MTDPS1
MCID: MTC061
MIFTS: 49

Mitochondrial Dna Depletion Syndrome 1 (MTDPS1)

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 1

MalaCards integrated aliases for Mitochondrial Dna Depletion Syndrome 1:

Name: Mitochondrial Dna Depletion Syndrome 1 57 12 29 13 6 15
Mitochondrial Neurogastrointestinal Encephalopathy Syndrome, Tymp-Related 57 12
Myoneurogastrointestinal Encephalopathy Syndrome 57 6
Polip Syndrome 57 72
Mtdps1 57 72
Polyneuropathy, Ophthalmoplegia, Leukoencephalopathy, and Intestinal Pseudoobstruction 57
Polyneuropathy Ophthalmoplegia Leukoencephalopathy and Intestinal Pseudoobstruction 72
Mitochondrial Neurogastrointestinal Encephalopathy Syndrome Tymp-Related 72
Mitochondrial Neurogastrointestinal Encephalopathy Syndrome 70
Mitochondrial Neurogastrointestinal Encephalomyopathy 72
Mitochondrial Dna Depletion Syndrome 1, Mngie Type 72
Mitochondrial Dna Depletion Syndrome, Type 1 39
Myoneurogastrointestinal Encephalomyopathy 72
Mngie, Tymp-Related 57

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
onset in second to fifth decade
early death in early adulthood often associated with diverticulitis and intestinal perforation


HPO:

31
mitochondrial dna depletion syndrome 1:
Onset and clinical course death in early adulthood progressive
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Mitochondrial Dna Depletion Syndrome 1

OMIM® : 57 Mitochondrial DNA depletion syndrome-1 (MTDPS1) is an autosomal recessive progressive multisystem disorder clinically characterized by onset between the second and fifth decades of life of ptosis, progressive external ophthalmoplegia (PEO), gastrointestinal dysmotility (often pseudoobstruction), cachexia, diffuse leukoencephalopathy, peripheral neuropathy, and mitochondrial dysfunction. Mitochondrial DNA abnormalities can include depletion, deletion, and point mutations (Taanman et al., 2009). (603041) (Updated 20-May-2021)

MalaCards based summary : Mitochondrial Dna Depletion Syndrome 1, also known as mitochondrial neurogastrointestinal encephalopathy syndrome, tymp-related, is related to mitochondrial dna depletion syndrome 6 and mitochondrial dna depletion syndrome 5, and has symptoms including vomiting, abdominal pain and intermittent diarrhea. An important gene associated with Mitochondrial Dna Depletion Syndrome 1 is TYMP (Thymidine Phosphorylase), and among its related pathways/superpathways is pyrimidine deoxyribonucleosides degradation. Affiliated tissues include liver, eye and skeletal muscle, and related phenotypes are ptosis and constipation

Disease Ontology : 12 A mitochondrial DNA depletion syndrome that is characterized by onset between the second and fifth decades of life of ptosis, progressive external ophthalmoplegia, gastrointestinal dysmotility, cachexia, diffuse leukoencephalopathy, peripheral neuropathy, and mitochondrial dysfunction, and has material basis in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the nuclear-encoded thymidine phosphorylase gene on chromosome 22q13.

UniProtKB/Swiss-Prot : 72 Mitochondrial DNA depletion syndrome 1, MNGIE type: A multisystem disease associated with mitochondrial dysfunction. It is clinically characterized by onset between the second and fifth decades of life, ptosis, progressive external ophthalmoplegia, gastrointestinal dysmotility (often pseudoobstruction), diffuse leukoencephalopathy, cachexia, peripheral neuropathy, and myopathy.

Related Diseases for Mitochondrial Dna Depletion Syndrome 1

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

(show top 50) (show all 97)
# Related Disease Score Top Affiliating Genes
1 mitochondrial dna depletion syndrome 6 31.4 POLG MPV17
2 mitochondrial dna depletion syndrome 5 31.3 POLG MPV17
3 mitochondrial dna depletion syndrome 2 31.3 UQCC2 TEFM SCO2
4 mitochondrial dna depletion syndrome 7 31.0 POLG MPV17 MGME1
5 mitochondrial dna depletion syndrome 3 31.0 TEFM SCO2 POLG MPV17
6 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 1 30.7 POLG FANCI
7 mitochondrial disorders 30.6 TYMP SCO2 POLG MT-TK
8 mitochondrial dna depletion syndrome 4b 30.5 TYMP TEFM SCO2 POLG MPV17 FANCI
9 mitochondrial dna depletion syndrome 8a 30.2 UQCC2 TFB1M TEFM PRIMPOL MGME1
10 lactic acidosis 30.1 UQCC2 SCO2 POLG MT-TK
11 chronic progressive external ophthalmoplegia 30.1 TYMP POLG MT-TK MPV17 MGME1
12 mitochondrial metabolism disease 30.1 SCO2 POLG MPV17
13 mitochondrial neurogastrointestinal encephalomyopathy 29.8 TYMP SCO2 POLG MT-TK
14 seizure disorder 29.8 SCO2 POLG NCAPH2
15 mitochondrial myopathy 29.7 TYMP POLG MPV17 MGME1
16 mitochondrial dna depletion syndrome 4a 29.6 TYMP TFB2M PRIMPOL POLG MPV17 MGME1
17 kearns-sayre syndrome 29.4 TYMP SCO2 POLG MPV17 MGME1
18 mitochondrial dna depletion syndrome 11 29.2 UQCC2 TFB2M TFB1M TEFM PRIMPOL MPV17
19 mitochondrial dna depletion syndrome 9 10.9
20 mitochondrial dna depletion syndrome 12b , autosomal recessive 10.9
21 mitochondrial dna depletion syndrome 13 10.9
22 mitochondrial dna depletion syndrome 12a , autosomal dominant 10.9
23 mitochondrial dna depletion syndrome 18 10.9
24 myopathy 10.6
25 anorexia nervosa 10.5
26 celiac disease 1 10.4
27 leukodystrophy 10.4
28 muscular atrophy 10.4
29 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.3
30 inflammatory bowel disease 10.3
31 diarrhea 10.3
32 hypogonadism 10.3
33 neuropathy, ataxia, and retinitis pigmentosa 10.2 SCO2 POLG
34 mitochondrial complex iv deficiency, nuclear type 2 10.2 SCO2 NCAPH2
35 visceral myopathy 10.1
36 trigeminal neuralgia 10.1
37 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.1
38 myasthenia gravis 10.1
39 ataxia and polyneuropathy, adult-onset 10.1
40 infective endocarditis 10.1
41 scoliosis 10.1
42 non-alcoholic fatty liver disease 10.1
43 endocarditis 10.1
44 myopia 10.1
45 exocrine pancreatic insufficiency 10.1
46 amenorrhea 10.1
47 toxic shock syndrome 10.1
48 optic nerve disease 10.1
49 polyradiculoneuropathy 10.1
50 neuromuscular disease 10.1

Graphical network of the top 20 diseases related to Mitochondrial Dna Depletion Syndrome 1:



Diseases related to Mitochondrial Dna Depletion Syndrome 1

Symptoms & Phenotypes for Mitochondrial Dna Depletion Syndrome 1

Human phenotypes related to Mitochondrial Dna Depletion Syndrome 1:

31 (show all 26)
# Description HPO Frequency HPO Source Accession
1 ptosis 31 HP:0000508
2 constipation 31 HP:0002019
3 malabsorption 31 HP:0002024
4 sensorineural hearing impairment 31 HP:0000407
5 vomiting 31 HP:0002013
6 progressive external ophthalmoplegia 31 HP:0000590
7 ragged-red muscle fibers 31 HP:0003200
8 abdominal pain 31 HP:0002027
9 slender build 31 HP:0001533
10 cachexia 31 HP:0004326
11 areflexia 31 HP:0001284
12 leukoencephalopathy 31 HP:0002352
13 lactic acidosis 31 HP:0003128
14 mitochondrial myopathy 31 HP:0003737
15 intermittent diarrhea 31 HP:0002254
16 distal muscle weakness 31 HP:0002460
17 distal sensory impairment 31 HP:0002936
18 gastroparesis 31 HP:0002578
19 distal amyotrophy 31 HP:0003693
20 gastrointestinal dysmotility 31 HP:0002579
21 malnutrition 31 HP:0004395
22 hypointensity of cerebral white matter on mri 31 HP:0007103
23 intestinal perforation 31 HP:0031368
24 cytochrome c oxidase-negative muscle fibers 31 HP:0003688
25 subsarcolemmal accumulations of abnormally shaped mitochondria 31 HP:0003548
26 multiple mitochondrial dna deletions 31 HP:0003689

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Eyes:
ptosis
external ophthalmoplegia, progressive (peo)

Neurologic Peripheral Nervous System:
areflexia
peripheral neuropathy
loss of distal sensation
sensorimotor axonal/demyelinating neuropathy

Metabolic Features:
lactic acidosis

Head And Neck Ears:
hearing loss, sensorineural

Growth Weight:
weight loss, progressive

Abdomen Gastrointestinal:
malabsorption
vomiting
abdominal pain
intermittent diarrhea
gastroparesis
more
Neurologic Central Nervous System:
leukoencephalopathy
hypodensity of cerebral white matter seen on mri

Muscle Soft Tissue:
mitochondrial myopathy
ragged red fibers seen on muscle biopsy
subsarcolemmal accumulations of abnormally shaped mitochondria seen on electron microscopy
distal limb muscle weakness (less common)
multiple mitochondrial dna (mtdna) deletions seen on muscle biopsy
more
Growth Other:
thin body habitus
marked cachexia

Laboratory Abnormalities:
decreased activity of thymidine phosphorylase
increased serum thymidine
increased serum deoxyuridine

Clinical features from OMIM®:

603041 (Updated 20-May-2021)

UMLS symptoms related to Mitochondrial Dna Depletion Syndrome 1:


vomiting; abdominal pain; intermittent diarrhea; chronic constipation

MGI Mouse Phenotypes related to Mitochondrial Dna Depletion Syndrome 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.28 MGME1 MPV17 NCAPH2 POLG PRIMPOL SCO2

Drugs & Therapeutics for Mitochondrial Dna Depletion Syndrome 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 MNGIE (Mitochondrial Neurogastrointestinal Encephalomyopathy) AHSCT (Allogeneic Hematopoietic Stem Cell Transplant) Safety Study Recruiting NCT02427178 Phase 1
2 Natural History Study of Mitochondrial Neurogastrointestinal Encephalomyopathy Recruiting NCT04245917

Search NIH Clinical Center for Mitochondrial Dna Depletion Syndrome 1

Genetic Tests for Mitochondrial Dna Depletion Syndrome 1

Genetic tests related to Mitochondrial Dna Depletion Syndrome 1:

# Genetic test Affiliating Genes
1 Mitochondrial Dna Depletion Syndrome 1 (mngie Type) 29 POLG TYMP

Anatomical Context for Mitochondrial Dna Depletion Syndrome 1

MalaCards organs/tissues related to Mitochondrial Dna Depletion Syndrome 1:

40
Liver, Eye, Skeletal Muscle, Bone Marrow, Pancreas, Bone

Publications for Mitochondrial Dna Depletion Syndrome 1

Articles related to Mitochondrial Dna Depletion Syndrome 1:

(show top 50) (show all 51)
# Title Authors PMID Year
1
Characterization of a novel TYMP splice site mutation associated with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). 6 57
19056268 2009
2
Late-onset MNGIE due to partial loss of thymidine phosphorylase activity. 6 57
16178026 2005
3
MNGIE with lack of skeletal muscle involvement and a novel TP splice site mutation. 6 57
14757860 2004
4
Phenotypic variability in a Spanish family with MNGIE. 57 6
12177387 2002
5
Mitochondrial neurogastrointestinal encephalomyopathy: an autosomal recessive disorder due to thymidine phosphorylase mutations. 57 6
10852545 2000
6
Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder. 6 57
9924029 1999
7
Successful liver transplantation in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). 57
32173240 2020
8
Novel sequence variations in the thymidine phosphorylase gene causing mitochondrial neurogastrointestinal encephalopathy. 6
27261974 2016
9
MNGIE Syndrome: Liver Cirrhosis Should Be Ruled Out Prior to Bone Marrow Transplantation. 6
23430799 2013
10
Poor Outcome in a Mitochondrial Neurogastrointestinal Encephalomyopathy Patient with a Novel TYMP Mutation: The Need for Early Diagnosis. 6
23341816 2012
11
Detection of uniparental isodisomy in autosomal recessive mitochondrial DNA depletion syndrome by high-density SNP array analysis. 57
22011815 2011
12
Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy. 6
21933806 2011
13
Biochemical abnormalities in a patient with thymidine phosphorylase deficiency with fatal outcome. 6
20151198 2010
14
A second MNGIE patient without typical mitochondrial skeletal muscle involvement. 6
20232099 2010
15
Late-onset MNGIE without peripheral neuropathy due to incomplete loss of thymidine phosphorylase activity. 6
19853446 2009
16
Collated mutations in mitochondrial DNA (mtDNA) depletion syndrome (excluding the mitochondrial gamma polymerase, POLG1). 6
19748572 2009
17
Frequency of mitochondrial defects in patients with chronic intestinal pseudo-obstruction. 6
19344718 2009
18
Unbalanced deoxynucleotide pools cause mitochondrial DNA instability in thymidine phosphorylase-deficient mice. 57
19028666 2009
19
Gastrointestinal dysmotility in mitochondrial neurogastrointestinal encephalomyopathy is caused by mitochondrial DNA depletion. 57
18787099 2008
20
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) in two Mexican brothers harboring a novel mutation in the ECGF1 gene. 6
18280229 2008
21
Cognitive dysfunction and hypogonadotrophic hypogonadism in a Brazilian patient with mitochondrial neurogastrointestinal encephalomyopathy and a novel ECGF1 mutation. 6
17437622 2007
22
Mitochondrial neurogastrointestinal encephalomyopathy in three siblings: clinical, genetic and neuroradiological features. 6
17294068 2007
23
Increased muscle nucleoside levels associated with a novel frameshift mutation in the thymidine phosphorylase gene in a Spanish patient with MNGIE. 6
16198108 2005
24
Thymidine phosphorylase mutations cause instability of mitochondrial DNA. 57
15975738 2005
25
Clinicopathological aspects of the neuropathy of neurogastrointestinal encephalomyopathy (MNGIE) in four patients including two with a Charcot-Marie-Tooth presentation. 6
15742109 2005
26
Thymidine phosphorylase gene mutations in patients with mitochondrial neurogastrointestinal encephalomyopathy syndrome. 6
15781193 2005
27
Mitochondrial Neurogastrointestinal Encephalopathy Disease 6
20301358 2005
28
Lack of gastrointestinal symptoms in a 60-year-old patient with MNGIE. 6
15505189 2004
29
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): a disease of two genomes. 6
14720311 2004
30
ND5 is a hot-spot for multiple atypical mitochondrial DNA deletions in mitochondrial neurogastrointestinal encephalomyopathy. 57
14613972 2004
31
Deoxyribonucleotide pool imbalance stimulates deletions in HeLa cell mitochondrial DNA. 57
13679382 2003
32
Elevated plasma deoxyuridine in patients with thymidine phosphorylase deficiency. 57
12646159 2003
33
Four novel thymidine phosphorylase gene mutations in mitochondrial neurogastrointestinal encephalomyopathy syndrome (MNGIE) patients. 6
12529715 2003
34
Deoxyuridine accumulation in urine in thymidine phosphorylase deficiency (MNGIE). 57
12638947 2002
35
Targeted deletion of both thymidine phosphorylase and uridine phosphorylase and consequent disorders in mice. 57
12077348 2002
36
MNGIE: diarrhea and leukoencephalopathy. 6
12084896 2002
37
Diseases caused by nuclear genes affecting mtDNA stability. 57
11579425 2001
38
Maintenance and integrity of the mitochondrial genome: a plethora of nuclear genes in the budding yeast. 57
10839818 2000
39
Partial depletion and multiple deletions of muscle mtDNA in familial MNGIE syndrome. 57
9781534 1998
40
Mitochondrial neurogastrointestinal encephalomyopathy syndrome maps to chromosome 22q13.32-qter. 57
9683610 1998
41
A novel mitochondrial G8313A mutation associated with prominent initial gastrointestinal symptoms and progressive encephaloneuropathy. 6
9380435 1997
42
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical, biochemical, and genetic features of an autosomal recessive mitochondrial disorder. 57
8164833 1994
43
Multiple mitochondrial DNA deletions in myo-neuro-gastrointestinal encephalopathy syndrome. 57
8420360 1993
44
Ophthalmic involvement in myo-neuro-gastrointestinal encephalopathy syndrome. 57
1524123 1992
45
Mutations in mitochondrial tRNA genes: a frequent cause of neuromuscular diseases. 57
1709275 1991
46
Depletion of muscle mitochondrial DNA in AIDS patients with zidovudine-induced myopathy. 57
1671889 1991
47
Polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudo-obstruction: POLIP syndrome. 57
2173474 1990
48
An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region. 57
2725645 1989
49
Myo-, neuro-, gastrointestinal encephalopathy (MNGIE syndrome) due to partial deficiency of cytochrome-c-oxidase. A new mitochondrial multisystem disorder. 57
2823522 1987
50
Autosomal recessive oculopharyngeal muscular dystrophy. 57
1219124 1975

Variations for Mitochondrial Dna Depletion Syndrome 1

ClinVar genetic disease variations for Mitochondrial Dna Depletion Syndrome 1:

6 (show top 50) (show all 219)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TYMP NM_001953.5(TYMP):c.340G>A (p.Asp114Asn) SNV Pathogenic 223024 rs1064792861 GRCh37: 22:50967642-50967642
GRCh38: 22:50529213-50529213
2 TYMP NM_001953.5(TYMP):c.261G>T (p.Glu87Asp) SNV Pathogenic 223021 rs749827433 GRCh37: 22:50967721-50967721
GRCh38: 22:50529292-50529292
3 TYMP NM_001953.5(TYMP):c.605G>A (p.Arg202Lys) SNV Pathogenic 223033 rs121913041 GRCh37: 22:50966058-50966058
GRCh38: 22:50527629-50527629
4 TYMP NM_001953.5(TYMP):c.478T>C (p.Ser160Pro) SNV Pathogenic 223030 rs1064792864 GRCh37: 22:50966979-50966979
GRCh38: 22:50528550-50528550
5 TYMP NM_001953.5(TYMP):c.938T>C (p.Leu313Pro) SNV Pathogenic 223050 rs892141220 GRCh37: 22:50964896-50964896
GRCh38: 22:50526467-50526467
6 TYMP NM_001953.5(TYMP):c.263_264del (p.Thr88fs) Deletion Pathogenic 223079 rs1064792886 GRCh37: 22:50967718-50967719
GRCh38: 22:50529289-50529290
7 TYMP NM_001953.5(TYMP):c.228G>A (p.Met76Ile) SNV Pathogenic 223019 rs1064792859 GRCh37: 22:50967754-50967754
GRCh38: 22:50529325-50529325
8 TYMP NM_001953.5(TYMP):c.715G>A (p.Ala239Thr) SNV Pathogenic 223039 rs1064792869 GRCh37: 22:50965644-50965644
GRCh38: 22:50527215-50527215
9 TYMP NM_001953.5(TYMP):c.623T>G (p.Val208Gly) SNV Pathogenic 223036 rs1064792867 GRCh37: 22:50966040-50966040
GRCh38: 22:50527611-50527611
10 TYMP NM_001953.5(TYMP):c.931G>A (p.Gly311Ser) SNV Pathogenic 223048 rs121913040 GRCh37: 22:50964903-50964903
GRCh38: 22:50526474-50526474
11 TYMP NM_001953.5(TYMP):c.275C>A (p.Thr92Asn) SNV Pathogenic 223022 rs891107196 GRCh37: 22:50967707-50967707
GRCh38: 22:50529278-50529278
12 TYMP NM_001953.5(TYMP):c.398T>C (p.Leu133Pro) SNV Pathogenic 223025 rs1064792862 GRCh37: 22:50967584-50967584
GRCh38: 22:50529155-50529155
13 TYMP NM_001953.5(TYMP):c.112G>T (p.Glu38Ter) SNV Pathogenic 223014 rs1054084896 GRCh37: 22:50968027-50968027
GRCh38: 22:50529598-50529598
14 TYMP NM_001953.5(TYMP):c.518T>G (p.Met173Arg) SNV Pathogenic 223031 rs1064792865 GRCh37: 22:50966145-50966145
GRCh38: 22:50527716-50527716
15 TYMP NM_001953.5(TYMP):c.328C>T (p.Gln110Ter) SNV Pathogenic 223023 rs1064792860 GRCh37: 22:50967654-50967654
GRCh38: 22:50529225-50529225
16 TYMP NM_001953.5(TYMP):c.720del (p.Val241fs) Deletion Pathogenic 223080 rs1064792887 GRCh37: 22:50965639-50965639
GRCh38: 22:50527210-50527210
17 TYMP NM_001953.5(TYMP):c.261G>C (p.Glu87Asp) SNV Pathogenic 223020 rs749827433 GRCh37: 22:50967721-50967721
GRCh38: 22:50529292-50529292
18 TYMP NM_001953.5(TYMP):c.146T>G (p.Leu49Arg) SNV Pathogenic 223017 rs1064792857 GRCh37: 22:50967993-50967993
GRCh38: 22:50529564-50529564
19 TYMP NM_001953.5(TYMP):c.856G>A (p.Glu286Lys) SNV Pathogenic 223043 rs866001342 GRCh37: 22:50965077-50965077
GRCh38: 22:50526648-50526648
20 TYMP NM_001953.5(TYMP):c.760A>C (p.Thr254Pro) SNV Pathogenic 223040 rs1064792870 GRCh37: 22:50965599-50965599
GRCh38: 22:50527170-50527170
21 TYMP NM_001953.5(TYMP):c.467A>G (p.Asp156Gly) SNV Pathogenic 223029 rs1064792863 GRCh37: 22:50966990-50966990
GRCh38: 22:50528561-50528561
22 TYMP NM_001953.5(TYMP):c.401C>A (p.Ala134Glu) SNV Pathogenic 223026 rs199901350 GRCh37: 22:50967581-50967581
GRCh38: 22:50529152-50529152
23 TYMP NM_001953.5(TYMP):c.931G>T (p.Gly311Cys) SNV Pathogenic 223049 rs121913040 GRCh37: 22:50964903-50964903
GRCh38: 22:50526474-50526474
24 TYMP NM_001953.5(TYMP):c.99dup (p.Lys34fs) Duplication Pathogenic 223072 rs1064792880 GRCh37: 22:50968039-50968040
GRCh38: 22:50529610-50529611
25 TYMP NM_001953.5(TYMP):c.893G>A (p.Gly298Asp) SNV Pathogenic 223046 rs1064792872 GRCh37: 22:50965040-50965040
GRCh38: 22:50526611-50526611
26 TYMP NM_001953.5(TYMP):c.530T>C (p.Leu177Pro) SNV Pathogenic 223032 rs1064792866 GRCh37: 22:50966133-50966133
GRCh38: 22:50527704-50527704
27 TYMP NM_001953.4(TYMP):c.929-3G>A SNV Pathogenic 223063 GRCh37:
GRCh38:
28 TYMP NM_001953.5(TYMP):c.131G>A (p.Arg44Gln) SNV Pathogenic 16661 rs28931613 GRCh37: 22:50968008-50968008
GRCh38: 22:50529579-50529579
29 TYMP NM_001953.5(TYMP):c.931G>C (p.Gly311Arg) SNV Pathogenic 16664 rs121913040 GRCh37: 22:50964903-50964903
GRCh38: 22:50526474-50526474
30 TYMP NM_001953.5(TYMP):c.605G>C (p.Arg202Thr) SNV Pathogenic 16665 rs121913041 GRCh37: 22:50966058-50966058
GRCh38: 22:50527629-50527629
31 TYMP NM_001953.5(TYMP):c.854T>C (p.Leu285Pro) SNV Pathogenic 16666 rs121913042 GRCh37: 22:50965079-50965079
GRCh38: 22:50526650-50526650
32 TYMP NM_001953.5(TYMP):c.162C>G (p.Ile54Met) SNV Pathogenic 223018 rs1064792858 GRCh37: 22:50967977-50967977
GRCh38: 22:50529548-50529548
33 TYMP NM_001953.5(TYMP):c.128A>C (p.Lys43Thr) SNV Pathogenic 223015 rs752137335 GRCh37: 22:50968011-50968011
GRCh38: 22:50529582-50529582
34 TYMP NM_001953.5(TYMP):c.707T>C (p.Phe236Ser) SNV Pathogenic 223038 rs1064792868 GRCh37: 22:50965652-50965652
GRCh38: 22:50527223-50527223
35 TYMP NM_001953.5(TYMP):c.784del (p.Ser261_Leu262insTer) Deletion Pathogenic 223081 rs1064792888 GRCh37: 22:50965149-50965149
GRCh38: 22:50526720-50526720
36 TYMP NM_001953.5(TYMP):c.865G>A (p.Glu289Lys) SNV Pathogenic 223044 rs946234163 GRCh37: 22:50965068-50965068
GRCh38: 22:50526639-50526639
37 TYMP NM_001953.5(TYMP):c.847C>G (p.His283Asp) SNV Pathogenic 223041 rs1064792871 GRCh37: 22:50965086-50965086
GRCh38: 22:50526657-50526657
38 TYMP NM_001257988.1(TYMP):c.516+2T>C SNV Pathogenic 16654 rs797044454 GRCh37: 22:50966939-50966939
GRCh38: 22:50528510-50528510
39 TYMP c.52_53delCT Variation Pathogenic 223078 GRCh37:
GRCh38:
40 TYMP NM_001257988.1(TYMP):c.928+1G>A SNV Pathogenic 223062 rs1064792876 GRCh37: 22:50965004-50965004
GRCh38: 22:50526575-50526575
41 TYMP NM_001953.5(TYMP):c.763_765del (p.Leu255del) Deletion Pathogenic 440503 rs1556488264 GRCh37: 22:50965594-50965596
GRCh38: 22:50527165-50527167
42 TYMP NM_001953.5(TYMP):c.628A>C (p.Ser210Arg) SNV Pathogenic 440502 rs761665644 GRCh37: 22:50966035-50966035
GRCh38: 22:50527606-50527606
43 TYMP NM_001953.5(TYMP):c.457G>A (p.Gly153Ser) SNV Pathogenic 16660 rs121913038 GRCh37: 22:50967000-50967000
GRCh38: 22:50528571-50528571
44 SCO2 , TYMP NM_001953.5(TYMP):c.1410dup (p.Ser471fs) Duplication Pathogenic 16657 rs786205097 GRCh37: 22:50964237-50964238
GRCh38: 22:50525808-50525809
45 SCO2 , TYMP NM_001953.5(TYMP):c.1160-1G>C SNV Pathogenic 16658 rs797044455 GRCh37: 22:50964571-50964571
GRCh38: 22:50526142-50526142
46 SCO2 , TYMP NM_001953.5(TYMP):c.1187_1192CGCTGG[1] (p.Ala398_Leu399del) Microsatellite Pathogenic 16659 rs786205098 GRCh37: 22:50964532-50964537
GRCh38: 22:50526103-50526108
47 SCO2 , TYMP NM_001953.5(TYMP):c.1320dup (p.His441fs) Duplication Pathogenic 223075 rs1556486107 GRCh37: 22:50964327-50964328
GRCh38: 22:50525898-50525899
48 SCO2 , TYMP NM_001953.5(TYMP):c.1412C>A (p.Ser471Ter) SNV Pathogenic 223058 rs11479 GRCh37: 22:50964236-50964236
GRCh38: 22:50525807-50525807
49 SCO2 , TYMP NM_001953.5(TYMP):c.1282G>A (p.Gly428Ser) SNV Pathogenic 223055 rs1064792874 GRCh37: 22:50964448-50964448
GRCh38: 22:50526019-50526019
50 SCO2 , TYMP NM_001953.5(TYMP):c.1160-2A>C SNV Pathogenic 223067 rs1064792877 GRCh37: 22:50964572-50964572
GRCh38: 22:50526143-50526143

UniProtKB/Swiss-Prot genetic disease variations for Mitochondrial Dna Depletion Syndrome 1:

72
# Symbol AA change Variation ID SNP ID
1 TYMP p.Gly145Arg VAR_007643 rs121913037
2 TYMP p.Gly153Ser VAR_007644 rs121913038
3 TYMP p.Lys222Arg VAR_007645 rs149977726
4 TYMP p.Glu289Ala VAR_007646 rs121913036
5 TYMP p.Arg44Gln VAR_016777 rs28931613

Expression for Mitochondrial Dna Depletion Syndrome 1

Search GEO for disease gene expression data for Mitochondrial Dna Depletion Syndrome 1.

Pathways for Mitochondrial Dna Depletion Syndrome 1

Pathways related to Mitochondrial Dna Depletion Syndrome 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
9.53 TYMP SCO2

GO Terms for Mitochondrial Dna Depletion Syndrome 1

Cellular components related to Mitochondrial Dna Depletion Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrial matrix GO:0005759 9.63 UQCC2 TFB2M TFB1M TEFM SCO2 PRIMPOL
2 mitochondrion GO:0005739 9.61 UQCC2 TFB2M TFB1M TEFM SCO2 PRIMPOL
3 mitochondrial nucleoid GO:0042645 9.02 UQCC2 TFB2M TFB1M TEFM POLG

Biological processes related to Mitochondrial Dna Depletion Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA metabolic process GO:0006259 9.43 TEFM POLG
2 rRNA methylation GO:0031167 9.4 TFB2M TFB1M
3 mitochondrial transcription GO:0006390 9.37 TFB2M TEFM
4 rRNA modification GO:0000154 9.32 TFB2M TFB1M
5 mitochondrial DNA repair GO:0043504 9.26 PRIMPOL MGME1
6 transcription initiation from mitochondrial promoter GO:0006391 9.16 TFB2M TFB1M
7 mitochondrial genome maintenance GO:0000002 9.13 TYMP MPV17 MGME1
8 mitochondrial DNA replication GO:0006264 8.92 TEFM PRIMPOL POLG MGME1

Molecular functions related to Mitochondrial Dna Depletion Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA-directed DNA polymerase activity GO:0003887 9.26 PRIMPOL POLG
2 rRNA methyltransferase activity GO:0008649 9.16 TFB2M TFB1M
3 mitochondrial sequence-specific DNA-binding transcription factor activity GO:0034246 8.96 TFB2M TFB1M
4 rRNA (adenine-N6,N6-)-dimethyltransferase activity GO:0000179 8.62 TFB2M TFB1M

Sources for Mitochondrial Dna Depletion Syndrome 1

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
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37 LifeMap
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44 MeSH
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51 NDF-RT
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56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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