MCID: MTC058
MIFTS: 26

Mitochondrial Dna Depletion Syndrome 6 malady

Categories: Genetic diseases, Metabolic diseases, Rare diseases, Neuronal diseases, Liver diseases

Aliases & Classifications for Mitochondrial Dna Depletion Syndrome 6

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Aliases & Descriptions for Mitochondrial Dna Depletion Syndrome 6:

Name: Mitochondrial Dna Depletion Syndrome 6 51 11 69 12 13
Navajo Neurohepatopathy 53 69 26 67
Navajo Familial Neurogenic Arthropathy 69 67
Navajo Neuropathy 53 69
 
Mitochondrial Dna Depletion 6 Hepatocerebral Type 69
Mtdps6 69
Nnh 69
Nn 69

Characteristics:

Orphanet epidemiological data:

53
navajo neurohepatopathy:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood

HPO:

63
mitochondrial dna depletion syndrome 6:
Inheritance: autosomal recessive inheritance
Onset and clinical course: infantile onset, progressive, phenotypic variability

Classifications:



External Ids:

OMIM51 256810
Disease Ontology11 DOID:0080125
Orphanet53 ORPHA255229
UMLS via Orphanet68 C1850406
MeSH38 D017237

Summaries for Mitochondrial Dna Depletion Syndrome 6

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OMIM:51 Mitochondrial DNA depletion syndrome-6 is an autosomal recessive disorder characterized by infantile onset of... (256810) more...

MalaCards based summary: Mitochondrial Dna Depletion Syndrome 6, also known as navajo neurohepatopathy, is related to mpv17-related hepatocerebral mitochondrial dna depletion syndrome and autoinflammation, lipodystrophy, and dermatosis syndrome, and has symptoms including recurrent corneal erosions, nystagmus and acral ulceration and osteomyelitis leading to autoamputation of digits. An important gene associated with Mitochondrial Dna Depletion Syndrome 6 is MPV17 (MPV17, Mitochondrial Inner Membrane Protein). Affiliated tissues include liver.

UniProtKB/Swiss-Prot:69 Mitochondrial DNA depletion syndrome 6: A disease due to mitochondrial dysfunction. It is characterized by infantile onset of progressive liver failure, often leading to death in the first year of life, peripheral neuropathy, corneal scarring, acral ulceration and osteomyelitis leading to autoamputation, cerebral leukoencephalopathy, failure to thrive, and recurrent metabolic acidosis with intercurrent infections.

Related Diseases for Mitochondrial Dna Depletion Syndrome 6

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Diseases related to Mitochondrial Dna Depletion Syndrome 6 via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1mpv17-related hepatocerebral mitochondrial dna depletion syndrome11.3
2autoinflammation, lipodystrophy, and dermatosis syndrome10.9

Symptoms for Mitochondrial Dna Depletion Syndrome 6

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Symptoms by clinical synopsis from OMIM:

256810

Clinical features from OMIM:

256810

Human phenotypes related to Mitochondrial Dna Depletion Syndrome 6:

 63 (show all 32)
id Description HPO Frequency HPO Source Accession
1 recurrent corneal erosions63 HP:0000495
2 nystagmus63 HP:0000639
3 acral ulceration and osteomyelitis leading to autoamputation of digits63 HP:0001226
4 ataxia63 HP:0001251
5 muscular hypotonia63 HP:0001252
6 global developmental delay63 HP:0001263
7 hyporeflexia63 HP:0001265
8 areflexia63 HP:0001284
9 dystonia63 HP:0001332
10 cirrhosis63 HP:0001394
11 macrovesicular hepatic steatosis63 HP:0001403
12 microvesicular hepatic steatosis63 HP:0001414
13 failure to thrive63 HP:0001508
14 abnormality of the foot63 HP:0001760
15 hypoglycemia63 HP:0001943
16 vomiting63 HP:0002013
17 diarrhea63 HP:0002014
18 hepatomegaly63 HP:0002240
19 distal muscle weakness63 HP:0002460
20 increased susceptibility to fractures63 HP:0002659
21 painless fractures due to injury63 HP:0002661
22 abnormality of the immune system63 HP:0002715
23 elevated hepatic transaminases63 HP:0002910
24 lactic acidosis63 HP:0003128
25 decreased number of peripheral myelinated nerve fibers63 HP:0003380
26 short stature63 HP:0004322
27 osteomyelitis leading to amputation due to slow healing fractures63 HP:0005010
28 acute hepatic failure63 HP:0006554
29 prolonged neonatal jaundice63 HP:0006579
30 reye syndrome-like episodes63 HP:0006582
31 pain insensitivity63 HP:0007021
32 sensorimotor neuropathy63 HP:0007141

UMLS symptoms related to Mitochondrial Dna Depletion Syndrome 6:


ataxia, diarrhea, hepatomegaly, vomiting

Drugs & Therapeutics for Mitochondrial Dna Depletion Syndrome 6

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Mitochondrial Dna Depletion Syndrome 6

Genetic Tests for Mitochondrial Dna Depletion Syndrome 6

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Genetic tests related to Mitochondrial Dna Depletion Syndrome 6:

id Genetic test Affiliating Genes
1 Navajo Neurohepatopathy26 24

Anatomical Context for Mitochondrial Dna Depletion Syndrome 6

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MalaCards organs/tissues related to Mitochondrial Dna Depletion Syndrome 6:

35
Liver

Animal Models for Mitochondrial Dna Depletion Syndrome 6 or affiliated genes

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Publications for Mitochondrial Dna Depletion Syndrome 6

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Variations for Mitochondrial Dna Depletion Syndrome 6

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UniProtKB/Swiss-Prot genetic disease variations for Mitochondrial Dna Depletion Syndrome 6:

69
id Symbol AA change Variation ID SNP ID
1MPV17p.Arg50GlnVAR_026217rs121909721
2MPV17p.Arg50TrpVAR_026218rs121909723
3MPV17p.Asn166LysVAR_026219rs121909722
4MPV17p.Lys88GluVAR_076199rs267607256
5MPV17p.Gly94ArgVAR_076202rs267607257
6MPV17p.Pro98LeuVAR_076203rs267607258
7MPV17p.Ala162AspVAR_076204rs267607259

Clinvar genetic disease variations for Mitochondrial Dna Depletion Syndrome 6:

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 Mitochondrial Dna Depletion Syndrome 6

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Search GEO for disease gene expression data for Mitochondrial Dna Depletion Syndrome 6.

Pathways for genes affiliated with Mitochondrial Dna Depletion Syndrome 6

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GO Terms for genes affiliated with Mitochondrial Dna Depletion Syndrome 6

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Sources for Mitochondrial Dna Depletion Syndrome 6

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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