MTDPS3
MCID: MTC063
MIFTS: 47

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 and mitochondrial myopathy, and has symptoms including seizures, vomiting and icterus. An important gene associated with Mitochondrial Dna Depletion Syndrome 3 is DGUOK (Deoxyguanosine Kinase). Affiliated tissues include liver, eye and brain, and related phenotypes are nystagmus and seizures

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 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 all 48)
# Related Disease Score Top Affiliating Genes
1 mitochondrial dna depletion syndrome 30.8 TWNK TK2
2 mitochondrial myopathy 29.8 TWNK TK2 DGUOK
3 mitochondrial dna depletion syndrome 6 12.7
4 mpv17-related mitochondrial dna maintenance defect 12.0
5 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 4 11.6
6 pathologic nystagmus 10.3
7 glycogen storage disease 10.3
8 pearson marrow-pancreas syndrome 10.3 TWNK DGUOK
9 cholestasis 10.2
10 hypotonia 10.2
11 mitochondrial dna depletion syndrome 7 10.2 TWNK DGUOK
12 hypoglycemia 10.2
13 cystathioninuria 10.2
14 uniparental disomy of chromosome 2 10.2
15 encephalopathy 10.2
16 maternal uniparental disomy 10.2
17 maternal uniparental disomy of chromosome 2 10.2
18 mitochondrial dna maintenance defects 10.1 TWNK TK2 DGUOK
19 prenatal-onset spinal muscular atrophy with congenital bone fractures 10.1 TRIP4 ASCC1
20 acute liver failure 10.1
21 congenital contractures 10.1 TRIP4 ASCC1
22 chronic progressive external ophthalmoplegia 10.0 TWNK DGUOK
23 kearns-sayre syndrome 10.0 TWNK TK2 DGUOK
24 mitochondrial dna depletion syndrome 14 10.0 TEFM PRIMPOL
25 mitochondrial dna depletion syndrome 8a 10.0 TEFM PRIMPOL
26 mitochondrial dna depletion syndrome 11 10.0 TEFM PRIMPOL
27 spinal muscular atrophy, distal, autosomal recessive, 1 10.0 MORC2 LAS1L
28 leber optic atrophy 10.0 TWNK SCO2 DGUOK
29 mitochondrial dna depletion syndrome 4b 9.9 TEFM PRIMPOL
30 hemochromatosis, neonatal 9.9
31 hemochromatosis, type 1 9.9
32 siderosis 9.9
33 lactic acidosis 9.9
34 myopathy 9.9
35 tyrosinemia 9.9
36 mitochondrial disorders 9.9
37 aminoaciduria 9.9
38 spinal muscular atrophy, type i 9.9 SCO2 LAS1L
39 mitochondrial dna depletion syndrome 4a 9.8 TEFM PRIMPOL DGUOK
40 mitochondrial metabolism disease 9.8 TWNK TK2 SCO2 DGUOK
41 brown-vialetto-van laere syndrome 9.7 MORC2 BICD2
42 muscular atrophy 9.7 TRIP4 BICD2 ASCC1
43 mitochondrial dna depletion syndrome 1 9.7 TEFM SCO2 PRIMPOL
44 motor peripheral neuropathy 9.7 DGUOK BICD2
45 lethal congenital contracture syndrome 2 9.7 TRIP4 TK2 LAS1L ASCC1
46 mental retardation, autosomal dominant 13 9.6 TK2 LAS1L BICD2 ASCC1
47 spinal muscular atrophy 8.6 TRIP4 TK2 SCO2 EXOSC8 BICD2 ASCC1
48 mitochondrial dna depletion syndrome 2 8.0 TRIP4 TK2 TEFM SCO2 PRIMPOL MORC2

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

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
nystagmus
disconjugate eye movements
optic dysplasia

Growth Other:
failure to thrive
poor growth

Abdomen Spleen:
splenomegaly

Abdomen External Features:
portal hypertension
ascites

Neurologic Peripheral Nervous System:
peripheral neuropathy

Skin Nails Hair Skin:
jaundice

Head And Neck Head:
microcephaly (less common)

Neurologic Central Nervous System:
nystagmus
seizures
hyperreflexia
encephalopathy
cerebral atrophy
more
Metabolic Features:
hypothermia
hypoglycemia
lactic acidosis

Abdomen Liver:
hepatomegaly
jaundice
hepatic failure
cholestasis
periportal fibrosis
more
Abdomen Gastrointestinal:
vomiting
poor feeding

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

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. 6 56 24
17073823 2007
2
Novel mutation in DGUOK in hepatocerebral mitochondrial DNA depletion syndrome associated with cystathioninuria. 24 6 56
15887277 2005
3
Mitochondrial DNA depletion and dGK gene mutations. 56 6
12205643 2002
4
Progressive reversion of clinical and molecular phenotype in a child with liver mitochondrial DNA depletion. 56 6
11983456 2002
5
The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA. 56 6
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. 61 24
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. 61 24
21107780 2011
15
Abnormal neurological features predict poor survival and should preclude liver transplantation in patients with deoxyguanosine kinase deficiency. 24 61
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 all 32) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# 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 2:74166149-74166149 2:73939022-73939022
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 2:74185328-74185331 2:73958201-73958204
5 DGUOK NM_080916.3(DGUOK):c.609_610del (p.Tyr204fs)deletion Pathogenic 8156 rs886037615 2:74184269-74184270 2:73957142-73957143
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.797T>G (p.Leu266Arg)SNV Pathogenic 253063 rs886037846 2:74185362-74185362 2:73958235-73958235
10 DGUOK NM_080916.3(DGUOK):c.591G>A (p.Gln197=)SNV Pathogenic 214286 rs748597500 2:74177859-74177859 2:73950732-73950732
11 DGUOK NM_080916.3(DGUOK):c.603_604GA[1] (p.Arg202fs)short repeat Pathogenic 214288 rs863223949 2:74184265-74184266 2:73957138-73957139
12 DGUOK NM_080916.3(DGUOK):c.749T>C (p.Leu250Ser)SNV Pathogenic 488491 rs749464475 2:74185314-74185314 2:73958187-73958187
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.287T>C (p.Leu96Pro)SNV Likely pathogenic 135652 rs587780587 2:74173877-74173877 2:73946750-73946750
16 MPV17 NM_002437.5(MPV17):c.27G>T (p.Arg9=)SNV Conflicting interpretations of pathogenicity 195172 rs35244252 2:27545358-27545358 2:27322491-27322491
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.4G>T (p.Ala2Ser)SNV Uncertain significance 193482 rs147551003 2:74154041-74154041 2:73926914-73926914
19 DGUOK NM_080916.3(DGUOK):c.211C>G (p.Pro71Ala)SNV Uncertain significance 208752 rs184770596 2:74166105-74166105 2:73938978-73938978
20 MPV17 NM_002437.5(MPV17):c.*130G>TSNV Uncertain significance 335523 rs886055896 2:27532650-27532650 2:27309782-27309782
21 MPV17 NM_002437.5(MPV17):c.373C>T (p.Arg125Trp)SNV Uncertain significance 335526 rs112170670 2:27535363-27535363 2:27312496-27312496
22 MPV17 NM_002437.5(MPV17):c.*360G>CSNV Uncertain significance 335520 rs866206271 2:27532420-27532420 2:27309552-27309552
23 MPV17 NM_002437.5(MPV17):c.*347C>TSNV Uncertain significance 335521 rs144697795 2:27532433-27532433 2:27309565-27309565
24 MPV17 NM_002437.5(MPV17):c.*80C>TSNV Uncertain significance 335524 rs200529035 2:27532700-27532700 2:27309832-27309832
25 MPV17 NM_002437.5(MPV17):c.164T>C (p.Val55Ala)SNV Uncertain significance 335527 rs575558175 2:27535883-27535883 2:27313016-27313016
26 MPV17 NM_002437.5(MPV17):c.-11G>CSNV Uncertain significance 335529 rs886055898 2:27545924-27545924 2:27323057-27323057
27 MPV17 NM_002437.5(MPV17):c.*413A>CSNV Uncertain significance 335519 rs575276701 2:27532367-27532367 2:27309499-27309499
28 MPV17 NM_002437.5(MPV17):c.*194G>ASNV Uncertain significance 335522 rs886055895 2:27532586-27532586 2:27309718-27309718
29 MPV17 NM_002437.5(MPV17):c.*34G>ASNV Uncertain significance 335525 rs147885371 2:27532746-27532746 2:27309878-27309878
30 MPV17 NM_002437.5(MPV17):c.-6+8G>ASNV Uncertain significance 335528 rs886055897 2:27545911-27545911 2:27323044-27323044
31 DGUOK NM_080916.3(DGUOK):c.142+1G>TSNV Uncertain significance 337045 rs886056321 2:74154180-74154180 2:73927053-73927053
32 DGUOK NM_080916.3(DGUOK):c.*13A>TSNV Benign 137083 rs4777 2:74185876-74185876 2:73958749-73958749

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 9.43 TWNK TK2 TEFM SCO2 PRIMPOL DGUOK
2 mitochondrial nucleoid GO:0042645 9.16 TWNK TEFM
3 mitochondrial matrix GO:0005759 9.1 TWNK TK2 TEFM SCO2 PRIMPOL DGUOK

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

# Name GO ID Score Top Affiliating Genes
1 nucleobase-containing compound metabolic process GO:0006139 9.32 TK2 DGUOK
2 nucleotide biosynthetic process GO:0009165 9.26 TK2 DGUOK
3 mitochondrial transcription GO:0006390 9.16 TWNK TEFM
4 deoxyribonucleoside monophosphate biosynthetic process GO:0009157 8.96 TK2 DGUOK
5 mitochondrial DNA replication GO:0006264 8.8 TWNK TEFM PRIMPOL

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

# Name GO ID Score Top Affiliating Genes
1 nucleoside kinase activity GO:0019206 8.96 TK2 DGUOK
2 deoxynucleoside kinase activity GO:0019136 8.62 TK2 DGUOK

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
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
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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