MCID: MTC058
MIFTS: 27

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 50 11 13 68 12
Navajo Neurohepatopathy 52 68 25 66
Navajo Neuropathy 52 68
Mitochondrial Dna Depletion 6 Hepatocerebral Type 68
 
Navajo Familial Neurogenic Arthropathy 68
Mtdps6 68
Nnh 68
Nn 68

Characteristics:

Orphanet epidemiological data:

52
navajo neurohepatopathy:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood

HPO:

62
mitochondrial dna depletion syndrome 6:
Inheritance: autosomal recessive inheritance
Onset and clinical course: infantile onset, progressive, phenotypic variability


Classifications:



External Ids:

OMIM50 256810
Disease Ontology11 DOID:0080125
Orphanet52 ORPHA255229
UMLS via Orphanet67 C1850406
MeSH37 D017237

Summaries for Mitochondrial Dna Depletion Syndrome 6

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OMIM:50 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 ataxia, ataxia and diarrhea. An important gene associated with Mitochondrial Dna Depletion Syndrome 6 is MPV17 (MPV17, Mitochondrial Inner Membrane Protein). Affiliated tissues include liver.

UniProtKB/Swiss-Prot:68 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 syndrome11.4
2autoinflammation, lipodystrophy, and dermatosis syndrome11.1

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 recurrent corneal erosions HP:0000495
2 nystagmus HP:0000639
3 acral ulceration and osteomyelitis leading to autoamputation of digits HP:0001226
4 ataxia HP:0001251
5 muscular hypotonia HP:0001252
6 global developmental delay HP:0001263
7 hyporeflexia HP:0001265
8 areflexia HP:0001284
9 dystonia HP:0001332
10 cirrhosis HP:0001394
11 macrovesicular hepatic steatosis HP:0001403
12 microvesicular hepatic steatosis HP:0001414
13 failure to thrive HP:0001508
14 abnormality of the foot HP:0001760
15 hypoglycemia HP:0001943
16 vomiting HP:0002013
17 diarrhea HP:0002014
18 hepatomegaly HP:0002240
19 distal muscle weakness HP:0002460
20 increased susceptibility to fractures HP:0002659
21 painless fractures due to injury HP:0002661
22 abnormality of the immune system HP:0002715
23 elevated hepatic transaminases HP:0002910
24 lactic acidosis HP:0003128
25 decreased number of peripheral myelinated nerve fibers HP:0003380
26 short stature HP:0004322
27 osteomyelitis leading to amputation due to slow healing fractures HP:0005010
28 acute hepatic failure HP:0006554
29 prolonged neonatal jaundice HP:0006579
30 reye syndrome-like episodes HP:0006582
31 pain insensitivity HP:0007021
32 sensorimotor neuropathy 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 Neurohepatopathy25 23

Anatomical Context for Mitochondrial Dna Depletion Syndrome 6

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

34
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:

68
id Symbol AA change Variation ID SNP ID
1MPV17p.Arg50GlnVAR_026217rs121909721
2MPV17p.Arg50TrpVAR_026218rs121909723
3MPV17p.Asn166LysVAR_026219rs121909722
4MPV17p.Lys88GluVAR_076199
5MPV17p.Gly94ArgVAR_076202
6MPV17p.Pro98LeuVAR_076203
7MPV17p.Ala162AspVAR_076204

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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet