MCID: MTC058
MIFTS: 26

Mitochondrial Dna Depletion Syndrome 6 malady

Categories: Genetic diseases (common), Metabolic 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 49 10 11 67
Navajo Neurohepatopathy 67 24 65
Navajo Familial Neurogenic Arthropathy 67 65
Mitochondrial Dna Depletion 6 Hepatocerebral Type 67
 
Navajo Neuropathy 67
Mtdps6 67
Nnh 67
Nn 67

Characteristics:

HPO:

61
mitochondrial dna depletion syndrome 6:
Onset and clinical course: phenotypic variability, progressive, infantile onset
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 256810
Disease Ontology10 DOID:0080125
MeSH36 D017237
UMLS65 C1850406, C1850407

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 autoinflammation, lipodystrophy, and dermatosis syndrome, and has symptoms including sensorimotor neuropathy, pain insensitivity and reye syndrome-like episodes. 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:

idRelated DiseaseScoreTop Affiliating Genes
1mpv17-related hepatocerebral mitochondrial dna depletion syndrome11.8
2autoinflammation, lipodystrophy, and dermatosis syndrome11.5

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 32)
id Description Frequency HPO Source Accession
1 sensorimotor neuropathy HP:0007141
2 pain insensitivity HP:0007021
3 reye syndrome-like episodes HP:0006582
4 prolonged neonatal jaundice HP:0006579
5 acute hepatic failure HP:0006554
6 osteomyelitis leading to amputation due to slow healing fractures HP:0005010
7 short stature HP:0004322
8 decreased number of peripheral myelinated nerve fibers HP:0003380
9 lactic acidosis HP:0003128
10 elevated hepatic transaminases HP:0002910
11 abnormality of the immune system HP:0002715
12 painless fractures due to injury HP:0002661
13 increased susceptibility to fractures HP:0002659
14 distal muscle weakness HP:0002460
15 hepatomegaly HP:0002240
16 diarrhea HP:0002014
17 vomiting HP:0002013
18 hypoglycemia HP:0001943
19 abnormality of the foot HP:0001760
20 failure to thrive HP:0001508
21 microvesicular hepatic steatosis HP:0001414
22 macrovesicular hepatic steatosis HP:0001403
23 cirrhosis HP:0001394
24 dystonia HP:0001332
25 areflexia HP:0001284
26 hyporeflexia HP:0001265
27 global developmental delay HP:0001263
28 muscular hypotonia HP:0001252
29 ataxia HP:0001251
30 acral ulceration and osteomyelitis leading to autoamputation of digits HP:0001226
31 nystagmus HP:0000639
32 recurrent corneal erosions HP:0000495

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 Neurohepatopathy22

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