MCID: MTC103
MIFTS: 10

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 54 6
Dguok-Related Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form 54
Mitochondrial Dna Depletion Syndrome 3 54
Deoxyguanosine Kinase Deficiency 54
Dguok Deficiency 54

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).

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 infantile liver failure syndrome 1 10.0
6 myopathy 10.0
7 mitochondrial 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...

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
DGUOK-Related Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form ( 20301766 )
1993

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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
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63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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