NN
MCID: MPV001
MIFTS: 15

Mpv17-Related Hepatocerebral Mitochondrial Dna Depletion Syndrome (NN) malady

Categories: Rare diseases, Genetic diseases, Neuronal diseases, Liver diseases

Aliases & Classifications for Mpv17-Related Hepatocerebral Mitochondrial Dna Depletion...

Aliases & Descriptions for Mpv17-Related Hepatocerebral Mitochondrial Dna Depletion Syndrome:

Name: Mpv17-Related Hepatocerebral Mitochondrial Dna Depletion Syndrome 23 50 25
Navajo Neurohepatopathy 50 24 25 69
Mitochondrial Dna Depletion Syndrome 6 50 25
Navajo Familial Neurogenic Arthropathy 25 69
Navajo Neuropathy 50 25
Mtdps6 50 25
Mpv17- Related Hepatocerebral Mitochondrial Dna Depletion Syndrome 24
Mpv17-Related Hepatocerebral Mtdna Depletion Syndrome 24
Mpv17-Associated Hepatocerebral Mds 25
Nnh 25
Nn 50

Classifications:



Summaries for Mpv17-Related Hepatocerebral Mitochondrial Dna Depletion...

Genetics Home Reference : 25 MPV17-related hepatocerebral mitochondrial DNA depletion syndrome is an inherited disorder that can cause liver disease and neurological problems. The signs and symptoms of this condition begin in infancy and typically include vomiting, diarrhea, and an inability to grow or gain weight at the expected rate (failure to thrive). Many affected infants have a buildup of a chemical called lactic acid in the body (lactic acidosis) and low blood sugar (hypoglycemia). Within the first weeks of life, infants develop liver disease that quickly progresses to liver failure. The liver is frequently enlarged (hepatomegaly) and liver cells often have a reduced ability to release a digestive fluid called bile (cholestasis). Rarely, affected children develop liver cancer. After the onset of liver disease, many affected infants develop neurological problems, which can include developmental delay, weak muscle tone (hypotonia), and reduced sensation in the limbs (peripheral neuropathy). Individuals with MPV17-related hepatocerebral mitochondrial DNA depletion syndrome typically survive only into infancy or early childhood.

MalaCards based summary : Mpv17-Related Hepatocerebral Mitochondrial Dna Depletion Syndrome, also known as navajo neurohepatopathy, is related to mitochondrial dna depletion syndrome 6 and autoinflammation, lipodystrophy, and dermatosis syndrome, and has symptoms including ataxia, diarrhea and vomiting. An important gene associated with Mpv17-Related Hepatocerebral Mitochondrial Dna Depletion Syndrome is MPV17 (MPV17, Mitochondrial Inner Membrane Protein). Affiliated tissues include liver.

GeneReviews: NBK92947

Related Diseases for Mpv17-Related Hepatocerebral Mitochondrial Dna Depletion...

Diseases related to Mpv17-Related Hepatocerebral Mitochondrial Dna Depletion Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 mitochondrial dna depletion syndrome 6 12.5
2 autoinflammation, lipodystrophy, and dermatosis syndrome 10.9
3 mitochondrial dna depletion syndrome 1 10.9

Symptoms & Phenotypes for Mpv17-Related Hepatocerebral Mitochondrial Dna Depletion...

UMLS symptoms related to Mpv17-Related Hepatocerebral Mitochondrial Dna Depletion Syndrome:


ataxia, diarrhea, vomiting

Drugs & Therapeutics for Mpv17-Related Hepatocerebral Mitochondrial Dna Depletion...

Search Clinical Trials , NIH Clinical Center for Mpv17-Related Hepatocerebral Mitochondrial Dna Depletion Syndrome

Genetic Tests for Mpv17-Related Hepatocerebral Mitochondrial Dna Depletion...

Genetic tests related to Mpv17-Related Hepatocerebral Mitochondrial Dna Depletion Syndrome:

id Genetic test Affiliating Genes
1 Mpv17- Related Hepatocerebral Mitochondrial Dna Depletion Syndrome 24 MPV17

Anatomical Context for Mpv17-Related Hepatocerebral Mitochondrial Dna Depletion...

MalaCards organs/tissues related to Mpv17-Related Hepatocerebral Mitochondrial Dna Depletion Syndrome:

39
Liver

Publications for Mpv17-Related Hepatocerebral Mitochondrial Dna Depletion...

Articles related to Mpv17-Related Hepatocerebral Mitochondrial Dna Depletion Syndrome:

id Title Authors Year
1
MPV17-Related Hepatocerebral Mitochondrial DNA Depletion Syndrome ( 22593919 )
1993

Variations for Mpv17-Related Hepatocerebral Mitochondrial Dna Depletion...

