MCID: MPV001
MIFTS: 20

Mpv17-Related Hepatocerebral Mitochondrial Dna Depletion Syndrome malady

Categories: Genetic diseases, Rare diseases, Metabolic 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 21 45 23
Navajo Neurohepatopathy 45 22 23 51 65
Navajo Neuropathy 45 23 51
Navajo Familial Neurogenic Arthropathy 23 65
Mitochondrial Dna Depletion Syndrome 6 45 23
Mtdps6 45 23
 
Mpv17- Related Hepatocerebral Mitochondrial Dna Depletion Syndrome 22
Mpv17-Related Hepatocerebral Mtdna Depletion Syndrome 22
Mpv17-Associated Hepatocerebral Mds 23
Nnh 23
Nn 45

Characteristics:

Orphanet epidemiological data:

51
navajo neurohepatopathy:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood

Classifications:



External Ids:

Orphanet51 255229
UMLS via Orphanet66 C1850406
UMLS65 C1850406, C1850407

Summaries for Mpv17-Related Hepatocerebral Mitochondrial Dna Depletion Syndrome

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Genetics Home Reference:23 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 vomiting, hepatomegaly and diarrhea. 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:


vomiting, hepatomegaly, diarrhea, ataxia

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 Syndrome22 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:

33
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
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet