Phenotypes associated with the disease glucose-galactose malabsorption (OMIM:606824):
- Malabsorption (HP:0002024): Impaired ability to absorb one or more nutrients from the intestine. Evidence: IEA. (OMIM:606824)
- Failure to thrive (HP:0001508): Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. Evidence: TAS. (OMIM:606824)
- Glycosuria (HP:0003076): An increased concentration of glucose in the urine. Evidence: TAS. (OMIM:606824)
- Hyperactive bowel sounds (HP:0030143): Abnormally increased gurgling/rumbling sounds made by the movement of fluid and gas in the intestines. Evidence: TAS. (OMIM:606824)
- 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:2008213)
- Abnormal oral glucose tolerance (HP:0004924): 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 administration of glucose. Evidence: TAS. (OMIM:606824)
- Abdominal distention (HP:0003270): Distention of the abdomen. Evidence: TAS. (OMIM:606824)
- 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. (OMIM:606824)
- Hypertonic dehydration (HP:0001986). Evidence: PCS. Frequency: 2/2. (PMID:2008213)
- Chronic diarrhea (HP:0002028): The presence of chronic diarrhea, which is usually taken to mean diarrhea that has persisted for over 4 weeks. Evidence: PCS. Frequency: 2/2. (PMID:2008213)
- Neonatal onset (HP:0003623): Onset of signs or symptoms of disease within the first 28 days of life. Evidence: PCS. Frequency: 2/2. (PMID:2008213)