MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO
Disease Browser
Parent Node:
expand
Diseases (C)
Parent Node:
expand
Mitochondrial Diseases (D028361)
Parent Node:
expand
Navajo neurohepatopathy (C538344)
..Starting node
..expand
MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)

       Child Nodes:



 Sister Nodes: 
..expandMITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)  LSDB  L: 00035;
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:7318
Name:MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE)
Definition:
Alternative IDs:
ParentIDs:MESH:C538344|MESH:D028361
TreeNumbers:C06.552/C538344/256810 |C10.574.500/C538344/256810 |C10.668.829/C538344/256810 |C16.320.400/C538344/256810 |C18.452.660/256810 |C18.452.660/C538344/256810
Synonyms:MTDPS6 |NAVAJO NEUROHEPATOPATHY |NAVAJO NEUROPATHY;NN NAVAJO FAMILIAL NEUROGENIC ARTHROPATHY, INCLUDED |NNH
Slim Mappings:Digestive system disease|Genetic disease (inborn)|Metabolic disease|Nervous system disease
Reference: MedGen: 256810
MeSH: 256810
OMIM: 256810;
MSeqDR LSDB: 00035;  
Genes: MPV17;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0001226Acral ulceration and osteomyelitis leading to autoamputation of digits
3 HP:0003593Infantile onset
4 HP:0001760Abnormality of the foot
5 HP:0002715Abnormality of the immune system
6 HP:0006554Acute hepatic failure
7 HP:0001284Areflexia
8 HP:0001251Ataxia
9 HP:0001394Cirrhosis
NAMDC:  Cirrhosis
10 HP:0003380Decreased number of peripheral myelinated nerve fibers
11 HP:0002014Diarrhea
12 HP:0002460Distal muscle weakness
NAMDC:  Muscle weakness: distal
13 HP:0001332Dystonia
NAMDC:  Dystonia
14 HP:0002910Elevated hepatic transaminases
15 HP:0001508Failure to thrive
16 HP:0001263Global developmental delay
NAMDC:  Mental retardation
17 HP:0001263Global developmental delay
NAMDC:  Delayed development (evidence of at least one of A through F)
18 HP:0002240Hepatomegaly
19 HP:0001943Hypoglycemia
20 HP:0001265Hyporeflexia
21 HP:0002659Increased susceptibility to fractures
22 HP:0003128Lactic acidosis
23 HP:0001403Macrovesicular hepatic steatosis
24 HP:0001414Microvesicular hepatic steatosis
25 HP:0001252Muscular hypotonia
NAMDC:  Hypotonia
26 HP:0000639Nystagmus
27 HP:0005010Osteomyelitis leading to amputation due to slow healing fractures
28 HP:0007021Pain insensitivity
29 HP:0002661Painless fractures due to injury
30 HP:0003812Phenotypic variability
31 HP:0003676Progressive
32 HP:0006579Prolonged neonatal jaundice
33 HP:0000495Recurrent corneal erosions
34 HP:0006582Reye syndrome-like episodes
35 HP:0007141Sensorimotor neuropathy
36 HP:0004322Short stature
NAMDC:  Short stature (patient¡¯s height is below the 3rd percentile)
37 HP:0002013Vomiting
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_002437.4(MPV17):c.462-904_*601del1575insGCCTG4358MPV17Pathogenic-1RCV000017549; NMedGen:C1850406,OMIM:256810, Orphanet:ORPHA25522922753217927533753OMIM Allelic Variant:137960.0007,dbVar:nssv3761579,dbVar:nsv1067833C1850406 256810 Navajo neurohepatopathy;
NM_002437.4(MPV17):c.509C>T (p.Ser170Phe)4358MPV17Pathogenic267607260RCV000031914; NMedGen:C1850406,OMIM:256810, Orphanet:ORPHA25522922753280227532802-C1850406 256810 Navajo neurohepatopathy;
NM_002437.4(MPV17):c.498C>A (p.Asn166Lys)4358MPV17Pathogenic121909722RCV000017544; NMedGen:C1850406,OMIM:256810, Orphanet:ORPHA25522922753281327532813OMIM Allelic Variant:137960.0002,UniProtKB (protein):P39210#VAR_026219C1850406 256810 Navajo neurohepatopathy;
NM_002437.4(MPV17):c.485C>A (p.Ala162Asp)4358MPV17Pathogenic267607259RCV000031913; NMedGen:C1850406,OMIM:256810, Orphanet:ORPHA25522922753282627532826UniProtKB (protein):P39210#VAR_076204C1850406 256810 Navajo neurohepatopathy;
NM_002437.4(MPV17):c.461G>T (p.Arg154Met)4358MPV17Likely pathogenic886044113RCV000625516; RCV000485587; NMedGen:C1850406,OMIM:256810, Orphanet:ORPHA255229; MedGen:CN51720222753476727534767-C1850406 256810 Navajo neurohepatopathy;
NM_002437.4(MPV17):c.451dupC (p.Leu151Profs)4358MPV17Uncertain significance267607267RCV000031912; NMedGen:C1850406,OMIM:256810, Orphanet:ORPHA25522922753477727534777-C1850406 256810 Navajo neurohepatopathy;
NM_002437.4(MPV17):c.376-1G>A4358MPV17Pathogenic1423840146RCV000625520; NMedGen:C1850406,OMIM:256810, Orphanet:ORPHA25522922753511527535115-C1850406 256810 Navajo neurohepatopathy;
NM_002437.4(MPV17):c.376-2A>C4358MPV17Pathogenic113055360RCV000625519; NMedGen:C1850406,OMIM:256810, Orphanet:ORPHA25522922753511627535116-C1850406 256810 Navajo neurohepatopathy;
NM_002437.4(MPV17):c.359G>A (p.Trp120Ter)4358MPV17Pathogenic121909724RCV000017547; NMedGen:C1850406,OMIM:256810, Orphanet:ORPHA25522922753537727535377OMIM Allelic Variant:137960.0005C1850406 256810 Navajo neurohepatopathy;
NM_002437.4(MPV17):c.297T>A (p.Cys99Ter)4358MPV17Likely pathogenic1553383467RCV000625517; NMedGen:C1850406,OMIM:256810, Orphanet:ORPHA25522922753543927535439-C1850406 256810 Navajo neurohepatopathy;
NM_002437.4(MPV17):c.293C>T (p.Pro98Leu)4358MPV17Pathogenic267607258RCV000312148; RCV000031911; RCV000198122; NMedGen:CN239328; MedGen:C1850406,OMIM:256810, Orphanet:ORPHA255229; MedGen:CN51720222753544327535443UniProtKB (protein):P39210#VAR_076203CN239328 MPV17-Related Disorders;
NM_002437.4(MPV17):c.293delC (p.Pro98Argfs)4358MPV17Pathogenic1553383480RCV000625518; NMedGen:C1850406,OMIM:256810, Orphanet:ORPHA25522922753544327535443-C1850406 256810 Navajo neurohepatopathy;
NM_002437.4(MPV17):c.284dupG (p.Phe96Leufs)4358MPV17Pathogenic766160589RCV000265576; RCV000486235; NMedGen:C1850406,OMIM:256810, Orphanet:ORPHA255229; MedGen:CN51720222753545227535452-C1850406 256810 Navajo neurohepatopathy;
NM_002437.4(MPV17):c.284G>A (p.Gly95Asp)4358MPV17Uncertain significance1260392202RCV000625515; NMedGen:C1850406,OMIM:256810, Orphanet:ORPHA25522922753545227535452-C1850406 256810 Navajo neurohepatopathy;
NM_002437.4(MPV17):c.280G>C (p.Gly94Arg)4358MPV17Pathogenic267607257RCV000031910; NMedGen:C1850406,OMIM:256810, Orphanet:ORPHA25522922753545627535456UniProtKB (protein):P39210#VAR_076202C1850406 256810 Navajo neurohepatopathy;
NM_002437.4(MPV17):c.275A>G (p.Asp92Gly)4358MPV17Likely pathogenic1057524366RCV000625514; NMedGen:C1850406,OMIM:256810, Orphanet:ORPHA25522922753555127535551-C1850406 256810 Navajo neurohepatopathy;
NM_002437.4(MPV17):c.271_273delTTG (p.Leu91del)4358MPV17Uncertain significance267607264RCV000031909; RCV000597206; NMedGen:C1850406,OMIM:256810, Orphanet:ORPHA255229; MedGen:CN51720222753555327535555-C1850406 256810 Navajo neurohepatopathy;
NM_002437.4(MPV17):c.263_265delAGA (p.Lys88del)4358MPV17Likely pathogenic267607263RCV000031908; RCV000197566; NMedGen:C1850406,OMIM:256810, Orphanet:ORPHA255229; MedGen:CN51720222753556127535563-C1850406 256810 Navajo neurohepatopathy;
NM_002437.4(MPV17):c.262A>G (p.Lys88Glu)4358MPV17Pathogenic267607256RCV000031907; NMedGen:C1850406,OMIM:256810, Orphanet:ORPHA25522922753556427535564UniProtKB (protein):P39210#VAR_076199C1850406 256810 Navajo neurohepatopathy;
NM_002437.4(MPV17):c.234_242delTGGCACCAC (p.Gly79_Thr81del)4358MPV17Pathogenic267607262RCV000031906; NMedGen:C1850406,OMIM:256810, Orphanet:ORPHA25522922753558427535592-C1850406 256810 Navajo neurohepatopathy;
NM_002437.4(MPV17):c.206G>A (p.Trp69Ter)4358MPV17Pathogenic267607261RCV000735226; RCV000031904; Nna; MedGen:C1850406,OMIM:256810, Orphanet:ORPHA25522922753562027535620-C1850406 256810 Navajo neurohepatopathy;
NM_002437.4(MPV17):c.186+2T>C4358MPV17Pathogenic147952488RCV000031903; RCV000195573; NMedGen:C1850406,OMIM:256810, Orphanet:ORPHA255229; MedGen:CN51720222753585927535859-C1850406 256810 Navajo neurohepatopathy;
NM_002437.4(MPV17):c.149G>A (p.Arg50Gln)4358MPV17Pathogenic121909721RCV000017543; RCV000712314; NMedGen:C1850406,OMIM:256810, Orphanet:ORPHA255229; MedGen:CN51720222753589827535898OMIM Allelic Variant:137960.0001,UniProtKB (protein):P39210#VAR_026217C1850406 256810 Navajo neurohepatopathy;
NM_002437.4(MPV17):c.148C>T (p.Arg50Trp)4358MPV17Pathogenic121909723RCV000017545; RCV000264441; NMedGen:C1850406,OMIM:256810, Orphanet:ORPHA255229; MedGen:CN51720222753589927535899OMIM Allelic Variant:137960.0003,UniProtKB (protein):P39210#VAR_026218C1850406 256810 Navajo neurohepatopathy;
NM_002437.4(MPV17):c.116_141del26 (p.Arg41Profs)4358MPV17Pathogenic397507438RCV000031902; NMedGen:C1850406,OMIM:256810, Orphanet:ORPHA25522922753590627535931-C1850406 256810 Navajo neurohepatopathy;
NM_002437.4(MPV17):c.135delA (p.Glu45Aspfs)4358MPV17Pathogenic/Likely pathogenic777604559RCV000660561; RCV000196385; NMedGen:C1850406,OMIM:256810, Orphanet:ORPHA255229; MedGen:CN51720222753591227535912-C1850406 256810 Navajo neurohepatopathy;
NM_002437.4(MPV17):c.106C>T (p.Gln36Ter)4358MPV17Pathogenic754051090RCV000416870; NMedGen:C1850406,OMIM:256810, Orphanet:ORPHA25522922753594127535941-C1850406 256810 Navajo neurohepatopathy;
NM_002437.4(MPV17):c.71-2_79delins44358MPV17Pathogenic-1RCV000625521; NMedGen:C1850406,OMIM:256810, Orphanet:ORPHA25522922753596827535978-C1850406 256810 Navajo neurohepatopathy;
NM_002437.4(MPV17):c.70+5G>A4358MPV17Pathogenic267607268RCV000031915; NMedGen:C1850406,OMIM:256810, Orphanet:ORPHA25522922754531027545310-C1850406 256810 Navajo neurohepatopathy;
NM_002437.4(MPV17):c.70G>T (p.Gly24Trp)4358MPV17Pathogenic121909725RCV000017548; NMedGen:C1850406,OMIM:256810, Orphanet:ORPHA25522922754531527545315OMIM Allelic Variant:137960.0006C1850406 256810 Navajo neurohepatopathy;
NM_002437.4(MPV17):c.22_23insC (p.Gln8Profs)4358MPV17Pathogenic267607266RCV000031905; NMedGen:C1850406,OMIM:256810, Orphanet:ORPHA25522922754536327545363-C1850406 256810 Navajo neurohepatopathy;
MSeqDR Portal
Ensembl Gene IDAssociated Gene NameLSDB GenesLSDB VariantsclinVar hitsDescriptionDisease id
ENSG00000115204 MSeqDR Search EnsemblMPV1711731MpV17 mitochondrial inner membrane protein [Source:HGNC Symbol;Acc:7224]00035

*Click on gene and variants to check details. Or view all variants in new page