"],"definition":"Maladie génétique extrêmement rare caractérisée par l'association unique d'une enchondromatose et d'une acidurie D-2-hydroxyglutarique. Les signes cliniques comprennent une enchondromatose (avec petite taille, dysplasie métaphysaire sévère et légère atteinte vertébrale), des taux élevés d'acide 2-hydroxyglutarique dans l'urine et un léger retard de développement."},"de":{"name":"Metaphysäre Chondromatose mit D-2-Hydroxy-Glutarazidurie","synonyms":["MC-HGA"],"definition":"Die metaphysäre Chondromatose mit D-2-Hydroxy-Glutarazidurie ist eine äußerst seltene genetische Erkrankung, die durch die einzigartige Assoziation der Enchondromatose mit der D-2-Hydroxy-Glutarazidurie gekennzeichnet ist (siehe diese Begriffe). Klinische Merkmale umfassen Enchondromatose (mit Kleinwuchs, schwerer metaphysärer Dysplasie und leichter Vertebralbeteiligung), erhöhte Konzentrationen von 2-Hydroxyglutarsäure im Urin und leichte Entwicklungsverzögerung."},"es":{"name":"Condromatosis metafisaria con aciduria D-2-hidroxiglutárica","synonyms":["MC-HGA"],"definition":"Es un trastorno genético extremadamente poco frecuente caracterizado por una combinación única de encondromatosis con aciduria D-2-hidroxiglutárica. Las características clínicas incluyen encondromatosis (con talla baja, displasia metafisaria grave y leve afectación vertebral), niveles elevados de ácido 2-hidroxiglutárico en orina y leve retraso en el desarrollo."},"it":{"name":"Condromatosi metafisaria con aciduria D-2-idrossiglutarica","synonyms":["MC-HGA"],"definition":"La condromatosi metafisaria con aciduria D-2-idrossiglutarica è una malattia genetica molto rara caratterizzata dalla peculiare associazione tra encondromatosi e aciduria D-2-idrossiglutarica (si vedano questi termini). I segni clinici comprendono l'encondromatosi (con bassa statura, grave displasia metafisaria e lieve interessamento vertebrale), livelli elevati di acido 2-idrossiglutarico nelle urine e lieve ritardo dello sviluppo."},"nl":{"name":"Metafysaire chondromatose met D-2-hydroxyglutaaracidurie","synonyms":["MC-HGA"],"definition":"Metafysaire chondromatose met D-2-hydroxyglutaarzuuracidurie is een uiterst zeldzame genetische stoornis die wordt gekarakteriseerd door de unieke associatie van enchondromatose met D-2-hydroxyglutaarzuuracidurie (zie deze termen). Klinische kenmerken zijn onder meer enchondromatose (met kleine gestalte, ernstige metafysaire dysplasie en milde betrokkenheid van de wervels), verhoogde gehaltes van 2-hydroxyglutaarzuur in de urine, en een milde ontwikkelingsachterstand."},"pt":{"name":"Condromatose metafisária com acidúria D-2-hidroxiglutárica","synonyms":["MC-HGA"]},"pl":{"name":"Chondromatoza przynasadowa z acydurią D-2-hydroksyglutarową","synonyms":["Chrzęstniakowatość przynasadowa z kwasicą D-2-hydroksyglutarową"]},"cs":{"name":"Metafyzární chondromatóza s D-2-hydroxyglutarovou acidurií","synonyms":["MC-HGA"]},"uk":{"name":"Метафізарний хондроматоз з D-2-гідроксиглутаровою ацидурією","synonyms":["MC-HGA"],"definition":"Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria is an extremely rare genetic disorder characterized by the unique association of enchondromatosis with D-2 hydroxyglutaric aciduria (see these terms). Clinical features include enchondromatosis (with short stature, severe metaphyseal dysplasia and mild vertebral involvement), elevated levels of urinary 2-hydroxyglutaric acid and mild developmental delay."},"zh":{"name":"干骺端软骨瘤病伴D-2-羟基戊二酸尿症","definition":"干骺端软骨瘤病合并D-2-羟基戊二酸尿症是一种极其罕见的遗传性疾病，其特征是内生性软骨瘤病与D-2-羟基戊二酸尿症有独特的联系(见该类词条)。临床特征包括内生性软骨瘤病(身材矮小，严重干骺端发育不良，轻度脊椎受累)，尿2-羟基戊二酸水平升高，轻度发育迟缓。"},"tr":{"name":"D-2-hidroksiglutarik asidüri ile seyreden metafizer kondromatozis"}},"xrefs":[{"source":"OMIM","code":"614875","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q78.8","qualifier":"NTBT","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"LD24.2Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1777127218"},{"source":"MONDO","code":"0013941","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3553958","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":99647,"name":"Cheirospondyloenchondromatosis","status":"inactive"}],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":93450,"name":"Primary bone dysplasia with disorganized development of skeletal components","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"IDH1","name":"isocitrate dehydrogenase (NADP(+)) 1","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"22025298[PMID]","hgnc":"5382","ensembl":"ENSG00000138413","omim":"147700","loci":["2q34"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Childhood","Infancy","Neonatal"],"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":"2021-10-27","source":"32166993[PMID]_22025298[PMID]_29744569[PMID]_22639207[PMID]","terms":[{"hpo":"HP:0012321","label":"D-2-hydroxyglutaric aciduria","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0011849","label":"Abnormal bone ossification","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005868","label":"Metaphyseal enchondromatosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003025","label":"Metaphyseal