- Cholestasis (HP:0001396): Impairment of bile flow due to obstruction in bile ducts. Evidence: PCS. Frequency: 0/1. (PMID:16855267)
- Abnormal circulating amino acid concentration (HP:0003112): Any deviation from the normal concentration of amino acid in the blood circulation. Evidence: PCS. Frequency: 0/3. (PMID:16855267)
- Malabsorption (HP:0002024): Impaired ability to absorb one or more nutrients from the intestine. Evidence: PCS. Frequency: 2/2. (PMID:16855267)
- Organic aciduria (HP:0001992): Excretion of non-amino organic acids in urine. Evidence: PCS. Frequency: 0/3. (PMID:16855267)
- Enteric anendocrinosis (HP:6001346): Near absence of small intestinal and colonic endocrine cells. This feature can be ascertained histopathologically and may also be manifested as a lack of staining for enteroendocrive markers such as synaptophysin. Evidence: PCS. Frequency: 3/3. (PMID:16855267)
- Abnormality of the liver (HP:0001392): An abnormality of the liver. Evidence: PCS. Frequency: 1/1. (PMID:16855267)
- Intractable diarrhea (HP:0002041). Evidence: PCS. Frequency: 2/3. (PMID:16855267)
- Hyperglycemia (HP:0003074): An increased concentration of glucose in the blood. Evidence: PCS. Frequency: 2/3. (PMID:16855267)
- Abnormal serum anion gap (HP:0031961): Any deviation from the normal value of the serum anion gap, which is calculated from the electrolytes measured in the chemical laboratory, is defined as the sum of serum chloride and bicarbonate concentrations subtracted from the serum sodium concentration. Evidence: PCS. Frequency: 0/1. (PMID:16855267)
- Increased stool alpha1-antitrypsin concentration (HP:0031686): An abnormally elevated amount of alpha1-antitrypsin in the feces. Evidence: PCS. Frequency: 1/2. (PMID:16855267)
- Failure to thrive (HP:0001508): Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. Evidence: PCS. Frequency: 1/1. (PMID:16855267)
- Hyperchloremic metabolic acidosis (HP:0004918): A form of metabolic acidosis with increased serum chloride levels. Evidence: PCS. Frequency: 3/3. (PMID:16855267)
- Dehydration (HP:0001944). Evidence: PCS. Frequency: 3/3. (PMID:16855267)
- Sepsis (HP:0100806): Sepsis is defined as life-threatening organ dysfunction caused by a dysregulated host response to infection. Evidence: PCS. Frequency: 1/1. (PMID:16855267)
- Macrovesicular hepatic steatosis (HP:0001403): A form of hepatic steatosis characterized by the presence of large, lipid-laden vesicles in the affected hepatocytes. Evidence: PCS. Frequency: 1/1. (PMID:16855267)
- Multiple mitochondrial DNA deletions (HP:0003689): The presence of multiple deletions of mitochondrial DNA (mtDNA). Evidence: PCS. Frequency: 0/2. (PMID:16855267)
- Neonatal onset (HP:0003623): Onset of signs or symptoms of disease within the first 28 days of life. Evidence: PCS. Frequency: 3/3. (PMID:16855267)
- Diarrhea (HP:0002014): Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day. Evidence: PCS. (PMID:16855267)
- Fat malabsorption (HP:0002630): Abnormality of the absorption of fat from the gastrointestinal tract. Evidence: PCS. Frequency: 1/1. (PMID:16855267)
- Hypertriglyceridemia (HP:0002155): An abnormal increase in the level of triglycerides in the blood. Evidence: PCS. Frequency: 0/3. (PMID:16855267)
- Decreased small intestinal mucosa lactase level (HP:0025130): Lactase is produced in the small intestine in humans, Lactase is a member of the beta-galactosidase family of enzymes, and hydrolyzes D-lactose to form D-galactose and D-glucose, which can be absorbed by the small intestine. There are many ways of assessing lactase activity. In one test, an endoscopic biopsy from the postbulbar duodenum is incubated with lactose on a test plate, and a color reaction develops within 20 min as a result of hydrolyzed lactose (a positive result) in patients with normolactasia, whereas no reaction (a negative result) develops in patients with severe hypolactasia. Other, less direct, tests include the hydrogen breath test, and blood tests following lactose challenges. Evidence: PCS. Frequency: 0/3. (PMID:16855267)
- Hypercholesterolemia (HP:0003124): An increased concentration of cholesterol in the blood. Evidence: PCS. Frequency: 0/3. (PMID:16855267)
- Increased circulating pyruvate concentration (HP:0003542): The concentration of pyruvate in the blood circulation is above the upper limit of normal. Evidence: PCS. Frequency: 0/2. (PMID:16855267)
- Vomiting (HP:0002013): Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions. Evidence: PCS. Frequency: 1/1. (PMID:16855267)
- Increased circulating lactate concentration (HP:0002151): Abnormally increased level of blood lactate (2-hydroxypropanoic acid). Lactate is produced from pyruvate by lactate dehydrogenase during normal metabolism. The terms lactate and lactic acid are often used interchangeably but lactate (the component measured in blood) is strictly a weak base whereas lactic acid is the corresponding acid. Lactic acidosis is often used clinically to describe elevated lactate but should be reserved for cases where there is a corresponding acidosis (pH below 7.35). Evidence: PCS. Frequency: 0/2. (PMID:16855267)
- Cholelithiasis (HP:0001081): Hard, pebble-like deposits that form within the gallbladder. Evidence: PCS. Frequency: 1/3. (PMID:16855267)
- Tetany (HP:0001281): A condition characterized by intermittent involuntary contraction of muscles (spasms) related to hypocalcemia or occasionally magnesium deficiency. Evidence: PCS. Frequency: 1/1. (PMID:16855267)
- Elevated sweat chloride (HP:0012236): An increased concentration of chloride in the sweat. Evidence: PCS. Frequency: 0/3. (PMID:16855267)
- Hepatitis (HP:0012115): Inflammation of the liver. Evidence: PCS. Frequency: 1/1. (PMID:16855267)
- 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: 1/1. (PMID:16855267)
- 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:16855267)
- Microvesicular hepatic steatosis (HP:0001414): A form of hepatic steatosis characterized by the presence of small, lipid-laden vesicles in the affected hepatocytes. Evidence: PCS. Frequency: 1/1. (PMID:16855267)
These phenotypes are associated with the disease congenital malabsorptive diarrhea 4 (OMIM:610370).