NN
MCID: MPV001
MIFTS: 21

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

Metabolic, Neuronal, Liver, Genetic categories

Summaries for Mpv17-Related Hepatocerebral Mitochondrial Dna Depletion Syndrome

Sources:
21Genetics Home Reference, 3CDC, 47OMIM, 19GeneReviews, 33MalaCards
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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:47 256810

GeneReviews summary for mpv17-mtdep

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

Sources:
19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 49Orphanet, 61UMLS
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic
Anatomical: Metabolic, Neuronal, Liver


Characteristics (Orphanet epidemiological data):

49
navajo neurohepatopathy:
Inheritance: Autosomal recessive; Age of onset: Childhood


Aliases & Descriptions:

mpv17-related hepatocerebral mitochondrial dna depletion syndrome 19 43 20 21
navajo neurohepatopathy 43 20 22 21 49 61
mitochondrial dna depletion syndrome 6 43 21 47
navajo neuropathy 43 21 49
navajo familial neurogenic arthropathy 21 61
mtdps6 43 21
mpv17-associated hepatocerebral mds 21
nnh 21
nn 43


External Ids:

OMIM47 256810

Related Diseases for Mpv17-Related Hepatocerebral Mitochondrial Dna Depletion Syndrome

Sources:
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
3n syndrome10.3
4mitochondrial dna depletion syndrome 110.0
5sandhoff disease10.0
6polydactyly10.0
7autoinflammation, lipodystrophy, and dermatosis syndrome10.0
8teratoma10.0

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

Sources:
47OMIM
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Clinical features from OMIM:

256810

Clinical synopsis from OMIM:

256810

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

Sources:
5CenterWatch, 42NIH 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

Sources:
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

Sources:
33MalaCards
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MalaCards organs/tissues related to Mpv17-Related Hepatocerebral Mitochondrial Dna Depletion Syndrome:

33
Liver

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

Sources:
28inGenious Targeting Laboratory
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Publications for Mpv17-Related Hepatocerebral Mitochondrial Dna Depletion Syndrome

Genetic Variations for Mpv17-Related Hepatocerebral Mitochondrial Dna Depletion Syndrome

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Mpv17-Related Hepatocerebral Mitochondrial Dna Depletion Syndrome:

63
id Symbol AA change Variation SNP ID
1MPV17p.Arg50GlnVAR_026217
2MPV17p.Arg50TrpVAR_026218
3MPV17p.Asn166LysVAR_026219

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

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

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

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

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Mpv17-Related Hepatocerebral Mitochondrial Dna Depletion Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet