MCID: MPV001
MIFTS: 16

Mpv17-Related Hepatocerebral Mitochondrial Dna Depletion Syndrome

Categories: Rare diseases, Neuronal diseases, Liver diseases, Genetic 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 53 25
Navajo Neurohepatopathy 53 25 73
Mitochondrial Dna Depletion Syndrome 6 53 25
Navajo Familial Neurogenic Arthropathy 25 73
Navajo Neuropathy 53 25
Mtdps6 53 25
Mpv17-Associated Hepatocerebral Mds 25
Nnh 25
Nn 53

Classifications:



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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 mpv17-related mitochondrial dna maintenance defect, and has symptoms including ataxia, diarrhea and vomiting. Affiliated tissues include liver.

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
2 mpv17-related mitochondrial dna maintenance defect 11.3

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...

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

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

41
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 (MPV17-NNH) revisited. ( 29473055 )
2016
2
Navajo neurohepatopathy is caused by a mutation in the MPV17 gene. ( 16909392 )
2006
3
Navajo neurohepatopathy: a mitochondrial DNA depletion syndrome? ( 11431741 )
2001
4
MPV17-Related Hepatocerebral Mitochondrial DNA Depletion Syndrome ( 22593919 )
1993

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

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
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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