Pyruvate Dehydrogenase E3-Binding Protein Deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
1
|
8
|
0.700 |
None |
1.000 |
3 |
8
|
1997 |
2015 |
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE IV (disorder)
|
disease |
Nutritional and Metabolic Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
2
|
6
|
0.010 |
None |
1.000 |
1 |
|
2002 |
2002 |
Pyruvate Dehydrogenase E1 Alpha Deficiency
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
3
|
43
|
0.100 |
None |
|
0 |
1
|
|
|
Subependymal cysts
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
Disorder of endocrine pancreas
|
group |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
6
|
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Ovarian mucinous tumor
|
disease |
|
Neoplastic Process
|
11
|
1
|
0.010 |
None |
< 0.001 |
1 |
|
2008 |
2008 |
Nesidioblastosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
12
|
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
Congenital lactic acidosis
|
disease |
Nutritional and Metabolic Diseases
|
Congenital Abnormality
|
12
|
5
|
0.010 |
None |
1.000 |
1 |
1
|
2015 |
2015 |
Pyruvate Dehydrogenase Complex Deficiency Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
18
|
4
|
0.040 |
None |
1.000 |
4 |
|
2006 |
2016 |
Gross motor impairment
|
phenotype |
|
Finding
|
22
|
2
|
0.100 |
None |
|
0 |
|
|
|
Poor fine motor coordination
|
phenotype |
|
Finding
|
31
|
3
|
0.100 |
None |
|
0 |
|
|
|
Hyper-beta-alaninemia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
33
|
|
0.100 |
None |
|
0 |
|
|
|
Overweight or obesity
|
phenotype |
|
Disease or Syndrome
|
35
|
17
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Decreased activity of the pyruvate dehydrogenase complex
|
phenotype |
|
Finding
|
35
|
3
|
0.100 |
None |
|
0 |
|
|
|
Partial agenesis of corpus callosum
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
38
|
1
|
0.100 |
None |
|
0 |
|
|
|
POLYCYSTIC KIDNEY DISEASE 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
39
|
134
|
0.010 |
None |
1.000 |
1 |
|
1992 |
1992 |
Neonatal diabetes mellitus
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
42
|
33
|
0.010 |
None |
1.000 |
1 |
|
2003 |
2003 |
Abnormal ocular motility
|
phenotype |
|
Finding
|
45
|
6
|
0.100 |
None |
|
0 |
|
|
|
Increased serum pyruvate
|
phenotype |
|
Finding
|
45
|
1
|
0.100 |
None |
|
0 |
|
|
|
Trigonocephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
52
|
7
|
0.100 |
None |
|
0 |
|
|
|
Congenital Hyperinsulinism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
62
|
27
|
0.010 |
None |
1.000 |
1 |
|
2005 |
2005 |
Carcinoma, Pancreatic Ductal
|
disease |
Digestive System Diseases; Neoplasms; Endocrine System Diseases
|
Neoplastic Process
|
82
|
|
0.010 |
None |
1.000 |
1 |
|
2007 |
2007 |
Superinfection
|
group |
Infections
|
Disease or Syndrome
|
85
|
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Metabolic acidosis
|
phenotype |
Nutritional and Metabolic Diseases
|
Pathologic Function
|
85
|
|
0.100 |
None |
|
0 |
|
|
|
Spastic Quadriplegia
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
86
|
7
|
0.100 |
None |
|
0 |
|
|
|