Phenotypes associated with the disease hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome (OMIM:615710):
- Diarrhea (HP:0002014): Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day. Evidence: TAS. (OMIM:615710)
- Meckel diverticulum (HP:0002245): Meckel's diverticulum is a congenital diverticulum located in the distal ileum. Evidence: PCS. Frequency: 1/10. (PMID:26264437)
- Cholestasis (HP:0001396): Impairment of bile flow due to obstruction in bile ducts. Evidence: PCS. Frequency: 7/10. (PMID:26264437)
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 9/10. (PMID:26264437)
- Ascites (HP:0001541): Accumulation of fluid in the peritoneal cavity (between the layers of the peritoneum that lines the abdomen). Evidence: PCS. Frequency: 1/10. (PMID:26264437)
- Jejunal atresia (HP:0005235): A developmental defect resulting in abnormal closure, or atresia of the tubular structure of the jejunum. Evidence: TAS. Frequency: 4/10. (OMIM:615710)
- Malabsorption (HP:0002024): Impaired ability to absorb one or more nutrients from the intestine. Evidence: PCS. (PMID:26264437)
- Pancreatic hypoplasia (HP:0002594): Hypoplasia of the pancreas. Evidence: PCS. Frequency: 2/10. (PMID:26264437)
- Absent gallbladder (HP:0011467): A developmental defect in which the gallbladder fails to form. Evidence: PCS. Frequency: 8/10. (PMID:26264437)
- Hyperglycemia (HP:0003074): An increased concentration of glucose in the blood. Evidence: TAS. (OMIM:615710)
- Acholic stools (HP:0011985): Clay colored stools lacking bile pigment. Evidence: TAS. (OMIM:615710)
- Diabetes mellitus (HP:0000819): A group of abnormalities characterized by hyperglycemia and glucose intolerance. Evidence: PCS. Frequency: 10/10. (PMID:26264437)
- Hyperbilirubinemia (HP:0002904): An increased amount of bilirubin in the blood. Evidence: TAS. (OMIM:615710)
- Annular pancreas (HP:0001734): A congenital anomaly in which the pancreas completely (or sometimes incompletely) encircles the second portion of duodenum and occasionally obstructs the more proximal duodenum. Evidence: PCS. Frequency: 4/10. (PMID:26264437)
- 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:20148032)
- Intrauterine growth retardation (HP:0001511): An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age. Evidence: TAS. (OMIM:615710)
- Biliary atresia (HP:0005912): Atresia of the biliary tree. Evidence: TAS. (OMIM:615710)
- Duodenal atresia (HP:0002247): A developmental defect resulting in complete obliteration of the duodenal lumen, that is, an abnormal closure of the duodenum. Evidence: PCS. Frequency: 9/10. (PMID:26264437)
- Intestinal malrotation (HP:0002566): An abnormality of the intestinal rotation and fixation that normally occurs during the development of the gut. This can lead to volvulus, or twisting of the intestine that causes obstruction and necrosis. Evidence: PCS. Frequency: 5/10. (PMID:26264437)
- Anteriorly placed anus (HP:0001545): Anterior malposition of the anus. Evidence: PCS. Frequency: 1/10. (PMID:26264437)