NN
MCID: MPV001
MIFTS: 30

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

Metabolic diseases, Neuronal diseases, Liver diseases, Genetic diseases categories

Summaries for Mpv17-Related Hepatocerebral Mitochondrial Dna Depletion Syndrome

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3CDC, 21Genetics Home Reference, 46OMIM, 19GeneReviews, 32MalaCards
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Genetics Home Reference:21 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: Mpv17-Related Hepatocerebral Mitochondrial Dna Depletion Syndrome, also known as navajo neurohepatopathy, is related to neurogenic arthropathy and arthropathy. An important gene associated with Mpv17-Related Hepatocerebral Mitochondrial Dna Depletion Syndrome is MPV17 (MpV17 mitochondrial inner membrane protein). Affiliated tissues include liver.

CDC:3 The National Nursing Home Survey (NNHS) is a continuing series of national sample surveys of nursing homes, their residents, and their staff. Although each of these surveys emphasized different topics, they all provided some common basic information about nursing homes, their residents, and their staff. All nursing homes included in this survey had at least three beds and were either certified (by Medicare or Medicaid) or had a state license to operate as a nursing home.

Description from OMIM:46 256810

GeneReviews summary for mpv17-mtdep

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

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Sources:
19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 46OMIM, 22GTR, 48Orphanet, 60UMLS
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Classifications:



Characteristics (Orphanet epidemiological data):

48
navajo neurohepatopathy:
Inheritance: Autosomal recessive; Age of onset: Childhood


Aliases & Descriptions:

mpv17-related hepatocerebral mitochondrial dna depletion syndrome 19 42 20 21
navajo neurohepatopathy 42 20 22 21 48 60
mitochondrial dna depletion syndrome 6 42 21 46
navajo neuropathy 42 21 48
navajo familial neurogenic arthropathy 21 60
mtdps6 42 21
mpv17-associated hepatocerebral mds 21
nnh 21
nn 42


External Ids:

OMIM46 256810

Related Diseases for Mpv17-Related Hepatocerebral Mitochondrial Dna Depletion Syndrome

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17GeneCards, 18GeneDecks
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Diseases related to Mpv17-Related Hepatocerebral Mitochondrial Dna Depletion Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1neurogenic arthropathy10.4
2arthropathy10.4
3dguok-related mitochondrial dna depletion syndrome, hepatocerebral form10.3
4mitochondrial dna depletion syndrome 110.0
5tay-sachs disease10.0
6polydactyly10.0
7hepatitis10.0
8autoinflammation, lipodystrophy, and dermatosis syndrome10.0

Graphical network of diseases related to Mpv17-Related Hepatocerebral Mitochondrial Dna Depletion Syndrome:



Diseases related to mpv17-related hepatocerebral mitochondrial dna depletion syndrome

Clinical Features for Mpv17-Related Hepatocerebral Mitochondrial Dna Depletion Syndrome

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46OMIM
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Clinical features from OMIM:

256810

Clinical synopsis from OMIM:

256810

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

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Mpv17-Related Hepatocerebral Mitochondrial Dna Depletion Syndrome

Drug clinical trials:

Search ClinicalTrials for Mpv17-Related Hepatocerebral Mitochondrial Dna Depletion Syndrome

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

Search CenterWatch for Mpv17-Related Hepatocerebral Mitochondrial Dna Depletion Syndrome

Genetic Tests for Mpv17-Related Hepatocerebral Mitochondrial Dna Depletion Syndrome

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20GeneTests, 22GTR
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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 Syndrome20 MPV17
2 Navajo Neurohepatopathy20 22

Anatomical Context for Mpv17-Related Hepatocerebral Mitochondrial Dna Depletion Syndrome

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32MalaCards
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MalaCards organs/tissues related to Mpv17-Related Hepatocerebral Mitochondrial Dna Depletion Syndrome:

32
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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50PubMed
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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

Genetic Variations for Mpv17-Related Hepatocerebral Mitochondrial Dna Depletion Syndrome

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Mpv17-Related Hepatocerebral Mitochondrial Dna Depletion Syndrome:

62
id Symbol AA change Variation ID SNP ID
1MPV17p.Arg50GlnVAR_026217
2MPV17p.Arg50TrpVAR_026218
3MPV17p.Asn166LysVAR_026219

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

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Mpv17-Related Hepatocerebral Mitochondrial Dna Depletion Syndrome

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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Mpv17-Related Hepatocerebral Mitochondrial Dna Depletion Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet