MCID: MTC034
MIFTS: 15

Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form malady

Genetic diseases, Rare diseases, Liver diseases categories

Summaries for Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form

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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

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Classifications:

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


Characteristics (Orphanet epidemiological data):

50
mitochondrial dna depletion syndrome, hepatocerebral form:
Inheritance: Autosomal recessive; Age of onset: Neonatal/infancy


Aliases & Descriptions:

mitochondrial dna depletion syndrome, hepatocerebral form 21 23 50
mtdna depletion syndrome, hepatocerebral form 50


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/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

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Drugs & Therapeutics for Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Genetic Tests for Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form

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21GeneTests, 23GTR
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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 Form21 23 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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Expression for genes affiliated with Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form

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

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Compounds 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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17Gene Ontology
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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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet