{"Name":"Hereditary arterial and articular multiple calcification syndrome","DiseaseID__c":"GARD:0010762","id":10762,"encodedName":"hereditary-arterial-and-articular-multiple-calcification-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Hereditary arterial and articular multiple calcification syndrome","Xref_IDs__c":"718602007; C1859372; C201591; C565891; DOID:0111582; MEDGEN:347132; MONDO:0008895; OMIM:211800; ORPHA:289601","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":2,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0008895","Disease_Description__c":"Hereditary arterial and articular multiple calcification syndrome is a very rare genetic vascular disease of autosomal recessive inheritance, described in less than 20 patients to date, characterized by adult-onset (as early as the second decade of life) isolated calcification of the arteries of the lower extremities (including the iliac, femoral, and tibial arteries) as well as the capsule joints of the fingers, wrists, ankles and feet, and that usually manifests with mild paresthesias of the lower extremities, intense joint pain and swelling, and early onset arthritis of affected joints.","GARD_Name__c":"Hereditary arterial and articular multiple calcification syndrome","GARD_Synonym__c":"arterial calcification due to deficiency of cd73; calcification of joints and arteries; calja","Curated_Disease_Description_Source__c":"GARD:0010762","Curated_Disease_Description__c":"Hereditary arterial and articular multiple calcification syndrome (also known as arterial calcification due to deficiency of CD73, or ACDC), is a rare, adult-onset vascular disorder. People with ACDC have calcium build-up in the large vessels (mainly below the waist) and in the joints of the hands and feet. Signs and symptoms may include progressive pain and cramping in the calves, thighs, buttocks, feet, and/or hands. ACDC is caused by genetic changes in the NT5E gene and is inherited in an autosomal recessive manner.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:289601","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008895","ORPHANET_ID__c":"ORPHA:289601","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de calcificación arterial y articular múltiple hereditaria","Spanish_Description_Source__c":"ORPHA:289601","Spanish_Description__c":"Es una enfermedad vascular genética muy poco frecuente de herencia autosómica recesiva descrita en menos de 20 pacientes hasta la fecha. Se caracteriza por un inicio en la edad adulta (a partir de la segunda década de vida) de calcificación aislada de las arterias de las extremidades inferiores (incluyendo las arterias iliaca, femoral y tibial), así como de las cápsulas articulares de dedos, muñecas, tobillos y pies y que, por lo habitual, se manifiesta con leves parestesias de las extremidades inferiores, dolor intenso en las articulaciones e inflamación, y aparición temprana de artritis en las articulaciones afectadas.","Spanish_Disease_Name__c":"síndrome de calcificación arterial y articular múltiple hereditaria","Spanish_GARD_Synonym__c":"calja","Category_Linearization__c":"ORPHA:98028","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Hereditary arterial and articular multiple calcification syndrome (also known as arterial calcification due to deficiency of CD73, or ACDC), is a rare, adult-onset vascular disorder. People with ACDC have calcium build-up in the large vessels (mainly below the waist) and in the joints of the hands and feet. Signs and symptoms may include progressive pain and cramping in the calves, thighs, buttocks, feet, and/or hands. ACDC is caused by genetic changes in the NT5E gene and is inherited in an autosomal recessive manner.","Curated_Disease_Description_Source__c":"GARD:0010762","GARD_Synonym__c":"arterial calcification due to deficiency of cd73; calcification of joints and arteries; calja","Name":"Hereditary arterial and articular multiple calcification syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Society for Vascular Surgery","Website__c":"http://www.vascularweb.org/index.html"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Vascular Medicine","Tag_Category__c":"Specialist","curated_tag_name":"Vascular diseases"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:289601"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1859372"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0010762","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C565891","Source__c":"MONDO:0008895","Xref__c":"C565891"},{"URL__c":"https://www.omim.org/entry/211800","Source__c":"C1859372; MONDO:0008895; ORPHA:289601","Xref__c":"OMIM:211800"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=718602007","Source__c":"C1859372; MONDO:0008895","Xref__c":"718602007"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111582","Source__c":"MONDO:0008895","Xref__c":"DOID:0111582"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1859372","Source__c":"C1859372","Xref__c":"C1859372"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=347132","Source__c":"C1859372","Xref__c":"MEDGEN:347132"},{"URL__c":"https://www.orpha.net/en/disease/detail/289601","Source__c":"C1859372; MONDO:0008895; ORPHA:289601","Xref__c":"ORPHA:289601"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008895","Source__c":"GARD:0010762","Xref__c":"MONDO:0008895"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C201591","Source__c":"C1859372","Xref__c":"C201591"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"NT5E","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:289601","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025015","HPO_Name__c":"Abnormal vascular morphology","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:289601","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormal tortuous (i.e., twisted) form of arteries.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005116","HPO_Name__c":"Arterial tortuosity","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:289601","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormally reduced amount of creatinine in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012101","HPO_Synonym__c":"Decreased serum creatinine; Low blood creatinine level; Reduced creatinine levels","HPO_Name__c":"Decreased serum creatinine","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:289601","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal functionality of the cardiovascular system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011025","HPO_Synonym__c":"Abnormality of cardiovascular system physiology","HPO_Name__c":"Abnormal cardiovascular system physiology","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:289601","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in a coronary artery.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001717","HPO_Name__c":"Coronary artery calcification","Feature_System__c":"Musculoskeletal System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:289601","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Pathological deposition of calcium salts in one or more arteries.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003207","HPO_Name__c":"Arterial calcification","Feature_System__c":"Musculoskeletal System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:289601","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Blockage of blood flow through an artery.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025324","HPO_Name__c":"Arterial occlusion","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Vascular Medicine"]},"synonyms":["arterial calcification due to deficiency of cd73"," calcification of joints and arteries"," calja"]}