Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
1
|
|
0.610 |
definitive |
1.000 |
10 |
|
2002 |
2016 |
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20
|
disease |
|
Disease or Syndrome
|
2
|
15
|
0.600 |
None |
1.000 |
15 |
15
|
2007 |
2018 |
Cerebellar hemorrhage
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases
|
Pathologic Function
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Elevated plasma acylcarnitine levels
|
phenotype |
|
Finding
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
Elevated creatine kinase after exercise
|
phenotype |
|
Finding
|
7
|
|
0.100 |
None |
|
0 |
|
|
|
Dicarboxylic aciduria
|
phenotype |
|
Finding
|
8
|
|
0.100 |
None |
|
0 |
|
|
|
Microvesicular hepatic steatosis
|
phenotype |
Digestive System Diseases
|
Finding
|
11
|
|
0.100 |
None |
|
0 |
|
|
|
Nonketotic hypoglycemia
|
phenotype |
Nutritional and Metabolic Diseases
|
Finding
|
11
|
|
0.100 |
None |
|
0 |
|
|
|
Carnitine deficiency
|
phenotype |
|
Finding
|
15
|
1
|
0.100 |
None |
|
0 |
|
|
|
Cerebral Edema
|
phenotype |
Nervous System Diseases
|
Pathologic Function
|
26
|
|
0.100 |
None |
|
0 |
|
|
|
Increased lactate dehydrogenase activity
|
phenotype |
|
Finding
|
27
|
|
0.100 |
None |
|
0 |
|
|
|
Prothrombin time increased
|
phenotype |
Hemic and Lymphatic Diseases
|
Finding
|
30
|
|
0.100 |
None |
|
0 |
|
|
|
Myasthenias
|
disease |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
41
|
3
|
0.100 |
None |
|
0 |
|
|
|
Decreased activity of mitochondrial complex I
|
phenotype |
|
Finding
|
41
|
3
|
0.100 |
None |
|
0 |
|
|
|
Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency
|
disease |
|
Disease or Syndrome
|
51
|
4
|
0.090 |
None |
1.000 |
9 |
|
2011 |
2019 |
Mitochondrial Encephalomyopathies
|
disease |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
53
|
11
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Ventricular hypertrophy
|
disease |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Disease or Syndrome
|
60
|
9
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Impaired exercise tolerance
|
phenotype |
|
Finding
|
76
|
7
|
0.100 |
None |
|
0 |
|
|
|
Hyperammonemia
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
102
|
8
|
0.100 |
None |
|
0 |
|
|
|
EMG: myopathic abnormalities
|
phenotype |
Musculoskeletal Diseases; Nervous System Diseases
|
Pathologic Function
|
115
|
16
|
0.100 |
None |
|
0 |
|
|
|
Generalized Muscle Weakness, CTCAE
|
phenotype |
|
Finding
|
117
|
|
0.100 |
None |
|
0 |
|
|
|
Generalized muscle weakness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Sign or Symptom
|
126
|
4
|
0.100 |
None |
|
0 |
|
|
|
Sudden Cardiac Death
|
phenotype |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Pathologic Function
|
133
|
40
|
0.100 |
None |
|
0 |
|
|
|
Nausea
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
161
|
14
|
0.010 |
None |
1.000 |
1 |
2
|
2017 |
2017 |
Increased serum lactate
|
phenotype |
Nutritional and Metabolic Diseases
|
Finding
|
169
|
2
|
0.100 |
None |
|
0 |
|
|
|