MCID: MPV001
MIFTS: 21

Mpv17-Related Hepatocerebral Mitochondrial Dna Depletion Syndrome malady

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

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

About this section

Mpv17-Related Hepatocerebral Mitochondrial Dna Depletion Syndrome, Aliases & Descriptions:

Name: Mpv17-Related Hepatocerebral Mitochondrial Dna Depletion Syndrome 19 41 20 21
Navajo Neurohepatopathy 41 20 21 47 22 60
Navajo Neuropathy 41 21 47
Navajo Familial Neurogenic Arthropathy 21 60
Mitochondrial Dna Depletion Syndrome 6 41 21
 
Mtdps6 41 21
Mpv17-Associated Hepatocerebral Mds 21
Nnh 21
Nn 41


Classifications:



Characteristics (Orphanet epidemiological data):

47
navajo neurohepatopathy:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood


External Ids:

Orphanet47 255229
UMLS via Orphanet61 C1850406

Summaries for Mpv17-Related Hepatocerebral Mitochondrial Dna Depletion Syndrome

About this section


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 based summary: Mpv17-Related Hepatocerebral Mitochondrial Dna Depletion Syndrome, also known as navajo neurohepatopathy, is related to mitochondrial dna depletion syndrome 6 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.

GeneReviews summary for mpv17-mtdep

Related Diseases for Mpv17-Related Hepatocerebral Mitochondrial Dna Depletion Syndrome

About this section

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 610.7
2neurogenic arthropathy10.4
3arthropathy10.4
4autoinflammation, lipodystrophy, and dermatosis syndrome10.2
5mitochondrial dna depletion syndrome 110.1
6tay-sachs disease10.0
7hepatitis10.0
8polydactyly10.0
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

About this section

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

About this section

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

Genetic Tests for Mpv17-Related Hepatocerebral Mitochondrial Dna Depletion Syndrome

About this section

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

About this section

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

31
Liver

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

About this section

Publications for Mpv17-Related Hepatocerebral Mitochondrial Dna Depletion Syndrome

About this section

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

About this section

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

6 (show all 21)
id Gene Variation 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

About this section
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

About this section

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

About this section

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

About this section

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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Mpv17-Related Hepatocerebral Mitochondrial Dna Depletion Syndrome

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet