MCID: MPV001
MIFTS: 16

Mpv17-Related Hepatocerebral Mitochondrial Dna Depletion Syndrome malady

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

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

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

Name: Mpv17-Related Hepatocerebral Mitochondrial Dna Depletion Syndrome 22 46 24
Navajo Neurohepatopathy 46 23 24 66
Mitochondrial Dna Depletion Syndrome 6 46 24
Navajo Familial Neurogenic Arthropathy 24 66
Navajo Neuropathy 46 24
Mtdps6 46 24
 
Mpv17- Related Hepatocerebral Mitochondrial Dna Depletion Syndrome 23
Mpv17-Related Hepatocerebral Mtdna Depletion Syndrome 23
Mpv17-Associated Hepatocerebral Mds 24
Nnh 24
Nn 46

Classifications:



Summaries for Mpv17-Related Hepatocerebral Mitochondrial Dna Depletion Syndrome

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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 autoinflammation, lipodystrophy, and dermatosis syndrome, and has symptoms including ataxia, diarrhea and hepatomegaly. An important gene associated with Mpv17-Related Hepatocerebral Mitochondrial Dna Depletion Syndrome is MPV17 (MPV17, Mitochondrial Inner Membrane Protein). Affiliated tissues include liver.

GeneReviews summary for NBK92947

Related Diseases for Mpv17-Related Hepatocerebral Mitochondrial Dna Depletion Syndrome

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

idRelated DiseaseScoreTop Affiliating Genes
1mitochondrial dna depletion syndrome 612.5
2autoinflammation, lipodystrophy, and dermatosis syndrome11.1

Symptoms for Mpv17-Related Hepatocerebral Mitochondrial Dna Depletion Syndrome

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


ataxia, diarrhea, hepatomegaly, vomiting

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

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Interventional clinical trials:

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

Genetic Tests for Mpv17-Related Hepatocerebral Mitochondrial Dna Depletion Syndrome

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

id Genetic test Affiliating Genes
1 Mpv17- Related Hepatocerebral Mitochondrial Dna Depletion Syndrome23 MPV17

Anatomical Context for Mpv17-Related Hepatocerebral Mitochondrial Dna Depletion Syndrome

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

34
Liver

Animal Models for Mpv17-Related Hepatocerebral Mitochondrial Dna Depletion Syndrome or affiliated genes

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Publications for Mpv17-Related Hepatocerebral Mitochondrial Dna Depletion Syndrome

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

idTitleAuthorsYear
1
MPV17-Related Hepatocerebral Mitochondrial DNA Depletion Syndrome (22593919)
1993

Variations for Mpv17-Related Hepatocerebral Mitochondrial Dna Depletion Syndrome

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Expression for genes affiliated with Mpv17-Related Hepatocerebral Mitochondrial Dna Depletion Syndrome

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

Pathways for genes affiliated with Mpv17-Related Hepatocerebral Mitochondrial Dna Depletion Syndrome

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GO Terms for genes affiliated with Mpv17-Related Hepatocerebral Mitochondrial Dna Depletion Syndrome

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Sources for Mpv17-Related Hepatocerebral Mitochondrial Dna Depletion Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet