Encephalomyopathy with renal tubulopathy

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Prevalence (%) of clinical parameters based on data from 2 references describing 5 individuals

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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 % 19138848 2011-10-19
Lactate accumulation circulatory 100 % 17486094 2011-10-06
Feeding difficulties multi 100 % 19138848 2011-10-06
Hypotonia nervous 100 % 19138848 2011-10-10
Death in the first months of life multi 100 % 17486094 2011-10-06
Lactate accumulation circulatory 100 % 19138848 2011-10-06
Hypotonia nervous 100 % 17486094 2011-10-10
Tubulopathy urinary 50 % 19138848 2011-10-13

List of references:

A novel homozygous RRM2B missense mutation in association with severe mtDNA depletion.
Gittan Kollberg, Niklas Darin, Karin Benan, Ali-Reza Moslemi, Sigurd Lindal, Már Tulinius, Anders Oldfors, Elisabeth Holme,

Neuromuscular disorders : NMD - Feb 2009

Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion.
Alice Bourdon, Limor Minai, Valérie Serre, Jean-Philippe Jais, Emmanuelle Sarzi, Sophie Aubert, Dominique Chrétien, Pascale de Lonlay, Véronique Paquis-Flucklinger, Hirofumi Arakawa, Yusuke Nakamura, Arnold Munnich, Agnès Rötig,

Nature genetics - Jun 2007