MTDPS3
MCID: MTC063
MIFTS: 51

Mitochondrial Dna Depletion Syndrome 3 (MTDPS3)

Categories: Bone diseases, Cardiovascular diseases, Ear diseases, Eye diseases, Gastrointestinal diseases, Genetic diseases, Liver diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Mitochondrial Dna Depletion Syndrome 3

MalaCards integrated aliases for Mitochondrial Dna Depletion Syndrome 3:

Name: Mitochondrial Dna Depletion Syndrome 3 56 12 52 73 13 6 15 71
Deoxyguanosine Kinase Deficiency 12 24 52 25 58 43
Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form Due to Dguok Deficiency 52 58 29 6
Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form 25 58 29 6
Dguok-Related Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form 24 52
Mitochondrial Dna-Depletion Syndrome 3, Hepatocerebral 29 6
Dguok Deficiency 24 52
Mtdps3 56 73
Hepatocerebral Mitochondrial Dna Deletions Syndrome Autosomal Recessive 73
Mitochondrial Dna Depletion Syndrome 3 Hepatocerebral Type 73
Hepatocerebral Mitochondrial Dna Depletion Syndrome 25
Dguok-Related Mitochondrial Dna Depletion Syndrome 25
Mitochondrial Dna Depletion Syndrome , Type 3 39
Mtdna Depletion Syndrome, Hepatocerebral Form 58

Characteristics:

Orphanet epidemiological data:

58
mitochondrial dna depletion syndrome, hepatocerebral form
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;
mitochondrial dna depletion syndrome, hepatocerebral form due to dguok deficiency
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: early childhood;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset as neonate
hepatic failure develops in first months of life
most patients die of hepatic failure by 9 months of age


HPO:

31
mitochondrial dna depletion syndrome 3:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare hepatic diseases
Inborn errors of metabolism


Summaries for Mitochondrial Dna Depletion Syndrome 3

Genetics Home Reference : 25 Deoxyguanosine kinase deficiency is an inherited disorder that can cause liver disease and neurological problems. Researchers have described two forms of this disorder. The majority of affected individuals have the more severe form, which is called hepatocerebral because of the serious problems it causes in the liver and brain. Newborns with the hepatocerebral form of deoxyguanosine kinase deficiency may have a buildup of lactic acid in the body (lactic acidosis) within the first few days after birth. They may also have weakness, behavior changes such as poor feeding and decreased activity, and vomiting. Affected newborns sometimes have low blood sugar (hypoglycemia) as a result of liver dysfunction. During the first few weeks of life they begin showing other signs of liver disease which may result in liver failure. They also develop progressive neurological problems including very weak muscle tone (severe hypotonia), abnormal eye movements (nystagmus) and the loss of skills they had previously acquired (developmental regression). Children with this form of the disorder usually do not survive past the age of 2 years. Some individuals with deoxyguanosine kinase deficiency have a milder form of the disorder without severe neurological problems. Liver disease is the primary symptom of this form of the disorder, generally becoming evident during infancy or childhood. Occasionally it first appears after an illness such as a viral infection. Affected individuals may also develop kidney problems. Mild hypotonia is the only neurological effect associated with this form of the disorder.

MalaCards based summary : Mitochondrial Dna Depletion Syndrome 3, also known as deoxyguanosine kinase deficiency, is related to mitochondrial dna depletion syndrome 6 and mitochondrial disorders, and has symptoms including seizures, vomiting and icterus. An important gene associated with Mitochondrial Dna Depletion Syndrome 3 is DGUOK (Deoxyguanosine Kinase), and among its related pathways/superpathways are Mitochondrial Gene Expression and pyrimidine deoxyribonucleosides degradation. Affiliated tissues include liver, eye and brain, and related phenotypes are splenomegaly and hepatomegaly

Disease Ontology : 12 A mitochondrial DNA depletion syndrome that is characterized by onset in infancy of progressive liver failure and neurologic abnormalities, hypoglycemia, and increased lactate in body fluids, and has material basis in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the deoxyguanosine kinase gene on chromosome 2p13.

OMIM : 56 Mitochondrial DNA depletion syndrome-3 is a severe autosomal recessive disorder characterized by onset in infancy of progressive liver failure and neurologic abnormalities, hypoglycemia, and increased lactate in body fluids. Affected tissues show both decreased activity of the mtDNA-encoded respiratory chain complexes (I, III, IV, and V) and mtDNA depletion (Mandel et al., 2001). For a discussion of genetic heterogeneity of autosomal recessive mtDNA depletion syndromes, see MTDPS1 (603041). (251880)

UniProtKB/Swiss-Prot : 73 Mitochondrial DNA depletion syndrome 3: A disorder due to mitochondrial dysfunction characterized by onset in infancy of progressive liver failure, hypoglycemia, increased lactate in body fluids, and neurologic abnormalities including hypotonia, encephalopathy, peripheral neuropathy. Affected tissues show both decreased activity of the mtDNA-encoded respiratory chain complexes and mtDNA depletion.

GeneReviews: NBK7040

Related Diseases for Mitochondrial Dna Depletion Syndrome 3

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 12a
Mitochondrial Dna Depletion Syndrome 12b Mitochondrial Dna Deletion Syndromes
Multiple Mitochondrial Dna Deletion Syndrome

Diseases related to Mitochondrial Dna Depletion Syndrome 3 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 72)
# Related Disease Score Top Affiliating Genes
1 mitochondrial dna depletion syndrome 6 32.8 TYMP TWNK POLG2 POLG MPV17 DGUOK
2 mitochondrial disorders 30.0 TWNK POLG DGUOK
3 myopathy 28.6 TYMP TWNK TK2 POLG2 POLG DGUOK
4 mitochondrial myopathy 27.8 TYMP TWNK TK2 SSBP1 POLG2 POLG
5 mitochondrial dna depletion syndrome 27.6 TYMP TWNK TK2 SSBP1 SCO2 POLG2
6 mpv17-related mitochondrial dna maintenance defect 12.0
7 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 4 11.7
8 pathologic nystagmus 10.3
9 ataxia neuropathy spectrum 10.3 TWNK POLG
10 polg-related disorders 10.3 TWNK POLG
11 glycogen storage disease 10.3
12 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 1 10.3 TK2 POLG
13 cholestasis 10.2
14 hypotonia 10.2
15 coenzyme q10 deficiency disease 10.2 TK2 POLG
16 hypoglycemia 10.2
17 cystathioninuria 10.2
18 uniparental disomy of chromosome 2 10.2
19 encephalopathy 10.2
20 maternal uniparental disomy 10.2
21 maternal uniparental disomy of chromosome 2 10.2
22 mitochondrial dna depletion syndrome 5 10.1 POLG MPV17 DGUOK
23 3-methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome 10.1 POLG MPV17
24 motor peripheral neuropathy 10.1 POLG MPV17 DGUOK
25 acute liver failure 10.1
26 bilirubin metabolic disorder 10.1
27 cardioencephalomyopathy 10.0 TYMP SCO2
28 prenatal-onset spinal muscular atrophy with congenital bone fractures 10.0 TRIP4 ASCC1
29 diabetic polyneuropathy 10.0 TWNK POLG
30 mental retardation, autosomal dominant 13 10.0 TK2 LAS1L ASCC1
31 congenital contractures 10.0 TRIP4 ASCC1
32 myotonic cataract 10.0 TYMP TWNK POLG
33 hemochromatosis, neonatal 9.9
34 hemochromatosis, type 1 9.9
35 siderosis 9.9
36 lactic acidosis 9.9
37 tyrosinemia 9.9
38 aminoaciduria 9.9
39 visual cortex disease 9.9 POLG2 POLG
40 mitochondrial neurogastrointestinal encephalomyopathy 9.9 TYMP SCO2 POLG
41 polyneuropathy 9.9 TWNK POLG MPV17
42 cranial nerve disease 9.9 TYMP TWNK POLG
43 visual pathway disease 9.9 POLG2 POLG
44 encephalopathy, ethylmalonic 9.9 TYMP MPV17
45 autosomal dominant progressive external ophthalmoplegia 9.9 TWNK POLG2 POLG
46 neuropathy, ataxia, and retinitis pigmentosa 9.7 TYMP TWNK SCO2 POLG
47 myoclonic epilepsy associated with ragged-red fibers 9.7 TYMP TWNK SCO2 POLG
48 axonal neuropathy 9.6 TWNK POLG2 POLG MPV17
49 mitochondrial dna depletion syndrome 8a 9.6 TYMP TEFM
50 lethal congenital contracture syndrome 2 9.6 TRIP4 TK2 LAS1L ASCC1

Graphical network of the top 20 diseases related to Mitochondrial Dna Depletion Syndrome 3:



Diseases related to Mitochondrial Dna Depletion Syndrome 3

Symptoms & Phenotypes for Mitochondrial Dna Depletion Syndrome 3

Human phenotypes related to Mitochondrial Dna Depletion Syndrome 3:

31 (show all 34)
# Description HPO Frequency HPO Source Accession
1 splenomegaly 31 HP:0001744
2 hepatomegaly 31 HP:0002240
3 muscular hypotonia 31 HP:0001252
4 microcephaly 31 HP:0000252
5 feeding difficulties in infancy 31 HP:0008872
6 failure to thrive 31 HP:0001508
7 vomiting 31 HP:0002013
8 portal hypertension 31 HP:0001409
9 hypoglycemia 31 HP:0001943
10 nystagmus 31 HP:0000639
11 hyperreflexia 31 HP:0001347
12 ascites 31 HP:0001541
13 growth delay 31 HP:0001510
14 hepatic steatosis 31 HP:0001397
15 elevated hepatic transaminase 31 HP:0002910
16 thrombocytopenia 31 HP:0001873
17 jaundice 31 HP:0000952
18 hepatic failure 31 HP:0001399
19 hyperbilirubinemia 31 HP:0002904
20 hypoalbuminemia 31 HP:0003073
21 hypothermia 31 HP:0002045
22 encephalopathy 31 HP:0001298
23 lactic acidosis 31 HP:0003128
24 cerebral atrophy 31 HP:0002059
25 decreased activity of mitochondrial respiratory chain 31 HP:0008972
26 polyneuropathy 31 HP:0001271
27 generalized hypotonia 31 HP:0001290
28 generalized aminoaciduria 31 HP:0002909
29 micronodular cirrhosis 31 HP:0001413
30 abnormal conjugate eye movement 31 HP:0000549
31 hepatocellular necrosis 31 HP:0001404
32 periportal fibrosis 31 HP:0001405
33 seizure 31 HP:0001250
34 depletion of mitochondrial dna in liver 31 HP:0006581

Symptoms via clinical synopsis from OMIM:

56
Abdomen Spleen:
splenomegaly

Neurologic Central Nervous System:
seizures
nystagmus
hyperreflexia
encephalopathy
cerebral atrophy
more
Abdomen Gastrointestinal:
vomiting
poor feeding

Metabolic Features:
hypoglycemia
hypothermia
lactic acidosis

Head And Neck Eyes:
nystagmus
disconjugate eye movements
optic dysplasia

Skin Nails Hair Skin:
jaundice

Head And Neck Head:
microcephaly (less common)

Abdomen Liver:
hepatomegaly
jaundice
hepatic failure
cholestasis
hepatocellular necrosis
more
Growth Other:
failure to thrive
poor growth

Abdomen External Features:
portal hypertension
ascites

Neurologic Peripheral Nervous System:
peripheral neuropathy

Hematology:
thrombocytopenia
coagulopathy due to hepatic failure

Laboratory Abnormalities:
hyperbilirubinemia
hypoalbuminemia
generalized aminoaciduria
abnormal liver function tests

Clinical features from OMIM:

251880

UMLS symptoms related to Mitochondrial Dna Depletion Syndrome 3:


seizures, vomiting, icterus

MGI Mouse Phenotypes related to Mitochondrial Dna Depletion Syndrome 3:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.32 ASCC1 MPV17 POLG POLG2 SCO2 SLC25A13

Drugs & Therapeutics for Mitochondrial Dna Depletion Syndrome 3

Search Clinical Trials , NIH Clinical Center for Mitochondrial Dna Depletion Syndrome 3

Cochrane evidence based reviews: deoxyguanosine kinase deficiency

Genetic Tests for Mitochondrial Dna Depletion Syndrome 3

Genetic tests related to Mitochondrial Dna Depletion Syndrome 3:

# Genetic test Affiliating Genes
1 Mitochondrial Dna-Depletion Syndrome 3, Hepatocerebral 29 DGUOK
2 Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form 29
3 Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form Due to Dguok Deficiency 29

Anatomical Context for Mitochondrial Dna Depletion Syndrome 3

MalaCards organs/tissues related to Mitochondrial Dna Depletion Syndrome 3:

40
Liver, Eye, Brain, Kidney, Testes

Publications for Mitochondrial Dna Depletion Syndrome 3

Articles related to Mitochondrial Dna Depletion Syndrome 3:

(show all 41)
# Title Authors PMID Year
1
Kinetic properties of mutant deoxyguanosine kinase in a case of reversible hepatic mtDNA depletion. 24 6 56
17073823 2007
2
Novel mutation in DGUOK in hepatocerebral mitochondrial DNA depletion syndrome associated with cystathioninuria. 56 6 24
15887277 2005
3
Mitochondrial DNA depletion and dGK gene mutations. 6 56
12205643 2002
4
Progressive reversion of clinical and molecular phenotype in a child with liver mitochondrial DNA depletion. 6 56
11983456 2002
5
The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA. 6 56
11687800 2001
6
Recurrent recessive mutation in deoxyguanosine kinase causes idiopathic noncirrhotic portal hypertension. 24 6
26874653 2016
7
Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions. 24 6
23043144 2012
8
Deoxyguanosine Kinase Deficiency 6 61
20301766 2009
9
Mitochondrial DNA Maintenance Defects Overview 6
29517884 2018
10
Long-term outcomes after liver transplantation for deoxyguanosine kinase deficiency: a single-center experience and a review of the literature. 24 61
24478274 2014
11
Recessive deoxyguanosine kinase deficiency causes juvenile onset mitochondrial myopathy. 24 61
22622127 2012
12
Detection of uniparental isodisomy in autosomal recessive mitochondrial DNA depletion syndrome by high-density SNP array analysis. 56
22011815 2011
13
Deoxyguanosine kinase deficiency presenting as neonatal hemochromatosis. 61 24
21478040 2011
14
Post mortem identification of deoxyguanosine kinase (DGUOK) gene mutations combined with impaired glucose homeostasis and iron overload features in four infants with severe progressive liver failure. 24 61
21107780 2011
15
Abnormal neurological features predict poor survival and should preclude liver transplantation in patients with deoxyguanosine kinase deficiency. 61 24
18825706 2008
16
Mitochondrial DNA depletion is a prevalent cause of multiple respiratory chain deficiency in childhood. 6
17452231 2007
17
New DGK gene mutations in the hepatocerebral form of mitochondrial DNA depletion syndrome. 56
15883261 2005
18
A novel mutation in the deoxyguanosine kinase gene causing depletion of mitochondrial DNA. 6
12210798 2002
19
Mitochondrial DNA depletion syndrome is expressed in amniotic fluid cell cultures. 56
10393838 1999
20
Molecular mechanisms in mitochondrial DNA depletion syndrome. 56
9175742 1997
21
Nuclear complementation restores mtDNA levels in cultured cells from a patient with mtDNA depletion. 56
8394647 1993
22
Fatal infantile liver failure associated with mitochondrial DNA depletion. 56
1447652 1992
23
mtDNA depletion with variable tissue expression: a novel genetic abnormality in mitochondrial diseases. 56
1998336 1991
24
Mitochondrial phosphoenolpyruvate carboxykinase deficiency. 56
2044592 1991
25
Mitochondrial cytochrome deficiency presenting as a myopathy with hypotonia, external ophthalmoplegia, and lactic acidosis in an infant and as fatal hepatopathy in a second cousin. 56
6314875 1983
26
Incidence of Primary Mitochondrial Disease in Children Younger Than 2 Years Presenting With Acute Liver Failure. 24
27482763 2016
27
Novel deoxyguanosine kinase gene mutations in the hepatocerebral form of mitochondrial DNA depletion syndrome. 24
24423689 2015
28
Mitochondrial DNA depletion syndromes: review and updates of genetic basis, manifestations, and therapeutic options. 24
23385875 2013
29
Two patients with hepatic mtDNA depletion syndromes and marked elevations of S-adenosylmethionine and methionine. 24
22137549 2012
30
The first founder DGUOK mutation associated with hepatocerebral mitochondrial DNA depletion syndrome. 24
19394258 2009
31
Simultaneous detection of mitochondrial DNA depletion and single-exon deletion in the deoxyguanosine gene using array-based comparative genomic hybridisation. 24
19103789 2009
32
Metabolic interrelations within guanine deoxynucleotide pools for mitochondrial and nuclear DNA maintenance. 24
18417473 2008
33
Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase. 24
18205204 2008
34
Defects in maintenance of mitochondrial DNA are associated with intramitochondrial nucleotide imbalances. 24
17483096 2007
35
Hepatocerebral mitochondrial DNA depletion syndrome caused by deoxyguanosine kinase (DGUOK) mutations. 24
16908739 2006
36
Hyperinsulinaemic hypoglycaemia in deoxyguanosine kinase deficiency. 61
31465631 2019
37
Severe Deoxyguanosine Kinase Deficiency in Austria: A 6-Patient Series. 61
30589726 2019
38
Deoxyguanosine kinase deficiency: a report of four patients. 61
28493820 2017
39
Neonatal liver failure due to deoxyguanosine kinase deficiency. 61
22602837 2012
40
Mitochondrial deoxyribonucleotide pools in deoxyguanosine kinase deficiency. 61
18723380 2008
41
Clinical, biochemical and morphological features of hepatocerebral syndrome with mitochondrial DNA depletion due to deoxyguanosine kinase deficiency. 61
15964659 2005

Variations for Mitochondrial Dna Depletion Syndrome 3

ClinVar genetic disease variations for Mitochondrial Dna Depletion Syndrome 3:

6 (show top 50) (show all 51) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TWNK NM_021830.5(TWNK):c.1370C>T (p.Thr457Ile)SNV Pathogenic 4626 rs80356544 10:102749527-102749527 10:100989770-100989770
2 DGUOK NM_080916.3(DGUOK):c.255del (p.Ala86fs)deletion Pathogenic 8153 rs886037613 2:74166145-74166145 2:73939018-73939018
3 DGUOK NM_080916.3(DGUOK):c.313C>T (p.Arg105Ter)SNV Pathogenic 8154 rs104893630 2:74173903-74173903 2:73946776-73946776
4 DGUOK NM_080916.3(DGUOK):c.763_766dup (p.Phe256Ter)duplication Pathogenic 8155 rs763706988 2:74185326-74185327 2:73958199-73958200
5 DGUOK NM_080916.3(DGUOK):c.609_610del (p.Tyr204fs)deletion Pathogenic 8156 rs886037615 2:74184268-74184269 2:73957141-73957142
6 DGUOK NM_080916.3(DGUOK):c.425G>A (p.Arg142Lys)SNV Pathogenic 8157 rs104893631 2:74174015-74174015 2:73946888-73946888
7 DGUOK NM_080916.3(DGUOK):c.679G>A (p.Glu227Lys)SNV Pathogenic 8158 rs104893632 2:74184339-74184339 2:73957212-73957212
8 DGUOK NM_080916.3(DGUOK):c.763G>T (p.Asp255Tyr)SNV Pathogenic 8159 rs104893633 2:74185328-74185328 2:73958201-73958201
9 DGUOK NM_080916.3(DGUOK):c.749T>C (p.Leu250Ser)SNV Pathogenic 488491 rs749464475 2:74185314-74185314 2:73958187-73958187
10 DGUOK NM_080916.3(DGUOK):c.797T>G (p.Leu266Arg)SNV Pathogenic 253063 rs886037846 2:74185362-74185362 2:73958235-73958235
11 DGUOK NM_080916.3(DGUOK):c.591G>A (p.Gln197=)SNV Pathogenic 214286 rs748597500 2:74177859-74177859 2:73950732-73950732
12 DGUOK NM_080916.3(DGUOK):c.603_604GA[1] (p.Arg202fs)short repeat Pathogenic 214288 rs863223949 2:74184262-74184263 2:73957135-73957136
13 DGUOK NM_080916.3(DGUOK):c.137A>G (p.Asn46Ser)SNV Pathogenic/Likely pathogenic 253062 rs763615602 2:74154174-74154174 2:73927047-73927047
14 TFAM NM_003201.3(TFAM):c.533C>T (p.Pro178Leu)SNV Likely pathogenic 221285 rs757075712 10:60150616-60150616 10:58390856-58390856
15 DGUOK NM_080916.3(DGUOK):c.707+2T>GSNV Likely pathogenic 801725 2:74184369-74184369 2:73957242-73957242
16 DGUOK NM_080916.3(DGUOK):c.287T>C (p.Leu96Pro)SNV Likely pathogenic 135652 rs587780587 2:74173877-74173877 2:73946750-73946750
17 DGUOK NM_080916.3(DGUOK):c.155C>T (p.Ser52Phe)SNV Conflicting interpretations of pathogenicity 488490 rs1204316787 2:74166049-74166049 2:73938922-73938922
18 DGUOK NM_080916.3(DGUOK):c.708-3T>CSNV Conflicting interpretations of pathogenicity 214279 rs370071744 2:74185270-74185270 2:73958143-73958143
19 DGUOK NM_080916.3(DGUOK):c.4G>T (p.Ala2Ser)SNV Conflicting interpretations of pathogenicity 193482 rs147551003 2:74154041-74154041 2:73926914-73926914
20 DGUOK NM_080916.3(DGUOK):c.630G>A (p.Glu210=)SNV Conflicting interpretations of pathogenicity 197867 rs115206553 2:74184290-74184290 2:73957163-73957163
21 DGUOK NM_080916.3(DGUOK):c.705G>A (p.Thr235=)SNV Conflicting interpretations of pathogenicity 337050 rs866403196 2:74184365-74184365 2:73957238-73957238
22 DGUOK NM_080916.3(DGUOK):c.664C>T (p.Leu222=)SNV Conflicting interpretations of pathogenicity 337049 rs375686551 2:74184324-74184324 2:73957197-73957197
23 DGUOK NM_080916.3(DGUOK):c.*120G>ASNV Uncertain significance 337052 rs886056323 2:74185983-74185983 2:73958856-73958856
24 DGUOK NM_080916.3(DGUOK):c.211C>G (p.Pro71Ala)SNV Uncertain significance 208752 rs184770596 2:74166105-74166105 2:73938978-73938978
25 DGUOK NM_080916.3(DGUOK):c.9G>T (p.Ala3=)SNV Uncertain significance 895310 2:74154046-74154046 2:73926919-73926919
26 DGUOK NM_080916.3(DGUOK):c.265G>A (p.Ala89Thr)SNV Uncertain significance 895311 2:74173855-74173855 2:73946728-73946728
27 DGUOK NM_080916.3(DGUOK):c.655C>T (p.Leu219=)SNV Uncertain significance 896732 2:74184315-74184315 2:73957188-73957188
28 DGUOK NM_080916.3(DGUOK):c.684C>G (p.Ala228=)SNV Uncertain significance 897203 2:74184344-74184344 2:73957217-73957217
29 DGUOK NM_080916.3(DGUOK):c.*7C>TSNV Uncertain significance 897204 2:74185870-74185870 2:73958743-73958743
30 DGUOK NM_080916.3(DGUOK):c.492C>T (p.Ile164=)SNV Uncertain significance 559368 rs148915942 2:74177760-74177760 2:73950633-73950633
31 DGUOK NM_080916.3(DGUOK):c.337T>C (p.Phe113Leu)SNV Uncertain significance 289872 rs141810774 2:74173927-74173927 2:73946800-73946800
32 MPV17 NM_002437.5(MPV17):c.*130G>TSNV Uncertain significance 335523 rs886055896 2:27532650-27532650 2:27309782-27309782
33 MPV17 NM_002437.5(MPV17):c.373C>T (p.Arg125Trp)SNV Uncertain significance 335526 rs112170670 2:27535363-27535363 2:27312496-27312496
34 MPV17 NM_002437.5(MPV17):c.*360G>CSNV Uncertain significance 335520 rs866206271 2:27532420-27532420 2:27309552-27309552
35 MPV17 NM_002437.5(MPV17):c.*347C>TSNV Uncertain significance 335521 rs144697795 2:27532433-27532433 2:27309565-27309565
36 MPV17 NM_002437.5(MPV17):c.-11G>CSNV Uncertain significance 335529 rs886055898 2:27545924-27545924 2:27323057-27323057
37 DGUOK NM_080916.3(DGUOK):c.-8T>CSNV Uncertain significance 337043 rs369681767 2:74154030-74154030 2:73926903-73926903
38 DGUOK NM_080916.3(DGUOK):c.-1G>ASNV Uncertain significance 337044 rs754623273 2:74154037-74154037 2:73926910-73926910
39 DGUOK NM_080916.3(DGUOK):c.366G>C (p.Gln122His)SNV Uncertain significance 337046 rs199645258 2:74173956-74173956 2:73946829-73946829
40 MPV17 NM_002437.5(MPV17):c.*413A>CSNV Uncertain significance 335519 rs575276701 2:27532367-27532367 2:27309499-27309499
41 MPV17 NM_002437.5(MPV17):c.*34G>ASNV Uncertain significance 335525 rs147885371 2:27532746-27532746 2:27309878-27309878
42 MPV17 NM_002437.5(MPV17):c.-6+8G>ASNV Uncertain significance 335528 rs886055897 2:27545911-27545911 2:27323044-27323044
43 DGUOK NM_080916.3(DGUOK):c.-21G>TSNV Uncertain significance 337042 rs200333852 2:74154017-74154017 2:73926890-73926890
44 DGUOK NM_080916.3(DGUOK):c.142+1G>TSNV Uncertain significance 337045 rs886056321 2:74154180-74154180 2:73927053-73927053
45 DGUOK NM_080916.3(DGUOK):c.568A>T (p.Ile190Phe)SNV Uncertain significance 337047 rs757043357 2:74177836-74177836 2:73950709-73950709
46 DGUOK NM_080916.3(DGUOK):c.423G>A (p.Glu141=)SNV Benign/Likely benign 137081 rs1804599 2:74174013-74174013 2:73946886-73946886
47 DGUOK NM_080916.3(DGUOK):c.509A>G (p.Gln170Arg)SNV Benign/Likely benign 137082 rs74874677 2:74177777-74177777 2:73950650-73950650
48 DGUOK NM_080916.3(DGUOK):c.123C>G (p.Leu41=)SNV Benign/Likely benign 214283 rs145252858 2:74154160-74154160 2:73927033-73927033
49 DGUOK NM_080916.3(DGUOK):c.*13A>TSNV Benign 137083 rs4777 2:74185876-74185876 2:73958749-73958749
50 DGUOK NM_080916.3(DGUOK):c.*119C>TSNV Benign 897205 2:74185982-74185982 2:73958855-73958855

