MCID: DXY001
MIFTS: 16

Deoxyguanosine Kinase Deficiency

Categories: Liver diseases

Aliases & Classifications for Deoxyguanosine Kinase Deficiency

MalaCards integrated aliases for Deoxyguanosine Kinase Deficiency:

Name: Deoxyguanosine Kinase Deficiency 24 25 73
Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form 25 29 6
Dguok-Related Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form 24
Hepatocerebral Mitochondrial Dna Depletion Syndrome 25
Dguok-Related Mitochondrial Dna Depletion Syndrome 25
Dguok Deficiency 24

Classifications:



External Ids:

UMLS 73 C3711385

Summaries for Deoxyguanosine Kinase Deficiency

Genetics Home Reference : 25 Deoxyguanosine kinase deficiency is an inherited disorder that can cause liver disease and neurological problems. Researchers have described two forms of this disorder. The majority of affected individuals have the more severe form, which is called hepatocerebral because of the serious problems it causes in the liver and brain.

MalaCards based summary : Deoxyguanosine Kinase Deficiency, also known as mitochondrial dna depletion syndrome, hepatocerebral form, is related to mpv17-related hepatocerebral mitochondrial dna depletion syndrome and mitochondrial dna depletion syndrome 3. An important gene associated with Deoxyguanosine Kinase Deficiency is DGUOK (Deoxyguanosine Kinase). Affiliated tissues include liver and brain.

GeneReviews: NBK7040

Related Diseases for Deoxyguanosine Kinase Deficiency

Diseases related to Deoxyguanosine Kinase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 mpv17-related hepatocerebral mitochondrial dna depletion syndrome 12.8
2 mitochondrial dna depletion syndrome 3 11.1
3 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 4 11.1
4 glycogen storage disease 10.1
5 hemochromatosis, neonatal 9.9
6 mitochondrial myopathy 9.9
7 infantile liver failure syndrome 1 9.9
8 myopathy 9.9

Graphical network of the top 20 diseases related to Deoxyguanosine Kinase Deficiency:



Diseases related to Deoxyguanosine Kinase Deficiency

Symptoms & Phenotypes for Deoxyguanosine Kinase Deficiency

Drugs & Therapeutics for Deoxyguanosine Kinase Deficiency

Search Clinical Trials , NIH Clinical Center for Deoxyguanosine Kinase Deficiency

Genetic Tests for Deoxyguanosine Kinase Deficiency

Genetic tests related to Deoxyguanosine Kinase Deficiency:

# Genetic test Affiliating Genes
1 Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form 29

Anatomical Context for Deoxyguanosine Kinase Deficiency

MalaCards organs/tissues related to Deoxyguanosine Kinase Deficiency:

41
Liver, Brain

Publications for Deoxyguanosine Kinase Deficiency

Articles related to Deoxyguanosine Kinase Deficiency:

(show all 11)
# Title Authors Year
1
Deoxyguanosine kinase deficiency: a report of four patients. ( 28493820 )
2017
2
Potentially diagnostic electron paramagnetic resonance spectra elucidate the underlying mechanism of mitochondrial dysfunction in the deoxyguanosine kinase deficient rat model of a genetic mitochondrial DNA depletion syndrome. ( 26773591 )
2016
3
Long-term outcomes after liver transplantation for deoxyguanosine kinase deficiency: a single-center experience and a review of the literature. ( 24478274 )
2014
4
Neonatal liver failure due to deoxyguanosine kinase deficiency. ( 22602837 )
2012
5
Recessive deoxyguanosine kinase deficiency causes juvenile onset mitochondrial myopathy. ( 22622127 )
2012
6
Deoxyguanosine kinase deficiency presenting as neonatal hemochromatosis. ( 21478040 )
2011
7
Mitochondrial deoxyribonucleotide pools in deoxyguanosine kinase deficiency. ( 18723380 )
2008
8
Abnormal neurological features predict poor survival and should preclude liver transplantation in patients with deoxyguanosine kinase deficiency. ( 18825706 )
2008
9
Clinical, biochemical and morphological features of hepatocerebral syndrome with mitochondrial DNA depletion due to deoxyguanosine kinase deficiency. ( 15964659 )
2005
10
Mitochondrial DNA depletion can be prevented by dGMP and dAMP supplementation in a resting culture of deoxyguanosine kinase-deficient fibroblasts. ( 12874104 )
2003
11
DGUOK-Related Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form ( 20301766 )
1993

Variations for Deoxyguanosine Kinase Deficiency

ClinVar genetic disease variations for Deoxyguanosine Kinase Deficiency:

