MCID: MTC103
MIFTS: 13

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 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 deoxyguanosine kinase deficiency and mitochondrial dna depletion syndrome 3. 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:

# Related Disease Score Top Affiliating Genes
1 deoxyguanosine kinase deficiency 12.8
2 mitochondrial dna depletion syndrome 3 11.8
3 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 4 11.3
4 hemochromatosis, neonatal 10.0
5 mitochondrial myopathy 10.0
6 infantile liver failure syndrome 1 10.0
7 myopathy 10.0
8 mitochondrial dna depletion syndrome 10.0

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...

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:

# Title Authors Year
1
Deoxyguanosine kinase deficiency: a report of four patients. ( 28493820 )
2017
2
Long-term outcomes after liver transplantation for deoxyguanosine kinase deficiency: a single-center experience and a review of the literature. ( 24478274 )
2014
3
Neonatal liver failure due to deoxyguanosine kinase deficiency. ( 22602837 )
2012
4
Recessive deoxyguanosine kinase deficiency causes juvenile onset mitochondrial myopathy. ( 22622127 )
2012
5
Deoxyguanosine kinase deficiency presenting as neonatal hemochromatosis. ( 21478040 )
2011
6
Mitochondrial deoxyribonucleotide pools in deoxyguanosine kinase deficiency. ( 18723380 )
2008
7
Abnormal neurological features predict poor survival and should preclude liver transplantation in patients with deoxyguanosine kinase deficiency. ( 18825706 )
2008
8
Clinical, biochemical and morphological features of hepatocerebral syndrome with mitochondrial DNA depletion due to deoxyguanosine kinase deficiency. ( 15964659 )
2005

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 Assembly Location
1 DGUOK NM_080916.2(DGUOK): c.605_606delGA (p.Arg202Thrfs) deletion Pathogenic rs863223949 GRCh38 Chromosome 2, 73957138: 73957139
2 DGUOK NM_080916.2(DGUOK): c.605_606delGA (p.Arg202Thrfs) deletion Pathogenic rs863223949 GRCh37 Chromosome 2, 74184265: 74184266

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 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
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42 MedGen
44 MeSH
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46 MGI
49 NCI
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51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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