NN
MCID: MPV001
MIFTS: 30

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

Genetic diseases, Rare diseases, Metabolic diseases, Neuronal diseases, Liver diseases categories
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Summaries for Mpv17-Related Hepatocerebral Mitochondrial Dna Depletion Syndrome

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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 based summary: Mpv17-Related Hepatocerebral Mitochondrial Dna Depletion Syndrome, also known as navajo neurohepatopathy, is related to neurogenic arthropathy and arthropathy, and has symptoms including 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:46 256810

GeneReviews summary for mpv17-mtdep

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

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

Name: Mpv17-Related Hepatocerebral Mitochondrial Dna Depletion Syndrome 19 42 20 21 62
Navajo Neurohepatopathy 42 20 22 21 48 62
Mitochondrial Dna Depletion Syndrome 6 42 21 46 62
Navajo Neuropathy 42 21 48
Navajo Familial Neurogenic Arthropathy 21 62
 
Mpv17-Associated Hepatocerebral Mds 21 62
Mtdps6 42 21
Nnh 21
Nn 42


Classifications:



Characteristics (Orphanet epidemiological data):

48
navajo neurohepatopathy:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Childhood


External Ids:

OMIM46 256810
UMLS via Orphanet63 C1850406

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/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1neurogenic arthropathy10.4
2arthropathy10.4
3mitochondrial dna depletion syndrome 110.1
4hepatitis10.0
5tay-sachs 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

Symptoms for Mpv17-Related Hepatocerebral Mitochondrial Dna Depletion Syndrome

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Symptoms by clinical synopsis from OMIM:

256810

Clinical features from OMIM:

256810

HPO human phenotypes related to Mpv17-Related Hepatocerebral Mitochondrial Dna Depletion Syndrome:

(show all 35)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 recurrent corneal erosions HP:0000495
3 nystagmus HP:0000639
4 acral ulceration and osteomyelitis leading to autoamputation of digits HP:0001226
5 ataxia HP:0001251
6 global developmental delay HP:0001263
7 hyporeflexia HP:0001265
8 areflexia HP:0001284
9 dystonia HP:0001332
10 cirrhosis HP:0001394
11 macrovesicular hepatic steatosis HP:0001403
12 microvesicular hepatic steatosis HP:0001414
13 failure to thrive HP:0001508
14 abnormality of the foot HP:0001760
15 hypoglycemia HP:0001943
16 vomiting HP:0002013
17 diarrhea HP:0002014
18 hepatomegaly HP:0002240
19 distal muscle weakness HP:0002460
20 increased susceptibility to fractures HP:0002659
21 painless fractures due to injury HP:0002661
22 abnormality of the immune system HP:0002715
23 elevated hepatic transaminases HP:0002910
24 lactic acidosis HP:0003128
25 decreased number of peripheral myelinated nerve fibers HP:0003380
26 infantile onset HP:0003593
27 progressive disorder HP:0003676
28 phenotypic variability HP:0003812
29 short stature HP:0004322
30 osteomyelitis leading to amputation due to slow healing fractures HP:0005010
31 acute hepatic failure HP:0006554
32 prolonged neonatal jaundice HP:0006579
33 reye syndrome-like episodes HP:0006582
34 pain insensitivity HP:0007021
35 sensorimotor neuropathy HP:0007141

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

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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

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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

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

32
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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UniProtKB/Swiss-Prot genetic disease variations for Mpv17-Related Hepatocerebral Mitochondrial Dna Depletion Syndrome:

64
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:

6 (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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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
  • Proteins
  • Lysates

Sources for Mpv17-Related Hepatocerebral Mitochondrial Dna Depletion Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet