Phenotypes associated with the disease MPI-CDG (ORPHA:79319):
- Abnormal circulating enzyme concentration or activity (HP:0012379): Concentration or activity of an enzyme is above or below the limits of normal in the blood circulation. Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:79319)
- Hepatic fibrosis (HP:0001395): The presence of excessive fibrous connective tissue in the liver. Fibrosis is a reparative or reactive process. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:79319)
- Diarrhea (HP:0002014): Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:79319)
- Hepatomegaly (HP:0002240): Abnormally increased size of the liver. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:79319)
- Hypoalbuminemia (HP:0003073): The concentration of albumin in the blood circulation is below the lower limit of normal. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:79319)
- Abnormality of the coagulation cascade (HP:0003256): 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. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:79319)
- Reduced antithrombin antigen (HP:0040246): Reduced antithrombin antigen. A reduced level of antithrombin may lead to an increased risk of thrombus formation. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:79319)
- Hyperinsulinemic hypoglycemia (HP:0000825): An increased concentration of insulin combined with a decreased concentration of glucose in the blood. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79319)
- Edema (HP:0000969): An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79319)
- Portal hypertension (HP:0001409): Increased pressure in the portal vein. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79319)
- Decreased liver function (HP:0001410): Reduced ability of the liver to perform its functions. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79319)
- Failure to thrive (HP:0001508): Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79319)
- Reduced factor XI activity (HP:0001929): Decreased activity of coagulation factor XI. Factor XI, also known as plasma thromboplastin antecedent, is a serine proteinase that activates factor IX. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79319)
- Abnormal thrombosis (HP:0001977): Venous or arterial thrombosis (formation of blood clots) of spontaneous nature and which cannot be fully explained by acquired risk (e.g. atherosclerosis). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79319)
- Vomiting (HP:0002013): Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79319)
- Gastrointestinal hemorrhage (HP:0002239): Hemorrhage affecting the gastrointestinal tract. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79319)
- Protein-losing enteropathy (HP:0002243): Abnormal loss of protein from the digestive tract related to excessive leakage of plasma proteins into the lumen of the gastrointestinal tract. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79319)
- Reduced protein S activity (HP:0004855): An abnormality of coagulation related to a decreased concentration of vitamin K-dependent protein S. Protein S is a cofactor of protein C. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79319)
- Reduced protein C activity (HP:0005543): 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. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79319)
- Hypothyroidism (HP:0000821): Deficiency of thyroid hormone. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79319)
Not associated with this disease:
- Abnormality of the nervous system (HP:0000707): An abnormality of the nervous system. Evidence: TAS. (ORPHA:79319)
- Intellectual disability (HP:0001249): 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. Evidence: TAS. (ORPHA:79319)