irregularity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003016","label":"Metaphyseal widening","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005701","label":"Multiple enchondromatosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001367","label":"Abnormal joint morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003301","label":"Irregular vertebral endplates","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030295","label":"Metaphyseal chondromatosis of femur","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030296","label":"Metaphyseal chondromatosis of radius","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030294","label":"Metaphyseal chondromatosis of tibia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030297","label":"Metaphyseal chondromatosis of ulna","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003021","label":"Metaphyseal cupping","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000926","label":"Platyspondyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009803","label":"Short phalanx of finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002453","label":"Abnormal globus pallidus morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007361","label":"Abnormality of the pons","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007375","label":"Abnormality of the septum pellucidum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004820","label":"Acute myelomonocytic leukemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004242","label":"Broad carpal bones","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000337","label":"Broad forehead","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001048","label":"Cavernous hemangioma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007486","label":"Cavernous hemangioma of the face","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007033","label":"Cerebellar dysplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012762","label":"Cerebral white matter atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012448","label":"Delayed myelination","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000519","label":"Developmental cataract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000958","label":"Dry skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003029","label":"Enlargement of the ankles","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001290","label":"Generalized hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002970","label":"Genu varum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000666","label":"Horizontal nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025473","label":"Hyperpigmented papule","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010576","label":"Intracranial cystic lesion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003796","label":"Irregular iliac crest","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030866","label":"Large knee","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001601","label":"Laryngomalacia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004626","label":"Lumbar scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100764","label":"Lymphangioma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000400","label":"Macrotia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100255","label":"Metaphyseal dysplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002828","label":"Multiple joint contractures","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011470","label":"Nasogastric tube feeding in infancy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002033","label":"Poor suck","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006532","label":"Recurrent pneumonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002098","label":"Respiratory distress","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000278","label":"Retrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001684","label":"Secundum atrial septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100806","label":"Sepsis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000914","label":"Shield chest","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200035","label":"Skin plaque","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011681","label":"Subarterial ventricular septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000506","label":"Telecanthus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000233","label":"Thin vermilion border","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000122","label":"Unilateral renal agenesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004948","label":"Vascular tortuosity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002515","label":"Waddling gait","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006610","label":"Wide intermamillary distance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012766","label":"Widened cerebral subarachnoid space","frequency":"Occasional (29-5%)","criteria":null}]}}