MTDPS6
MCID: MTC058
MIFTS: 26

Mitochondrial Dna Depletion Syndrome 6 (MTDPS6) malady

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

Aliases & Classifications for Mitochondrial Dna Depletion Syndrome 6

Aliases & Descriptions for Mitochondrial Dna Depletion Syndrome 6:

Name: Mitochondrial Dna Depletion Syndrome 6 54 12 66 13 14
Navajo Neurohepatopathy 56 66 29 69
Navajo Familial Neurogenic Arthropathy 66 69
Navajo Neuropathy 56 66
Mitochondrial Dna Depletion 6 Hepatocerebral Type 66
Mtdps6 66
Nnh 66
Nn 66

Characteristics:

Orphanet epidemiological data:

56
navajo neurohepatopathy
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

HPO:

32
mitochondrial dna depletion syndrome 6:
Inheritance autosomal recessive inheritance
Onset and clinical course phenotypic variability infantile onset progressive


Classifications:

Orphanet: 56  
Inborn errors of metabolism


External Ids:

OMIM 54 256810
Disease Ontology 12 DOID:0080125
Orphanet 56 ORPHA255229
UMLS via Orphanet 70 C1850406
MeSH 42 D017237

Summaries for Mitochondrial Dna Depletion Syndrome 6

OMIM : 54 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, vomiting 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 : 66 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

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

id Related Disease Score Top Affiliating Genes
1 mpv17-related hepatocerebral mitochondrial dna depletion syndrome 11.3
2 autoinflammation, lipodystrophy, and dermatosis syndrome 10.9

Symptoms & Phenotypes for Mitochondrial Dna Depletion Syndrome 6

Symptoms by clinical synopsis from OMIM:

256810

Clinical features from OMIM:

256810

Human phenotypes related to Mitochondrial Dna Depletion Syndrome 6:

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

UMLS symptoms related to Mitochondrial Dna Depletion Syndrome 6:


ataxia, diarrhea, vomiting

Drugs & Therapeutics for Mitochondrial Dna Depletion Syndrome 6

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

Genetic Tests for Mitochondrial Dna Depletion Syndrome 6

Genetic tests related to Mitochondrial Dna Depletion Syndrome 6:

id Genetic test Affiliating Genes
1 Navajo Neurohepatopathy 29 24

Anatomical Context for Mitochondrial Dna Depletion Syndrome 6

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

39
Liver

Publications for Mitochondrial Dna Depletion Syndrome 6

Variations for Mitochondrial Dna Depletion Syndrome 6

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

66
id Symbol AA change Variation ID SNP ID
1 MPV17 p.Arg50Gln VAR_026217 rs121909721
2 MPV17 p.Arg50Trp VAR_026218 rs121909723
3 MPV17 p.Asn166Lys VAR_026219 rs121909722
4 MPV17 p.Lys88Glu VAR_076199 rs267607256
5 MPV17 p.Gly94Arg VAR_076202 rs267607257
6 MPV17 p.Pro98Leu VAR_076203 rs267607258
7 MPV17 p.Ala162Asp VAR_076204 rs267607259

ClinVar genetic disease variations for Mitochondrial Dna Depletion Syndrome 6:

6 (show all 24)
id Gene Variation Type Significance SNP ID Assembly Location
1 MPV17 NM_002437.4(MPV17): c.149G> A (p.Arg50Gln) single nucleotide variant Pathogenic rs121909721 GRCh37 Chromosome 2, 27535898: 27535898
2 MPV17 NM_002437.4(MPV17): c.498C> A (p.Asn166Lys) single nucleotide variant Pathogenic rs121909722 GRCh37 Chromosome 2, 27532813: 27532813
3 MPV17 NM_002437.4(MPV17): c.148C> T (p.Arg50Trp) single nucleotide variant Pathogenic rs121909723 GRCh37 Chromosome 2, 27535899: 27535899
4 MPV17 MPV17, 26-BP DEL, NT116 deletion Pathogenic
5 MPV17 NM_002437.4(MPV17): c.359G> A (p.Trp120Ter) single nucleotide variant Pathogenic rs121909724 GRCh37 Chromosome 2, 27535377: 27535377
6 MPV17 NM_002437.4(MPV17): c.70G> T (p.Gly24Trp) single nucleotide variant Pathogenic rs121909725 GRCh37 Chromosome 2, 27545315: 27545315
7 MPV17 NM_002437.4(MPV17): c.462-904_*601del1575insGCCTG indel Pathogenic GRCh37 Chromosome 2, 27532179: 27533753
8 MPV17 NM_002437.4(MPV17): c.116_141del26 (p.Arg41Profs) deletion Pathogenic rs397507438 GRCh37 Chromosome 2, 27535906: 27535931
9 MPV17 NM_002437.4(MPV17): c.186+2T> C single nucleotide variant Pathogenic rs147952488 GRCh37 Chromosome 2, 27535859: 27535859
10 MPV17 NM_002437.4(MPV17): c.206G> A (p.Trp69Ter) single nucleotide variant Pathogenic rs267607261 GRCh37 Chromosome 2, 27535620: 27535620
11 MPV17 NM_002437.4(MPV17): c.22dupC (p.Gln8Profs) duplication Pathogenic rs267607266 GRCh37 Chromosome 2, 27545363: 27545363
12 MPV17 NM_002437.4(MPV17): c.234_242delTGGCACCAC (p.Gly79_Thr81del) deletion Pathogenic rs267607262 GRCh37 Chromosome 2, 27535584: 27535592
13 MPV17 NM_002437.4(MPV17): c.262A> G (p.Lys88Glu) single nucleotide variant Pathogenic rs267607256 GRCh37 Chromosome 2, 27535564: 27535564
14 MPV17 NM_002437.4(MPV17): c.263_265delAGA (p.Lys88del) deletion Pathogenic/Likely pathogenic rs267607263 GRCh37 Chromosome 2, 27535561: 27535563
15 MPV17 NM_002437.4(MPV17): c.271_273delTTG (p.Leu91del) deletion Pathogenic rs267607264 GRCh37 Chromosome 2, 27535553: 27535555
16 MPV17 NM_002437.4(MPV17): c.280G> C (p.Gly94Arg) single nucleotide variant Pathogenic rs267607257 GRCh37 Chromosome 2, 27535456: 27535456
17 MPV17 NM_002437.4(MPV17): c.293C> T (p.Pro98Leu) single nucleotide variant Pathogenic rs267607258 GRCh37 Chromosome 2, 27535443: 27535443
18 MPV17 NM_002437.4(MPV17): c.451dupC (p.Leu151Profs) duplication Pathogenic rs267607267 GRCh37 Chromosome 2, 27534777: 27534777
19 MPV17 NM_002437.4(MPV17): c.485C> A (p.Ala162Asp) single nucleotide variant Pathogenic rs267607259 GRCh37 Chromosome 2, 27532826: 27532826
20 MPV17 NM_002437.4(MPV17): c.509C> T (p.Ser170Phe) single nucleotide variant Pathogenic rs267607260 GRCh37 Chromosome 2, 27532802: 27532802
21 MPV17 NM_002437.4(MPV17): c.70+5G> A single nucleotide variant Pathogenic rs267607268 GRCh37 Chromosome 2, 27545310: 27545310
22 MPV17 NM_002437.4(MPV17): c.106C> T (p.Gln36Ter) single nucleotide variant Pathogenic rs754051090 GRCh37 Chromosome 2, 27535941: 27535941
23 MPV17 NM_002437.4(MPV17): c.409-1G> C single nucleotide variant Pathogenic rs886044280 GRCh37 Chromosome 2, 27534820: 27534820
24 MPV17 NM_002437.4(MPV17): c.284dupG (p.Phe96Leufs) duplication Pathogenic rs886044454 GRCh37 Chromosome 2, 27535452: 27535452

Expression for Mitochondrial Dna Depletion Syndrome 6

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

Pathways for Mitochondrial Dna Depletion Syndrome 6

GO Terms for Mitochondrial Dna Depletion Syndrome 6

Sources for Mitochondrial Dna Depletion Syndrome 6

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