MTDPS6
MCID: MTC058
MIFTS: 47

Mitochondrial Dna Depletion Syndrome 6 (MTDPS6)

Categories: Bone diseases, Cardiovascular diseases, Eye diseases, Gastrointestinal diseases, Genetic diseases, Liver diseases, Metabolic diseases, Muscle diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Respiratory 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 20 43 72 13 15
Navajo Neurohepatopathy 57 12 20 43 58 72 29 6 44 70
Navajo Neuropathy 57 20 43 58 72
Mtdps6 57 20 43 72
Mpv17-Related Hepatocerebral Mitochondrial Dna Depletion Syndrome 12 20 43
Navajo Familial Neurogenic Arthropathy 43 72 70
Nnh 57 43 72
Nn 57 20 72
Mitochondrial Dna Depletion 6 Hepatocerebral Type 72
Mitochondrial Dna Depletion Syndrome , Type 6 39
Mitochondrial Dna Depletion Syndrome Type 6 6
Mpv17-Associated Hepatocerebral Mds 43
Navajo Neurohepatopathy; Nnh 57
Navajo Neuropathy; Nn 57

Characteristics:

Orphanet epidemiological data:

58
navajo neurohepatopathy
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM®:

57 (Updated 05-Apr-2021)
Miscellaneous:
phenotypic variability
progressive disorder
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

Inheritance:
autosomal recessive


HPO:

31
mitochondrial dna depletion syndrome 6:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset progressive


Classifications:

Orphanet: 58  
Rare hepatic diseases
Inborn errors of metabolism


Summaries for Mitochondrial Dna Depletion Syndrome 6

MedlinePlus Genetics : 43 MPV17-related hepatocerebral mitochondrial DNA depletion syndrome is an inherited disorder that can cause liver disease and neurological problems. The signs and symptoms of this condition begin in infancy and typically include vomiting, diarrhea, and an inability to grow or gain weight at the expected rate (failure to thrive). Many affected infants have a buildup of a chemical called lactic acid in the body (lactic acidosis) and low blood sugar (hypoglycemia). Within the first weeks of life, infants develop liver disease that quickly progresses to liver failure. The liver is frequently enlarged (hepatomegaly) and liver cells often have a reduced ability to release a digestive fluid called bile (cholestasis). Rarely, affected children develop liver cancer. After the onset of liver disease, many affected infants develop neurological problems, which can include developmental delay, weak muscle tone (hypotonia), and reduced sensation in the limbs (peripheral neuropathy). Individuals with MPV17-related hepatocerebral mitochondrial DNA depletion syndrome typically survive only into infancy or early childhood.MPV17-related hepatocerebral mitochondrial DNA depletion syndrome is most frequently seen in the Navajo population of the southwestern United States. In this population, the condition is known as Navajo neurohepatopathy. People with Navajo neurohepatopathy tend to have a longer life expectancy than those with MPV17-related hepatocerebral mitochondrial DNA depletion syndrome. In addition to the signs and symptoms described above, people with Navajo neurohepatopathy may have problems with sensing pain that can lead to painless bone fractures and self-mutilation of the fingers or toes. Individuals with Navajo neurohepatopathy may lack feeling in the clear front covering of the eye (corneal anesthesia), which can lead to open sores and scarring on the cornea, resulting in impaired vision. The cause of these additional features is unknown.

MalaCards based summary : Mitochondrial Dna Depletion Syndrome 6, also known as navajo neurohepatopathy, is related to metabolic acidosis and mitochondrial dna depletion syndrome, and has symptoms including ataxia, vomiting and diarrhea. An important gene associated with Mitochondrial Dna Depletion Syndrome 6 is MPV17 (Mitochondrial Inner Membrane Protein MPV17), and among its related pathways/superpathways are Propanoate metabolism and Valproic Acid Pathway, Pharmacodynamics. Affiliated tissues include liver, eye and brain, and related phenotypes are failure to thrive and nystagmus

Disease Ontology : 12 A mitochondrial DNA depletion syndrome that is characterized by infantile onset of progressive liver failure, often leading to death in the first year of life, and has material basis in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the mitochondrial inner membrane protein MPV17 gene on chromosome 2p23.

