MTDPS3
MCID: MTC063
MIFTS: 51

Mitochondrial Dna Depletion Syndrome 3 (MTDPS3)

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 3

MalaCards integrated aliases for Mitochondrial Dna Depletion Syndrome 3:

Name: Mitochondrial Dna Depletion Syndrome 3 57 12 20 73 13 6 15 71
Deoxyguanosine Kinase Deficiency 12 25 20 43 58 44
Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form Due to Dguok Deficiency 20 58 29 6
Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form 43 58 29 6
Dguok-Related Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form 25 20
Mitochondrial Dna-Depletion Syndrome 3, Hepatocerebral 29 6
Dguok Deficiency 25 20
Mtdps3 57 73
Hepatocerebral Mitochondrial Dna Deletions Syndrome Autosomal Recessive 73
Mitochondrial Dna Depletion Syndrome 3 Hepatocerebral Type 73
Hepatocerebral Mitochondrial Dna Depletion Syndrome 43
Dguok-Related Mitochondrial Dna Depletion Syndrome 43
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®:

57 (Updated 05-Mar-2021)
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

MedlinePlus Genetics : 43 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 acute liver failure, 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 is Mitochondrial Gene Expression. Affiliated tissues include liver and eye, and related phenotypes are hyperreflexia and failure to thrive

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® : 57 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) (Updated 05-Mar-2021)

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 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 3 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 85)
# Related Disease Score Top Affiliating Genes
1 mitochondrial dna depletion syndrome 6 32.7 TWNK POLG2 POLG MPV17 DGUOK
2 acute liver failure 30.1 POLG2 POLG
3 mitochondrial metabolism disease 29.7 TWNK SCO2 POLG2 POLG MPV17 DGUOK
4 myopathy 29.4 TWNK TK2 TFAM POLG2 POLG DGUOK
5 mitochondrial disorders 29.2 TWNK TK2 TFAM SCO2 POLG2 POLG
6 mitochondrial myopathy 28.9 TWNK TK2 TFAM SSBP1 POLG2 POLG
7 mitochondrial dna depletion syndrome 28.8 TWNK TK2 TFAM SCO2 POLG2 POLG
8 mpv17-related mitochondrial dna maintenance defect 11.5
9 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 4 11.4
10 liver disease 10.4
11 pathologic nystagmus 10.4
12 cholestasis 10.3
13 hypotonia 10.3
14 glycogen storage disease 10.3
15 mental retardation, autosomal dominant 13 10.3 LAS1L ASCC1
16 polg-related disorders 10.2 TWNK POLG
17 lethal congenital contracture syndrome 2 10.2 LAS1L ASCC1
18 myotonic cataract 10.2 TWNK POLG
19 ataxia neuropathy spectrum 10.2 TWNK POLG
20 non-alcoholic fatty liver disease 10.2
21 hypoglycemia 10.2
22 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 1 10.2 TK2 POLG
23 coenzyme q10 deficiency disease 10.2 TK2 POLG
24 cystathioninuria 10.2
25 alacrima, achalasia, and mental retardation syndrome 10.2
26 uniparental disomy of chromosome 2 10.2
27 encephalopathy 10.2
28 maternal uniparental disomy 10.2
29 maternal uniparental disomy of chromosome 2 10.2
30 mitochondrial complex iii deficiency, nuclear type 2 10.2 TWNK POLG
31 mitochondrial dna depletion syndrome 11 10.2 TEFM MPV17
32 mitochondrial neurogastrointestinal encephalomyopathy 10.2 SCO2 POLG
33 perrault syndrome 10.1 TWNK TFAM SSBP1
34 autosomal recessive distal hereditary motor neuronopathy 10.1 MORC2 LAS1L
35 cranial nerve disease 10.1 TWNK TFAM POLG
36 prenatal-onset spinal muscular atrophy with congenital bone fractures 10.1 TRIP4 ASCC1
37 mitochondrial dna depletion syndrome 5 10.1 POLG MPV17 DGUOK
38 gracile syndrome 10.1 MPV17 DGUOK
39 mitochondrial encephalomyopathy 10.1 TWNK POLG DGUOK
40 motor peripheral neuropathy 10.1 POLG MPV17 DGUOK
41 3-methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome 10.1 POLG MPV17
42 congenital contractures 10.1 TRIP4 ASCC1
43 spinal muscular atrophy, distal, autosomal recessive, 1 10.1 MORC2 LAS1L
44 dentatorubral-pallidoluysian atrophy 10.0 TWNK TK2 POLG
45 optic nerve disease 10.0 TWNK TFAM POLG
46 visual cortex disease 10.0 POLG2 POLG
47 visual pathway disease 10.0 POLG2 POLG
48 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 10.0 TWNK TFAM POLG DGUOK
49 neuropathy, ataxia, and retinitis pigmentosa 10.0 TWNK TFAM SCO2 POLG
50 pearson marrow-pancreas syndrome 10.0 TWNK POLG MPV17 DGUOK

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 hyperreflexia 31 HP:0001347
2 failure to thrive 31 HP:0001508
3 nystagmus 31 HP:0000639
4 hypothermia 31 HP:0002045
5 splenomegaly 31 HP:0001744
6 hepatomegaly 31 HP:0002240
7 microcephaly 31 HP:0000252
8 feeding difficulties in infancy 31 HP:0008872
9 vomiting 31 HP:0002013
10 portal hypertension 31 HP:0001409
11 hypoglycemia 31 HP:0001943
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 encephalopathy 31 HP:0001298
22 lactic acidosis 31 HP:0003128
23 cerebral atrophy 31 HP:0002059
24 decreased activity of mitochondrial respiratory chain 31 HP:0008972
25 polyneuropathy 31 HP:0001271
26 generalized hypotonia 31 HP:0001290
27 generalized aminoaciduria 31 HP:0002909
28 abnormal conjugate eye movement 31 HP:0000549
29 micronodular cirrhosis 31 HP:0001413
30 periportal fibrosis 31 HP:0001405
31 hepatocellular necrosis 31 HP:0001404
32 seizure 31 HP:0001250
33 hypotonia 31 HP:0001252
34 depletion of mitochondrial dna in liver 31 HP:0006581

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
seizures
hyperreflexia
nystagmus
encephalopathy
cerebral atrophy
more
Head And Neck Eyes:
nystagmus
disconjugate eye movements
optic dysplasia

Abdomen Spleen:
splenomegaly

Abdomen Gastrointestinal:
vomiting
poor feeding

Hematology:
thrombocytopenia
coagulopathy due to hepatic failure

Neurologic Peripheral Nervous System:
peripheral neuropathy

Head And Neck Head:
microcephaly (less common)

Growth Other:
failure to thrive
poor growth

Metabolic Features:
hypothermia
hypoglycemia
lactic acidosis

Abdomen Liver:
hepatomegaly
jaundice
hepatic failure
cholestasis
periportal fibrosis
more
Abdomen External Features:
portal hypertension
ascites

Skin Nails Hair Skin:
jaundice

Laboratory Abnormalities:
hyperbilirubinemia
hypoalbuminemia
generalized aminoaciduria
abnormal liver function tests

Clinical features from OMIM®:

251880 (Updated 05-Mar-2021)

UMLS symptoms related to Mitochondrial Dna Depletion Syndrome 3:


seizures, vomiting, icterus

MGI Mouse Phenotypes related to Mitochondrial Dna Depletion Syndrome 3:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.13 DGUOK HJV MORC2 MPV17 POLG SLC40A1
2 cellular MP:0005384 10.1 DGUOK MPV17 POLG POLG2 SCO2 SLC40A1
3 mortality/aging MP:0010768 10.03 ASCC1 DGUOK HJV MORC2 MPV17 POLG
4 embryo MP:0005380 10.02 ASCC1 MORC2 POLG POLG2 SCO2 SLC40A1
5 integument MP:0010771 9.92 DGUOK HJV MORC2 MPV17 POLG SLC40A1
6 liver/biliary system MP:0005370 9.86 DGUOK HJV MORC2 MPV17 SCO2 SLC25A13
7 muscle MP:0005369 9.5 MORC2 MPV17 POLG SCO2 TEFM TFAM
8 renal/urinary system MP:0005367 9.17 DGUOK HJV MORC2 MPV17 POLG2 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

Publications for Mitochondrial Dna Depletion Syndrome 3

Articles related to Mitochondrial Dna Depletion Syndrome 3:

(show all 40)
# Title Authors PMID Year
1
Kinetic properties of mutant deoxyguanosine kinase in a case of reversible hepatic mtDNA depletion. 25 6 57
17073823 2007
2
Novel mutation in DGUOK in hepatocerebral mitochondrial DNA depletion syndrome associated with cystathioninuria. 57 6 25
15887277 2005
3
Mitochondrial DNA depletion and dGK gene mutations. 57 6
12205643 2002
4
Progressive reversion of clinical and molecular phenotype in a child with liver mitochondrial DNA depletion. 57 6
11983456 2002
5
The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA. 57 6
11687800 2001
6
Recurrent recessive mutation in deoxyguanosine kinase causes idiopathic noncirrhotic portal hypertension. 6 25
26874653 2016
7
Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions. 6 25
23043144 2012
8
Long-term outcomes after liver transplantation for deoxyguanosine kinase deficiency: a single-center experience and a review of the literature. 61 25
24478274 2014
9
Recessive deoxyguanosine kinase deficiency causes juvenile onset mitochondrial myopathy. 61 25
22622127 2012
10
Detection of uniparental isodisomy in autosomal recessive mitochondrial DNA depletion syndrome by high-density SNP array analysis. 57
22011815 2011
11
Deoxyguanosine kinase deficiency presenting as neonatal hemochromatosis. 25 61
21478040 2011
12
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. 61 25
21107780 2011
13
Abnormal neurological features predict poor survival and should preclude liver transplantation in patients with deoxyguanosine kinase deficiency. 61 25
18825706 2008
14
Mitochondrial DNA depletion is a prevalent cause of multiple respiratory chain deficiency in childhood. 6
17452231 2007
15
New DGK gene mutations in the hepatocerebral form of mitochondrial DNA depletion syndrome. 57
15883261 2005
16
A novel mutation in the deoxyguanosine kinase gene causing depletion of mitochondrial DNA. 6
12210798 2002
17
Mitochondrial DNA depletion syndrome is expressed in amniotic fluid cell cultures. 57
10393838 1999
18
Molecular mechanisms in mitochondrial DNA depletion syndrome. 57
9175742 1997
19
Nuclear complementation restores mtDNA levels in cultured cells from a patient with mtDNA depletion. 57
8394647 1993
20
Fatal infantile liver failure associated with mitochondrial DNA depletion. 57
1447652 1992
21
mtDNA depletion with variable tissue expression: a novel genetic abnormality in mitochondrial diseases. 57
1998336 1991
22
Mitochondrial phosphoenolpyruvate carboxykinase deficiency. 57
2044592 1991
23
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. 57
6314875 1983
24
Incidence of Primary Mitochondrial Disease in Children Younger Than 2 Years Presenting With Acute Liver Failure. 25
27482763 2016
25
Novel deoxyguanosine kinase gene mutations in the hepatocerebral form of mitochondrial DNA depletion syndrome. 25
24423689 2015
26
Mitochondrial DNA depletion syndromes: review and updates of genetic basis, manifestations, and therapeutic options. 25
23385875 2013
27
Two patients with hepatic mtDNA depletion syndromes and marked elevations of S-adenosylmethionine and methionine. 25
22137549 2012
28
The first founder DGUOK mutation associated with hepatocerebral mitochondrial DNA depletion syndrome. 25
19394258 2009
29
Simultaneous detection of mitochondrial DNA depletion and single-exon deletion in the deoxyguanosine gene using array-based comparative genomic hybridisation. 25
19103789 2009
30
Metabolic interrelations within guanine deoxynucleotide pools for mitochondrial and nuclear DNA maintenance. 25
