MCID: MTC034
MIFTS: 15

Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form malady

Categories: Genetic diseases (common), Liver diseases

Aliases & Classifications for Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form

About this section

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

Name: Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form 24 27

Classifications:



Summaries for Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form

About this section
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 is Mitochondrial Gene Expression.

Related Diseases for Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form

About this section

Graphical network of 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

About this section

Drugs & Therapeutics for Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form

About this section

Interventional clinical trials:

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

Genetic Tests for Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form

About this section

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

id Genetic test Affiliating Genes
1 Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form27 24 MPV17

Anatomical Context for Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form

About this section

Publications for Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form

About this section

Articles related to Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form:

idTitleAuthorsYear
1
DGUOK-Related Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form (20301766)
1993

Variations for Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form

About this section

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

5
id Gene Variation Type Significance SNP ID Assembly Location
1TFAMNM_ 003201.2(TFAM): c.533C> T (p.Pro178Leu)SNVPathogenic/ Likely pathogenicrs757075712GRCh38Chr 10, 58390856: 58390856

Expression for genes affiliated with Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form

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

Pathways for genes affiliated with Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form

About this section

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

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.1TFAM, TWNK

GO Terms for genes affiliated with Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form

About this section

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

idNameGO IDScoreTop Affiliating Genes
1mitochondrial nucleoidGO:00426459.9TFAM, TWNK
2mitochondrial matrixGO:00057599.2DGUOK, TFAM, TWNK
3mitochondrionGO:00057398.0DGUOK, MPV17, TFAM, TWNK

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

idNameGO IDScoreTop Affiliating Genes
1mitochondrion organizationGO:00070059.4TFAM, TWNK
2transcription from mitochondrial promoterGO:00063909.1TFAM, TWNK

Sources for Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet