Phenotypes associated with the disease TMEM199-CDG (OMIM:616829):
- Hepatic steatosis (HP:0001397): Steatosis is a term used to denote lipid accumulation within hepatocytes. Evidence: PCS. Frequency: 5/5. (PMID:29321044;PMID:26833330)
- Decreased circulating ceruloplasmin concentration (HP:0010837): The concentration of ceruloplasmin in the blood circulation is below the lower limit of normal. Evidence: PCS. Frequency: 7/7. (PMID:29321044;PMID:26833330)
- Elevated circulating aspartate aminotransferase concentration (HP:0031956): The concentration of aspartate aminotransferase (AST) in the blood circulation is above the upper limit of normal. Evidence: PCS. Frequency: 7/7. (PMID:29321044;PMID:26833330)
- Elevated circulating creatine kinase activity (HP:0003236): The activity of creatine kinase in the blood circulation is above the upper limit of normal. Evidence: PCS. Frequency: 3/3. (PMID:29321044)
- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. Frequency: 3/4. (PMID:26833330)
- Decreased liver function (HP:0001410): Reduced ability of the liver to perform its functions. Evidence: TAS. (OMIM:616829)
- Hypercholesterolemia (HP:0003124): An increased concentration of cholesterol in the blood. Evidence: PCS. Frequency: 6/7. (PMID:29321044;PMID:26833330)
- Elevated circulating alkaline phosphatase concentration (HP:0003155): Abnormally increased serum levels of alkaline phosphatase activity. Evidence: PCS. Frequency: 7/7. (PMID:29321044;PMID:26833330)
- Global developmental delay (HP:0001263): 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. Evidence: PCS. Frequency: 1/7. (PMID:29321044;PMID:26833330)
- Hepatic fibrosis (HP:0001395): The presence of excessive fibrous connective tissue in the liver. Fibrosis is a reparative or reactive process. Evidence: PCS. Frequency: 5/7. (PMID:29321044;PMID:26833330)
- Hypotonia (HP:0001252): 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. Evidence: PCS. Frequency: 1/7. (PMID:29321044;PMID:26833330)
- Elevated circulating LDL-C concentration (HP:0003141): The concentration of low-density lipoprotein cholesterol in the blood circulation is above the upper limit of normal. Evidence: PCS. Frequency: 6/7. (PMID:29321044;PMID:26833330)
- Copper accumulation in liver (HP:0025321): An anomalous build up of copper (Cu) in the liver. Evidence: PCS. Frequency: 3/3. (PMID:29321044;PMID:26833330)
- Hepatomegaly (HP:0002240): Abnormally increased size of the liver. Evidence: PCS. Frequency: 3/7. (PMID:29321044;PMID:26833330)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 2/7. (PMID:29321044;PMID:26833330)
- Decreased circulating copper concentration (HP:0011967): The concentration of copper cation in the blood circulation is below the lower limit of normal. Evidence: PCS. Frequency: 3/3. (PMID:29321044)
- Type II transferrin isoform profile (HP:0012301): Abnormal transferrin isoform profile consistent with a type II congenital disorder of glycosylation. Evidence: PCS. Frequency: 7/7. (PMID:29321044;PMID:26833330)
- Abnormal protein N-linked glycosylation (HP:0012347): 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. Evidence: PCS. Frequency: 4/4. (PMID:26833330)
- Abnormal protein O-linked glycosylation (HP:0012358): 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. Evidence: PCS. Frequency: 3/4. (PMID:26833330)
- Elevated circulating alanine aminotransferase concentration (HP:0031964): An abnormally high concentration in the circulation of alanine aminotransferase (ALT). Evidence: PCS. Frequency: 7/7. (PMID:29321044;PMID:26833330)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 2/3. (PMID:29321044)
- Autosomal recessive inheritance (HP:0000007): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:26833330)
- Elevated circulating hepatic transaminase concentration (HP:0002910): 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. Evidence: PCS. Frequency: 4/4. (PMID:26833330)