MCID: MPV002
MIFTS: 18

Mpv17-Related Mitochondrial Dna Maintenance Defect

Categories: Liver diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Mpv17-Related Mitochondrial Dna Maintenance Defect

MalaCards integrated aliases for Mpv17-Related Mitochondrial Dna Maintenance Defect:

Name: Mpv17-Related Mitochondrial Dna Maintenance Defect 25 6
Mitochondrial Dna Depletion Syndrome 6 , Hepatocerebral Type 25
Mpv17 Hepatocerebral Mitochondrial Dna Depletion Syndrome 25
Navajo Neurohepatopathy 70
Mpv17 Deficiency 25

Classifications:



External Ids:

UMLS 70 C1850406

Summaries for Mpv17-Related Mitochondrial Dna Maintenance Defect

MalaCards based summary : Mpv17-Related Mitochondrial Dna Maintenance Defect, also known as mitochondrial dna depletion syndrome 6 , hepatocerebral type, is related to myopathy and peripheral nervous system disease, and has symptoms including ataxia, vomiting and diarrhea. An important gene associated with Mpv17-Related Mitochondrial Dna Maintenance Defect is MPV17 (Mitochondrial Inner Membrane Protein MPV17). Affiliated tissues include liver.

GeneReviews: NBK92947

Related Diseases for Mpv17-Related Mitochondrial Dna Maintenance Defect

Diseases in the Mitochondrial Dna Maintenance Defects family:

Mpv17-Related Mitochondrial Dna Maintenance Defect

Diseases related to Mpv17-Related Mitochondrial Dna Maintenance Defect via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 16)
# Related Disease Score Top Affiliating Genes
1 myopathy 10.4
2 peripheral nervous system disease 10.4
3 neuropathy 10.4
4 mitochondrial dna depletion syndrome 6 10.3
5 pediatric hepatocellular carcinoma 10.3
6 mitochondrial dna depletion syndrome 10.3
7 non-alcoholic fatty liver disease 10.3
8 microcephaly 10.3
9 hypoparathyroidism 10.3
10 nephrocalcinosis 10.3
11 cholestasis 10.3
12 sensory peripheral neuropathy 10.3
13 lactic acidosis 10.3
14 liver disease 10.3
15 hypoglycemia 10.3
16 hypotonia 10.3

Graphical network of the top 20 diseases related to Mpv17-Related Mitochondrial Dna Maintenance Defect:



Diseases related to Mpv17-Related Mitochondrial Dna Maintenance Defect

Symptoms & Phenotypes for Mpv17-Related Mitochondrial Dna Maintenance Defect

UMLS symptoms related to Mpv17-Related Mitochondrial Dna Maintenance Defect:


ataxia; vomiting; diarrhea

Drugs & Therapeutics for Mpv17-Related Mitochondrial Dna Maintenance Defect

Search Clinical Trials , NIH Clinical Center for Mpv17-Related Mitochondrial Dna Maintenance Defect

Genetic Tests for Mpv17-Related Mitochondrial Dna Maintenance Defect

Anatomical Context for Mpv17-Related Mitochondrial Dna Maintenance Defect

MalaCards organs/tissues related to Mpv17-Related Mitochondrial Dna Maintenance Defect:

40
Liver

Publications for Mpv17-Related Mitochondrial Dna Maintenance Defect

Articles related to Mpv17-Related Mitochondrial Dna Maintenance Defect:

(show all 37)
# Title Authors PMID Year
1
MPV17-related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects. 25 61
29282788 2018
2
Navajo Neurohepatopathy : A Case Report and Literature Review Emphasizing Clinicopathologic Diagnosis. 61 25
28209105 2016
3
A novel homozygous MPV17 mutation in two families with axonal sensorimotor polyneuropathy. 25 61
26437932 2015
4
MPV17-associated hepatocerebral mitochondrial DNA depletion syndrome: new patients and novel mutations. 61 25
20074988 2010
5
Navajo neurohepatopathy is caused by a mutation in the MPV17 gene. 25 61
16909392 2006
6
Incidence of Primary Mitochondrial Disease in Children Younger Than 2 Years Presenting With Acute Liver Failure. 25
27482763 2016
7
MPV17 mutations in patients with hepatocerebral mitochondrial DNA depletion syndrome. 25
27536553 2016
8
MPV17 Loss Causes Deoxynucleotide Insufficiency and Slow DNA Replication in Mitochondria. 25
26760297 2016
9
The role of the Mpv17 protein mutations of which cause mitochondrial DNA depletion syndrome (MDDS): lessons from homologs in different species. 25
25205723 2015
10
Individual exome analysis in diagnosis and management of paediatric liver failure of indeterminate aetiology. 25
25016221 2014
11
Mitochondrial DNA depletion syndrome causing liver failure. 25
25129007 2014
12
Novel c.191C>G (p.Pro64Arg) MPV17 mutation identified in two pairs of unrelated Polish siblings with mitochondrial hepatoencephalopathy. 25
23829229 2014
13
A novel MPV17 gene mutation in a Saudi infant causing fatal progressive liver failure. 25
24894789 2014
14
Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene. 25
23714749 2014
15
Adult-Onset Fatal Neurohepatopathy in a Woman Caused by MPV17 Mutation. 25
24190800 2014
16
MPV17: fatal hepatocerebral presentation in a Brazilian infant. 25
23137571 2012
17
MPV17 Mutations Causing Adult-Onset Multisystemic Disorder With Multiple Mitochondrial DNA Deletions. 25
22964873 2012
18
Hepatocerebral form of mitochondrial DNA depletion syndrome due to mutation in MPV17 gene. 25
22824774 2012
19
MPV17 mutation causes neuropathy and leukoencephalopathy with multiple mtDNA deletions in muscle. 25
22508010 2012
20
MR imaging findings in the reticular formation in siblings with MPV17-related mitochondrial depletion syndrome. 25
21511859 2012
21
The phosphorescence oxygen analyzer as a screening tool for disorders with impaired lymphocyte bioenergetics. 25
21996136 2011
22
Fluctuating liver functions in siblings with MPV17 mutations and possible improvement associated with dietary and pharmaceutical treatments targeting respiratory chain complex II. 25
19520594 2009
23
Glucose metabolism and diet-based prevention of liver dysfunction in MPV17 mutant patients. 25
19012992 2009
24
Hepatocerebral form of mitochondrial DNA depletion syndrome: novel MPV17 mutations. 25
18695062 2008
25
Lethal hepatopathy and leukodystrophy caused by a novel mutation in MPV17 gene: description of an alternative MPV17 spliced form. 25
18329934 2008
26
Mutations in the MPV17 gene are responsible for rapidly progressive liver failure in infancy. 25
17694548 2007
27
MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion. 25
16582910 2006
28
Hepatocellular neoplasms arising in genetic metabolic disorders: steatosis is common in both the tumor and background liver. 61
33245984 2021
29
MPV17 mutations in juvenile- and adult-onset axonal sensorimotor polyneuropathy. 61
30298599 2019
30
MPV17-related hepatocerebral mitochondrial DNA depletion syndrome (MPV17-NNH) revisited. 61
29473055 2016
31
MPV17-Related Mitochondrial DNA Maintenance Defect 61
22593919 2012
32
Mitochondrial syndromes with leukoencephalopathies. 61
22422207 2012
33
Hand involvement in Navajo neurohepatopathy: a case report. 61
22654708 2011
34
Lack of founder effect for an identical mtDNA depletion syndrome (MDS)-associated MPV17 mutation shared by Navajos and Italians. 61
18261905 2008
35
Hepatobiliary pathology. 61
17033299 2002
36
Navajo neurohepatopathy: a mitochondrial DNA depletion syndrome? 61
11431741 2001
37
Liver disease in Navajo neuropathy. 61
10518083 1999

Variations for Mpv17-Related Mitochondrial Dna Maintenance Defect

ClinVar genetic disease variations for Mpv17-Related Mitochondrial Dna Maintenance Defect:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MPV17 NM_002437.5(MPV17):c.206G>A (p.Trp69Ter) SNV Pathogenic 38348 rs267607261 GRCh37: 2:27535620-27535620
GRCh38: 2:27312753-27312753
2 MPV17 NM_002437.5(MPV17):c.376-9T>G SNV Likely pathogenic 593343 rs368900406 GRCh37: 2:27535123-27535123
GRCh38: 2:27312255-27312255

Expression for Mpv17-Related Mitochondrial Dna Maintenance Defect

Search GEO for disease gene expression data for Mpv17-Related Mitochondrial Dna Maintenance Defect.

Pathways for Mpv17-Related Mitochondrial Dna Maintenance Defect

GO Terms for Mpv17-Related Mitochondrial Dna Maintenance Defect

Sources for Mpv17-Related Mitochondrial Dna Maintenance Defect

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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