Deoxyguanosine kinase deficiency
DGUOK deficiency

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Prevalence (%) of clinical parameters based on data from 5 references describing 33 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
Hepatomegaly digestive 100 % 12210798 2011-10-18
Liver failure digestive 100 % 11687800 2011-10-04
Lactate accumulation circulatory 100 % 12210798 2011-10-04
Jaundice digestive 100 % 12210798 2011-10-12
Nystagmus nervous 100 % 12210798 2011-10-04
Hypoglycemia endocrine 100 % 12210798 2011-10-04
Liver failure digestive 100 % 15887277 2011-10-04
Cystathioninuria circulatory 100 % 15887277 2011-10-12
Hepatopathy digestive 83 % 16908739 2011-10-12
Lactate accumulation circulatory 83 % 16908739 2011-10-12
Lactate accumulation circulatory 67 % 12205643 2011-10-12
Coagulopathy digestive 67 % 16908739 2011-10-12
Hepatomegaly digestive 66 % 12205643 2011-10-12
Failure to thrive multi 50 % 16908739 2011-10-12
Nystagmus nervous 50 % 16908739 2011-10-12
Hypotonia nervous 50 % 16908739 2011-10-12
Nystagmus nervous 33 % 12205643 2011-10-12
Hypotonia nervous 33 % 12205643 2011-10-12
Jaundice digestive 33 % 16908739 2011-10-12
Cholestasis digestive 17 % 16908739 2011-10-12
Cardiac conduction defect circulatory 17 % 16908739 2011-10-12
Cancer digestive 17 % 16908739 2011-10-12
Muscle weakness skeletal 17 % 16908739 2011-10-12
Developmental delay multi 17 % 16908739 2011-10-12
Vomiting digestive 17 % 16908739 2011-10-12
Hearing loss nervous 17 % 16908739 2011-10-12



List of references:


A novel mutation in the deoxyguanosine kinase gene causing depletion of mitochondrial DNA.
Jan-Willem Taanman, Ihab Kateeb, Ania C Muntau, Michaela Jaksch, Nadine Cohen, Hanna Mandel,



Annals of neurology - Aug 2002



The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA.
H Mandel, R Szargel, V Labay, O Elpeleg, A Saada, A Shalata, Y Anbinder, D Berkowitz, C Hartman, M Barak, S Eriksson, N Cohen,



Nature genetics - Nov 2001



Novel mutation in DGUOK in hepatocerebral mitochondrial DNA depletion syndrome associated with cystathioninuria.
Venu T Tadiboyina, Anthony Rupar, Paul Atkison, Annette Feigenbaum, Jonathan Kronick, Jian Wang, Robert A Hegele,



American journal of medical genetics. Part A - Jun 2005



Hepatocerebral mitochondrial DNA depletion syndrome caused by deoxyguanosine kinase (DGUOK) mutations.
Peter Freisinger, Nancy Fütterer, Erwin Lankes, Klaus Gempel, Thomas M Berger, Johannes Spalinger, Alexandra Hoerbe, Claudia Schwantes, Martin Lindner, René Santer, Martin Burdelski, Hansjörg Schaefer, Bernhard Setzer, Ulrich A Walker, Rita Horváth,



Archives of neurology - Aug 2006



Mitochondrial DNA depletion and dGK gene mutations.
Leonardo Salviati, Sabrina Sacconi, Michelangelo Mancuso, David Otaegui, Pilar Camaño, Alberto Marina, Simon Rabinowitz, Rebecca Shiffman, Karen Thompson, Claire M Wilson, Annette Feigenbaum, Ali B Naini, Michio Hirano, Eduardo Bonilla, Salvatore DiMauro, Tuan H Vu,



Annals of neurology - Sep 2002