NN
MCID: MPV001
MIFTS: 15

Mpv17-Related Hepatocerebral Mitochondrial Dna Depletion Syndrome (NN) 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 23 48 25
Navajo Neurohepatopathy 48 24 25 68
Navajo Familial Neurogenic Arthropathy 25 68
Mitochondrial Dna Depletion Syndrome 6 48 25
Navajo Neuropathy 48 25
Mtdps6 48 25
 
Mpv17- Related Hepatocerebral Mitochondrial Dna Depletion Syndrome 24
Mpv17-Related Hepatocerebral Mtdna Depletion Syndrome 24
Mpv17-Associated Hepatocerebral Mds 25
Nnh 25
Nn 48

Classifications:



Summaries for Mpv17-Related Hepatocerebral Mitochondrial Dna Depletion Syndrome

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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 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 syndrome10.9
3mitochondrial dna depletion syndrome 110.9

Symptoms & Phenotypes 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, 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 Syndrome24 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:

36
Liver

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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet