{"Name":"Dimethylglycine dehydrogenase deficiency","DiseaseID__c":"GARD:0017185","id":17185,"encodedName":"dimethylglycine-dehydrogenase-deficiency","IsDeleted":false,"Disease_Name_Full__c":"Dimethylglycine dehydrogenase deficiency","Xref_IDs__c":"719449007; C1853892; C565278; DOID:0081446; MEDGEN:343006; MONDO:0011610; OMIM:605850; ORPHA:243343","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":4,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0011610","Disease_Description__c":"Dimethylglycine dehydrogenase deficiency is an extremely rare autosomal recessive glycine metabolism disorder characterized clinically in the single reported case to date by muscle fatigue and a fish-like odor.","GARD_Name__c":"Dimethylglycine dehydrogenase deficiency","GARD_Synonym__c":"deficiency of dimethylglycine dehydrogenase; dimethylglycine dehydrogenase activity disease; disorder of dimethylglycine dehydrogenase activity; dmg dehydrogenase deficiency; dmgdh deficiency; dmgdhd","Curated_Disease_Description_Source__c":"ORPHA:243343","Curated_Disease_Description__c":"Dimethylglycine dehydrogenase deficiency is an extremely rare autosomal recessive glycine metabolism disorder characterized clinically by muscle fatigue and a fish-like odor.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:243343","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0011610","ORPHANET_ID__c":"ORPHA:243343","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Deficiencia de dimetilglicina deshidrogenasa","Spanish_Description_Source__c":"ORPHA:243343","Spanish_Description__c":"El déficit de dimetilglicina deshidrogenasa es un trastorno autosómico recesivo del metabolismo de la glicina extremadamente poco frecuente que se caracteriza clínicamente en el único caso registrado hasta la fecha por fatiga muscular y olor similar al del pescado.","Spanish_Disease_Name__c":"deficiencia de dimetilglicina deshidrogenasa","Spanish_GARD_Synonym__c":"deficiencia de dmg deshidrogenasa","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":"Dimethylglycine dehydrogenase deficiency is an extremely rare autosomal recessive glycine metabolism disorder characterized clinically by muscle fatigue and a fish-like odor.","Curated_Disease_Description_Source__c":"ORPHA:243343","GARD_Synonym__c":"deficiency of dimethylglycine dehydrogenase; dimethylglycine dehydrogenase activity disease; disorder of dimethylglycine dehydrogenase activity; dmg dehydrogenase deficiency; dmgdh deficiency; dmgdhd","Name":"Dimethylglycine dehydrogenase deficiency","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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":"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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:243343"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=719449007","Source__c":"C1853892; MONDO:0011610","Xref__c":"719449007"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=343006","Source__c":"C1853892","Xref__c":"MEDGEN:343006"},{"URL__c":"https://www.omim.org/entry/605850","Source__c":"C1853892; MONDO:0011610; ORPHA:243343","Xref__c":"OMIM:605850"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0081446","Source__c":"MONDO:0011610","Xref__c":"DOID:0081446"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1853892","Source__c":"C1853892","Xref__c":"C1853892"},{"URL__c":"https://www.orpha.net/en/disease/detail/243343","Source__c":"C1853892; MONDO:0011610; ORPHA:243343","Xref__c":"ORPHA:243343"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C565278","Source__c":"MONDO:0011610","Xref__c":"C565278"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011610","Source__c":"GARD:0017185","Xref__c":"MONDO:0011610"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"DMGDH","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:243343","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Body odor characterized by an offensive body odor and the smell of rotting fish due to the excessive excretion of trimethylamine (TMA) in the urine, sweat, and breath of affected individuals.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0410020","HPO_Synonym__c":"Fish odor; Fishy body odor; Fishy odor","HPO_Name__c":"Fish odor","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:243343","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Concentration or activity of an enzyme is above or below the limits of normal in the blood circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012379","HPO_Name__c":"Abnormal circulating enzyme concentration or activity","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:243343","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal, increased fatiguability of the musculature.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003750","HPO_Name__c":"Increased muscle fatiguability","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:243343","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001939","HPO_Synonym__c":"Laboratory abnormality; Metabolism abnormality","HPO_Name__c":"Abnormality of metabolism/homeostasis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:243343","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase (CK; EC 2.7.3.2) in the blood. CK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003236","HPO_Synonym__c":"Elevated blood creatine phosphokinase; Elevated circulating creatine phosphokinase; Elevated creatine kinase; Elevated serum CPK; Elevated serum creatine kinase; Elevated serum creatine phosphokinase; High serum creatine kinase; Increased CPK; Increased creatine kinase; Increased creatine phosphokinase; Increased serum CK; Increased serum creatine kinase; Increased serum creatine phosphokinase","HPO_Name__c":"Elevated circulating creatine kinase concentration","HPO_Feature_Type__c":"Lab"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Inborn Errors of Metabolism"],"Specialist":["Genetics","Pediatrics"]},"synonyms":["deficiency of dimethylglycine dehydrogenase"," dimethylglycine dehydrogenase activity disease"," disorder of dimethylglycine dehydrogenase activity"," dmg dehydrogenase deficiency"," dmgdh deficiency"," dmgdhd"]}