Deoxyguanosine kinase deficiency |
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Prevalence (%) of clinical parameters based on data from 5 references describing 33 individuals
Add new symptom/sign to this disease
| 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%) | ||
| Please provide your name and contact information as a reference | |||
| Name | Institute | Phone number | Email address |
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:
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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