Hyperinsulinemic Hypoglycemia, Familial, 4
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
1
|
3
|
0.700 |
None |
1.000 |
2 |
3
|
2001 |
2016 |
Hypoglycemic encephalopathy
|
disease |
Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Increased C-peptide level
|
phenotype |
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Hyperleucinemia
|
phenotype |
|
Disease or Syndrome
|
2
|
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Increased circulating free fatty acid level
|
phenotype |
|
Finding
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Decreased activity of 3-hydroxyacyl-CoA dehydrogenase
|
phenotype |
|
Finding
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
3-Hydroxyacyl-CoA Dehydrogenase Deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
4
|
3
|
0.700 |
definitive |
1.000 |
7 |
3
|
2001 |
2016 |
Hepatic Necrosis, CTCAE 3.0
|
phenotype |
|
Finding
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
Hepatic Necrosis, CTCAE 5.0
|
phenotype |
|
Finding
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
Dicarboxylic aciduria
|
phenotype |
|
Finding
|
8
|
|
0.100 |
None |
|
0 |
|
|
|
Fasting hyperinsulinemia
|
phenotype |
Nutritional and Metabolic Diseases
|
Finding
|
10
|
|
0.100 |
None |
|
0 |
|
|
|
Ketotic hypoglycemia
|
phenotype |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
15
|
1
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Carnitine deficiency
|
phenotype |
|
Finding
|
15
|
1
|
0.100 |
None |
|
0 |
|
|
|
Hypoketotic hypoglycemia
|
phenotype |
Nutritional and Metabolic Diseases
|
Finding
|
15
|
|
0.100 |
None |
|
0 |
|
|
|
Myoglobinuria
|
phenotype |
Musculoskeletal Diseases
|
Finding
|
17
|
1
|
0.100 |
None |
|
0 |
|
|
|
Hypoglycemic coma
|
disease |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
19
|
|
0.100 |
None |
|
0 |
|
|
|
Hypoglycemic seizures
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
19
|
|
0.100 |
None |
|
0 |
|
|
|
Proportionate short stature
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Finding
|
19
|
11
|
0.100 |
None |
|
0 |
|
|
|
Trifunctional Protein Deficiency With Myopathy And Neuropathy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
23
|
34
|
0.010 |
None |
1.000 |
1 |
|
1998 |
1998 |
Peroxisomal Disorders
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
25
|
1
|
0.010 |
None |
1.000 |
1 |
|
1997 |
1997 |
Prothrombin time increased
|
phenotype |
Hemic and Lymphatic Diseases
|
Finding
|
30
|
|
0.100 |
None |
|
0 |
|
|
|
Prolonged QT interval
|
phenotype |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Finding
|
38
|
12
|
0.100 |
None |
|
0 |
|
|
|
Hepatic necrosis
|
phenotype |
Digestive System Diseases
|
Disease or Syndrome
|
44
|
|
0.100 |
None |
|
0 |
|
|
|
Hyperinsulinemic hypoglycemia
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
52
|
6
|
0.170 |
None |
0.857 |
7 |
|
2009 |
2016 |
Neonatal hypoglycemia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
55
|
13
|
0.100 |
None |
|
0 |
|
|
|