Phenotypes associated with the disease diarrhea 12, with microvillus atrophy (OMIM:619445):
- 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:29282386)
- Bronchiectasis (HP:0002110): Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways. Evidence: PCS. Frequency: 1/1. (PMID:24726755)
- Respiratory tract infection (HP:0011947): An infection of the upper or lower respiratory tract. Evidence: PCS. Frequency: 1/1. (PMID:24726755)
- 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: PCS. Frequency: 1/1. (PMID:24726755)
- Villous atrophy (HP:0011473): The enteric villi are atrophic or absent. Evidence: PCS. Frequency: 2/2. (PMID:29282386;PMID:24726755)
- Dependency on parenteral nutrition (HP:0033994): Inability to ingest sufficient quantities of nutrition by mouth or by tube-feeding with the corresponding requirement for intravenous administration of nutrition. Evidence: PCS. Frequency: 1/1. (PMID:30909251)
- 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:24726755)
- Microvillar PAS-positive secretory granules (HP:0033996): The presenceaccumulationof periodic acid-Schiff (PAS) granules in the subapical region of small intenstinal microvilli, appearing as different kinds of vesicular/tubular structures. Evidence: PCS. Frequency: 1/1. (PMID:30909251)
- Abdominal distention (HP:0003270): Distention of the abdomen. Evidence: PCS. Frequency: 1/1. (PMID:29282386)
- Microvillus inclusions (HP:0033995): The presence of vacuoles bearing centripetal microvilli in small gut villus enterocytes. Evidence: PCS. Frequency: 1/1. (PMID:30909251)
- Secretory diarrhea (HP:0005208): Watery voluminous diarrhea resulting from an imbalance between ion and water secretion and absorption. Evidence: PCS. Frequency: 2/2. (PMID:29282386;PMID:24726755)
- 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: PCS. Frequency: 2/2. (PMID:29282386;PMID:24726755)