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Prevalence (%) of clinical parameters based on data from 2 references describing 40 individuals
Add new symptom/sign to this disease
List of symptoms
Symptom/sign |
Organ system |
Percent affected |
Pubmed id |
Added on(yyyy-mm-dd) |
Edit/add reference |
Nephropathy |
urinary |
100 % |
17855635 |
2011-10-18 |
|
Ataxia |
nervous |
72 % |
17442627 |
2011-10-11 |
|
Cerebellar atrophy |
nervous |
61 % |
17442627 |
2011-10-11 |
|
Seizures |
nervous |
50 % |
17855635 |
2011-10-11 |
|
Muscle weakness |
skeletal |
44 % |
17442627 |
2011-10-11 |
|
Lactate accumulation |
circulatory |
42 % |
17442627 |
2011-10-11 |
|
Developmental delay |
multi |
39 % |
17442627 |
2011-10-11 |
|
Seizures |
nervous |
39 % |
17442627 |
2011-10-11 |
|
Myopathy |
skeletal |
33 % |
17442627 |
2011-10-11 |
|
Hypotonia |
nervous |
25 % |
17855635 |
2011-10-11 |
|
Neuropathy |
nervous |
25 % |
17855635 |
2011-10-11 |
|
Mental retardation |
nervous |
25 % |
17442627 |
2011-10-11 |
|
Increased blood CK |
circulatory |
22 % |
17442627 |
2011-10-11 |
|
Hearing loss |
nervous |
17 % |
17442627 |
2011-10-11 |
|
Short stature |
multi |
14 % |
17442627 |
2011-10-11 |
|
Hypotonia |
nervous |
14 % |
17442627 |
2011-10-11 |
|
Nephropathy |
urinary |
14 % |
17442627 |
2011-10-11 |
|
Myoglobinuria |
circulatory |
11 % |
17442627 |
2011-10-11 |
|
Ptosis |
nervous |
8 % |
17442627 |
2011-10-11 |
|
Cerebral atrophy |
nervous |
8 % |
17442627 |
2011-10-11 |
|
Scoliosis |
skeletal |
8 % |
17442627 |
2011-10-11 |
|
Retinitis pigmentosa |
nervous |
8 % |
17442627 |
2011-10-11 |
|
Dystonia |
nervous |
8 % |
17442627 |
2011-10-11 |
|
Nystagmus |
nervous |
8 % |
17442627 |
2011-10-11 |
|
Vomiting |
digestive |
6 % |
17442627 |
2011-10-11 |
|
Failure to thrive |
multi |
6 % |
17442627 |
2011-10-11 |
|
Myopia |
nervous |
6 % |
17442627 |
2011-10-11 |
|
Optic atrophy |
nervous |
6 % |
17442627 |
2011-10-11 |
|
Cardiomyopathy |
circulatory |
6 % |
17442627 |
2011-10-11 |
|
Exercise intolerance |
skeletal |
6 % |
17442627 |
2011-10-11 |
|
Headache |
nervous |
3 % |
17442627 |
2011-10-11 |
|
Diarrhea |
digestive |
3 % |
17442627 |
2011-10-11 |
|
Cataract |
nervous |
3 % |
17442627 |
2011-10-11 |
|
Tubulopathy |
urinary |
3 % |
17442627 |
2011-10-11 |
|
Pancreatic insufficiency |
digestive |
3 % |
17442627 |
2011-10-11 |
|
Dysphagia |
digestive |
3 % |
17442627 |
2011-10-11 |
|
Chorea |
nervous |
3 % |
17442627 |
2011-10-11 |
|
Dysarthria |
nervous |
3 % |
17442627 |
2011-10-11 |
|
Jaundice |
digestive |
3 % |
17442627 |
2011-10-13 |
|
List of references:
COQ2 nephropathy: a newly described inherited mitochondriopathy with primary renal involvement. Francesca Diomedi-Camassei, Silvia Di Giandomenico, Filippo M Santorelli, Gianluca Caridi, Fiorella Piemonte, Giovanni Montini, Gian Marco Ghiggeri, Luisa Murer, Laura Barisoni, Anna Pastore, Andrea Onetti Muda, Maria Luisa Valente, Enrico Bertini, Francesco Emma,
Journal of the American Society of Nephrology : JASN - Oct 2007
Infantile and pediatric quinone deficiency diseases. Agnès Rötig, Julie Mollet, Marlène Rio, Arnold Munnich,
Mitochondrion - Jun 2007
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