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 23 24 69
Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form 24 28
Dguok-Related Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form 23
Hepatocerebral Mitochondrial Dna Depletion Syndrome 24
Dguok-Related Mitochondrial Dna Depletion Syndrome 24
Dguok Deficiency 23

Classifications:



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UMLS 69 C3711385

Summaries for Deoxyguanosine Kinase Deficiency

Genetics Home Reference : 24 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 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 4. 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

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 28

Anatomical Context for Deoxyguanosine Kinase Deficiency

MalaCards organs/tissues related to Deoxyguanosine Kinase Deficiency:

38
Liver, Brain

Publications for Deoxyguanosine Kinase Deficiency

Articles related to Deoxyguanosine Kinase Deficiency:

# 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
Recessive deoxyguanosine kinase deficiency causes juvenile onset mitochondrial myopathy. ( 22622127 )
2012
5
Neonatal liver failure due to deoxyguanosine kinase deficiency. ( 22602837 )
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

Variations for Deoxyguanosine Kinase Deficiency

ClinVar genetic disease variations for Deoxyguanosine Kinase Deficiency:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TFAM NM_003201.2(TFAM): c.533C> T (p.Pro178Leu) single nucleotide variant Pathogenic/Likely pathogenic rs757075712 GRCh38 Chromosome 10, 58390856: 58390856

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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