18417473 2008
31
Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase. 25
18205204 2008
32
Defects in maintenance of mitochondrial DNA are associated with intramitochondrial nucleotide imbalances. 25
17483096 2007
33
Hepatocerebral mitochondrial DNA depletion syndrome caused by deoxyguanosine kinase (DGUOK) mutations. 25
16908739 2006
34
Hyperinsulinaemic hypoglycaemia in deoxyguanosine kinase deficiency. 61
31465631 2019
35
Severe Deoxyguanosine Kinase Deficiency in Austria: A 6-Patient Series. 61
30589726 2019
36
Deoxyguanosine kinase deficiency: a report of four patients. 61
28493820 2017
37
Neonatal liver failure due to deoxyguanosine kinase deficiency. 61
22602837 2012
38
Deoxyguanosine Kinase Deficiency 61
20301766 2009
39
Mitochondrial deoxyribonucleotide pools in deoxyguanosine kinase deficiency. 61
18723380 2008
40
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 57)
# 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-AS1 NM_080916.3(DGUOK):c.749T>C (p.Leu250Ser) SNV Pathogenic 488491 rs749464475 2:74185314-74185314 2:73958187-73958187
3 DGUOK NM_080916.3(DGUOK):c.605_606del (p.Arg202fs) Microsatellite Pathogenic 214288 rs863223949 2:74184262-74184263 2:73957135-73957136
4 DGUOK NM_080916.3(DGUOK):c.591G>A (p.Gln197=) SNV Pathogenic 214286 rs748597500 2:74177859-74177859 2:73950732-73950732
5 DGUOK-AS1 NM_080916.3(DGUOK):c.763G>T (p.Asp255Tyr) SNV Pathogenic 8159 rs104893633 2:74185328-74185328 2:73958201-73958201
6 DGUOK NM_080916.3(DGUOK):c.679G>A (p.Glu227Lys) SNV Pathogenic 8158 rs104893632 2:74184339-74184339 2:73957212-73957212
7 DGUOK NM_080916.3(DGUOK):c.425G>A (p.Arg142Lys) SNV Pathogenic 8157 rs104893631 2:74174015-74174015 2:73946888-73946888
8 DGUOK NM_080916.3(DGUOK):c.609_610del (p.Tyr204fs) Deletion Pathogenic 8156 rs886037615 2:74184268-74184269 2:73957141-73957142
9 DGUOK-AS1 NM_080916.3(DGUOK):c.763_766dup (p.Phe256Ter) Duplication Pathogenic 8155 rs763706988 2:74185326-74185327 2:73958199-73958200
10 DGUOK NM_080916.3(DGUOK):c.313C>T (p.Arg105Ter) SNV Pathogenic 8154 rs104893630 2:74173903-74173903 2:73946776-73946776
11 DGUOK NM_080916.3(DGUOK):c.255del (p.Ala86fs) Deletion Pathogenic 8153 rs886037613 2:74166145-74166145 2:73939018-73939018
12 DGUOK-AS1 NM_080916.3(DGUOK):c.797T>G (p.Leu266Arg) SNV Pathogenic 253063 rs886037846 2:74185362-74185362 2:73958235-73958235
13 DGUOK NM_080916.3(DGUOK):c.137A>G (p.Asn46Ser) SNV Pathogenic 253062 rs763615602 2:74154174-74154174 2:73927047-73927047
14 DGUOK NM_080916.3(DGUOK):c.605_606del (p.Arg202fs) Microsatellite Pathogenic 214288 rs863223949 2:74184262-74184263 2:73957135-73957136
15 DGUOK NM_080916.3(DGUOK):c.287T>C (p.Leu96Pro) SNV Likely pathogenic 135652 rs587780587 2:74173877-74173877 2:73946750-73946750
16 DGUOK NM_080916.3(DGUOK):c.707+2T>G SNV Likely pathogenic 801725 rs1573582059 2:74184369-74184369 2:73957242-73957242
17 TFAM NM_003201.3(TFAM):c.533C>T (p.Pro178Leu) SNV Likely pathogenic 221285 rs757075712 10:60150616-60150616 10:58390856-58390856
18 DGUOK NM_080916.3(DGUOK):c.155C>T (p.Ser52Phe) SNV Conflicting interpretations of pathogenicity 488490 rs1204316787 2:74166049-74166049 2:73938922-73938922
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.-8T>C SNV Uncertain significance 337043 rs369681767 2:74154030-74154030 2:73926903-73926903
21 MPV17 NM_002437.5(MPV17):c.74C>A (p.Ser25Tyr) SNV Uncertain significance 990646 2:27535973-27535973 2:27313106-27313106
22 MPV17 NM_002437.5(MPV17):c.-6+8G>A SNV Uncertain significance 335528 rs886055897 2:27545911-27545911 2:27323044-27323044
