{"Name":"Adenosine monophosphate deaminase deficiency","DiseaseID__c":"GARD:0000547","id":547,"encodedName":"adenosine-monophosphate-deaminase-deficiency","IsDeleted":false,"Disease_Name_Full__c":"Adenosine monophosphate deaminase deficiency","Xref_IDs__c":"9105005; C2931781; C538234; E79.2; MEDGEN:444140; MONDO:0013028; OMIM:612874; ORPHA:45","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0013028","Disease_Description__c":"A rare metabolic disorder for which two forms have been described. Lack of activity of the erythrocyte isoform of adenosine monophosphate (AMP) deaminase has been described in subjects with low plasma uric acid levels without obvious clinical relevance and will not be described further. Myoadenylate deaminase deficiency is an inherited disorder of muscular energy metabolism with a lack of AMP deaminase activity in skeletal muscle. It is characterised by exercise-induced muscle pain, cramps and/or early fatigue.","GARD_Name__c":"Adenosine monophosphate deaminase deficiency","GARD_Synonym__c":"amp deaminase deficiency; deficiency of adenosine monophosphate deaminase; deficiency of adenylic acid deaminase; deficiency of amp aminase; deficiency of amp deaminase; myoadenylate deaminase deficiency","Curated_Disease_Description_Source__c":"GARD:0000547","Curated_Disease_Description__c":"Adenosine monophosphate (AMP) deaminase deficiency is a condition that can affect the muscles used for movement (skeletal muscles). In many affected individuals, AMP deaminase deficiency does not cause any symptoms. People who do experience symptoms typically have fatigue, muscle pain (myalgia), or cramps after exercise or prolonged physical activity (exercise intolerance). Following strenuous activity, they often get tired more quickly and stay tired longer than would normally be expected. In rare cases, affected individuals have more severe symptoms including severe muscle weakness, low muscle tone (hypotonia), and muscle wasting (atrophy), but it is unclear whether these symptoms are due solely to AMP deaminase deficiency or additional health conditions. Exercise intolerance associated with AMP deaminase deficiency usually becomes apparent in childhood or early adulthood.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:45","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0013028","ORPHANET_ID__c":"ORPHA:45","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Deficiencia de adenosina monofosfato deaminasa","Spanish_Description_Source__c":"ORPHA:45","Spanish_Description__c":"Es un trastorno metabólico poco frecuente para el que se han descrito dos formas. La falta de actividad de la isoforma eritrocitaria de la adenosina monofosfato desaminasa (AMP) ha sido descrita en individuos con bajos niveles de ácido úrico en plasma sin relevancia clínica obvia y no se describirá más a fondo. La deficiencia de mioadenilato desaminasa es un trastorno hereditario del metabolismo energético muscular por falta de actividad de la AMP desaminasa en el músculo esquelético. Se caracteriza por dolor muscular, calambres y/o cansancio temprano desencadenados por el ejercicio.","Spanish_Disease_Name__c":"deficiencia de adenosina monofosfato deaminasa","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:68367","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":"Adenosine monophosphate (AMP) deaminase deficiency is a condition that can affect the muscles used for movement (skeletal muscles). In many affected individuals, AMP deaminase deficiency does not cause any symptoms. People who do experience symptoms typically have fatigue, muscle pain (myalgia), or cramps after exercise or prolonged physical activity (exercise intolerance). Following strenuous activity, they often get tired more quickly and stay tired longer than would normally be expected. In rare cases, affected individuals have more severe symptoms including severe muscle weakness, low muscle tone (hypotonia), and muscle wasting (atrophy), but it is unclear whether these symptoms are due solely to AMP deaminase deficiency or additional health conditions. Exercise intolerance associated with AMP deaminase deficiency usually becomes apparent in childhood or early adulthood.","Curated_Disease_Description_Source__c":"GARD:0000547","GARD_Synonym__c":"amp deaminase deficiency; deficiency of adenosine monophosphate deaminase; deficiency of adenylic acid deaminase; deficiency of amp aminase; deficiency of amp deaminase; myoadenylate deaminase deficiency","Name":"Adenosine monophosphate deaminase deficiency","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"United Mitochondrial Disease Foundation","Website__c":"https://www.umdf.org"},{"Account_Name__c":"Muscular Dystrophy Association","Website__c":"https://www.mda.org"}],"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":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological diseases"},{"Tag_Name__c":"Inborn Errors of Metabolism","Tag_Category__c":"Cause;Disease Category","category_description":"Inherited metabolic diseases, or inborn errors of metabolism, are a group of genetic diseases that affect the ability of the body's cells to convert food into energy.","curated_tag_name":"Inherited metabolic diseases"},{"Tag_Name__c":"Mitochondrial","Tag_Category__c":"Account;Cause;Disease Category","category_description":"Mitochondrial diseases are a group of genetic diseases that affect the ability of the body's cells to make energy.","curated_tag_name":"Mitochondrial diseases"},{"Tag_Name__c":"Neuromuscular medicine","Tag_Category__c":"Specialist","curated_tag_name":"Neuromuscular medicine"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"All ages","Provided_By__c":"ORPHA:45"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0000547","Source__c":"RareSource"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=9105005","Source__c":"MONDO:0013028","Xref__c":"9105005"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2931781","Source__c":"C2931781","Xref__c":"C2931781"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=444140","Source__c":"C2931781","Xref__c":"MEDGEN:444140"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C538234","Source__c":"MONDO:0013028","Xref__c":"C538234"},{"URL__c":"https://www.orpha.net/en/disease/detail/45","Source__c":"C2931781; MONDO:0013028; ORPHA:45","Xref__c":"ORPHA:45"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/E79.2","Source__c":"MONDO:0013028","Xref__c":"E79.2"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=124525004","Source__c":"C2931781","Xref__c":"124525004"},{"URL__c":"https://www.omim.org/entry/612874","Source__c":"ORPHA:45","Xref__c":"OMIM:612874"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0013028","Source__c":"GARD:0000547","Xref__c":"MONDO:0013028"},{"URL__c":"https://medlineplus.gov/genetics/condition/adenosine-monophosphate-deaminase-deficiency","Source__c":"GARD:0000547","Xref__c":"https://medlineplus.gov/genetics/condition/adenosine-monophosphate-deaminase-deficiency"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"AMPD3","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:45","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Reduced strength and weakness of the muscles of the arms and legs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003690","HPO_Synonym__c":"Limb muscle weakness; Limb weakness","HPO_Name__c":"Limb muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:45","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The occurrence of an unusually high amount of muscle pain following exercise.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003738","HPO_Synonym__c":"Exercise-induced muscle pain; Muscle pain on exercise; Muscle pain with exercise; Muscle pain, exercise-induced","HPO_Name__c":"Exercise-induced myalgia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:45","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormally increased tendency towards muscle fatigue induced by physical exercise.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009020","HPO_Name__c":"Exercise-induced muscle fatigue","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:45","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"Abnormally increased level of blood lactate (2-hydroxypropanoic acid). Lactate is produced from pyruvate by lactate dehydrogenase during normal metabolism. The terms lactate and lactic acid are often used interchangeably but lactate (the component measured in blood) is strictly a weak base whereas lactic acid is the corresponding acid. Lactic acidosis is often used clinically to describe elevated lactate but should be reserved for cases where there is a corresponding acidosis (pH below 7.35).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002151","HPO_Synonym__c":"Increased blood lactate; Increased serum lactate","HPO_Name__c":"Increased circulating lactate concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:45","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Pain in muscle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003326","HPO_Synonym__c":"Muscle ache; Muscle pain","HPO_Name__c":"Myalgia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:45","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008331","HPO_Synonym__c":"Elevated CK after exercise; Elevated CPK after exercise; Elevated creatine phosphokinase after exercise; Elevated phospho-CK after exercise; Elevated phospho-creatine kinase after exercise; Increased CK after exercise; Increased creatine kinase after exercise; Increased creatine phosphokinase after exercise; Increased phospho-CK after exercise; Increased phospho-creatine kinase after exercise","HPO_Name__c":"Elevated creatine kinase after exercise","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:45","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Sudden and involuntary contractions of one or more muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003394","HPO_Synonym__c":"Muscle cramps; Muscle spasms","HPO_Name__c":"Muscle spasm","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism","Mitochondrial"],"Disease Category":["Genetics","Neurology","Inborn Errors of Metabolism","Mitochondrial"],"Specialist":["Genetics","Neurology","Neuromuscular medicine","Pediatrics"],"Account":["Mitochondrial"]},"synonyms":["amp deaminase deficiency"," deficiency of adenosine monophosphate deaminase"," deficiency of adenylic acid deaminase"," deficiency of amp aminase"," deficiency of amp deaminase"," myoadenylate deaminase deficiency"]}