MCID: MPV001
MIFTS: 15

Mpv17-Related Hepatocerebral Mitochondrial Dna Depletion Syndrome

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

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

MalaCards integrated aliases for Mpv17-Related Hepatocerebral Mitochondrial Dna Depletion Syndrome:

Name: Mpv17-Related Hepatocerebral Mitochondrial Dna Depletion Syndrome 23 49 24
Navajo Neurohepatopathy 49 24 69
Mitochondrial Dna Depletion Syndrome 6 49 24
Navajo Familial Neurogenic Arthropathy 24 69
Navajo Neuropathy 49 24
Mtdps6 49 24
Mpv17-Associated Hepatocerebral Mds 24
Nnh 24
Nn 49

Classifications:



External Ids:

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

Genetics Home Reference : 24 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 has symptoms including vomiting, diarrhea and ataxia. 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:

# Related Disease Score Top Affiliating Genes
1 mitochondrial dna depletion syndrome 6 12.6

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

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


vomiting, diarrhea, ataxia

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...

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

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

38
Liver

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

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

# 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 23)
# 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.22_23insC (p.Gln8Profs) insertion 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.485C> A (p.Ala162Asp) single nucleotide variant Pathogenic rs267607259 GRCh37 Chromosome 2, 27532826: 27532826
19 MPV17 NM_002437.4(MPV17): c.509C> T (p.Ser170Phe) single nucleotide variant Pathogenic rs267607260 GRCh37 Chromosome 2, 27532802: 27532802
20 MPV17 NM_002437.4(MPV17): c.70+5G> A single nucleotide variant Pathogenic rs267607268 GRCh37 Chromosome 2, 27545310: 27545310
21 MPV17 NM_002437.4(MPV17): c.106C> T (p.Gln36Ter) single nucleotide variant Pathogenic rs754051090 GRCh37 Chromosome 2, 27535941: 27535941
22 MPV17 NM_002437.4(MPV17): c.409-1G> C single nucleotide variant Pathogenic rs886044280 GRCh37 Chromosome 2, 27534820: 27534820
23 MPV17 NM_002437.4(MPV17): c.284dupG (p.Phe96Leufs) duplication Pathogenic rs766160589 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...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....