Phenotypes associated with the disease visceral myopathy 1 (OMIM:155310):
- Diarrhea (HP:0002014): Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day. Evidence: TAS. (OMIM:155310)
- Dysphagia (HP:0002015): Difficulty in swallowing. Evidence: IEA. (OMIM:155310)
- Megacystis (HP:0000021): Dilatation of the bladder postnatally. Evidence: TAS. (OMIM:155310)
- Polyhydramnios (HP:0001561): The presence of excess amniotic fluid in the uterus during pregnancy. Evidence: TAS. (OMIM:155310)
- Vesicoureteral reflux (HP:0000076): Abnormal (retrograde) movement of urine from the bladder into ureters or kidneys related to inadequacy of the valvular mechanism at the ureterovesicular junction or other causes. Evidence: IEA. (OMIM:155310)
- Megaduodenum (HP:0030996): Dilation and elongation of the duodenum with hypertrophy of all layers of the duodenum. Evidence: PCS. Frequency: 6/6. (PMID:2806997)
- Intestinal pseudo-obstruction (HP:0004389): A functional rather than mechanical obstruction of the intestines, associated with manifestations that resemble those caused by an intestinal obstruction, including distension, abdominal pain, nausea, vomiting, constipation or diarrhea, in an individual in whom a mechanical blockage has been excluded. Evidence: TAS. (OMIM:155310)
- Microcolon (HP:0004388): A colon of abnormally small caliber. Evidence: TAS. (OMIM:155310)
- Vomiting (HP:0002013): Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions. Evidence: TAS. (OMIM:155310)
- Aganglionic megacolon (HP:0002251): An abnormality resulting from a lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) that results in bowel obstruction with enlargement of the colon. Evidence: IEA. (OMIM:155310)
- Malnutrition (HP:0004395): A deficiency in the intake of energy and nutrients. Evidence: TAS. (OMIM:155310)
- Abdominal distention (HP:0003270): Distention of the abdomen. Evidence: PCS. Frequency: 1/6. (PMID:2806997)
- Thinning of outer muscular layer of small bowel (HP:6000072): The depth of the outer muscular layer of the small bowel is below the lower limit of normal. Evidence: TAS. (OMIM:155310)
- Constipation (HP:0002019): Infrequent or difficult evacuation of feces. Evidence: PCS. (PMID:2806997)
- Abdominal pain (HP:0002027): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen. Evidence: IEA. (OMIM:155310)
- Autosomal dominant inheritance (HP:0000006): 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: TAS. (OMIM:155310)
- Pancreatitis (HP:0001733): The presence of inflammation in the pancreas. Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:155310)
- Hydronephrosis (HP:0000126): Severe distention of the kidney with dilation of the renal pelvis and calices. Evidence: TAS. (OMIM:155310)
- Urinary retention (HP:0000016): Inability to completely empty the urinary bladder during the process of urination. Evidence: PCS. Frequency: 1/6. (PMID:2806997)
- Gastroparesis (HP:0002578): Decreased strength of the muscle layer of stomach, which leads to a decreased ability to empty the contents of the stomach despite the absence of obstruction. Evidence: PCS. Frequency: 1/6. (PMID:2806997)