Mitochondrial Dna Depletion Syndrome 6 (MTDPS6)

Alias:
Navajo Neurohepatopathy
Navajo Neuropathy
Navajo Familial Neurogenic Arthropathy
Mtdps6
Nnh
Mpv17-Related Hepatocerebral Mitochondrial Dna Depletion Syndrome
Nn
Mitochondrial Dna Depletion 6 Hepatocerebral Type
Mitochondrial Dna Depletion Syndrome , Type 6
Mpv17-Associated Hepatocerebral Mds
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Mitochondrial Dna Depletion Syndrome 6, also known as navajo neurohepatopathy, is related to lactic acidosis and mitochondrial dna depletion syndrome 3, and has symptoms including ataxia, diarrhea and vomiting. An important gene associated with Mitochondrial Dna Depletion Syndrome 6 is MPV17 (Mitochondrial Inner Membrane Protein MPV17), and among its related pathways/superpathways are Pyrimidine metabolism and related diseases and Valproic Acid Pathway, Pharmacodynamics. Affiliated tissues include liver and eye, and related phenotypes are decreased activity of mitochondrial complex i and decreased number of peripheral myelinated nerve fibers
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Infant
<1/1000000
21
116
27

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
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IF
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