{"Name":"MPI-congenital disorder of glycosylation","DiseaseID__c":"GARD:0009830","id":9830,"encodedName":"mpi-congenital-disorder-of-glycosylation","IsDeleted":false,"Disease_Name_Full__c":"MPI-congenital disorder of glycosylation","Xref_IDs__c":"124668009; C1865145; C206519; C535740; DOID:0080554; MEDGEN:400692; MONDO:0011257; OMIM:602579; ORPHA:79319","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":4,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0011257","Disease_Description__c":"MPI-CDG is a form of congenital disorders of N-linked glycosylation, characterized by cyclic vomiting, profound hypoglycemia, failure to thrive, liver fibrosis, gastrointestinal complications (protein-losing enteropathy with hypoalbuminaemia, life-threatening intestinal bleeding of diffuse origin), and thrombotic events (protein C and S deficiency, low anti-thrombine III levels), whereas neurological development and cognitive capacity is usually normal. The clinical course is variable even within families. The disease is caused by loss of function of the gene <i>MPI</i> (15q24.1).","GARD_Name__c":"MPI-congenital disorder of glycosylation","GARD_Synonym__c":"carbohydrate deficient glycoprotein syndrome type ib; cdg ib; cdg syndrome type ib; cdg-ib; cdg1b; congenital disorder of glycosylation type 1b; congenital disorder of glycosylation type ib; congenital disorder of glycosylation, type ib; mannose-6-phosphate isomerase congenital disorder of glycosylation; mannosephosphate isomerase congenital disorder of glycosylation; mannosephosphate isomerase deficiency; mpi deficiency; mpi-cdg; mpi-cdg - mannosephosphate isomerase congenital disorder of glycosylation; mpi-cdg (cdg-ib); phosphomannose isomerase deficiency; protein-losing enteropathy-hepatic fibrosis syndrome","Curated_Disease_Description_Source__c":"MONDO:0011257","Curated_Disease_Description__c":"MPI-CDG is a form of congenital disorders of N-linked glycosylation, characterized by cyclic vomiting, profound hypoglycemia, failure to thrive, liver fibrosis, gastrointestinal complications (protein-losing enteropathy with hypoalbuminaemia, life-threatening intestinal bleeding of diffuse origin), and thrombotic events (protein C and S deficiency, low anti-thrombin III levels), whereas neurological development and cognitive capacity is usually normal. The clinical course is variable even within families. The disease is caused by loss of function of the gene MPI (15q24.1).","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:79319","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011257","ORPHANET_ID__c":"ORPHA:79319","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Mpi-cdg","Spanish_Description_Source__c":"ORPHA:79319","Spanish_Description__c":"Es un trastorno congénito de la N-glicosilación caracterizado por vómitos cíclicos, grave hipoglucemia, fallo de medro, fibrosis hepática, complicaciones gastrointestinales (enteropatía perdedora de proteínas con hipoalbuminemia, hemorragia intestinal de origen desconocido y potencialmente letal) y eventos trombóticos (deficiencia de proteína C y S, niveles bajos de antitrombina III), mientras que el desarrollo neurológico y la función cognitiva suelen ser normales. El curso clínico de la enfermedad suele ser variable, incluso dentro de una misma familia. La enfermedad está causada por la pérdida de función en el gen <i>MPI</i> (15q24.1).","Spanish_Disease_Name__c":"mpi-cdg","Spanish_GARD_Synonym__c":"cdg-ib; cdg1b; deficiencia de fosfomanosa isomerasa; síndrome cdg tipo ib; síndrome de glicoproteínas deficientes en carbohidratos tipo ib; trastorno congénito de la glicosilación tipo 1b; trastorno congénito de la glicosilación tipo ib","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":"MPI-CDG is a form of congenital disorders of N-linked glycosylation, characterized by cyclic vomiting, profound hypoglycemia, failure to thrive, liver fibrosis, gastrointestinal complications (protein-losing enteropathy with hypoalbuminaemia, life-threatening intestinal bleeding of diffuse origin), and thrombotic events (protein C and S deficiency, low anti-thrombin III levels), whereas neurological development and cognitive capacity is usually normal. The clinical course is variable even within families. The disease is caused by loss of function of the gene MPI (15q24.1).","Curated_Disease_Description_Source__c":"MONDO:0011257","GARD_Synonym__c":"carbohydrate deficient glycoprotein syndrome type ib; cdg ib; cdg syndrome type ib; cdg-ib; cdg1b; congenital disorder of glycosylation type 1b; congenital disorder of glycosylation type ib; congenital disorder of glycosylation, type ib; mannose-6-phosphate isomerase congenital disorder of glycosylation; mannosephosphate isomerase congenital disorder of glycosylation; mannosephosphate isomerase deficiency; mpi deficiency; mpi-cdg; mpi-cdg - mannosephosphate isomerase congenital disorder of glycosylation; mpi-cdg (cdg-ib); phosphomannose isomerase deficiency; protein-losing enteropathy-hepatic fibrosis syndrome","Name":"MPI-congenital disorder of glycosylation","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"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":"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":"Gastroenterology","Tag_Category__c":"Disease Category;Specialist","category_description":"Gastrointestinal diseases, or digestive diseases, affect the esophagus, stomach, small intestine, large intestine, liver, gallbladder, or pancreas.","curated_tag_name":"Gastrointestinal 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":"Vascular Medicine","Tag_Category__c":"Specialist","curated_tag_name":"Vascular diseases"},{"Tag_Name__c":"Neurodevelopmental disabilities","Tag_Category__c":"Specialist","curated_tag_name":"Neurodevelopmental disabilities"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:79319"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:79319"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0009830","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1332","Source__c":"Gene Review","Xref__c":"NBK1332"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0080554","Source__c":"MONDO:0011257","Xref__c":"DOID:0080554"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1865145","Source__c":"C1865145","Xref__c":"C1865145"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C535740","Source__c":"MONDO:0011257","Xref__c":"C535740"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=124668009","Source__c":"MONDO:0011257","Xref__c":"124668009"},{"URL__c":"https://www.orpha.net/en/disease/detail/79319","Source__c":"C1865145; MONDO:0011257; ORPHA:79319","Xref__c":"ORPHA:79319"},{"URL__c":"https://www.omim.org/entry/602579","Source__c":"C1865145; MONDO:0011257; ORPHA:79319","Xref__c":"OMIM:602579"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=400692","Source__c":"C1865145","Xref__c":"MEDGEN:400692"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1231141008","Source__c":"C1865145","Xref__c":"1231141008"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C206519","Source__c":"C1865145","Xref__c":"C206519"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011257","Source__c":"GARD:0009830","Xref__c":"MONDO:0011257"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"MPI","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:79319","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Venous or arterial thrombosis (formation of blood clots) of spontaneous nature and which cannot be fully explained by acquired risk (e.g. atherosclerosis).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001977","HPO_Synonym__c":"Abnormal blood clot; Abnormal blood clotting","HPO_Name__c":"Abnormal thrombosis","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79319","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002013","HPO_Synonym__c":"Emesis; Throwing up; Vomiting","HPO_Name__c":"Vomiting","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79319","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"An abnormality of the nervous system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000707","HPO_Synonym__c":"Abnormality of the nervous system; Neurologic abnormalities; Neurological abnormality","HPO_Name__c":"Abnormality of the nervous system","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79319","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001249","HPO_Synonym__c":"Intellectual disability; Mental deficiency; Mental retardation; Mental retardation, nonspecific; Mental-retardation; Nonprogressive intellectual disability; Nonprogressive mental retardation","HPO_Name__c":"Intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79319","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased pressure in the portal vein.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001409","HPO_Name__c":"Portal hypertension","Feature_System__c":"Cardiovascular System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79319","HPO_Frequency__c":"Always (100%)","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:79319","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The concentration of albumin in the blood circulation is below the lower limit of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003073","HPO_Synonym__c":"Decreased albumin concentration; Decreased albumin level; Decreased albumin level in blood; Decreased circulating abumin concentration; Hypoalbuminaemia; Hypoalbuminemia; Low blood albumin; Reduced albumin concentration; Reduced albumin level; Reduced albumin level in blood","HPO_Name__c":"Hypoalbuminemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:79319","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal loss of protein from the digestive tract related to excessive leakage of plasma proteins into the lumen of the gastrointestinal tract.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002243","HPO_Name__c":"Protein-losing enteropathy","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79319","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Reduced antithrombin antigen. A reduced level of antithrombin may lead to an increased risk of thrombus formation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040246","HPO_Name__c":"Reduced antithrombin antigen","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79319","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000969","HPO_Synonym__c":"Dropsy; Fluid retention; Hydrops; Oedema; Water retention","HPO_Name__c":"Edema","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79319","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An increased concentration of insulin combined with a decreased concentration of glucose in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000825","HPO_Synonym__c":"Hyperinsulinaemic hypoglycaemia; Hyperinsulinemia hypoglycemia","HPO_Name__c":"Hyperinsulinemic hypoglycemia","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:79319","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Decreased activity of coagulation factor XI. Factor XI, also known as plasma thromboplastin antecedent, is a serine proteinase that activates factor IX.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001929","HPO_Synonym__c":"Low factor XI activity","HPO_Name__c":"Reduced factor XI activity","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79319","HPO_Frequency__c":"Very frequent (80-99%)","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":"ORPHA:79319","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002014","HPO_Synonym__c":"Diarrhea; Watery stool","HPO_Name__c":"Diarrhea","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79319","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001508","HPO_Synonym__c":"Faltering weight; FTT; Postnatal failure to thrive; Weight faltering","HPO_Name__c":"Failure to thrive","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79319","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Deficiency of thyroid hormone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000821","HPO_Synonym__c":"Low T4; Underactive thyroid","HPO_Name__c":"Hypothyroidism","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79319","HPO_Frequency__c":"Very frequent (80-99%)","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":"ORPHA:79319","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of coagulation related to a decreased concentration of vitamin K-dependent protein C. Protein C is activated to protein Ca by thrombin bound to thrombomodulin. Activated protein C degrades factors VIIIa and Va.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005543","HPO_Synonym__c":"Protein C deficiency","HPO_Name__c":"Reduced protein C activity","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79319","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of coagulation related to a decreased concentration of vitamin K-dependent protein S. Protein S is a cofactor of protein C.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004855","HPO_Name__c":"Reduced protein S activity","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79319","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the coagulation cascade, which is comprised of the contact activation pathway (also known as the intrinsic pathway) and the tissue factor pathway (also known as the extrinsic pathway) as well as cofactors and regulators.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003256","HPO_Synonym__c":"Coagulopathy","HPO_Name__c":"Abnormality of the coagulation cascade","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79319","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Hemorrhage affecting the gastrointestinal tract.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002239","HPO_Synonym__c":"Gastrointestinal bleeding; GI hemorrhage","HPO_Name__c":"Gastrointestinal hemorrhage","Feature_System__c":"Cardiovascular System; Digestive System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79319","HPO_Frequency__c":"Frequent (30-79%)","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"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Neurology","Gastroenterology","Inborn Errors of Metabolism"],"Specialist":["Genetics","Neurology","Gastroenterology","Vascular Medicine","Neurodevelopmental disabilities","Pediatrics"]},"synonyms":["carbohydrate deficient glycoprotein syndrome type ib"," cdg ib"," cdg syndrome type ib"," cdg-ib"," cdg1b"," congenital disorder of glycosylation type 1b"," congenital disorder of glycosylation type ib"," congenital disorder of glycosylation, type ib"," mannose-6-phosphate isomerase congenital disorder of glycosylation"," mannosephosphate isomerase congenital disorder of glycosylation"," mannosephosphate isomerase deficiency"," mpi deficiency"," mpi-cdg"," mpi-cdg - mannosephosphate isomerase congenital disorder of glycosylation"," mpi-cdg (cdg-ib)"," phosphomannose isomerase deficiency"," protein-losing enteropathy-hepatic fibrosis syndrome"]}