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Mitochondrial Diseases (D028361)
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Navajo neurohepatopathy (C538344)
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MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)

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..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 (patientí»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,ORPHA:25522922753217927533753NM_002437.4:c.462-904_*601del1575insGCCTGOMIM 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,ORPHA:25522922753280227532802NM_002437.4:c.509C>TNP_002428.1:p.Ser170PheNC_000002.11:g.27532802G>A-C1850406 256810 Navajo neurohepatopathy
NM_002437.4(MPV17):c.498C>A (p.Asn166Lys)4358MPV17Pathogenic121909722RCV000017544; NMedGen:C1850406,OMIM:256810,ORPHA:25522922753281327532813NM_002437.4:c.498C>ANP_002428.1:p.Asn166LysNC_000002.11:g.27532813G>TOMIM Allelic Variant:137960.0002C1850406 256810 Navajo neurohepatopathy
NM_002437.4(MPV17):c.485C>A (p.Ala162Asp)4358MPV17Pathogenic267607259RCV000031913; NMedGen:C1850406,OMIM:256810,ORPHA:25522922753282627532826NM_002437.4:c.485C>ANP_002428.1:p.Ala162AspNC_000002.11:g.27532826G>T-C1850406 256810 Navajo neurohepatopathy
NM_002437.4(MPV17):c.451dupC (p.Leu151Profs)4358MPV17Pathogenic267607267RCV000031912; NMedGen:C1850406,OMIM:256810,ORPHA:25522922753477727534777NM_002437.4:c.451dupCNP_002428.1:p.Leu151ProfsNC_000002.11:g.27534777dupG-C1850406 256810 Navajo neurohepatopathy
NM_002437.4(MPV17):c.359G>A (p.Trp120Ter)4358MPV17Pathogenic121909724RCV000017547; NMedGen:C1850406,OMIM:256810,ORPHA:25522922753537727535377NM_002437.4:c.359G>ANP_002428.1:p.Trp120TerNC_000002.11:g.27535377C>TOMIM Allelic Variant:137960.0005C1850406 256810 Navajo neurohepatopathy
NM_002437.4(MPV17):c.293C>T (p.Pro98Leu)4358MPV17Pathogenic267607258RCV000031911; RCV000198122; NMedGen:C1850406,OMIM:256810,ORPHA:255229; MedGen:CN22180922753544327535443NM_002437.4:c.293C>TNP_002428.1:p.Pro98LeuNC_000002.11:g.27535443G>A-C1850406 256810 Navajo neurohepatopathy; CN221809 not provided
NM_002437.4(MPV17):c.280G>C (p.Gly94Arg)4358MPV17Pathogenic267607257RCV000031910; NMedGen:C1850406,OMIM:256810,ORPHA:25522922753545627535456NM_002437.4:c.280G>CNP_002428.1:p.Gly94ArgNC_000002.11:g.27535456C>G-C1850406 256810 Navajo neurohepatopathy
NM_002437.4(MPV17):c.271_273delTTG (p.Leu91del)4358MPV17Pathogenic267607264RCV000031909; NMedGen:C1850406,OMIM:256810,ORPHA:25522922753555327535555NM_002437.4:c.271_273delTTGNP_002428.1:p.Leu91delNC_000002.11:g.27535553_27535555delCAA-C1850406 256810 Navajo neurohepatopathy
NM_002437.4(MPV17):c.263_265delAGA (p.Lys88del)4358MPV17Pathogenic267607263RCV000031908; RCV000197566; NMedGen:C1850406,OMIM:256810,ORPHA:255229; MedGen:CN22180922753556127535563NM_002437.4:c.263_265delAGANP_002428.1:p.Lys88delNC_000002.11:g.27535561_27535563delTCT-C1850406 256810 Navajo neurohepatopathy; CN221809 not provided
NM_002437.4(MPV17):c.262A>G (p.Lys88Glu)4358MPV17Pathogenic267607256RCV000031907; NMedGen:C1850406,OMIM:256810,ORPHA:25522922753556427535564NM_002437.4:c.262A>GNP_002428.1:p.Lys88GluNC_000002.11:g.27535564T>C-C1850406 256810 Navajo neurohepatopathy
NM_002437.4(MPV17):c.234_242delTGGCACCAC (p.Gly79_Thr81del)4358MPV17Pathogenic267607262RCV000031906; NMedGen:C1850406,OMIM:256810,ORPHA:25522922753558427535592NM_002437.4:c.234_242delTGGCACCACNP_002428.1:p.Gly79_Thr81delNC_000002.11:g.27535584_27535592delGTGGTGCCA-C1850406 256810 Navajo neurohepatopathy
NM_002437.4(MPV17):c.206G>A (p.Trp69Ter)4358MPV17Pathogenic267607261RCV000031904; NMedGen:C1850406,OMIM:256810,ORPHA:25522922753562027535620NM_002437.4:c.206G>ANP_002428.1:p.Trp69TerNC_000002.11:g.27535620C>T-C1850406 256810 Navajo neurohepatopathy
NM_002437.4(MPV17):c.186+2T>C4358MPV17Pathogenic147952488RCV000031903; RCV000195573; NMedGen:C1850406,OMIM:256810,ORPHA:255229; MedGen:CN22180922753585927535859NM_002437.4:c.186+2T>CNC_000002.11:g.27535859A>G-C1850406 256810 Navajo neurohepatopathy; CN221809 not provided
NM_002437.4(MPV17):c.149G>A (p.Arg50Gln)4358MPV17Pathogenic121909721RCV000017543; NMedGen:C1850406,OMIM:256810,ORPHA:25522922753589827535898NM_002437.4:c.149G>ANP_002428.1:p.Arg50GlnNC_000002.11:g.27535898C>TOMIM Allelic Variant:137960.0001C1850406 256810 Navajo neurohepatopathy
NM_002437.4(MPV17):c.148C>T (p.Arg50Trp)4358MPV17Pathogenic121909723RCV000017545; NMedGen:C1850406,OMIM:256810,ORPHA:25522922753589927535899NM_002437.4:c.148C>TNP_002428.1:p.Arg50TrpNC_000002.11:g.27535899G>AOMIM Allelic Variant:137960.0003C1850406 256810 Navajo neurohepatopathy
NM_002437.4(MPV17):c.116_141del26 (p.Arg41Profs)4358MPV17Pathogenic397507438RCV000031902; NMedGen:C1850406,OMIM:256810,ORPHA:25522922753590627535931NM_002437.4:c.116_141del26NP_002428.1:p.Arg41ProfsNC_000002.11:g.27535906_27535931del26-C1850406 256810 Navajo neurohepatopathy
NM_002437.4(MPV17):c.70+5G>A4358MPV17Pathogenic267607268RCV000031915; NMedGen:C1850406,OMIM:256810,ORPHA:25522922754531027545310NM_002437.4:c.70+5G>ANC_000002.11:g.27545310C>T-C1850406 256810 Navajo neurohepatopathy
NM_002437.4(MPV17):c.70G>T (p.Gly24Trp)4358MPV17Pathogenic121909725RCV000017548; NMedGen:C1850406,OMIM:256810,ORPHA:25522922754531527545315NM_002437.4:c.70G>TNP_002428.1:p.Gly24TrpNC_000002.11:g.27545315C>AOMIM Allelic Variant:137960.0006C1850406 256810 Navajo neurohepatopathy
NM_002437.4(MPV17):c.22dupC (p.Gln8Profs)4358MPV17Pathogenic267607266RCV000031905; NMedGen:C1850406,OMIM:256810,ORPHA:25522922754536327545363NM_002437.4:c.22dupCNP_002428.1:p.Gln8ProfsNC_000002.11:g.27545363dupG-C1850406 256810 Navajo neurohepatopathy
MSeqDR Portal
Ensembl Gene IDAssociated Gene NameLSDB GenesLSDB VariantsclinVar hitsDescriptionDisease id
ENSG00000115204 MSeqDR Search EnsemblMPV1711720MpV17 mitochondrial inner membrane protein [Source:HGNC Symbol;Acc:7224]00035

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