TULP3
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 47.4% | 9/19 |
| Female | 52.6% | 10/19 |
| Indifferent | 0% | 0/19 |
| Unknown | 0% | 0/19 |
| General | ||
| Birth Length abnormalities | 0% | 0/19 |
| Birth Weight abnormalities | 0% | 0/19 |
| Birth Head circumference abnormalities | 0% | 0/19 |
| Current Height abnormalities | 0% | 0/19 |
| Current Weight abnormalities | 0% | 0/19 |
| Current Head circumference abnormalities | 0% | 0/19 |
| Neurology | ||
| Neurological abnormalities | 21.1% | 4/19 |
| Hepatic encephalopathy | 10.5% | 2/19 |
| Constrictive median neuropathy | 5.3% | 1/19 |
| Facial palsy | 5.3% | 1/19 |
| Heart | ||
| Abnormality of the heart | 27.8% | 5/18 |
| Hypertrophic cardiomyopathy | 16.7% | 3/18 |
| Hypertension | 11.1% | 2/18 |
| Left ventricular hypertrophy | 5.6% | 1/18 |
| Myocardial fibrosis | 5.6% | 1/18 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 94.7% | 18/19 |
| Portal hypertension | 52.6% | 10/19 |
| Hepatosplenomegaly | 47.4% | 9/19 |
| Cirrhosis | 42.1% | 8/19 |
| Hepatic bridging fibrosis | 31.6% | 6/19 |
| Abnormal liver parenchyma morphology | 26.3% | 5/19 |
| Esophageal varix | 21.1% | 4/19 |
| Cholestasis | 15.8% | 3/19 |
| Jaundice | 10.5% | 2/19 |
| Abdominal pain | 5.3% | 1/19 |
| Abnormal esophagus morphology | 5.3% | 1/19 |
| Abnormality of the spleen | 5.3% | 1/19 |
| Abnormality of the liver | 5.3% | 1/19 |
| Acute pancreatitis | 5.3% | 1/19 |
| Ascites | 5.3% | 1/19 |
| Biliary cirrhosis | 5.3% | 1/19 |
| Cholestatic liver disease | 5.3% | 1/19 |
| Chronic pancreatitis | 5.3% | 1/19 |
| Gastrointestinal hemorrhage | 5.3% | 1/19 |
| Hepatic fibrosis | 5.3% | 1/19 |
| Hepatitis | 5.3% | 1/19 |
| Hepatic failure | 5.3% | 1/19 |
| Pancreatic cysts | 5.3% | 1/19 |
| Splenomegaly | 5.3% | 1/19 |
| Urogenital | ||
| Abnormality of the urogenital system | 88.9% | 16/18 |
| Renal insufficiency | 44.4% | 8/18 |
| Hyperechogenic kidneys | 38.9% | 7/18 |
| Enlarged kidney | 33.3% | 6/18 |
| Polycystic kidney dysplasia | 22.2% | 4/18 |
| Renal corticomedullary cysts | 16.7% | 3/18 |
| Renal cyst | 16.7% | 3/18 |
| Glomerular sclerosis | 11.1% | 2/18 |
| Multicystic kidney dysplasia | 11.1% | 2/18 |
| Reduced renal corticomedullary differentiation | 11.1% | 2/18 |
| Abnormal renal tubule morphology | 5.6% | 1/18 |
| Absence of renal corticomedullary differentiation | 5.6% | 1/18 |
| Chronic kidney disease | 5.6% | 1/18 |
| Hydronephrosis | 5.6% | 1/18 |
| Multiple small medullary renal cysts | 5.6% | 1/18 |
| Nephropathy | 5.6% | 1/18 |
| Polyuria | 5.6% | 1/18 |
| Renal fibrosis | 5.6% | 1/18 |
| Renal cortical cysts | 5.6% | 1/18 |
| Renal tubular atrophy | 5.6% | 1/18 |
| Tubulointerstitial fibrosis | 5.6% | 1/18 |
| Unilateral renal hypoplasia | 5.6% | 1/18 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the metabolic system | 72.2% | 13/18 |
| Elevated circulating hepatic transaminase concentration | 72.2% | 13/18 |
| Decreased circulating ferritin concentration | 5.6% | 1/18 |
| Elevated circulating creatinine concentration | 5.6% | 1/18 |
| Abnormality of the immune system | 10.5% | 2/19 |
| Abnormality of the inner ear | 5.3% | 1/19 |
| Recurrent tonsillitis | 5.3% | 1/19 |
| Recurrent cystitis | 5.3% | 1/19 |
| Viral hepatitis | 5.3% | 1/19 |
| Neoplasia | ||
| Neoplasia | 15.8% | 3/19 |
| Basal cell carcinoma | 5.3% | 1/19 |
| Hepatocellular carcinoma | 5.3% | 1/19 |
| Lung adenocarcinoma | 5.3% | 1/19 |
| Squamous cell carcinoma | 5.3% | 1/19 |