MCID: MTC034
MIFTS: 15

Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form malady

Categories: Genetic diseases, Liver diseases

Aliases & Classifications for Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form

Aliases & Descriptions for Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form:

Name: Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form 24 29

Classifications:



Summaries for Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form

MalaCards based summary : Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form is related to twnk-related mitochondrial dna depletion syndrome, hepatocerebral form and deoxyguanosine kinase deficiency. An important gene associated with Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form is MPV17 (MPV17, Mitochondrial Inner Membrane Protein), and among its related pathways/superpathways is Mitochondrial Gene Expression.

Related Diseases for Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form

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

id Related Disease Score Top Affiliating Genes
1 twnk-related mitochondrial dna depletion syndrome, hepatocerebral form 12.3
2 deoxyguanosine kinase deficiency 11.5
3 mitochondrial dna depletion syndrome 3 11.3
4 myasthenia, congenital, 12, with tubular aggregates 9.9 DGUOK TWNK
5 epb42-related hereditary spherocytosis 9.8 DGUOK TFAM
6 bbs2-related bardet-biedl syndrome 9.8 TFAM TWNK
7 nkx2-1-related disorders 9.5 DGUOK TFAM TWNK
8 msx2-related craniosynostosis 9.4 DGUOK MPV17 TFAM TWNK

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



Diseases related to Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form

Symptoms & Phenotypes for Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form

Drugs & Therapeutics for Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form

Search Clinical Trials , NIH Clinical Center for Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form

Genetic Tests for Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form

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

id Genetic test Affiliating Genes
1 Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form 29 24 MPV17

Anatomical Context for Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form

Publications for Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form

Articles related to Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form:

id Title Authors Year
1
DGUOK-Related Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form ( 20301766 )
1993

Variations for Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form

ClinVar genetic disease variations for Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form:

6
id 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 Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form

Search GEO for disease gene expression data for Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form.

Pathways for Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form

Pathways related to Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
10.76 TFAM TWNK

GO Terms for Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form

Cellular components related to Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.26 DGUOK MPV17 TFAM TWNK
2 mitochondrial nucleoid GO:0042645 9.16 TFAM TWNK
3 mitochondrial matrix GO:0005759 8.8 DGUOK TFAM TWNK

Biological processes related to Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 mitochondrion organization GO:0007005 8.96 TFAM TWNK
2 transcription from mitochondrial promoter GO:0006390 8.62 TFAM TWNK

Sources for Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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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59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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