MCID: MPV002
MIFTS: 13

Mpv17-Related Mitochondrial Dna Maintenance Defect

Categories: Liver diseases, Neuronal 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
Mpv17 Hepatocerebral Mitochondrial Dna Depletion Syndrome 25
Mitochondrial Dna Depletion Syndrome 6 25
Navajo Neurohepatopathy 74
, Hepatocerebral Type 25
Mpv17 Deficiency 25
Mtdps6 25

Classifications:



External Ids:

UMLS 74 C1850406

Summaries for Mpv17-Related Mitochondrial Dna Maintenance Defect

MalaCards based summary : Mpv17-Related Mitochondrial Dna Maintenance Defect, also known as mpv17 hepatocerebral mitochondrial dna depletion syndrome, is related to mitochondrial dna depletion syndrome 6 and mpv17-related hepatocerebral mitochondrial dna depletion syndrome, 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:

# Related Disease Score Top Affiliating Genes
1 mitochondrial dna depletion syndrome 6 12.8
2 mpv17-related hepatocerebral mitochondrial dna depletion syndrome 11.6
3 mitochondrial dna depletion syndrome 15 11.6
4 mitochondrial dna depletion syndrome 3 10.9
5 mitochondrial dna depletion syndrome 7 10.9
6 mitochondrial dna depletion syndrome 10.4

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:

42
Liver

Publications for Mpv17-Related Mitochondrial Dna Maintenance Defect

Articles related to Mpv17-Related Mitochondrial Dna Maintenance Defect:

# Title Authors Year
1
MPV17-related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects. ( 29282788 )
2018

Variations for Mpv17-Related Mitochondrial Dna Maintenance Defect

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MPV17 NM_002437.4(MPV17): c.206G> A (p.Trp69Ter) single nucleotide variant Pathogenic rs267607261 GRCh37 Chromosome 2, 27535620: 27535620
2 MPV17 NM_002437.4(MPV17): c.206G> A (p.Trp69Ter) single nucleotide variant Pathogenic rs267607261 GRCh38 Chromosome 2, 27312753: 27312753
3 MPV17 NM_002437.5(MPV17): c.376-9T> G single nucleotide variant Conflicting interpretations of pathogenicity GRCh37 Chromosome 2, 27535123: 27535123
4 MPV17 NM_002437.5(MPV17): c.376-9T> G single nucleotide variant Conflicting interpretations of pathogenicity GRCh38 Chromosome 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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
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35 ICD10 via Orphanet
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63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
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72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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