NN
MCID: MPV001
MIFTS: 29

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

Genetic diseases, Rare diseases, Neuronal diseases, Liver diseases categories

Summaries for Mpv17-Related Hepatocerebral Mitochondrial Dna Depletion Syndrome

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4CDC, 48OMIM, 20GeneReviews, 34MalaCards
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CDC:4 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.

MalaCards: Mpv17-Related Hepatocerebral Mitochondrial Dna Depletion Syndrome, also known as navajo neurohepatopathy, is related to mitochondrial dna depletion syndrome and neurogenic arthropathy. An important gene associated with Mpv17-Related Hepatocerebral Mitochondrial Dna Depletion Syndrome is MPV17 (MpV17 mitochondrial inner membrane protein). Affiliated tissues include liver.

Description from OMIM:48 256810

GeneReviews summary for mpv17-mtdep

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

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Sources:
20GeneReviews, 44NIH Rare Diseases, 21GeneTests, 22Genetics Home Reference, 48OMIM, 23GTR, 50Orphanet, 63UMLS, 64UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

50
navajo neurohepatopathy:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Childhood


Aliases & Descriptions:

mpv17-related hepatocerebral mitochondrial dna depletion syndrome 20 44 21 22
navajo neurohepatopathy 44 21 23 22 50 63
mitochondrial dna depletion syndrome 6 44 22 48
navajo neuropathy 44 22 50
navajo familial neurogenic arthropathy 22 63
mtdps6 44 22
mpv17-associated hepatocerebral mds 22
nnh 22
nn 44


External Ids:

UMLS via Orphanet64 C1850406
OMIM48 256810

Related Diseases for Mpv17-Related Hepatocerebral Mitochondrial Dna Depletion Syndrome

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18GeneCards, 19GeneDecks
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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
1mitochondrial dna depletion syndrome10.6
2neurogenic arthropathy10.4
3arthropathy10.4
4mitochondrial dna depletion syndrome 110.1
5polydactyly10.0
6tay-sachs disease10.0
7hepatitis10.0
8autoinflammation, lipodystrophy, and dermatosis syndrome10.0
9teratoma10.0

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



Diseases related to mpv17-related hepatocerebral mitochondrial dna depletion syndrome

Symptoms for Mpv17-Related Hepatocerebral Mitochondrial Dna Depletion Syndrome

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48OMIM
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Symptoms by clinical synopsis from OMIM:

256810

Clinical features from OMIM:

256810

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

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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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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Sources:
21GeneTests, 23GTR
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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 Syndrome21 MPV17
2 Navajo Neurohepatopathy21 23

Anatomical Context for Mpv17-Related Hepatocerebral Mitochondrial Dna Depletion Syndrome

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34MalaCards
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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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53PubMed
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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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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Mpv17-Related Hepatocerebral Mitochondrial Dna Depletion Syndrome:

65
id Symbol AA change Variation ID SNP ID
1MPV17p.Arg50GlnVAR_026217
2MPV17p.Arg50TrpVAR_026218
3MPV17p.Asn166LysVAR_026219

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

1 (show all 21)
id Gene Name Type Significance SNP ID Assembly Location
1MPV17NM_002437.4(MPV17): c.149G> A (p.Arg50Gln)single nucleotide variantPathogenicrs121909721GRCh37Chr 2, 27535898: 27535898
2MPV17NM_002437.4(MPV17): c.498C> A (p.Asn166Lys)single nucleotide variantPathogenicrs121909722GRCh37Chr 2, 27532813: 27532813
3MPV17NM_002437.4(MPV17): c.148C> T (p.Arg50Trp)single nucleotide variantPathogenicrs121909723GRCh37Chr 2, 27535899: 27535899
4MPV17MPV17, 26-BP DEL, NT116deletionPathogenic
5MPV17NM_002437.4(MPV17): c.359G> A (p.Trp120Ter)single nucleotide variantPathogenicrs121909724GRCh37Chr 2, 27535377: 27535377
6MPV17NM_002437.4(MPV17): c.70G> T (p.Gly24Trp)single nucleotide variantPathogenicrs121909725GRCh37Chr 2, 27545315: 27545315
7MPV17NM_002437.4: c.462-904_*601del1575insGCCTGindelPathogenicGRCh37Chr 2, 27532179: 27533753
8MPV17NM_002437.4(MPV17): c.116_141del26 (p.Arg41Profs)deletionPathogenicrs397507438GRCh37Chr 2, 27535906: 27535931
9MPV17NM_002437.4(MPV17): c.186+2T> Csingle nucleotide variantPathogenicrs147952488GRCh37Chr 2, 27535859: 27535859
10MPV17NM_002437.4(MPV17): c.206G> A (p.Trp69Ter)single nucleotide variantPathogenicrs267607261GRCh37Chr 2, 27535620: 27535620
11MPV17NM_002437.4(MPV17): c.22dupC (p.Gln8Profs)duplicationPathogenicrs267607266GRCh37Chr 2, 27545362: 27545363
12MPV17NM_002437.4(MPV17): c.234_242delTGGCACCAC (p.Gly79_Thr81del)deletionPathogenicrs267607262GRCh37Chr 2, 27535584: 27535592
13MPV17NM_002437.4(MPV17): c.262A> G (p.Lys88Glu)single nucleotide variantPathogenicrs267607256GRCh37Chr 2, 27535564: 27535564
14MPV17NM_002437.4(MPV17): c.263_265delAGA (p.Lys88del)deletionPathogenicrs267607263GRCh37Chr 2, 27535561: 27535563
15MPV17NM_002437.4(MPV17): c.271_273delTTG (p.Leu91del)deletionPathogenicrs267607264GRCh37Chr 2, 27535553: 27535555
16MPV17NM_002437.4(MPV17): c.280G> C (p.Gly94Arg)single nucleotide variantPathogenicrs267607257GRCh37Chr 2, 27535456: 27535456
17MPV17NM_002437.4(MPV17): c.293C> T (p.Pro98Leu)single nucleotide variantPathogenicrs267607258GRCh37Chr 2, 27535443: 27535443
18MPV17NM_002437.4(MPV17): c.451dupC (p.Leu151Profs)duplicationPathogenicrs267607267GRCh37Chr 2, 27534776: 27534777
19MPV17NM_002437.4(MPV17): c.485C> A (p.Ala162Asp)single nucleotide variantPathogenicrs267607259GRCh37Chr 2, 27532826: 27532826
20MPV17NM_002437.4(MPV17): c.509C> T (p.Ser170Phe)single nucleotide variantPathogenicrs267607260GRCh37Chr 2, 27532802: 27532802
21MPV17NM_002437.4(MPV17): c.70+5G> Asingle nucleotide variantPathogenicrs267607268GRCh37Chr 2, 27545310: 27545310

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

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2BioGPS, 16Gene 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
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  • Lysates
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Sources for Mpv17-Related Hepatocerebral Mitochondrial Dna Depletion Syndrome

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet