Phenotypes associated with the disease glycogen storage disease due to GLUT2 deficiency (OMIM:227810):
- Malabsorption (HP:0002024): Impaired ability to absorb one or more nutrients from the intestine. Evidence: IEA. (OMIM:227810)
- Beta 2-microglobulinuria (HP:0025466): Increased level of beta 2-microglobulins in the urine. Evidence: PCS. Frequency: 2/3. (PMID:11044475)
- Elevated circulating alkaline phosphatase concentration (HP:0003155): Abnormally increased serum levels of alkaline phosphatase activity. Evidence: PCS. Frequency: 1/3. (PMID:11044475)
- Glycosuria (HP:0003076): An increased concentration of glucose in the urine. Evidence: PCS. Frequency: 3/3. (PMID:11044475)
- Hepatomegaly (HP:0002240): Abnormally increased size of the liver. Evidence: PCS. Frequency: 2/3. (PMID:11044475)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 1/3. (PMID:11044475)
- Postprandial hyperglycemia (HP:0011998): An increased concentration of glucose in the blood following a meal. Evidence: PCS. Frequency: 1/3. (PMID:11044475)
- Abdominal distention (HP:0003270): Distention of the abdomen. Evidence: IEA. (OMIM:227810)
- Increased serum bile acid concentration (HP:0012202): An increase in the concentration of bile acid in the blood. Evidence: PCS. Frequency: 1/3. (PMID:11044475)
- Chronic acidosis (HP:0012468): Longstanding abnormal acid accumulation or depletion of base. Evidence: TAS. (OMIM:227810)
- Elevated circulating alanine aminotransferase concentration (HP:0031964): An abnormally high concentration in the circulation of alanine aminotransferase (ALT). Evidence: PCS. Frequency: 2/3. (PMID:11044475)
- Ketonuria (HP:0002919): High levels of ketone bodies (acetoacetic acid, beta-hydroxybutyric acid, and acetone) in the urine. Ketone bodies are insignificant in the blood and urine of normal individuals in the postprandial or overnight-fasted state. Evidence: PCS. Frequency: 1/3. (PMID:11044475)
- Failure to thrive (HP:0001508): Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. Evidence: PCS. Frequency: 1/3. (PMID:11044475)
- Impairment of galactose metabolism (HP:0004915): An impairment of galactose metabolism. Evidence: PCS. Frequency: 3/3. (PMID:11044475)
- Hyperphosphaturia (HP:0003109): An increased excretion of phosphates in the urine. Evidence: PCS. Frequency: 1/3. (PMID:11044475)
- Postnatal growth retardation (HP:0008897): Slow or limited growth after birth. Evidence: PCS. Frequency: 1/3. (PMID:11044475)
- Intrahepatic cholestasis (HP:0001406): Impairment of bile flow due to obstruction in the small bile ducts within the liver. Evidence: PCS. Frequency: 1/3. (PMID:11044475)
- Acidosis (HP:0001941): Abnormal acid accumulation or depletion of base. Evidence: IEA. (OMIM:227810)
- Neonatal onset (HP:0003623): Onset of signs or symptoms of disease within the first 28 days of life. Evidence: PCS. Frequency: 1/3. (PMID:11044475)
- 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: 2/3. (PMID:11044475)
- 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: IEA. (OMIM:227810)
- Poor appetite (HP:0004396): A reduced desire to eat. Evidence: IEA. (OMIM:227810)
- Fasting hypoglycemia (HP:0003162). Evidence: PCS. Frequency: 3/3. (PMID:11044475)
- Hypercalciuria (HP:0002150). Evidence: PCS. Frequency: 1/3. (PMID:11044475)
- Elevated gamma-glutamyltransferase level (HP:0030948): Increased level of the enzyme gamma-glutamyltransferase (GGT). GGT is mainly present in kidney, liver, and pancreatic cells, but small amounts are present in other tissues. Evidence: PCS. Frequency: 1/3. (PMID:11044475)
- Proteinuria (HP:0000093): Increased levels of protein in the urine. Evidence: PCS. Frequency: 1/3. (PMID:11044475)
- Hypergalactosemia (HP:0012024): The concentration of galactose in the blood circulation is above the upper limit of normal. Evidence: PCS. Frequency: 1/3. (PMID:11044475)
- Generalized aminoaciduria (HP:0002909): An increased concentration of all types of amino acid in the urine. Evidence: PCS. Frequency: 3/3. (PMID:11044475)
- Hyperbilirubinemia (HP:0002904): An increased amount of bilirubin in the blood. Evidence: PCS. Frequency: 1/3. (PMID:11044475)
- Rickets (HP:0002748): Rickets is divided into two major categories including calcipenic and phosphopenic. Hypophosphatemia is described as a common manifestation of both categories. Hypophosphatemic rickets is the most common type of rickets that is characterized by low levels of serum phosphate, resistance to ultraviolet radiation or vitamin D intake. There are several issues involved in hypophosphatemic rickets such as calcium, vitamin D, phosphorus deficiencies. Moreover, other disorder can be associated with its occurrence such as absorption defects due to pancreatic, intestinal, gastric, and renal disorders and hepatobiliary disease. Symptoms are usually seen in childhood and can be varied in severity. Severe forms may be linked to bowing of the legs, poor bone growth, and short stature as well as joint and bone pain. Hypophosphatemic rickets are associated with renal excretion of phosphate, hypophosphatemia, and mineral defects in bones. The familial type of the disease is the most common type of rickets. Evidence: PCS. Frequency: 1/3. (PMID:11044475)
- 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:11044475)
- Osteomalacia (HP:0002749): Osteomalacia is a general term for bone weakness owing to a defect in mineralization of the protein framework known as osteoid. This defective mineralization is mainly caused by lack in vitamin D. Osteomalacia in children is known as rickets. Evidence: IEA. (OMIM:227810)
- Hypokalemia (HP:0002900): The concentration of potassium(1+) in the blood circulation is below the lower limit of normal. Evidence: IEA. (OMIM:227810)
- Reduced subcutaneous adipose tissue (HP:0003758): A reduced amount of fat tissue in the lowest layer of the integument. This feature can be appreciated by a reduced skinfold thickness. Evidence: IEA. (OMIM:227810)
- Hypouricemia (HP:0003537): The concentration of uric acid in the blood circulation is below the lower limit of normal. Evidence: IEA. (OMIM:227810)
- Renal tubular dysfunction (HP:0000124): Abnormal function of the renal tubule. The basic functional unit of the kidney, the nephron, consists of a renal corpuscle attached to a renal tubule, with roughly 0.8 to 1.5 nephrons per adult kidney. The functions of the renal tubule include reabsorption of water, electrolytes, glucose, and amino acids and secretion of substances such as uric acid. Evidence: IEA. (OMIM:227810)
- Hypophosphatemia (HP:0002148): The concentration of phosphate ion in the blood circulation is below the lower limit of normal. Evidence: IEA. (OMIM:227810)