6
(show all 26)
# Gene Variation Type Significance SNP ID Assembly Location
1 MPV17 NM_002437.4(MPV17): c.27G> T (p.Arg9=) single nucleotide variant Conflicting interpretations of pathogenicity rs35244252 GRCh37 Chromosome 2, 27545358: 27545358
2 MPV17 NM_002437.4(MPV17): c.27G> T (p.Arg9=) single nucleotide variant Conflicting interpretations of pathogenicity rs35244252 GRCh38 Chromosome 2, 27322491: 27322491
3 TFAM NM_003201.2(TFAM): c.533C> T (p.Pro178Leu) single nucleotide variant Likely pathogenic rs757075712 GRCh38 Chromosome 10, 58390856: 58390856
4 TFAM NM_003201.2(TFAM): c.533C> T (p.Pro178Leu) single nucleotide variant Likely pathogenic rs757075712 GRCh37 Chromosome 10, 60150616: 60150616
5 MPV17 NM_002437.4(MPV17): c.*130G> T single nucleotide variant Uncertain significance rs886055896 GRCh37 Chromosome 2, 27532650: 27532650
6 MPV17 NM_002437.4(MPV17): c.*130G> T single nucleotide variant Uncertain significance rs886055896 GRCh38 Chromosome 2, 27309782: 27309782
7 MPV17 NM_002437.4(MPV17): c.373C> T (p.Arg125Trp) single nucleotide variant Uncertain significance rs112170670 GRCh37 Chromosome 2, 27535363: 27535363
8 MPV17 NM_002437.4(MPV17): c.373C> T (p.Arg125Trp) single nucleotide variant Uncertain significance rs112170670 GRCh38 Chromosome 2, 27312496: 27312496
9 MPV17 NM_002437.4(MPV17): c.*360G> C single nucleotide variant Uncertain significance rs866206271 GRCh37 Chromosome 2, 27532420: 27532420
10 MPV17 NM_002437.4(MPV17): c.*360G> C single nucleotide variant Uncertain significance rs866206271 GRCh38 Chromosome 2, 27309552: 27309552
11 MPV17 NM_002437.4(MPV17): c.*347C> T single nucleotide variant Uncertain significance rs144697795 GRCh37 Chromosome 2, 27532433: 27532433
12 MPV17 NM_002437.4(MPV17): c.*347C> T single nucleotide variant Uncertain significance rs144697795 GRCh38 Chromosome 2, 27309565: 27309565
13 MPV17 NM_002437.4(MPV17): c.*80C> T single nucleotide variant Uncertain significance rs200529035 GRCh37 Chromosome 2, 27532700: 27532700
14 MPV17 NM_002437.4(MPV17): c.*80C> T single nucleotide variant Uncertain significance rs200529035 GRCh38 Chromosome 2, 27309832: 27309832
15 MPV17 NM_002437.4(MPV17): c.164T> C (p.Val55Ala) single nucleotide variant Uncertain significance rs575558175 GRCh37 Chromosome 2, 27535883: 27535883
16 MPV17 NM_002437.4(MPV17): c.164T> C (p.Val55Ala) single nucleotide variant Uncertain significance rs575558175 GRCh38 Chromosome 2, 27313016: 27313016
17 MPV17 NM_002437.4(MPV17): c.-11G> C single nucleotide variant Uncertain significance rs886055898 GRCh37 Chromosome 2, 27545924: 27545924
18 MPV17 NM_002437.4(MPV17): c.-11G> C single nucleotide variant Uncertain significance rs886055898 GRCh38 Chromosome 2, 27323057: 27323057
19 MPV17 NM_002437.4(MPV17): c.*413A> C single nucleotide variant Uncertain significance rs575276701 GRCh37 Chromosome 2, 27532367: 27532367
20 MPV17 NM_002437.4(MPV17): c.*413A> C single nucleotide variant Uncertain significance rs575276701 GRCh38 Chromosome 2, 27309499: 27309499
21 MPV17 NM_002437.4(MPV17): c.*194G> A single nucleotide variant Uncertain significance rs886055895 GRCh37 Chromosome 2, 27532586: 27532586
22 MPV17 NM_002437.4(MPV17): c.*194G> A single nucleotide variant Uncertain significance rs886055895 GRCh38 Chromosome 2, 27309718: 27309718
23 MPV17 NM_002437.4(MPV17): c.*34G> A single nucleotide variant Uncertain significance rs147885371 GRCh37 Chromosome 2, 27532746: 27532746
24 MPV17 NM_002437.4(MPV17): c.*34G> A single nucleotide variant Uncertain significance rs147885371 GRCh38 Chromosome 2, 27309878: 27309878
25 MPV17 NM_002437.4(MPV17): c.-6+8G> A single nucleotide variant Uncertain significance rs886055897 GRCh37 Chromosome 2, 27545911: 27545911
26 MPV17 NM_002437.4(MPV17): c.-6+8G> A single nucleotide variant Uncertain significance rs886055897 GRCh38 Chromosome 2, 27323044: 27323044

Expression for Deoxyguanosine Kinase Deficiency

Search GEO for disease gene expression data for Deoxyguanosine Kinase Deficiency.

Pathways for Deoxyguanosine Kinase Deficiency

GO Terms for Deoxyguanosine Kinase Deficiency

Sources for Deoxyguanosine Kinase Deficiency

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10 dbSNP
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17 ExPASy
19 FMA
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69 SNOMED-CT via HPO
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71 TGDB
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74 UMLS via Orphanet
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