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 255229 Definition A rare, life-threatening, mitochondrial DNA depletion syndrome disease characterized by severe, progressive sensorimotor neuropathy associated with corneal ulceration, scarring or anesthesia, acral mutilation, metabolic and immunologic derangement, and hepatopathy (which can manifest with fulminant hepatic failure, a Reye-like syndrome or indolent progression to liver cirrhosis, depending on clinical form involved), present in the Navajo Native American population. Clinical presentation includes failure to thrive, distal limb weakness with reduced sensation, limb contractures with loss of funtion, areflexia, recurrent metabolic acidosis with intercurrent illness, immunologic anomalies manifesting with severe systemic infections, and sexual infantilism.

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) (Updated 05-Apr-2021)

UniProtKB/Swiss-Prot : 72 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 in the Mitochondrial Dna Depletion Syndrome family:

Mitochondrial Dna Depletion Syndrome 4a Mitochondrial Dna Depletion Syndrome 9
Mitochondrial Dna Depletion Syndrome 3 Mitochondrial Dna Depletion Syndrome 6
Mitochondrial Dna Depletion Syndrome 7 Mitochondrial Dna Depletion Syndrome 1
Mitochondrial Dna Depletion Syndrome 2 Mitochondrial Dna Depletion Syndrome 5
Mitochondrial Dna Depletion Syndrome 8a Mitochondrial Dna Depletion Syndrome 4b
Mitochondrial Dna Depletion Syndrome 11 Mitochondrial Dna Depletion Syndrome 12b , Autosomal Recessive
Mitochondrial Dna Depletion Syndrome 13 Mitochondrial Dna Depletion Syndrome 14
Mitochondrial Dna Depletion Syndrome 15 Mitochondrial Dna Depletion Syndrome 12a , Autosomal Dominant
Mitochondrial Dna Depletion Syndrome 16 Mitochondrial Dna Depletion Syndrome 17
Mitochondrial Dna Depletion Syndrome 18 Mitochondrial Dna Depletion Syndrome 19
Mitochondrial Dna Depletion Syndrome 12a Mitochondrial Dna Depletion Syndrome 12b
Mitochondrial Dna Deletion Syndromes Multiple Mitochondrial Dna Deletion Syndrome

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

(show top 50) (show all 64)
# Related Disease Score Top Affiliating Genes
1 metabolic acidosis 30.0 RRM2B POLG2 MPV17
2 mitochondrial dna depletion syndrome 28.4 TWNK SUCLG1 SUCLA2 RRM2B POLG2 POLG
3 mpv17-related mitochondrial dna maintenance defect 11.4
4 neurogenic arthropathy 10.3
5 arthropathy 10.3
6 autosomal recessive disease 10.3
7 anhidrosis 10.2
8 polg-related disorders 10.1 TWNK POLG
9 infantile cerebellar-retinal degeneration 10.1 SUCLG1 SUCLA2
10 myotonic cataract 10.1 TWNK POLG
11 ataxia neuropathy spectrum 10.1 TWNK POLG
12 gracile syndrome 10.1 MPV17 IMMT DGUOK
13 liver disease 10.1
14 peripheral nervous system disease 10.1
15 neuropathy 10.1
16 camptocormism 10.1 RRM2B POLG
17 mitochondrial complex iii deficiency, nuclear type 2 10.1 TWNK POLG
18 mitochondrial dna depletion syndrome 1 10.1 POLG MPV17
19 dysphagia 10.1 TWNK POLG
20 mitochondrial dna depletion syndrome 9 10.1 SUCLG1 SUCLA2
21 mitochondrial neurogastrointestinal encephalomyopathy 10.1 RRM2B POLG
22 neuropathy, ataxia, and retinitis pigmentosa 10.0 TWNK POLG
23 motor peripheral neuropathy 10.0 POLG MPV17 DGUOK
24 visual cortex disease 10.0 POLG2 POLG
25 visual pathway disease 10.0 POLG2 POLG
26 mitochondrial dna depletion syndrome, encephalomyopathic form 10.0 SUCLG1 SUCLA2 RRM2B
27 optic nerve disease 9.9 TWNK POLG IMMT
28 diabetic polyneuropathy 9.9 TWNK POLG
29 acute liver failure 9.9 POLG2 POLG
30 bilirubin metabolic disorder 9.9
31 3-methylglutaconic aciduria, type iv 9.9 SUCLA2 SERAC1
32 deafness, aminoglycoside-induced 9.9 RRM2B DGUOK
33 non-alcoholic fatty liver disease 9.9
34 cholestasis 9.9
35 axonal neuropathy 9.9 TWNK RRM2B POLG
36 3-methylglutaconic aciduria, type v 9.9 SUCLA2 SERAC1
37 organic acidemia 9.8 SUCLG1 SUCLA2 SERAC1
38 ptosis 9.7 TWNK RRM2B POLG
39 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 9.6 TWNK POLG DGUOK DARS2
40 mitochondrial encephalomyopathy 9.6 TWNK SUCLG1 SUCLA2 POLG DGUOK
41 autosomal dominant progressive external ophthalmoplegia 9.6 TWNK RRM2B POLG2 POLG
42 lactic acidosis 9.6 SUCLG1 RRM2B POLG2 POLG
43 3-methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome 9.6 SUCLA2 SERAC1 POLG MPV17
44 mitochondrial dna maintenance defects 9.6 TWNK POLG2 POLG MPV17 DGUOK
45 mohr-tranebjaerg syndrome 9.6 SUCLA2 SERAC1
46 mitochondrial dna depletion syndrome 3 9.6 TWNK POLG2 POLG MPV17 DGUOK
47 myopathy 9.5 TWNK RRM2B POLG2 POLG DGUOK
48 ocular motility disease 9.5 TWNK RRM2B POLG2 POLG DGUOK
49 mitochondrial disorders 9.5 TWNK RRM2B POLG2 POLG DGUOK
50 pearson marrow-pancreas syndrome 9.4 TWNK SUCLG1 RRM2B POLG MPV17 DGUOK

Graphical network of the top 20 diseases related to Mitochondrial Dna Depletion Syndrome 6:



Diseases related to Mitochondrial Dna Depletion Syndrome 6

Symptoms & Phenotypes for Mitochondrial Dna Depletion Syndrome 6

Human phenotypes related to Mitochondrial Dna Depletion Syndrome 6:

31 (show all 31)
# Description HPO Frequency HPO Source Accession
1 failure to thrive 31 HP:0001508
2 nystagmus 31 HP:0000639
3 ataxia 31 HP:0001251
4 global developmental delay 31 HP:0001263
5 hepatomegaly 31 HP:0002240
6 short stature 31 HP:0004322
7 vomiting 31 HP:0002013
8 hypoglycemia 31 HP:0001943
9 elevated hepatic transaminase 31 HP:0002910
10 cirrhosis 31 HP:0001394
11 abnormality of the immune system 31 HP:0002715
12 areflexia 31 HP:0001284
13 dystonia 31 HP:0001332
14 hyporeflexia 31 HP:0001265
15 prolonged neonatal jaundice 31 HP:0006579
16 lactic acidosis 31 HP:0003128
17 diarrhea 31 HP:0002014
18 increased susceptibility to fractures 31 HP:0002659
19 generalized hypotonia 31 HP:0001290
20 distal muscle weakness 31 HP:0002460
21 acute hepatic failure 31 HP:0006554
22 pain insensitivity 31 HP:0007021
23 painless fractures due to injury 31 HP:0002661
24 recurrent corneal erosions 31 HP:0000495
25 sensorimotor neuropathy 31 HP:0007141
26 microvesicular hepatic steatosis 31 HP:0001414
27 macrovesicular hepatic steatosis 31 HP:0001403
28 decreased number of peripheral myelinated nerve fibers 31 HP:0003380
29 reye syndrome-like episodes 31 HP:0006582
30 acral ulceration 31 HP:0006121
31 osteomyelitis leading to amputation due to slow healing fractures 31 HP:0005010