UniProtKB/Swiss-Prot genetic disease variations for Mitochondrial Dna Depletion Syndrome 3:

73
# Symbol AA change Variation ID SNP ID
1 DGUOK p.Arg142Lys VAR_019417 rs104893631
2 DGUOK p.Glu227Lys VAR_019418 rs104893632
3 DGUOK p.Leu250Ser VAR_023789 rs749464475

Expression for Mitochondrial Dna Depletion Syndrome 3

Search GEO for disease gene expression data for Mitochondrial Dna Depletion Syndrome 3.

Pathways for Mitochondrial Dna Depletion Syndrome 3

GO Terms for Mitochondrial Dna Depletion Syndrome 3

Cellular components related to Mitochondrial Dna Depletion Syndrome 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.85 TWNK TK2 TEFM SSBP1 SLC25A13 SCO2
2 mitochondrial matrix GO:0005759 9.5 TWNK TK2 TEFM SSBP1 SCO2 POLG2
3 gamma DNA polymerase complex GO:0005760 9.26 POLG2 POLG
4 mitochondrial nucleoid GO:0042645 9.02 TWNK TEFM SSBP1 POLG2 POLG

Biological processes related to Mitochondrial Dna Depletion Syndrome 3 according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 mitochondrion organization GO:0007005 9.65 TWNK SSBP1 POLG2
2 DNA metabolic process GO:0006259 9.56 TEFM POLG
3 DNA-dependent DNA replication GO:0006261 9.55 POLG2 POLG
4 mitochondrion morphogenesis GO:0070584 9.54 SSBP1 POLG2
5 respiratory electron transport chain GO:0022904 9.52 SCO2 POLG2
6 nucleotide biosynthetic process GO:0009165 9.51 TK2 DGUOK
7 DNA unwinding involved in DNA replication GO:0006268 9.49 TWNK SSBP1
8 mitochondrial genome maintenance GO:0000002 9.46 TYMP MPV17
9 DNA replication GO:0006260 9.46 TWNK SSBP1 POLG2 POLG
10 pyrimidine nucleoside salvage GO:0043097 9.43 TYMP TK2
11 mitochondrial transcription GO:0006390 9.4 TWNK TEFM
12 deoxyribonucleoside monophosphate biosynthetic process GO:0009157 9.37 TK2 DGUOK
13 pyrimidine nucleoside metabolic process GO:0006213 9.32 TYMP SCO2
14 pyrimidine nucleobase metabolic process GO:0006206 9.26 TYMP SCO2
15 DNA biosynthetic process GO:0071897 9.13 TK2 POLG2 POLG
16 mitochondrial DNA replication GO:0006264 9.02 TWNK TEFM SSBP1 POLG2 POLG

Molecular functions related to Mitochondrial Dna Depletion Syndrome 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protease binding GO:0002020 9.54 TWNK TRIP4 POLG
2 DNA-directed DNA polymerase activity GO:0003887 9.4 POLG2 POLG
3 transferase activity, transferring pentosyl groups GO:0016763 9.32 TYMP SCO2
4 phosphorylase activity GO:0004645 9.26 TYMP SCO2
5 nucleoside kinase activity GO:0019206 9.16 TK2 DGUOK
6 deoxynucleoside kinase activity GO:0019136 8.96 TK2 DGUOK
7 DNA polymerase processivity factor activity GO:0030337 8.62 TEFM POLG2

Sources for Mitochondrial Dna Depletion Syndrome 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
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39 LOVD
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43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
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50 NDF-RT
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54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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