{"Name":"DPM3-congenital disorder of glycosylation","DiseaseID__c":"GARD:0012395","id":12395,"encodedName":"dpm3-congenital-disorder-of-glycosylation","IsDeleted":false,"Disease_Name_Full__c":"DPM3-congenital disorder of glycosylation","Xref_IDs__c":"725044000; C2752007; C567857; MEDGEN:414534; MONDO:0013049; OMIM:612937; ORPHA:263494","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":6,"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":2,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0013049","Disease_Description__c":"DPM3-CDG is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case by muscle weakness, waddling gait and dilated cardiomyopathy (see this term).","GARD_Name__c":"DPM3-congenital disorder of glycosylation","GARD_Synonym__c":"carbohydrate deficient glycoprotein syndrome type 1o; carbohydrate deficient glycoprotein syndrome type io; cdg io; cdg syndrome type io; cdg-io; cdg1(dpm3); cdg1o; congenital disorder of glycosylation type 1o; congenital disorder of glycosylation type io; dpm3-cdg; dpm3-cdg - dolichyl-phosphate mannosyltransferase 3 congenital disorder of glycosylation; mddgc15; muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 15","Curated_Disease_Description_Source__c":"MONDO:0013049","Curated_Disease_Description__c":"DPM3-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case by muscle weakness, waddling gait and dilated cardiomyopathy.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:263494","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0013049","ORPHANET_ID__c":"ORPHA:263494","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Dpm3-cdg","Spanish_Description_Source__c":"ORPHA:263494","Spanish_Description__c":"El trastorno congénito de la glicosilación tipo 1o (CDG-Io) es una forma extremadamente poco frecuente del síndrome CDG (consulte este término) que, en el único caso registrado, se caracteriza clínicamente por debilidad muscular, marcha de pato, y miocardiopatía dilatada.","Spanish_Disease_Name__c":"dpm3-cdg","Spanish_GARD_Synonym__c":"cdg-io; cdg1o; síndrome cdg tipo io; síndrome de glicoproteínas deficientes en carbohidratos tipo lo; trastorno congénito de la glicosilación tipo 1o; trastorno congénito de la glicosilación tipo io","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":"DPM3-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case by muscle weakness, waddling gait and dilated cardiomyopathy.","Curated_Disease_Description_Source__c":"MONDO:0013049","GARD_Synonym__c":"carbohydrate deficient glycoprotein syndrome type 1o; carbohydrate deficient glycoprotein syndrome type io; cdg io; cdg syndrome type io; cdg-io; cdg1(dpm3); cdg1o; congenital disorder of glycosylation type 1o; congenital disorder of glycosylation type io; dpm3-cdg; dpm3-cdg - dolichyl-phosphate mannosyltransferase 3 congenital disorder of glycosylation; mddgc15; muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 15","Name":"DPM3-congenital disorder of glycosylation","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"CDG CARE","Website__c":"https://cdgcare.org/"},{"Account_Name__c":"CDG Canada","Website__c":"https://canadacdg.com/"}],"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":"Cardiology","Tag_Category__c":"Specialist"},{"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":"Muscular Dystrophy","Tag_Category__c":"Account;Disease Category","category_description":"Muscular dystrophy refers to a group of inherited disorders that cause muscles to gradually weaken and break down.","curated_tag_name":"Muscular dystrophy"},{"Tag_Name__c":"Cardiomyopathy","Tag_Category__c":"Account","curated_tag_name":"Cardiomyopathy"},{"Tag_Name__c":"Neurodevelopmental disabilities","Tag_Category__c":"Specialist","curated_tag_name":"Neurodevelopmental disabilities"},{"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":"Childhood","Provided_By__c":"ORPHA:263494"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C2752007"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0012395","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1332","Source__c":"Gene Review","Xref__c":"NBK1332"},{"URL__c":"https://www.orpha.net/en/disease/detail/263494","Source__c":"C2752007; MONDO:0013049; ORPHA:263494","Xref__c":"ORPHA:263494"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=414534","Source__c":"C2752007","Xref__c":"MEDGEN:414534"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=725044000","Source__c":"C2752007; MONDO:0013049","Xref__c":"725044000"},{"URL__c":"https://www.omim.org/entry/612937","Source__c":"C2752007; MONDO:0013049; ORPHA:263494","Xref__c":"OMIM:612937"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C567857","Source__c":"MONDO:0013049","Xref__c":"C567857"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2752007","Source__c":"C2752007","Xref__c":"C2752007"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0013049","Source__c":"GARD:0012395","Xref__c":"MONDO:0013049"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"DPM3","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:263494","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The term dystrophy means abnormal growth. However, muscular dystrophy is used to describe primary myopathies with a genetic basis and a progressive course characterized by progressive skeletal muscle weakness and wasting, defects in muscle proteins, and histological features of muscle fiber degeneration (necrosis) and regeneration. If possible, it is preferred to use other HPO terms to describe the precise phenotypic abnormalities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003560","HPO_Name__c":"Muscular dystrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:263494","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"No consensus exists on what a stroke-like episode is, but these episodes can be functionally defined as a new neurological deficit, occurring with or without the context of seizures, which last longer than 24 hours.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002401","HPO_Synonym__c":"Stroke-like episodes; Strokelike episodes","HPO_Name__c":"Stroke-like episode","Feature_System__c":"Nervous System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:263494","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Profound intellectual disability (ID) is defined as a type of ID characterized by profoundly sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) below 20.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002187","HPO_Synonym__c":"Intellectual disability, profound; IQ less than 20; Mental retardation, profound; Profound mental retardation","HPO_Name__c":"Profound intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:263494","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003487","HPO_Synonym__c":"Extensor plantar reflexes; Extensor plantar response; Extensor plantar responses; Positive Babinski sign","HPO_Name__c":"Babinski sign","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:263494","HPO_Frequency__c":"Frequent (30-79%)","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:263494","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Dilated cardiomyopathy (DCM) is defined by the presence of left ventricular dilatation and left ventricular systolic dysfunction in the absence of abnormal loading conditions (hypertension, valve disease) or coronary artery disease sufficient to cause global systolic impairment. Right ventricular dilation and dysfunction may be present but are not necessary for the diagnosis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001644","HPO_Synonym__c":"Cardiomyopathy, dilated; Congestive cardiomyopathy; DCM; Stretched and thinned heart muscle","HPO_Name__c":"Dilated cardiomyopathy","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:263494","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Weakness of the muscles of the pelvic girdle (also known as the hip girdle), that is, lack of strength of the muscles around the pelvis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003749","HPO_Synonym__c":"Hip girdle muscle weakness; Hip girdle weakness; Hip-girdle muscle weakness; Pelvic girdle weakness","HPO_Name__c":"Pelvic girdle muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:263494","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduced strength of muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001324","HPO_Synonym__c":"Muscle weakness; Muscular weakness","HPO_Name__c":"Muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:263494","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A foot where the longitudinal arch of the foot is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001763","HPO_Synonym__c":"Flat feet; Flat foot","HPO_Name__c":"Pes planus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:263494","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the chest.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100749","HPO_Synonym__c":"Chest pain; Thoracic pain","HPO_Name__c":"Chest pain","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:263494","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Diminution of tendon reflexes, which is an invariable sign of peripheral nerve disease.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001315","HPO_Synonym__c":"Absent or decreased deep tendon reflexes; Decreased deep tendon reflexes; Decreased tendon reflexes; Decreased to absent deep tendon reflexes; Decreased/absent deep tendon reflexes; Depressed tendon reflexes; Diminished deep tendon reflexes; Diminished or absent deep tendon reflexes; Diminished or absent tendon reflexes; Hypoactive to absent deep tendon reflexes; Impaired tendon reflexes; Reduced/absent deep tendon reflexes; Weak or absent deep tendon reflexes","HPO_Name__c":"Reduced tendon reflexes","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:263494","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002910","HPO_Synonym__c":"Abnormal liver enzymes; Abnormal liver function; Abnormal liver function tests; Elevated circulating hepatic transaminase activity; Elevated liver enzymes; Elevated serum transaminases; Elevated transaminases; High liver enzymes; Increased liver enzymes; Increased liver function tests; Increased transaminases; Raised liver enzymes; Subclinical abnormal liver function tests","HPO_Name__c":"Elevated circulating hepatic transaminase concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:263494","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Muscle hypertrophy affecting the calf muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008981","HPO_Synonym__c":"Calf hypertrophy; Increased size of calf muscles; Muscular hypertrophy of the calf muscles","HPO_Name__c":"Calf muscle hypertrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:263494","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An reduced addition of sialic acids to O-linked glycans.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012363","HPO_Name__c":"Decreased sialylation of O-linked protein glycosylation","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:263494","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Presence of abnormal vacuoles (membrane-bound organelles) in the sarcolemma. On histological staining with hematoxylin and eosin, rimmed vacuoles are popcorn-like clear vacuoles with a densely blue rim. The vacuoles are often associated with cytoplasmic and occasionally intranuclear eosinophilic inclusions.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003805","HPO_Synonym__c":"Rimmed vacuoles on biopsy","HPO_Name__c":"Rimmed vacuoles","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Neurology","Inborn Errors of Metabolism","Muscular Dystrophy"],"Specialist":["Genetics","Cardiology","Neurology","Neurodevelopmental disabilities","Neuromuscular medicine","Pediatrics"],"Account":["Muscular Dystrophy","Cardiomyopathy"]},"synonyms":["carbohydrate deficient glycoprotein syndrome type 1o"," carbohydrate deficient glycoprotein syndrome type io"," cdg io"," cdg syndrome type io"," cdg-io"," cdg1(dpm3)"," cdg1o"," congenital disorder of glycosylation type 1o"," congenital disorder of glycosylation type io"," dpm3-cdg"," dpm3-cdg - dolichyl-phosphate mannosyltransferase 3 congenital disorder of glycosylation"," mddgc15"," muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 15"]}