{"Name":"Congenital disorder of glycosylation","DiseaseID__c":"GARD:0010307","id":10307,"encodedName":"congenital-disorder-of-glycosylation","IsDeleted":false,"Disease_Name_Full__c":"Congenital disorder of glycosylation","Xref_IDs__c":"238049009; C0282577; C84615; D018981; DOID:5212; MEDGEN:76469; MONDO:0015286; ORPHA:137","USA_Estimate__c":"50,000","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":"80,000 to 800,000","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":2,"Description_Source__c":"MONDO:0015286","Disease_Description__c":"A fast growing group of inborn errors of metabolism characterized by defective activity of enzymes that participate in glycosylation (modification of proteins and other macromolecules by adding and processing of oligosaccharide side chains). This group is comprised of phenotypically diverse disorders affecting multiple systems including the central nervous system, muscle function, immunity, endocrine system, and coagulation. The numerous entities in this group are subdivided, based on the synthetic pathway affected, into disorder of protein N-glycosylation, disorder of protein O-glycosylation, disorder of multiple glycosylation, and disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation.","GARD_Name__c":"Congenital disorder of glycosylation","GARD_Synonym__c":"carbohydrate deficiency glycoprotein syndrome; carbohydrate deficient glycoprotein syndrome; carbohydrate-deficient glycoprotein syndrome; cdg; cdg - carbohydrate-deficient glycoprotein syndrome; congenital disorders of glycosylation","Curated_Disease_Description_Source__c":"GARD:0010307","Curated_Disease_Description__c":"Congenital disorders of glycosylation (CDG) are a group of inherited metabolic disorders that affect a process called glycosylation. Glycosylation is the complex process by which all human cells build long sugar chains that are attached to proteins, which are called glycoproteins. There are many steps involved in this process, and each step is triggered by a type of protein called an enzyme. Individuals with a CDG are missing one of the enzymes that is required for glycosylation. The type of CDG that a person has depends on which enzyme is missing. Currently, there are 19 identified types of CDG. CDG type IA is the most common form. The symptoms of CDG vary widely among affected individuals. Some people have severe developmental delay, failure to thrive, and multiple organ problems, while others have diarrhea, low blood sugar (hypoglycemia), liver problems, and normal developmental potential.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:137","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0015286","ORPHANET_ID__c":"ORPHA:137","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Trastorno congénito de la glicosilación","Spanish_Description_Source__c":"ORPHA:137","Spanish_Description__c":"Es un grupo de errores innatos del metabolismo con un número creciente de entidades diferentes, caracterizadas por una actividad defectuosa de las enzimas que participan en los procesos de glicosilación (modificación de proteínas y otras macromoléculas mediante la adición y el procesamiento de cadenas laterales de oligosacáridos). El grupo se compone de trastornos con diferentes fenotipos que afectan a múltiples sistemas, tales como el sistema nervioso central, la función muscular, el sistema inmunitario, el sistema endocrino y la coagulación. Las numerosas entidades pertenecientes a este grupo se subdividen, en función de la vía sintética afectada, en trastornos de la N-glicosilación de proteínas, trastornos de la O-glicosilación de proteínas, trastornos de la glicosilación múltiple, y trastornos de la glicosilación de glicoesfingolípidos y del anclaje a glicosilfosfatidilinositol.","Spanish_Disease_Name__c":"trastorno congénito de la glicosilación","Spanish_GARD_Synonym__c":"cdg; síndrome de glicoproteínas deficientes en carbohidratos","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":"Congenital disorders of glycosylation (CDG) are a group of inherited metabolic disorders that affect a process called glycosylation. Glycosylation is the complex process by which all human cells build long sugar chains that are attached to proteins, which are called glycoproteins. There are many steps involved in this process, and each step is triggered by a type of protein called an enzyme. Individuals with a CDG are missing one of the enzymes that is required for glycosylation. The type of CDG that a person has depends on which enzyme is missing. Currently, there are 19 identified types of CDG. CDG type IA is the most common form. The symptoms of CDG vary widely among affected individuals. Some people have severe developmental delay, failure to thrive, and multiple organ problems, while others have diarrhea, low blood sugar (hypoglycemia), liver problems, and normal developmental potential.","Curated_Disease_Description_Source__c":"GARD:0010307","GARD_Synonym__c":"carbohydrate deficiency glycoprotein syndrome; carbohydrate deficient glycoprotein syndrome; carbohydrate-deficient glycoprotein syndrome; cdg; cdg - carbohydrate-deficient glycoprotein syndrome; congenital disorders of glycosylation","Name":"Congenital disorder of glycosylation","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Metabolic Support UK","Website__c":"https://www.metabolicsupportuk.org"},{"Account_Name__c":"Amour Fund","Website__c":"https://amourfund.org/"},{"Account_Name__c":"CDG & Allies - PPAIN","Website__c":"https://worldcdg.org/hashtags/cdg-allies-ppain"},{"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":"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":"Neonatal","Provided_By__c":"ORPHA:137"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:137"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0282577"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C018981","Source__c":"C0282577; MONDO:0015286","Xref__c":"D018981"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=76469","Source__c":"C0282577","Xref__c":"MEDGEN:76469"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C84615","Source__c":"C0282577; MONDO:0015286","Xref__c":"C84615"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A5212","Source__c":"MONDO:0015286","Xref__c":"DOID:5212"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0282577","Source__c":"C0282577","Xref__c":"C0282577"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=238049009","Source__c":"C0282577; MONDO:0015286","Xref__c":"238049009"},{"URL__c":"https://www.orpha.net/en/disease/detail/137","Source__c":"C0282577; MONDO:0015286; ORPHA:137","Xref__c":"ORPHA:137"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0015286","Source__c":"GARD:0010307","Xref__c":"MONDO:0015286"}],"Inheritance__c":["X-linked recessive","Autosomal recessive"],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Inborn Errors of Metabolism"],"Specialist":["Genetics","Pediatrics"]},"synonyms":["carbohydrate deficiency glycoprotein syndrome"," carbohydrate deficient glycoprotein syndrome"," carbohydrate-deficient glycoprotein syndrome"," cdg"," cdg - carbohydrate-deficient glycoprotein syndrome"," congenital disorders of glycosylation"]}