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Growth Other:
failure to thrive

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

Growth Height:
short stature

Metabolic Features:
hypoglycemia
lactic acidosis

Skeletal:
painless fractures due to injury

Growth Weight:
poor weight gain

Skeletal Feet:
acral ulceration and osteomyelitis leading to autoamputation

Immunology:
systemic infections

Head And Neck Eyes:
nystagmus
corneal ulcerations

Abdomen Liver:
hepatomegaly
cirrhosis
cholestasis
acute hepatic failure
reye syndrome-like episodes
more
Abdomen Gastrointestinal:
vomiting
diarrhea

Neurologic Peripheral Nervous System:
areflexia
hyporeflexia
pain insensitivity
muscle weakness, distal
progressive sensorimotor neuropathy
more
Laboratory Abnormalities:
elevated liver enzymes
increased total and conjugated bilirubin

Skeletal Hands:
acral ulceration and osteomyelitis leading to autoamputation

Skin Nails Hair Skin:
neonatal jaundice

Clinical features from OMIM®:

256810 (Updated 05-Apr-2021)

UMLS symptoms related to Mitochondrial Dna Depletion Syndrome 6:


ataxia; vomiting; diarrhea

MGI Mouse Phenotypes related to Mitochondrial Dna Depletion Syndrome 6:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.28 DARS2 DGUOK MPV17 POLG POLG2 RRM2B

Drugs & Therapeutics for Mitochondrial Dna Depletion Syndrome 6

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

Cochrane evidence based reviews: navajo neurohepatopathy

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:

40
Liver, Eye, Brain

Publications for Mitochondrial Dna Depletion Syndrome 6

Articles related to Mitochondrial Dna Depletion Syndrome 6:

(show all 35)
# Title Authors PMID Year
1
MPV17-related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects. 6 61 57
29282788 2018
2
Navajo neurohepatopathy is caused by a mutation in the MPV17 gene. 57 61 6
16909392 2006
3
Hepatocerebral form of mitochondrial DNA depletion syndrome: novel MPV17 mutations. 57 6
18695062 2008
4
MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion. 57 6
16582910 2006
5
MPV17-associated hepatocerebral mitochondrial DNA depletion syndrome: new patients and novel mutations. 61 6
20074988 2010
6
Navajo neurohepatopathy: a mitochondrial DNA depletion syndrome? 61 57
11431741 2001
7
Liver disease in Navajo neuropathy. 61 57
10518083 1999
8
Clinical utility of a targeted next generation sequencing panel in severe and pediatric onset Mendelian diseases. 6
31319225 2019
9
Nucleotide pools dictate the identity and frequency of ribonucleotide incorporation in mitochondrial DNA. 6
28207748 2017
10
MPV17 mutations in patients with hepatocerebral mitochondrial DNA depletion syndrome. 6
27536553 2016
11
A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies. 6
26741492 2016
12
The Human Mitochondrial DNA Depletion Syndrome Gene MPV17 Encodes a Non-selective Channel That Modulates Membrane Potential. 6
25861990 2015
13
Individual exome analysis in diagnosis and management of paediatric liver failure of indeterminate aetiology. 6
25016221 2014
14
Mitochondrial DNA depletion syndrome causing liver failure. 6
25129007 2014
15
Novel c.191C>G (p.Pro64Arg) MPV17 mutation identified in two pairs of unrelated Polish siblings with mitochondrial hepatoencephalopathy. 6
23829229 2014
16
Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene. 6
23714749 2014
17
Adult-Onset Fatal Neurohepatopathy in a Woman Caused by MPV17 Mutation. 6
24190800 2014
18
MPV17 mutation causes neuropathy and leukoencephalopathy with multiple mtDNA deletions in muscle. 6
22508010 2012
19
Fluctuating liver functions in siblings with MPV17 mutations and possible improvement associated with dietary and pharmaceutical treatments targeting respiratory chain complex II. 6
19520594 2009
20
Early-onset liver mtDNA depletion and late-onset proteinuric nephropathy in Mpv17 knockout mice. 57
18818194 2009
21
Double homozygosity for mutations of AGL and SCN9A mimicking neurohepatopathy syndrome. 57
18541889 2008
22
Mutations in the MPV17 gene are responsible for rapidly progressive liver failure in infancy. 6
17694548 2007
23
Southwestern Athabaskan (Navajo and Apache) genetic diseases. 57
11258351 1999
24
Familial sensory autonomic neuropathy with arthropathy in Navajo children. 57
8170555 1993
25
Neuropathy in Navajo children: clinical and epidemiologic features. 57
2300261 1990
26
Acromutilating, paralyzing neuropathy with corneal ulceration in Navajo children. 57
185990 1976
27
Hepatocellular neoplasms arising in genetic metabolic disorders: steatosis is common in both the tumor and background liver. 61
33245984 2021
28
MPV17 mutations in juvenile- and adult-onset axonal sensorimotor polyneuropathy. 61
30298599 2019
29
Navajo Neurohepatopathy : A Case Report and Literature Review Emphasizing Clinicopathologic Diagnosis. 61
28209105 2016
30
MPV17-related hepatocerebral mitochondrial DNA depletion syndrome (MPV17-NNH) revisited. 61
29473055 2016
31
A novel homozygous MPV17 mutation in two families with axonal sensorimotor polyneuropathy. 61
26437932 2015
32
Mitochondrial syndromes with leukoencephalopathies. 61
22422207 2012
33
Hand involvement in Navajo neurohepatopathy: a case report. 61
22654708 2011
34
Lack of founder effect for an identical mtDNA depletion syndrome (MDS)-associated MPV17 mutation shared by Navajos and Italians. 61
18261905 2008
35
Hepatobiliary pathology. 61
17033299 2002

Variations for Mitochondrial Dna Depletion Syndrome 6

ClinVar genetic disease variations for Mitochondrial Dna Depletion Syndrome 6:

6 (show top 50) (show all 76)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MPV17 NM_002437.5(MPV17):c.149G>A (p.Arg50Gln) SNV Pathogenic 16160 rs121909721 GRCh37: 2:27535898-27535898
GRCh38: 2:27313031-27313031
2 MPV17 NM_002437.5(MPV17):c.498C>A (p.Asn166Lys) SNV Pathogenic 16161 rs121909722 GRCh37: 2:27532813-27532813
GRCh38: 2:27309945-27309945
3 MPV17 MPV17, 26-BP DEL, NT116 Deletion Pathogenic 16163 GRCh37:
GRCh38:
4 MPV17 NM_002437.5(MPV17):c.22dup (p.Gln8fs) Duplication Pathogenic 38349 rs267607266 GRCh37: 2:27545362-27545363
GRCh38: 2:27322495-27322496
5 MPV17 NM_002437.5(MPV17):c.262A>G (p.Lys88Glu) SNV Pathogenic 38351 rs267607256 GRCh37: 2:27535564-27535564
GRCh38: 2:27312697-27312697
6 MPV17 NM_002437.5(MPV17):c.70+5G>A SNV Pathogenic 38359 rs267607268 GRCh37: 2:27545310-27545310
GRCh38: 2:27322443-27322443
7 MPV17 NM_002437.5(MPV17):c.280G>C (p.Gly94Arg) SNV Pathogenic 38354 rs267607257 GRCh37: 2:27535456-27535456
GRCh38: 2:27312589-27312589
8 MPV17 NM_002437.5(MPV17):c.485C>A (p.Ala162Asp) SNV Pathogenic 38357 rs267607259 GRCh37: 2:27532826-27532826
GRCh38: 2:27309958-27309958
9 MPV17 NM_002437.5(MPV17):c.106C>T (p.Gln36Ter) SNV Pathogenic 242902 rs754051090 GRCh37: 2:27535941-27535941
GRCh38: 2:27313074-27313074
10 MPV17 NM_002437.5(MPV17):c.293del (p.Pro98fs) Deletion Pathogenic 522374 rs1553383480 GRCh37: 2:27535443-27535443
GRCh38: 2:27312576-27312576
11 MPV17 NM_002437.5(MPV17):c.376-2A>C SNV Pathogenic 522375 rs113055360 GRCh37: 2:27535116-27535116
GRCh38: 2:27312248-27312248
12 MPV17 NM_002437.5(MPV17):c.376-1G>A SNV Pathogenic 522376 rs1423840146 GRCh37: 2:27535115-27535115
GRCh38: 2:27312247-27312247
13 MPV17 NM_002437.4(MPV17):c.71-2_79delins4 Indel Pathogenic 522377 GRCh37: 2:27535968-27535978
GRCh38: 2:27313101-27313111
14 MPV17 NM_002437.5(MPV17):c.414dup (p.Pro139fs) Duplication Pathogenic 635346 rs1572542092 GRCh37: 2:27534813-27534814
GRCh38: 2:27311945-27311946
15 MPV17 NM_002437.5(MPV17):c.279+1G>T SNV Pathogenic 691983 rs1572543564 GRCh37: 2:27535546-27535546
GRCh38: 2:27312679-27312679
16 MPV17 NM_002437.5(MPV17):c.148C>T (p.Arg50Trp) SNV Pathogenic 16162 rs121909723 GRCh37: 2:27535899-27535899
GRCh38: 2:27313032-27313032
17 MPV17 NM_002437.5(MPV17):c.186+2T>C SNV Pathogenic 38347 rs147952488 GRCh37: 2:27535859-27535859
GRCh38: 2:27312992-27312992
18 MPV17 NM_002437.5(MPV17):c.277C>T (p.Gln93Ter) SNV Pathogenic 987742 GRCh37: 2:27535549-27535549
GRCh38: 2:27312682-27312682
19 MPV17 NG_008075.1(MPV17):g.16680_18253delinsCCTG Indel Pathogenic 16166 GRCh37: 2:27532179-27533752
GRCh38: 2:27309311-27310884
20 MPV17 NM_002437.5(MPV17):c.122_147del (p.Arg41fs) Deletion Pathogenic 38346 rs397507438 GRCh37: 2:27535900-27535925
GRCh38: 2:27313033-27313058
21 MPV17 NM_002437.5(MPV17):c.293C>T (p.Pro98Leu) SNV Pathogenic 38355 rs267607258 GRCh37: 2:27535443-27535443
GRCh38: 2:27312576-27312576
22 MPV17 NM_002437.5(MPV17):c.280-1dup Duplication Pathogenic 290443 rs766160589 GRCh37: 2:27535451-27535452
GRCh38: 2:27312584-27312585
23 MPV17 NM_002437.5(MPV17):c.293C>T (p.Pro98Leu) SNV Pathogenic 38355 rs267607258 GRCh37: 2:27535443-27535443
GRCh38: 2:27312576-27312576
24 MPV17 NM_002437.5(MPV17):c.408+1G>A SNV Likely pathogenic 424255 rs749361266 GRCh37: 2:27535081-27535081
GRCh38: 2:27312213-27312213
25 MPV17 NM_002437.5(MPV17):c.278A>C (p.Gln93Pro) SNV Likely pathogenic 694362 rs200938111 GRCh37: 2:27535548-27535548
GRCh38: 2:27312681-27312681
26 MPV17 NM_002437.5(MPV17):c.191C>G (p.Pro64Arg) SNV Likely pathogenic 381523 rs375401970 GRCh37: 2:27535635-27535635
GRCh38: 2:27312768-27312768
27 MPV17 NM_002437.5(MPV17):c.260_262AGA[1] (p.Lys88del) Microsatellite Likely pathogenic 38352 rs267607263 GRCh37: 2:27535561-27535563
GRCh38: 2:27312694-27312696
28 MPV17 NM_002437.5(MPV17):c.130C>T (p.Gln44Ter) SNV Likely pathogenic 694365 rs772370243 GRCh37: 2:27535917-27535917
GRCh38: 2:27313050-27313050
29 MPV17 NM_002437.5(MPV17):c.461G>T (p.Arg154Met) SNV Likely pathogenic 418311 rs886044113 GRCh37: 2:27534767-27534767
GRCh38: 2:27311899-27311899
30 MPV17 NM_002437.5(MPV17):c.135del (p.Glu45fs) Deletion Likely pathogenic 214662 rs777604559 GRCh37: 2:27535912-27535912
GRCh38: 2:27313045-27313045
31 MPV17 NM_002437.5(MPV17):c.375G>A (p.Arg125=) SNV Likely pathogenic 418309 rs1064793178 GRCh37: 2:27535361-27535361
GRCh38: 2:27312494-27312494
32 MPV17 NM_002437.5(MPV17):c.121C>T (p.Arg41Trp) SNV Likely pathogenic 214660 rs863224072 GRCh37: 2:27535926-27535926
GRCh38: 2:27313059-27313059
33 MPV17 NM_002437.5(MPV17):c.408T>G (p.Tyr136Ter) SNV Likely pathogenic 694367 rs1572542511 GRCh37: 2:27535082-27535082
GRCh38: 2:27312214-27312214
34 MPV17 NM_002437.5(MPV17):c.67G>C (p.Ala23Pro) SNV Likely pathogenic 694361 rs1572555080 GRCh37: 2:27545318-27545318
GRCh38: 2:27322451-27322451
35 MPV17 NM_002437.5(MPV17):c.275A>G (p.Asp92Gly) SNV Likely pathogenic 522371 rs1057524366 GRCh37: 2:27535551-27535551
GRCh38: 2:27312684-27312684
36 MPV17 NM_002437.5(MPV17):c.206G>A (p.Trp69Ter) SNV Likely pathogenic 38348 rs267607261 GRCh37: 2:27535620-27535620
GRCh38: 2:27312753-27312753
37 MPV17 NM_002437.5(MPV17):c.297T>A (p.Cys99Ter) SNV Likely pathogenic 522373 rs1553383467 GRCh37: 2:27535439-27535439
GRCh38: 2:27312572-27312572
38 MPV17 NM_002437.5(MPV17):c.509C>T (p.Ser170Phe) SNV Likely pathogenic 38358 rs267607260 GRCh37: 2:27532802-27532802
GRCh38: 2:27309934-27309934
39 MPV17 NM_002437.5(MPV17):c.268_270TTG[1] (p.Leu91del) Microsatellite Likely pathogenic 38353 rs267607264 GRCh37: 2:27535553-27535555
GRCh38: 2:27312686-27312688
40 MPV17 NM_002437.5(MPV17):c.359G>A (p.Trp120Ter) SNV Likely pathogenic 16164 rs121909724 GRCh37: 2:27535377-27535377
GRCh38: 2:27312510-27312510
41 MPV17 NM_002437.5(MPV17):c.70G>T (p.Gly24Trp) SNV Uncertain significance 16165 rs121909725 GRCh37: 2:27545315-27545315
GRCh38: 2:27322448-27322448
42 MPV17 NM_002437.5(MPV17):c.234_242del (p.Gly79_Thr81del) Deletion Uncertain significance 38350 rs267607262 GRCh37: 2:27535584-27535592
GRCh38: 2:27312717-27312725
43 MPV17 NM_002437.5(MPV17):c.-11G>C SNV Uncertain significance 335529 rs886055898 GRCh37: 2:27545924-27545924
GRCh38: 2:27323057-27323057
44 MPV17 NM_002437.5(MPV17):c.-6+8G>A SNV Uncertain significance 335528 rs886055897 GRCh37: 2:27545911-27545911
GRCh38: 2:27323044-27323044
45 MPV17 NM_002437.5(MPV17):c.*347C>T SNV Uncertain significance 335521 rs144697795 GRCh37: 2:27532433-27532433
GRCh38: 2:27309565-27309565
46 MPV17 NM_002437.5(MPV17):c.*194G>A SNV Uncertain significance 335522 rs886055895 GRCh37: 2:27532586-27532586
GRCh38: 2:27309718-27309718
47 MPV17 NM_002437.5(MPV17):c.*413A>C SNV Uncertain significance 335519 rs575276701 GRCh37: 2:27532367-27532367
GRCh38: 2:27309499-27309499
48 MPV17 NM_002437.5(MPV17):c.*34G>A SNV Uncertain significance 335525 rs147885371 GRCh37: 2:27532746-27532746
GRCh38: 2:27309878-27309878
49 MPV17 NM_002437.5(MPV17):c.373C>T (p.Arg125Trp) SNV Uncertain significance 335526 rs112170670 GRCh37: 2:27535363-27535363
GRCh38: 2:27312496-27312496
50 MPV17 NM_002437.5(MPV17):c.*80C>T SNV Uncertain significance 335524 rs200529035 GRCh37: 2:27532700-27532700
GRCh38: 2:27309832-27309832

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

72 (show all 14)
# 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
8 MPV17 p.Ala23Pro VAR_082227
9 MPV17 p.Arg41Trp VAR_082231 rs863224072
10 MPV17 p.Pro64Arg VAR_082233 rs375401970
11 MPV17 p.Asp92Gly VAR_082237
12 MPV17 p.Gln93Pro VAR_082238
13 MPV17 p.Arg154Met VAR_082243 rs886044113
14 MPV17 p.Ser170Phe VAR_082244 rs267607260

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

Pathways related to Mitochondrial Dna Depletion Syndrome 6 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.69 SUCLG1 SUCLA2
2 10.23 SUCLG1 SUCLA2
3 9.9 RRM2B POLG

GO Terms for Mitochondrial Dna Depletion Syndrome 6

Cellular components related to Mitochondrial Dna Depletion Syndrome 6 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrial nucleoid GO:0042645 9.43 TWNK POLG2 POLG
2 mitochondrial matrix GO:0005759 9.43 TWNK SUCLG1 SUCLA2 POLG2 DGUOK DARS2
3 mitochondrion GO:0005739 9.36 TWNK SUCLG1 SUCLA2 SERAC1 RRM2B POLG2
4 gamma DNA polymerase complex GO:0005760 9.16 POLG2 POLG

Biological processes related to Mitochondrial Dna Depletion Syndrome 6 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA biosynthetic process GO:0071897 9.32 POLG2 POLG
2 tricarboxylic acid cycle GO:0006099 9.26 SUCLG1 SUCLA2
3 DNA replication GO:0006260 9.26 TWNK RRM2B POLG2 POLG
4 DNA-dependent DNA replication GO:0006261 9.16 POLG2 POLG
5 mitochondrial DNA replication GO:0006264 8.92 TWNK RRM2B POLG2 POLG

Molecular functions related to Mitochondrial Dna Depletion Syndrome 6 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ligase activity GO:0016874 9.33 SUCLG1 SUCLA2 DARS2
2 DNA-directed DNA polymerase activity GO:0003887 9.26 POLG2 POLG
3 succinate-CoA ligase (GDP-forming) activity GO:0004776 8.96 SUCLG1 SUCLA2
4 succinate-CoA ligase (ADP-forming) activity GO:0004775 8.62 SUCLG1 SUCLA2

Sources for Mitochondrial Dna Depletion Syndrome 6

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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