Phenotypes associated with the disease Fanconi-Bickel syndrome (ORPHA:2088):
- Failure to thrive (HP:0001508): Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2088)
- Renal tubular acidosis (HP:0001947): Acidosis owing to malfunction of the kidney tubules with accumulation of metabolic acids and hyperchloremia, potentially leading to complications including hypokalemia, hypercalcinuria, nephrolithiasis and nephrocalcinosis. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2088)
- Hypophosphatemia (HP:0002148): The concentration of phosphate ion in the blood circulation is below the lower limit of normal. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2088)
- Hyperphosphaturia (HP:0003109): An increased excretion of phosphates in the urine. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2088)
- Galactose intolerance (HP:0004919). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2088)
- Increased hepatic glycogen content (HP:0006568): An increase in the amount of glycogen stored in hepatocytes compared to normal. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2088)
- Impaired glucose tolerance (HP:0040270): An abnormal resistance to glucose, i.e., a reduction in the ability to maintain glucose levels in the blood stream within normal limits following oral or intravenous administration of glucose. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2088)
- Abnormal hepatic glycogen storage (HP:0500030): Change in normal glycogen storage content. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2088)
- Growth delay (HP:0001510): A deficiency or slowing down of growth pre- and postnatally. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2088)
- Metabolic acidosis (HP:0001942): Metabolic acidosis (MA) is characterized by a fall in blood pH due to a reduction of serum bicarbonate concentration. This can occur as a result of either the accumulation of acids (high anion gap MA) or the loss of bicarbonate from the gastrointestinal tract or the kidney (hyperchloremic MA). By definition, MA is not due to a respirary cause. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2088)
- Hypercalciuria (HP:0002150). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2088)
- Hepatomegaly (HP:0002240): Abnormally increased size of the liver. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2088)
- 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2088)
- Glycosuria (HP:0003076): An increased concentration of glucose in the urine. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2088)
- Fasting hypoglycemia (HP:0003162). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2088)
- Abdominal distention (HP:0003270): Distention of the abdomen. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2088)
- Postprandial hyperglycemia (HP:0011998): An increased concentration of glucose in the blood following a meal. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2088)
- Nephropathy (HP:0000112): A nonspecific term referring to disease or damage of the kidneys. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2088)
- Nephrocalcinosis (HP:0000121): Nephrocalcinosis is the deposition of calcium salts in renal parenchyma. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2088)
- Diabetes mellitus (HP:0000819): A group of abnormalities characterized by hyperglycemia and glucose intolerance. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2088)
- Osteopenia (HP:0000938): Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2088)
- Hepatic failure (HP:0001399). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2088)
- Hypertriglyceridemia (HP:0002155): An abnormal increase in the level of triglycerides in the blood. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2088)
- Generalized aminoaciduria (HP:0002909): An increased concentration of all types of amino acid in the urine. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2088)
- Elevated circulating alkaline phosphatase concentration (HP:0003155): Abnormally increased serum levels of alkaline phosphatase activity. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2088)
- Bowing of the long bones (HP:0006487): A bending or abnormal curvature of a long bone. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2088)
- Bone fracture (HP:0020110): A partial or complete breakage of the continuity of a bone. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2088)
- 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: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2088)
- Elevated circulating alanine aminotransferase concentration (HP:0031964): An abnormally high concentration in the circulation of alanine aminotransferase (ALT). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2088)
- Doll-like facies (HP:0000295): A characteristic facial appearance with a round facial form, full cheeks, a short nose, and a relatively small chin. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:2088)
- Hepatocellular carcinoma (HP:0001402): A kind of neoplasm of the liver that originates in hepatocytes and presents macroscopically as a soft and hemorrhagic tan mass in the liver. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:2088)