MCID: MTC103
MIFTS: 14

Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form Due to Dguok Deficiency

Categories: Liver diseases, Rare diseases

Aliases & Classifications for Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form Due to...

MalaCards integrated aliases for Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form Due to Dguok Deficiency:

Name: Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form Due to Dguok Deficiency 53 29 6
Dguok-Related Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form 53
Mitochondrial Dna Depletion Syndrome 3 53
Deoxyguanosine Kinase Deficiency 53
Dguok Deficiency 53

Classifications:



Summaries for Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form Due to...

MalaCards based summary : Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form Due to Dguok Deficiency, also known as dguok-related mitochondrial dna depletion syndrome, hepatocerebral form, is related to mitochondrial dna depletion syndrome 3 and progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 4. An important gene associated with Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form Due to Dguok Deficiency is DGUOK (Deoxyguanosine Kinase). Affiliated tissues include liver.

Related Diseases for Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form Due to...

Diseases related to Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form Due to Dguok Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 17)
# Related Disease Score Top Affiliating Genes
1 mitochondrial dna depletion syndrome 3 11.9
2 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 4 11.5
3 pathologic nystagmus 10.3
4 cholestasis 10.2
5 hypotonia 10.2
6 mitochondrial dna depletion syndrome 10.2
7 hypoglycemia 10.1
8 acute liver failure 10.1
9 hemochromatosis, neonatal 9.9
10 hemochromatosis, type 1 9.9
11 siderosis 9.9
12 lactic acidosis 9.9
13 myopathy 9.9
14 mitochondrial myopathy 9.9
15 tyrosinemia 9.9
16 mitochondrial disorders 9.9
17 aminoaciduria 9.9

Graphical network of the top 20 diseases related to Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form Due to Dguok Deficiency:



Diseases related to Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form Due to Dguok Deficiency

Symptoms & Phenotypes for Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form Due to...

Drugs & Therapeutics for Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form Due to...

Search Clinical Trials , NIH Clinical Center for Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form Due to Dguok Deficiency

Genetic Tests for Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form Due to...

Genetic tests related to Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form Due to Dguok Deficiency:

# Genetic test Affiliating Genes
1 Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form Due to Dguok Deficiency 29

Anatomical Context for Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form Due to...

MalaCards organs/tissues related to Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form Due to Dguok Deficiency:

41
Liver

Publications for Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form Due to...

Articles related to Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form Due to Dguok Deficiency:

(show all 12)
# Title Authors PMID Year
1
Severe mtDNA depletion and dependency on catabolic lipid metabolism in DGUOK knockout mice. 38
31127938 2019
2
Severe DGUOK Deficiency in Austria: A Six-Patient Series. 38
30234759 2018
3
Deoxyguanosine kinase deficiency: a report of four patients. 38
28493820 2017
4
Recurrent recessive mutation in deoxyguanosine kinase causes idiopathic noncirrhotic portal hypertension. 38
26874653 2016
5
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. 38
26773591 2016
6
Long-term outcomes after liver transplantation for deoxyguanosine kinase deficiency: a single-center experience and a review of the literature. 38
24478274 2014
7
Two patients with hepatic mtDNA depletion syndromes and marked elevations of S-adenosylmethionine and methionine. 38
22137549 2012
8
A novel c.592-4_c.592-3delTT mutation in DGUOK gene causes exon skipping. 38
19900589 2010
9
Deoxyguanosine Kinase Deficiency 38
20301766 2009
10
In vitro supplementation with dAMP/dGMP leads to partial restoration of mtDNA levels in mitochondrial depletion syndromes. 38
19221117 2009
11
Abnormal neurological features predict poor survival and should preclude liver transplantation in patients with deoxyguanosine kinase deficiency. 38
18825706 2008
12
Depletion of mitochondrial DNA by down-regulation of deoxyguanosine kinase expression in non-proliferating HeLa cells. 38
17490647 2007

Variations for Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form Due to...

ClinVar genetic disease variations for Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form Due to Dguok Deficiency:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 DGUOK NM_080916.3(DGUOK): c.603_604GA[1] (p.Arg202fs) short repeat Pathogenic rs863223949 2:74184265-74184266 2:73957138-73957139

Expression for Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form Due to...

Search GEO for disease gene expression data for Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form Due to Dguok Deficiency.

Pathways for Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form Due to...

GO Terms for Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form Due to...

Sources for Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form Due to...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....