{"Name":"TMEM199-CDG","DiseaseID__c":"GARD:0017825","id":17825,"encodedName":"tmem199-cdg","IsDeleted":false,"Disease_Name_Full__c":"TMEM199-CDG","Xref_IDs__c":"C4225190; DOID:0070268; MEDGEN:895025; MONDO:0014790; OMIM:616829; ORPHA:466703","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":3,"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":7,"No_of_Age_at_Onset__c":3,"Description_Source__c":"ORPHA:466703","Disease_Description__c":"A rare congenital disorder of glycosylation characterized by chronic, non-progressive liver disease, manifesting as mild steatosis with elevated serum transaminases and alkaline phosphatase, hypercholesterolemia, and decreased coagulation factors and ceruloplasmin. Transferrin glycosylation pattern is consistent with a type 2 congenital disorder of glycosylation. Liver biopsy may show mild non-progressive fibrosis. Patients usually remain asymptomatic, although delayed psychomotor development and hypotonia have been reported in single cases.","GARD_Name__c":"TMEM199-CDG","GARD_Synonym__c":"carbohydrate deficient glycoprotein syndrome type iip; cdg (congenital disorder of glycosylation) syndrome type iip; cdg iip; cdg syndrome type iip; cdg-iip; cdg2p; congenital disorder of glycosylation type 2p; congenital disorder of glycosylation type iip; congenital disorder of glycosylation, type iip; tmem199 congenital disorder of glycosylation; tmem199-cdg - transmembrane protein 199 congenital disorder of glycosylation; transmembrane protein 199 congenital disorder of glycosylation","Curated_Disease_Description_Source__c":"ORPHA:466703","Curated_Disease_Description__c":"A rare congenital disorder of glycosylation characterized by chronic, non-progressive liver disease, manifesting as mild steatosis with elevated serum transaminases and alkaline phosphatase, hypercholesterolemia, and decreased coagulation factors and ceruloplasmin. Transferrin glycosylation pattern is consistent with a type 2 congenital disorder of glycosylation. Liver biopsy may show mild non-progressive fibrosis. Patients usually remain asymptomatic, although delayed psychomotor development and hypotonia have been reported.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"at a variety of ages","SourceID__c":"ORPHA:466703","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0014790","ORPHANET_ID__c":"ORPHA:466703","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Tmem199-cdg","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"tmem199-cdg","Spanish_GARD_Synonym__c":"cdg-iip; cdg2p; síndrome cdg tipo iip; síndrome de glicoproteínas deficientes en carbohidratos tipo iip; trastorno congénito de la glicosilación tipo 2p; trastorno congénito de la glicosilación tipo iip","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":"A rare congenital disorder of glycosylation characterized by chronic, non-progressive liver disease, manifesting as mild steatosis with elevated serum transaminases and alkaline phosphatase, hypercholesterolemia, and decreased coagulation factors and ceruloplasmin. Transferrin glycosylation pattern is consistent with a type 2 congenital disorder of glycosylation. Liver biopsy may show mild non-progressive fibrosis. Patients usually remain asymptomatic, although delayed psychomotor development and hypotonia have been reported.","Curated_Disease_Description_Source__c":"ORPHA:466703","GARD_Synonym__c":"carbohydrate deficient glycoprotein syndrome type iip; cdg (congenital disorder of glycosylation) syndrome type iip; cdg iip; cdg syndrome type iip; cdg-iip; cdg2p; congenital disorder of glycosylation type 2p; congenital disorder of glycosylation type iip; congenital disorder of glycosylation, type iip; tmem199 congenital disorder of glycosylation; tmem199-cdg - transmembrane protein 199 congenital disorder of glycosylation; transmembrane protein 199 congenital disorder of glycosylation","Name":"TMEM199-CDG","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"CDG CARE","Website__c":"https://cdgcare.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":"Endocrine","Tag_Category__c":"Disease Category;Specialist","category_description":"Endocrine diseases affect hormone production or how the body responds to a specific hormone(s).","curated_tag_name":"Endocrine 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:466703"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:466703"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:466703"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/466703","Source__c":"C4225190; MONDO:0014790; ORPHA:466703","Xref__c":"ORPHA:466703"},{"URL__c":"https://www.omim.org/entry/616829","Source__c":"C4225190; MONDO:0014790; ORPHA:466703","Xref__c":"OMIM:616829"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0070268","Source__c":"MONDO:0014790","Xref__c":"DOID:0070268"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4225190","Source__c":"C4225190","Xref__c":"C4225190"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=895025","Source__c":"C4225190","Xref__c":"MEDGEN:895025"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1208738002","Source__c":"C4225190","Xref__c":"1208738002"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0014790","Source__c":"GARD:0017825","Xref__c":"MONDO:0014790"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"VMA12","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:616829","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An anomaly of protein O-linked glycosylation, i.e., of the process in which a carbohydrate or carbohydrate derivative unit is added to a protein via the hydroxyl group of a serine or threonine residue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012358","HPO_Name__c":"Abnormal protein O-linked glycosylation","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:616829","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormally increased size of the liver.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002240","HPO_Synonym__c":"Enlarged liver","HPO_Name__c":"Hepatomegaly","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616829","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The concentration of aspartate aminotransferase (AST) in the blood circulation is above the upper limit of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031956","HPO_Synonym__c":"Aspartate aminotransferase increased; Elevated serum aspartate aminotransferase; Elevated serum AST; Elevated serum glutamic oxaloacetic transaminase","HPO_Name__c":"Elevated circulating aspartate aminotransferase concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:616829","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An anomaly of protein N-linked glycosylation, i.e., an abnormality of the protein glycosylation process in which a carbohydrate or carbohydrate derivative unit is added to a protein via a nitrogen atom in an amino acid residue in a protein.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012347","HPO_Name__c":"Abnormal protein N-linked glycosylation","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:616829","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormally high concentration in the circulation of alanine aminotransferase (ALT).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031964","HPO_Synonym__c":"Alanine aminotransferase increased; Elevated serum alanine aminotransferase; Elevated serum ALT; Elevated serum glutamic-pyruvic transaminase","HPO_Name__c":"Elevated circulating alanine aminotransferase concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:616829","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Steatosis is a term used to denote lipid accumulation within hepatocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001397","HPO_Synonym__c":"Fatty infiltration of liver; Fatty liver; Liver steatosis; Steatosis","HPO_Name__c":"Hepatic steatosis","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:616829","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of excessive fibrous connective tissue in the liver. Fibrosis is a reparative or reactive process.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001395","HPO_Synonym__c":"Liver fibrosis","HPO_Name__c":"Hepatic fibrosis","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616829","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An anomalous build up of copper (Cu) in the liver.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025321","HPO_Synonym__c":"Liver copper accumulation","HPO_Name__c":"Copper accumulation in liver","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:616829","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A reduced concentration of copper in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011967","HPO_Synonym__c":"Copper deficiency; Hypocupremia; Reduced serum copper","HPO_Name__c":"Decreased circulating copper concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:616829","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001252","HPO_Synonym__c":"Low muscle tone; Low or weak muscle tone; Muscle hypotonia; Muscular hypotonia","HPO_Name__c":"Hypotonia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616829","HPO_Frequency__c":"Very frequent (80-99%)","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":"OMIM:616829","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"}},{"Provided_By__c":"OMIM:616829","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormally increased serum levels of alkaline phosphatase activity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003155","HPO_Synonym__c":"Elevated alkaline phosphatase; Elevated ALP; Greatly elevated alkaline phosphatase; High serum alkaline phosphatase; Hyperphosphatasemia; Hyperphosphatasia; Increased alkaline phosphatase; Increased serum alkaline phosphatase","HPO_Name__c":"Elevated circulating alkaline phosphatase concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:616829","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal transferrin isoform profile consistent with a type II congenital disorder of glycosylation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012301","HPO_Synonym__c":"Abnormal isoelectric focusing of serum transferrin, type II pattern; Isoelectric focusing of serum transferrin consistent with CDG type II; Type 2 transferrin isoform profile","HPO_Name__c":"Type II transferrin isoform profile","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:616829","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Decreased concentration of ceruloplasmin in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010837","HPO_Synonym__c":"Decreased serum ceruloplasmin; Decreased serum ceruloplasminA; Hypoceruloplasminemia","HPO_Name__c":"Decreased circulating ceruloplasmin concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:616829","Feature__r":{"HPO_Description__c":"Reduced ability of the liver to perform its functions.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001410","HPO_Synonym__c":"Decreased liver function; Liver dysfunction","HPO_Name__c":"Decreased liver function","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616829","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001263","HPO_Synonym__c":"Delayed cognitive development; Delayed development; Delayed developmental milestones; Delayed intellectual development; Delayed milestones; Delayed psychomotor development; Developmental delay; Developmental delay in early childhood; Developmental delay, global; Developmental retardation; GDD; Lack of psychomotor development; Motor and developmental delay; Motormental retardation; Psychomotor delay; Psychomotor development deficiency; Psychomotor development failure; Psychomotor developmental delay; Retarded development; Retarded mental development; Retarded psychomotor development","HPO_Name__c":"Global developmental delay","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616829","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An increased concentration of cholesterol in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003124","HPO_Synonym__c":"Elevated serum cholesterol; Elevated total cholesterol; Increased total cholesterol","HPO_Name__c":"Hypercholesterolemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:616829","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An elevated concentration of low-density lipoprotein cholesterol in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003141","HPO_Synonym__c":"Hyperbetalipoproteinemia; Increased beta-lipoproteins; Increased circulating LDL level; Increased circulating low-density lipoprotein cholesterol; Increased circulating low-density lipoprotein levels; Increased LDL cholesterol; Increased LDLc concentration; Increased plasma LDL levels","HPO_Name__c":"Increased LDL cholesterol concentration","HPO_Feature_Type__c":"Lab"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Endocrine","Inborn Errors of Metabolism"],"Specialist":["Genetics","Endocrine","Pediatrics"]},"synonyms":["carbohydrate deficient glycoprotein syndrome type iip"," cdg (congenital disorder of glycosylation) syndrome type iip"," cdg iip"," cdg syndrome type iip"," cdg-iip"," cdg2p"," congenital disorder of glycosylation type 2p"," congenital disorder of glycosylation type iip"," congenital disorder of glycosylation, type iip"," tmem199 congenital disorder of glycosylation"," tmem199-cdg - transmembrane protein 199 congenital disorder of glycosylation"," transmembrane protein 199 congenital disorder of glycosylation"]}