ClinVar genetic disease variations for Mpv17-Related Hepatocerebral Mitochondrial Dna Depletion Syndrome:

6 (show all 24)
id Gene Variation Type Significance SNP ID Assembly Location
1 MPV17 NM_002437.4(MPV17): c.149G> A (p.Arg50Gln) single nucleotide variant Pathogenic rs121909721 GRCh37 Chromosome 2, 27535898: 27535898
2 MPV17 NM_002437.4(MPV17): c.498C> A (p.Asn166Lys) single nucleotide variant Pathogenic rs121909722 GRCh37 Chromosome 2, 27532813: 27532813
3 MPV17 NM_002437.4(MPV17): c.148C> T (p.Arg50Trp) single nucleotide variant Pathogenic rs121909723 GRCh37 Chromosome 2, 27535899: 27535899
4 MPV17 MPV17, 26-BP DEL, NT116 deletion Pathogenic
5 MPV17 NM_002437.4(MPV17): c.359G> A (p.Trp120Ter) single nucleotide variant Pathogenic rs121909724 GRCh37 Chromosome 2, 27535377: 27535377
6 MPV17 NM_002437.4(MPV17): c.70G> T (p.Gly24Trp) single nucleotide variant Pathogenic rs121909725 GRCh37 Chromosome 2, 27545315: 27545315
7 MPV17 NM_002437.4(MPV17): c.462-904_*601del1575insGCCTG indel Pathogenic GRCh37 Chromosome 2, 27532179: 27533753
8 MPV17 NM_002437.4(MPV17): c.116_141del26 (p.Arg41Profs) deletion Pathogenic rs397507438 GRCh37 Chromosome 2, 27535906: 27535931
9 MPV17 NM_002437.4(MPV17): c.186+2T> C single nucleotide variant Pathogenic rs147952488 GRCh37 Chromosome 2, 27535859: 27535859
10 MPV17 NM_002437.4(MPV17): c.206G> A (p.Trp69Ter) single nucleotide variant Pathogenic rs267607261 GRCh37 Chromosome 2, 27535620: 27535620
11 MPV17 NM_002437.4(MPV17): c.22dupC (p.Gln8Profs) duplication Pathogenic rs267607266 GRCh37 Chromosome 2, 27545363: 27545363
12 MPV17 NM_002437.4(MPV17): c.234_242delTGGCACCAC (p.Gly79_Thr81del) deletion Pathogenic rs267607262 GRCh37 Chromosome 2, 27535584: 27535592
13 MPV17 NM_002437.4(MPV17): c.262A> G (p.Lys88Glu) single nucleotide variant Pathogenic rs267607256 GRCh37 Chromosome 2, 27535564: 27535564
14 MPV17 NM_002437.4(MPV17): c.263_265delAGA (p.Lys88del) deletion Pathogenic/Likely pathogenic rs267607263 GRCh37 Chromosome 2, 27535561: 27535563
15 MPV17 NM_002437.4(MPV17): c.271_273delTTG (p.Leu91del) deletion Pathogenic rs267607264 GRCh37 Chromosome 2, 27535553: 27535555
16 MPV17 NM_002437.4(MPV17): c.280G> C (p.Gly94Arg) single nucleotide variant Pathogenic rs267607257 GRCh37 Chromosome 2, 27535456: 27535456
17 MPV17 NM_002437.4(MPV17): c.293C> T (p.Pro98Leu) single nucleotide variant Pathogenic rs267607258 GRCh37 Chromosome 2, 27535443: 27535443
18 MPV17 NM_002437.4(MPV17): c.451dupC (p.Leu151Profs) duplication Pathogenic rs267607267 GRCh37 Chromosome 2, 27534777: 27534777
19 MPV17 NM_002437.4(MPV17): c.485C> A (p.Ala162Asp) single nucleotide variant Pathogenic rs267607259 GRCh37 Chromosome 2, 27532826: 27532826
20 MPV17 NM_002437.4(MPV17): c.509C> T (p.Ser170Phe) single nucleotide variant Pathogenic rs267607260 GRCh37 Chromosome 2, 27532802: 27532802
21 MPV17 NM_002437.4(MPV17): c.70+5G> A single nucleotide variant Pathogenic rs267607268 GRCh37 Chromosome 2, 27545310: 27545310
22 MPV17 NM_002437.4(MPV17): c.106C> T (p.Gln36Ter) single nucleotide variant Pathogenic rs754051090 GRCh37 Chromosome 2, 27535941: 27535941
23 MPV17 NM_002437.4(MPV17): c.409-1G> C single nucleotide variant Pathogenic rs886044280 GRCh37 Chromosome 2, 27534820: 27534820
24 MPV17 NM_002437.4(MPV17): c.284dupG (p.Phe96Leufs) duplication Pathogenic rs886044454 GRCh37 Chromosome 2, 27535452: 27535452

Expression for Mpv17-Related Hepatocerebral Mitochondrial Dna Depletion...

Search GEO for disease gene expression data for Mpv17-Related Hepatocerebral Mitochondrial Dna Depletion Syndrome.

Pathways for Mpv17-Related Hepatocerebral Mitochondrial Dna Depletion...

GO Terms for Mpv17-Related Hepatocerebral Mitochondrial Dna Depletion...

Sources for Mpv17-Related Hepatocerebral Mitochondrial Dna Depletion...

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