MCID: MTC034
MIFTS: 13

Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form malady

Categories: Genetic diseases (common), Liver diseases

Aliases & Classifications for Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form

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

Name: Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form 24 26

Classifications:



Summaries for Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form

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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).

Related Diseases for Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form

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

idRelated DiseaseScoreTop Affiliating Genes
1twnk-related mitochondrial dna depletion syndrome, hepatocerebral form12.3
2deoxyguanosine kinase deficiency11.5
3mitochondrial dna depletion syndrome 311.3
4mitochondrial neurogastrointestinal encephalopathy disease9.5DGUOK, MPV17
5mitochondrial dna depletion syndrome, myopathic form9.2DGUOK, MPV17

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



Diseases related to mitochondrial dna depletion syndrome, hepatocerebral form

Symptoms for Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form

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Drugs & Therapeutics for Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form

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Interventional clinical trials:

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

Genetic Tests for Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form

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

id Genetic test Affiliating Genes
1 Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form26 24 MPV17

Anatomical Context for Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form

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Animal Models for Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form or affiliated genes

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Publications for Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form

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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

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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)SNVLikely pathogenic, Pathogenicrs757075712GRCh38Chr 10, 58390856: 58390856

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

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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

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

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

idNameGO IDScoreTop Affiliating Genes
1mitochondrial matrixGO:00057599.3DGUOK, TFAM
2mitochondrionGO:00057398.5DGUOK, MPV17, TFAM

Sources for Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet