MCID: MTC058
MIFTS: 29

Mitochondrial Dna Depletion Syndrome 6

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

Aliases & Classifications for Mitochondrial Dna Depletion Syndrome 6

MalaCards integrated aliases for Mitochondrial Dna Depletion Syndrome 6:

Name: Mitochondrial Dna Depletion Syndrome 6 57 12 75 13 15
Navajo Neurohepatopathy 57 59 75 29 6 73
Navajo Neuropathy 57 59 75
Navajo Familial Neurogenic Arthropathy 75 73
Mtdps6 57 75
Nnh 57 75
Nn 57 75
Mitochondrial Dna Depletion 6 Hepatocerebral Type 75
Mitochondrial Dna Depletion Syndrome , Type 6 40
Navajo Neurohepatopathy; Nnh 57
Navajo Neuropathy; Nn 57

Characteristics:

Orphanet epidemiological data:

59
navajo neurohepatopathy
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
phenotypic variability
early onset (1 month to 4 years)
frequently occurs in navajo children, especially in western reservations
death in the first decade, usually from liver failure
liver disease may be the most predominant finding


HPO:

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


Classifications:



Summaries for Mitochondrial Dna Depletion Syndrome 6

OMIM : 57 Mitochondrial DNA depletion syndrome-6 is an autosomal recessive disorder characterized by infantile onset of progressive liver failure, often leading to death in the first year of life. Those that survive develop progressive neurologic involvement, including ataxia, hypotonia, dystonia, and psychomotor regression (Spinazzola et al., 2008). For a discussion of genetic heterogeneity of autosomal recessive mtDNA depletion syndromes, see MTDPS1 (603041). (256810)

MalaCards based summary : Mitochondrial Dna Depletion Syndrome 6, also known as navajo neurohepatopathy, is related to mpv17-related hepatocerebral mitochondrial dna depletion syndrome and mpv17-related mitochondrial dna maintenance defect, and has symptoms including ataxia, diarrhea and vomiting. An important gene associated with Mitochondrial Dna Depletion Syndrome 6 is MPV17 (MPV17, Mitochondrial Inner Membrane Protein). Affiliated tissues include liver and brain, and related phenotypes are nystagmus and ataxia

UniProtKB/Swiss-Prot : 75 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:

# Related Disease Score Top Affiliating Genes
1 mpv17-related hepatocerebral mitochondrial dna depletion syndrome 11.4
2 mpv17-related mitochondrial dna maintenance defect 11.3
3 autoinflammation, lipodystrophy, and dermatosis syndrome 11.1

Symptoms & Phenotypes for Mitochondrial Dna Depletion Syndrome 6

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
nystagmus
corneal ulcerations

Growth Other:
failure to thrive

Growth Height:
short stature

Metabolic Features:
hypoglycemia
lactic acidosis

Laboratory Abnormalities:
elevated liver enzymes
increased total and conjugated bilirubin

Growth Weight:
poor weight gain

Skeletal Feet:
acral ulceration and osteomyelitis leading to autoamputation

Immunology:
systemic infections

Neurologic Central Nervous System:
ataxia
dystonia
developmental delay
hypotonia
progressive white matter lesions in the brain

Abdomen Liver:
hepatomegaly
cirrhosis
cholestasis
acute hepatic failure
microvesicular steatosis
more
Abdomen Gastrointestinal:
vomiting
diarrhea

Neurologic Peripheral Nervous System:
areflexia
hyporeflexia
pain insensitivity
muscle weakness, distal
progressive sensorimotor neuropathy
more
Skeletal:
painless fractures due to injury

Skeletal Hands:
acral ulceration and osteomyelitis leading to autoamputation

Skin Nails Hair Skin:
neonatal jaundice


Clinical features from OMIM:

256810

Human phenotypes related to Mitochondrial Dna Depletion Syndrome 6:

32 (show all 32)
# Description HPO Frequency HPO Source Accession
1 nystagmus 32 HP:0000639
2 ataxia 32 HP:0001251
3 failure to thrive 32 HP:0001508
4 global developmental delay 32 HP:0001263
5 hepatomegaly 32 HP:0002240
6 short stature 32 HP:0004322
7 vomiting 32 HP:0002013
8 hypoglycemia 32 HP:0001943
9 elevated hepatic transaminases 32 HP:0002910
10 cirrhosis 32 HP:0001394
11 abnormality of the foot 32 HP:0001760
12 dystonia 32 HP:0001332
13 lactic acidosis 32 HP:0003128
14 abnormality of the immune system 32 HP:0002715
15 areflexia 32 HP:0001284
16 diarrhea 32 HP:0002014
17 acute hepatic failure 32 HP:0006554
18 hyporeflexia 32 HP:0001265
19 prolonged neonatal jaundice 32 HP:0006579
20 sensorimotor neuropathy 32 HP:0007141
21 distal muscle weakness 32 HP:0002460
22 generalized hypotonia 32 HP:0001290
23 increased susceptibility to fractures 32 HP:0002659
24 decreased number of peripheral myelinated nerve fibers 32 HP:0003380
25 pain insensitivity 32 HP:0007021
26 microvesicular hepatic steatosis 32 HP:0001414
27 macrovesicular hepatic steatosis 32 HP:0001403
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 reye syndrome-like episodes 32 HP:0006582
32 acral ulceration and osteomyelitis leading to autoamputation of digits 32 HP:0001226

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:

# Genetic test Affiliating Genes
1 Navajo Neurohepatopathy 29 MPV17

Anatomical Context for Mitochondrial Dna Depletion Syndrome 6

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

41
Liver, Brain

Publications for Mitochondrial Dna Depletion Syndrome 6

Articles related to Mitochondrial Dna Depletion Syndrome 6:

# Title Authors Year
1
Navajo neurohepatopathy is caused by a mutation in the MPV17 gene. ( 16909392 )
2006
2
Navajo neurohepatopathy: a mitochondrial DNA depletion syndrome? ( 11431741 )
2001

Variations for Mitochondrial Dna Depletion Syndrome 6

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

75
# 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 top 50) (show all 61)
# 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.149G> A (p.Arg50Gln) single nucleotide variant Pathogenic rs121909721 GRCh38 Chromosome 2, 27313031: 27313031
3 MPV17 NM_002437.4(MPV17): c.498C> A (p.Asn166Lys) single nucleotide variant Pathogenic rs121909722 GRCh37 Chromosome 2, 27532813: 27532813
4 MPV17 NM_002437.4(MPV17): c.498C> A (p.Asn166Lys) single nucleotide variant Pathogenic rs121909722 GRCh38 Chromosome 2, 27309945: 27309945
5 MPV17 NM_002437.4(MPV17): c.148C> T (p.Arg50Trp) single nucleotide variant Pathogenic rs121909723 GRCh37 Chromosome 2, 27535899: 27535899
6 MPV17 NM_002437.4(MPV17): c.148C> T (p.Arg50Trp) single nucleotide variant Pathogenic rs121909723 GRCh38 Chromosome 2, 27313032: 27313032
7 MPV17 MPV17, 26-BP DEL, NT116 deletion Pathogenic
8 MPV17 NM_002437.4(MPV17): c.359G> A (p.Trp120Ter) single nucleotide variant Pathogenic rs121909724 GRCh37 Chromosome 2, 27535377: 27535377
9 MPV17 NM_002437.4(MPV17): c.359G> A (p.Trp120Ter) single nucleotide variant Pathogenic rs121909724 GRCh38 Chromosome 2, 27312510: 27312510
10 MPV17 NM_002437.4(MPV17): c.70G> T (p.Gly24Trp) single nucleotide variant Pathogenic rs121909725 GRCh37 Chromosome 2, 27545315: 27545315
11 MPV17 NM_002437.4(MPV17): c.70G> T (p.Gly24Trp) single nucleotide variant Pathogenic rs121909725 GRCh38 Chromosome 2, 27322448: 27322448
12 MPV17 NM_002437.4(MPV17): c.462-904_*601del1575insGCCTG indel Pathogenic GRCh37 Chromosome 2, 27532179: 27533753
13 MPV17 NM_002437.4(MPV17): c.462-904_*601del1575insGCCTG indel Pathogenic GRCh38 Chromosome 2, 27309311: 27310885
14 MPV17 NM_002437.4(MPV17): c.22_23insC (p.Gln8Profs) insertion Pathogenic rs267607266 GRCh37 Chromosome 2, 27545363: 27545363
15 MPV17 NM_002437.4(MPV17): c.234_242delTGGCACCAC (p.Gly79_Thr81del) deletion Pathogenic rs267607262 GRCh38 Chromosome 2, 27312717: 27312725
16 MPV17 NM_002437.4(MPV17): c.206G> A (p.Trp69Ter) single nucleotide variant Pathogenic rs267607261 GRCh37 Chromosome 2, 27535620: 27535620
17 MPV17 NM_002437.4(MPV17): c.206G> A (p.Trp69Ter) single nucleotide variant Pathogenic rs267607261 GRCh38 Chromosome 2, 27312753: 27312753
18 MPV17 NM_002437.4(MPV17): c.22_23insC (p.Gln8Profs) insertion Pathogenic rs267607266 GRCh38 Chromosome 2, 27322496: 27322496
19 MPV17 NM_002437.4(MPV17): c.234_242delTGGCACCAC (p.Gly79_Thr81del) deletion Pathogenic rs267607262 GRCh37 Chromosome 2, 27535584: 27535592
20 MPV17 NM_002437.4(MPV17): c.116_141del26 (p.Arg41Profs) deletion Pathogenic rs397507438 GRCh37 Chromosome 2, 27535906: 27535931
21 MPV17 NM_002437.4(MPV17): c.116_141del26 (p.Arg41Profs) deletion Pathogenic rs397507438 GRCh38 Chromosome 2, 27313039: 27313064
22 MPV17 NM_002437.4(MPV17): c.186+2T> C single nucleotide variant Pathogenic rs147952488 GRCh37 Chromosome 2, 27535859: 27535859
23 MPV17 NM_002437.4(MPV17): c.186+2T> C single nucleotide variant Pathogenic rs147952488 GRCh38 Chromosome 2, 27312992: 27312992
24 MPV17 NM_002437.4(MPV17): c.262A> G (p.Lys88Glu) single nucleotide variant Pathogenic rs267607256 GRCh37 Chromosome 2, 27535564: 27535564
25 MPV17 NM_002437.4(MPV17): c.262A> G (p.Lys88Glu) single nucleotide variant Pathogenic rs267607256 GRCh38 Chromosome 2, 27312697: 27312697
26 MPV17 NM_002437.4(MPV17): c.263_265delAGA (p.Lys88del) deletion Likely pathogenic rs267607263 GRCh37 Chromosome 2, 27535561: 27535563
27 MPV17 NM_002437.4(MPV17): c.263_265delAGA (p.Lys88del) deletion Likely pathogenic rs267607263 GRCh38 Chromosome 2, 27312694: 27312696
28 MPV17 NM_002437.4(MPV17): c.280G> C (p.Gly94Arg) single nucleotide variant Pathogenic rs267607257 GRCh37 Chromosome 2, 27535456: 27535456
29 MPV17 NM_002437.4(MPV17): c.280G> C (p.Gly94Arg) single nucleotide variant Pathogenic rs267607257 GRCh38 Chromosome 2, 27312589: 27312589
30 MPV17 NM_002437.4(MPV17): c.293C> T (p.Pro98Leu) single nucleotide variant Pathogenic rs267607258 GRCh37 Chromosome 2, 27535443: 27535443
31 MPV17 NM_002437.4(MPV17): c.293C> T (p.Pro98Leu) single nucleotide variant Pathogenic rs267607258 GRCh38 Chromosome 2, 27312576: 27312576
32 MPV17 NM_002437.4(MPV17): c.485C> A (p.Ala162Asp) single nucleotide variant Pathogenic rs267607259 GRCh37 Chromosome 2, 27532826: 27532826
33 MPV17 NM_002437.4(MPV17): c.485C> A (p.Ala162Asp) single nucleotide variant Pathogenic rs267607259 GRCh38 Chromosome 2, 27309958: 27309958
34 MPV17 NM_002437.4(MPV17): c.509C> T (p.Ser170Phe) single nucleotide variant Pathogenic rs267607260 GRCh37 Chromosome 2, 27532802: 27532802
35 MPV17 NM_002437.4(MPV17): c.509C> T (p.Ser170Phe) single nucleotide variant Pathogenic rs267607260 GRCh38 Chromosome 2, 27309934: 27309934
36 MPV17 NM_002437.4(MPV17): c.70+5G> A single nucleotide variant Pathogenic rs267607268 GRCh37 Chromosome 2, 27545310: 27545310
37 MPV17 NM_002437.4(MPV17): c.70+5G> A single nucleotide variant Pathogenic rs267607268 GRCh38 Chromosome 2, 27322443: 27322443
38 MPV17 NM_002437.4(MPV17): c.106C> T (p.Gln36Ter) single nucleotide variant Pathogenic rs754051090 GRCh38 Chromosome 2, 27313074: 27313074
39 MPV17 NM_002437.4(MPV17): c.106C> T (p.Gln36Ter) single nucleotide variant Pathogenic rs754051090 GRCh37 Chromosome 2, 27535941: 27535941
40 MPV17 NM_002437.4(MPV17): c.409-1G> C single nucleotide variant Pathogenic rs886044280 GRCh37 Chromosome 2, 27534820: 27534820
41 MPV17 NM_002437.4(MPV17): c.409-1G> C single nucleotide variant Pathogenic rs886044280 GRCh38 Chromosome 2, 27311952: 27311952
42 MPV17 NM_002437.4(MPV17): c.284dupG (p.Phe96Leufs) duplication Pathogenic rs766160589 GRCh37 Chromosome 2, 27535452: 27535452
43 MPV17 NM_002437.4(MPV17): c.284dupG (p.Phe96Leufs) duplication Pathogenic rs766160589 GRCh38 Chromosome 2, 27312585: 27312585
44 MPV17 NM_002437.4(MPV17): c.191C> G (p.Pro64Arg) single nucleotide variant Pathogenic/Likely pathogenic rs375401970 GRCh37 Chromosome 2, 27535635: 27535635
45 MPV17 NM_002437.4(MPV17): c.191C> G (p.Pro64Arg) single nucleotide variant Pathogenic/Likely pathogenic rs375401970 GRCh38 Chromosome 2, 27312768: 27312768
46 MPV17 NM_002437.4(MPV17): c.461G> T (p.Arg154Met) single nucleotide variant Likely pathogenic rs886044113 GRCh38 Chromosome 2, 27311899: 27311899
47 MPV17 NM_002437.4(MPV17): c.461G> T (p.Arg154Met) single nucleotide variant Likely pathogenic rs886044113 GRCh37 Chromosome 2, 27534767: 27534767
48 MPV17 NM_002437.4(MPV17): c.376-1G> A single nucleotide variant Pathogenic GRCh37 Chromosome 2, 27535115: 27535115
49 MPV17 NM_002437.4(MPV17): c.376-1G> A single nucleotide variant Pathogenic GRCh38 Chromosome 2, 27312247: 27312247
50 MPV17 NM_002437.4(MPV17): c.376-2A> C single nucleotide variant Pathogenic rs113055360 GRCh37 Chromosome 2, 27535116: 27535116

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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