MCID: MTC034
MIFTS: 15

Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form malady

Metabolic 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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20GeneTests, 22GTR, 48Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Metabolic diseases
Anatomical: Liver diseases


Characteristics (Orphanet epidemiological data):

48
mitochondrial dna depletion syndrome, hepatocerebral form:
Inheritance: Autosomal recessive; Age of onset: Neonatal/infancy


Aliases & Descriptions:

mitochondrial dna depletion syndrome, hepatocerebral form 20 22 48
mtdna depletion syndrome, hepatocerebral form 48


Related Diseases for Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form

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17GeneCards, 18GeneDecks
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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 syndrome 310.4
4myopathy10.0DGUOK
5chronic progressive external ophthalmoplegia10.0C10orf2
6neuropathy10.0C10orf2
7alpers syndrome10.0C10orf2, DGUOK
8mitochondrial disorders10.0C10orf2, DGUOK

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



Diseases related to mitochondrial dna depletion syndrome, hepatocerebral form

Clinical Features for Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form

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Drugs & Therapeutics for Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form

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20GeneTests, 22GTR
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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 Form20 22 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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Genetic 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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1BioGPS, 15Gene Expression Omnibus DataSets
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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

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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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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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet