MCID: MTC058
MIFTS: 25

Mitochondrial Dna Depletion Syndrome 6 malady

Genetic diseases (common), Neuronal diseases, Liver diseases categories

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 49 11 67
Navajo Neurohepatopathy 65 67
Mitochondrial Dna Depletion 6 Hepatocerebral Type 67
Navajo Familial Neurogenic Arthropathy 67
 
Navajo Neuropathy 67
Mtdps6 67
Nnh 67
Nn 67


Classifications:



External Ids:

OMIM49 256810
MeSH36 D017237

Summaries for Mitochondrial Dna Depletion Syndrome 6

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OMIM:49 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 neurogenic arthropathy, and has symptoms including autosomal recessive inheritance, recurrent corneal erosions and nystagmus. An important gene associated with Mitochondrial Dna Depletion Syndrome 6 is MPV17 (MpV17 Mitochondrial Inner Membrane Protein). Affiliated tissues include liver.

UniProtKB/Swiss-Prot:67 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:

(show all 11)
idRelated DiseaseScoreTop Affiliating Genes
1mpv17-related hepatocerebral mitochondrial dna depletion syndrome10.5
2neurogenic arthropathy10.4
3arthropathy10.4
4autoinflammation, lipodystrophy, and dermatosis syndrome10.2
5mitochondrial dna depletion syndrome 110.1
6tay-sachs disease10.1
7hepatitis10.1
8polydactyly10.1
9noma10.1
10placenta disease10.1
11teratoma10.1

Graphical network of diseases related to Mitochondrial Dna Depletion Syndrome 6:



Diseases related to mitochondrial dna depletion syndrome 6

Symptoms for Mitochondrial Dna Depletion Syndrome 6

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Symptoms by clinical synopsis from OMIM:

256810

Clinical features from OMIM:

256810

HPO human phenotypes related to Mitochondrial Dna Depletion Syndrome 6:

(show all 36)
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 muscular hypotonia HP:0001252
7 global developmental delay HP:0001263
8 hyporeflexia HP:0001265
9 areflexia HP:0001284
10 dystonia HP:0001332
11 cirrhosis HP:0001394
12 macrovesicular hepatic steatosis HP:0001403
13 microvesicular hepatic steatosis HP:0001414
14 failure to thrive HP:0001508
15 abnormality of the foot HP:0001760
16 hypoglycemia HP:0001943
17 vomiting HP:0002013
18 diarrhea HP:0002014
19 hepatomegaly HP:0002240
20 distal muscle weakness HP:0002460
21 increased susceptibility to fractures HP:0002659
22 painless fractures due to injury HP:0002661
23 abnormality of the immune system HP:0002715
24 elevated hepatic transaminases HP:0002910
25 lactic acidosis HP:0003128
26 decreased number of peripheral myelinated nerve fibers HP:0003380
27 infantile onset HP:0003593
28 progressive HP:0003676
29 phenotypic variability HP:0003812
30 short stature HP:0004322
31 osteomyelitis leading to amputation due to slow healing fractures HP:0005010
32 acute hepatic failure HP:0006554
33 prolonged neonatal jaundice HP:0006579
34 reye syndrome-like episodes HP:0006582
35 pain insensitivity HP:0007021
36 sensorimotor neuropathy HP:0007141

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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Anatomical Context for Mitochondrial Dna Depletion Syndrome 6

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

33
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:

67
id Symbol AA change Variation ID SNP ID
1MPV17p.Arg50GlnVAR_026217
2MPV17p.Arg50TrpVAR_026218
3MPV17p.Asn166LysVAR_026219

Clinvar genetic disease variations for Mitochondrial Dna Depletion Syndrome 6:

5 (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(MPV17): 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, 27545363: 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, 27534777: 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 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
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet