{"orpha":718037,"name":"Microcephalic primordial dwarfism syndrome with combined immunodeficiency due to PRIM1 deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["MPD with CID due to PRIM1 deficiency","Microcephalic primordial dwarfism syndrome with combined immunodeficiency due to primase polypeptide 1 deficiency"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-718037/","orphanet_url":"https://www.orpha.net/en/disease/detail/718037","names":{"fr":{"name":"Nanisme primordial syndromique avec immunodéficience combinée par déficit en PRIM1","synonyms":["Nanisme primordial syndromique avec CID par déficit en PRIM1","Nanisme primordial syndromique avec DIC par déficit en PRIM1","Nanisme primordial syndromique avec immunodéficience combinée par déficit en protéine primase polypeptide 1"]},"de":{"name":"Syndromaler mikrozephaler primordialer Kleinwuchs mit kombiniertem Immundefekt durch PRIM1-Mangel","synonyms":["MPD mit CID durch PRIM1-Defizienz","Primordialer Kleinwuchs-Immundefekt-Lipodystrophie-Syndrom","PDIL"]},"es":{"name":"Síndrome de talla baja primordial microcefálica con inmunodeficiencia combinada por deficiencia de PRIM1","synonyms":["Síndrome de enanismo primordial microcefálico con inmunodeficiencia combinada por deficiencia de PRIM1","Síndrome de enanismo primordial microcefálico con inmunodeficiencia combinada por deficiencia del polipéptido 1 de la primasa","MPD con CID por deficiencia de PRIM1","MPD con IDC por deficiencia de PRIM1"]},"it":{"name":"Sindrome nanismo microcefalico primitivo con immunodeficienza combinata da deficit di PRIM1","synonyms":["MPD con CID da deficit di PRIM1","Sindrome da nanismo microcefalico primitivo con immunodeficienza combinata da deficit della primasi polipeptide 1"]},"nl":{"name":"Syndroom van microcefale primordiale dwerggroei met gecombineerde immuundeficiëntie door PRIM1-deficiëntie","synonyms":["MPD met CID door PRIM1-deficiëntie","Syndroom van microcefale primordiale dwerggroei met gecombineerde immuundeficiëntie door deficiëntie van primase polypeptide 1"]},"pt":{"name":"Microcephalic primordial dwarfism syndrome with combined immunodeficiency due to PRIM1 deficiency"},"pl":{"name":"Microcephalic primordial dwarfism syndrome with combined immunodeficiency due to PRIM1 deficiency","synonyms":["MPD with CID due to PRIM1 deficiency","Microcephalic primordial dwarfism syndrome with combined immunodeficiency due to primase polypeptide 1 deficiency"]},"cs":{"name":"Microcephalic primordial dwarfism syndrome with combined immunodeficiency due to PRIM1 deficiency","synonyms":["MPD with CID due to PRIM1 deficiency","Microcephalic primordial dwarfism syndrome with combined immunodeficiency due to primase polypeptide 1 deficiency"]}},"xrefs":[{"source":"OMIM","code":"620005","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":324761,"name":"Microcephalic primordial dwarfism","classifications":[147,156,181]},{"orpha":331217,"name":"Syndrome with combined immunodeficiency","classifications":[156,195]}],"children":[],"genes":[{"symbol":"PRIM1","name":"DNA primase subunit 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"33060134[PMID]_38773012[PMID]","hgnc":"9369","ensembl":"ENSG00000198056","omim":"176635","loci":["12q13.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":[],"prevalence":[],"phenotypes":null}