23 DGUOK-AS1 NM_080916.3(DGUOK):c.*7C>T SNV Uncertain significance 897204 2:74185870-74185870 2:73958743-73958743
24 DGUOK NM_080916.3(DGUOK):c.684C>G (p.Ala228=) SNV Uncertain significance 897203 2:74184344-74184344 2:73957217-73957217
25 DGUOK NM_080916.3(DGUOK):c.655C>T (p.Leu219=) SNV Uncertain significance 896732 2:74184315-74184315 2:73957188-73957188
26 DGUOK NM_080916.3(DGUOK):c.492C>T (p.Ile164=) SNV Uncertain significance 559368 rs148915942 2:74177760-74177760 2:73950633-73950633
27 DGUOK-AS1 NM_080916.3(DGUOK):c.*120G>A SNV Uncertain significance 337052 rs886056323 2:74185983-74185983 2:73958856-73958856
28 DGUOK NM_080916.3(DGUOK):c.211C>G (p.Pro71Ala) SNV Uncertain significance 208752 rs184770596 2:74166105-74166105 2:73938978-73938978
29 DGUOK NM_080916.3(DGUOK):c.9G>T (p.Ala3=) SNV Uncertain significance 895310 2:74154046-74154046 2:73926919-73926919
30 DGUOK NM_080916.3(DGUOK):c.265G>A (p.Ala89Thr) SNV Uncertain significance 895311 2:74173855-74173855 2:73946728-73946728
31 DGUOK NM_080916.3(DGUOK):c.278G>A (p.Gly93Glu) SNV Uncertain significance 523553 rs1553403624 2:74173868-74173868 2:73946741-73946741
32 DGUOK NM_080916.3(DGUOK):c.65C>T (p.Pro22Leu) SNV Uncertain significance 523554 rs757962437 2:74154102-74154102 2:73926975-73926975
33 MPV17 NM_002437.5(MPV17):c.*360G>C SNV Uncertain significance 335520 rs866206271 2:27532420-27532420 2:27309552-27309552
34 MPV17 NM_002437.5(MPV17):c.*130G>T SNV Uncertain significance 335523 rs886055896 2:27532650-27532650 2:27309782-27309782
35 MPV17 NM_002437.5(MPV17):c.*347C>T SNV Uncertain significance 335521 rs144697795 2:27532433-27532433 2:27309565-27309565
36 MPV17 NM_002437.5(MPV17):c.-11G>C SNV Uncertain significance 335529 rs886055898 2:27545924-27545924 2:27323057-27323057
37 MPV17 NM_002437.5(MPV17):c.*413A>C SNV Uncertain significance 335519 rs575276701 2:27532367-27532367 2:27309499-27309499
38 MPV17 NM_002437.5(MPV17):c.*34G>A SNV Uncertain significance 335525 rs147885371 2:27532746-27532746 2:27309878-27309878
39 MPV17 NM_002437.5(MPV17):c.373C>T (p.Arg125Trp) SNV Uncertain significance 335526 rs112170670 2:27535363-27535363 2:27312496-27312496
40 DGUOK NM_080916.3(DGUOK):c.337T>C (p.Phe113Leu) SNV Uncertain significance 289872 rs141810774 2:74173927-74173927 2:73946800-73946800
41 DGUOK NM_080916.3(DGUOK):c.-21G>T SNV Uncertain significance 337042 rs200333852 2:74154017-74154017 2:73926890-73926890
42 DGUOK NM_080916.3(DGUOK):c.664C>T (p.Leu222=) SNV Uncertain significance 337049 rs375686551 2:74184324-74184324 2:73957197-73957197
43 DGUOK NM_080916.3(DGUOK):c.568A>T (p.Ile190Phe) SNV Uncertain significance 337047 rs757043357 2:74177836-74177836 2:73950709-73950709
44 DGUOK-AS1 NM_080916.3(DGUOK):c.708-3T>C SNV Uncertain significance 214279 rs370071744 2:74185270-74185270 2:73958143-73958143
45 DGUOK NM_080916.3(DGUOK):c.366G>C (p.Gln122His) SNV Uncertain significance 337046 rs199645258 2:74173956-74173956 2:73946829-73946829
46 DGUOK NM_080916.3(DGUOK):c.142+1G>T SNV Uncertain significance 337045 rs886056321 2:74154180-74154180 2:73927053-73927053
47 DGUOK NM_080916.3(DGUOK):c.705G>A (p.Thr235=) SNV Uncertain significance 337050 rs866403196 2:74184365-74184365 2:73957238-73957238
48 DGUOK NM_080916.3(DGUOK):c.-1G>A SNV Uncertain significance 337044 rs754623273 2:74154037-74154037 2:73926910-73926910
49 DGUOK NM_080916.3(DGUOK):c.630G>A (p.Glu210=) SNV Uncertain significance 197867 rs115206553 2:74184290-74184290 2:73957163-73957163
50 DGUOK NM_080916.3(DGUOK):c.509A>G (p.Gln170Arg) SNV Likely benign 137082 rs74874677 2:74177777-74177777 2:73950650-73950650

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

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.06 TWNK TFAM SSBP1 POLG2

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 9.9 TWNK TK2 TFAM TEFM SSBP1 SLC25A13
2 mitochondrial matrix GO:0005759 9.56 TWNK TK2 TFAM TEFM SSBP1 SCO2
3 gamma DNA polymerase complex GO:0005760 9.26 POLG2 POLG
4 mitochondrial nucleoid GO:0042645 9.1 TWNK TFAM TEFM SSBP1 POLG2 POLG

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 DNA replication GO:0006260 9.62 TWNK SSBP1 POLG2 POLG
2 ATP biosynthetic process GO:0006754 9.49 SLC25A13 DGUOK
3 DNA-dependent DNA replication GO:0006261 9.48 POLG2 POLG
4 mitochondrion morphogenesis GO:0070584 9.46 SSBP1 POLG2
5 mitochondrion organization GO:0007005 9.46 TWNK TFAM SSBP1 POLG2
6 respiratory electron transport chain GO:0022904 9.43 SCO2 POLG2
7 DNA biosynthetic process GO:0071897 9.43 TK2 POLG2 POLG
8 DNA unwinding involved in DNA replication GO:0006268 9.4 TWNK SSBP1
9 deoxyribonucleoside monophosphate biosynthetic process GO:0009157 9.37 TK2 DGUOK
10 mitochondrial transcription GO:0006390 9.13 TWNK TFAM TEFM
11 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 chromatin binding GO:0003682 9.62 TFAM SSBP1 POLG MORC2
2 protease binding GO:0002020 9.33 TWNK TRIP4 POLG
3 DNA-directed DNA polymerase activity GO:0003887 9.26 POLG2 POLG
4 deoxynucleoside kinase activity GO:0019136 8.96 TK2 DGUOK
5 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
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
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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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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