Mitochondrial Complex V Deficiency 2
MC5DN2

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We were unfortunately unable to download the information for this disease from OMIM.



Prevalence of clinical parameters (%)







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Pubmed id number as a reference Organ system affected
Number of patients in the reference Percent affected patients (Between 0 and 1, eg. 0.1 = 10%)
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List of symptoms



Symptom/sign Organ system Percent affected Pubmed id Added on(yyyy-mm-dd) Edit/add reference
Failure to thrive multi 100 % 20335238 2014-10-28
3-methylglutaconic aciduria urinary 100 % 20335238 2014-10-28
Hypotonia nervous 96 % 20335238 2014-10-28
Apnea respiratory 92 % 20335238 2014-10-28
Lactate accumulation circulatory 92 % 20335238 2014-10-28
Psychomotor retardation nervous 87 % 20335238 2014-10-28
Hyperammonemia circulatory 86 % 20335238 2014-10-28
Hypertrophic cardiomyopathy circulatory 76 % 20335238 2014-10-28
Facial dysmorphism skeletal 67 % 20335238 2014-10-28
Cryptorchidism reproductive 67 % 20335238 2014-10-28
Microcephaly nervous 59 % 20335238 2014-10-28
Ataxia nervous 58 % 20335238 2014-10-28
Hepatomegaly digestive 58 % 20335238 2014-10-28
Hypospadia urinary 54 % 20335238 2014-10-28
Strabismus nervous 36 % 20335238 2014-10-28
Extrapyramidal symptoms nervous 25 % 20335238 2014-10-28
Ptosis nervous 15 % 20335238 2014-10-28



List of references:


Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation.
Tomás Honzík, Markéta Tesarová, Johannes A Mayr, Hana Hansíková, Pavel Jesina, Olaf Bodamer, Johannes Koch, Martin Magner, Peter Freisinger, Martina Huemer, Olga Kostková, Rudy van Coster, Stanislav Kmoch, Josef Houstêk, Wolfgang Sperl, Jirí Zeman,

Mitochondrial disturbances of energygenerating systems in childhood are a heterogeneous group of disorders. The aim of this multi-site survey was to characterise the natural course of a novel mitochondrial disease with ATP synthase deficiency and mutation in the TMEM70 gene.

Archives of disease in childhood - Apr 2010