MCID: MPV001
MIFTS: 16

Mpv17-Related Hepatocerebral Mitochondrial Dna Depletion Syndrome 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 47 25
Navajo Neurohepatopathy 47 24 25 67
Navajo Familial Neurogenic Arthropathy 25 67
Mitochondrial Dna Depletion Syndrome 6 47 25
Navajo Neuropathy 47 25
Mtdps6 47 25
 
Mpv17- Related Hepatocerebral Mitochondrial Dna Depletion Syndrome 24
Mpv17-Related Hepatocerebral Mtdna Depletion Syndrome 24
Mpv17-Associated Hepatocerebral Mds 25
Nnh 25
Nn 47

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 hepatomegaly. 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 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, hepatomegaly, 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:

35
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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Clinvar genetic disease variations for Mpv17-Related Hepatocerebral Mitochondrial Dna Depletion Syndrome:

5 (show all 23)
id Gene Variation Type Significance SNP ID Assembly Location
1MPV17NM_002437.4(MPV17): c.149G> A (p.Arg50Gln)SNVPathogenicrs121909721GRCh37Chr 2, 27535898: 27535898
2MPV17NM_002437.4(MPV17): c.498C> A (p.Asn166Lys)SNVPathogenicrs121909722GRCh37Chr 2, 27532813: 27532813
3MPV17NM_002437.4(MPV17): c.148C> T (p.Arg50Trp)SNVPathogenicrs121909723GRCh37Chr 2, 27535899: 27535899
4MPV17MPV17, 26-BP DEL, NT116deletionPathogenicChr na, -1: -1
5MPV17NM_002437.4(MPV17): c.359G> A (p.Trp120Ter)SNVPathogenicrs121909724GRCh37Chr 2, 27535377: 27535377
6MPV17NM_002437.4(MPV17): c.70G> T (p.Gly24Trp)SNVPathogenicrs121909725GRCh37Chr 2, 27545315: 27545315
7MPV17NM_002437.4(MPV17): c.462-904_*601del1575insGCCTGindelPathogenicGRCh37Chr 2, 27532179: 27533753
8MPV17NM_002437.4(MPV17): c.409-1G> CSNVPathogenicrs886044280GRCh37Chr 2, 27534820: 27534820
9MPV17NM_002437.4(MPV17): c.284dupG (p.Phe96Leufs)duplicationPathogenicrs766160589GRCh37Chr 2, 27535452: 27535452
10MPV17NM_002437.4(MPV17): c.116_141del26 (p.Arg41Profs)deletionPathogenicrs397507438GRCh37Chr 2, 27535906: 27535931
11MPV17NM_002437.4(MPV17): c.186+2T> CSNVPathogenicrs147952488GRCh37Chr 2, 27535859: 27535859
12MPV17NM_002437.4(MPV17): c.206G> A (p.Trp69Ter)SNVPathogenicrs267607261GRCh37Chr 2, 27535620: 27535620
13MPV17NM_002437.4(MPV17): c.22dupC (p.Gln8Profs)duplicationPathogenicrs267607266GRCh37Chr 2, 27545363: 27545363
14MPV17NM_002437.4(MPV17): c.234_242delTGGCACCAC (p.Gly79_Thr81del)deletionPathogenicrs267607262GRCh37Chr 2, 27535584: 27535592
15MPV17NM_002437.4(MPV17): c.262A> G (p.Lys88Glu)SNVPathogenicrs267607256GRCh37Chr 2, 27535564: 27535564
16MPV17NM_002437.4(MPV17): c.263_265delAGA (p.Lys88del)deletionLikely pathogenic, Pathogenicrs267607263GRCh37Chr 2, 27535561: 27535563
17MPV17NM_002437.4(MPV17): c.271_273delTTG (p.Leu91del)deletionPathogenicrs267607264GRCh37Chr 2, 27535553: 27535555
18MPV17NM_002437.4(MPV17): c.280G> C (p.Gly94Arg)SNVPathogenicrs267607257GRCh37Chr 2, 27535456: 27535456
19MPV17NM_002437.4(MPV17): c.293C> T (p.Pro98Leu)SNVPathogenicrs267607258GRCh37Chr 2, 27535443: 27535443
20MPV17NM_002437.4(MPV17): c.451dupC (p.Leu151Profs)duplicationPathogenicrs267607267GRCh37Chr 2, 27534777: 27534777
21MPV17NM_002437.4(MPV17): c.485C> A (p.Ala162Asp)SNVPathogenicrs267607259GRCh37Chr 2, 27532826: 27532826
22MPV17NM_002437.4(MPV17): c.509C> T (p.Ser170Phe)SNVPathogenicrs267607260GRCh37Chr 2, 27532802: 27532802
23MPV17NM_002437.4(MPV17): c.70+5G> ASNVPathogenicrs267607268GRCh37Chr 2, 27545310: 27545310

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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet