MCID: MTC034
MIFTS: 15

Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form malady

Genetic diseases, Rare diseases, Liver diseases categories
Download this MalaCard

Summaries for Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form

About this section
Sources:
33MalaCards
See all sources

Fully expand this MalaCard
MalaCards: Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form, also known as mtdna depletion syndrome, hepatocerebral form, is related to dguok-related mitochondrial dna depletion syndrome, hepatocerebral form and c10orf2-related mitochondrial dna depletion syndrome, hepatocerebral form. An important gene associated with Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form is MPV17 (MpV17 mitochondrial inner membrane protein).

Aliases & Classifications for Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form

About this section
Sources:
20GeneTests, 22GTR, 49Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Liver diseases


Characteristics (Orphanet epidemiological data):

49
mitochondrial dna depletion syndrome, hepatocerebral form:
Inheritance: Autosomal recessive; Age of onset: Neonatal/infancy


Aliases & Descriptions:

mitochondrial dna depletion syndrome, hepatocerebral form 20 22 49
mtdna depletion syndrome, hepatocerebral form 49


Related Diseases for Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

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

idRelated DiseaseScoreTop Affiliating Genes
1dguok-related mitochondrial dna depletion syndrome, hepatocerebral form10.8
2c10orf2-related mitochondrial dna depletion syndrome, hepatocerebral form10.6
3mitochondrial dna depletion syndrome10.6
4mitochondrial dna depletion syndrome 310.5

Symptoms for Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form

About this section

Drugs & Therapeutics for Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form

About this section
Sources:
42NIH Clinical Center, 6ClinicalTrials
See all sources

Drug clinical trials:

Search ClinicalTrials for Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form

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

Genetic Tests for Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form

About this section
Sources:
20GeneTests, 22GTR
See all sources

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

id Genetic test Affiliating Genes
1 Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form20 22 MPV17

Anatomical Context for Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form

About this section

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

About this section

Publications for Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form

About this section
Sources:
52PubMed
See all sources

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

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

About this section
Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form

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

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

About this section

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

About this section
Sources:
16Gene Ontology
See all sources

Cellular components related to Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mitochondrionGO:0057399.1DGUOK, MPV17

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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form

About this section
4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet