MTDPS1
MCID: MTC061
MIFTS: 34

Mitochondrial Dna Depletion Syndrome 1 (MTDPS1) malady

Categories: Genetic diseases (common), Metabolic diseases, Gastrointestinal diseases, Neuronal diseases

Aliases & Classifications for Mitochondrial Dna Depletion Syndrome 1

About this section

Aliases & Descriptions for Mitochondrial Dna Depletion Syndrome 1:

Name: Mitochondrial Dna Depletion Syndrome 1 52 11 27 12
Polyneuropathy Ophthalmoplegia Leukoencephalopathy and Intestinal Pseudoobstruction 70
Mitochondrial Neurogastrointestinal Encephalopathy Syndrome Tymp-Related 70
Mitochondrial Neurogastrointestinal Encephalopathy Syndrome 68
Mitochondrial Neurogastrointestinal Encephalomyopathy 70
 
Mitochondrial Dna Depletion Syndrome 1, Mngie Type 70
Myoneurogastrointestinal Encephalomyopathy 70
Polip Syndrome 70
Mtdps1 70

Characteristics:

HPO:

64
mitochondrial dna depletion syndrome 1:
Inheritance: autosomal recessive inheritance
Onset and clinical course: progressive
Mortality/Aging: death in early adulthood

Classifications:



External Ids:

OMIM52 603041
Disease Ontology11 DOID:0080119
MedGen37 C0872218
MeSH39 D017237

Summaries for Mitochondrial Dna Depletion Syndrome 1

About this section
OMIM:52 Mitochondrial DNA depletion syndrome-1 (MTDPS1) is an autosomal recessive progressive multisystem disorder clinically... (603041) more...

MalaCards based summary: Mitochondrial Dna Depletion Syndrome 1, also known as polyneuropathy ophthalmoplegia leukoencephalopathy and intestinal pseudoobstruction, is related to mitochondrial neurogastrointestinal encephalomyopathy and encephalomyopathy, and has symptoms including abdominal pain, abdominal pain and vomiting. An important gene associated with Mitochondrial Dna Depletion Syndrome 1 is TYMP (Thymidine Phosphorylase).

UniProtKB/Swiss-Prot:70 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

About this section

Diseases related to Mitochondrial Dna Depletion Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 45)
idRelated DiseaseScoreTop Affiliating Genes
1mitochondrial neurogastrointestinal encephalomyopathy12.4
2encephalomyopathy10.9
3mitochondrial neurogastrointestinal encephalopathy disease10.9
4mitochondrial dna depletion syndrome 610.7
5mitochondrial dna depletion syndrome 310.7
6mitochondrial dna depletion syndrome 910.7
7mitochondrial dna depletion syndrome 1210.7
8mitochondrial dna depletion syndrome 1310.7
9mitochondrial dna depletion syndrome 8a10.7
10mitochondrial dna depletion syndrome 710.7
11mitochondrial dna depletion syndrome 510.7
12mitochondrial dna depletion syndrome 4b10.7
13mitochondrial dna depletion syndrome 4a10.7
14mitochondrial dna depletion syndrome 210.7
15mitochondrial dna depletion syndrome 1110.7
16anorexia nervosa10.1
17hypogonadism10.1
18peritonitis10.1
19nonsyndromic 46,xx testicular disorders of sex development10.0POLG, TYMP
20idiopathic dropped head syndrome10.0POLG, TYMP
21trigeminal neuralgia10.0
22endocarditis10.0
23esophagitis10.0
24cerebritis10.0
25intestinal pseudo-obstruction10.0
26polyradiculoneuropathy10.0
27chronic inflammatory demyelinating polyradiculoneuropathy10.0
28diverticulitis10.0
29mitochondrial disorders10.0
30brainstem auditory evoked responses10.0
31deafness, autosomal dominant 3010.0POLG, TYMP
32pontocerebellar hypoplasia9.9POLG, TYMP
33pellagra9.9MT-TK, TYMP
34nerve fibre bundle defect9.8MT-TK, POLG
35bjornstad syndrome9.8MT-TK, POLG
36polyneuropathy9.8
37mucinous intrahepatic cholangiocarcinoma9.8MT-TK, POLG
38mast cell neoplasm9.7MT-TK, POLG
39megalencephalic leukoencephalopathy with subcortical cysts9.7MT-TK, POLG, TYMP
40growth hormone deficiency, isolated partial9.7MT-TK, POLG, TYMP
41dyscalculia9.7MT-TK, POLG, TYMP
42chronic lacrimal gland enlargement9.7MT-TK, POLG, TYMP
43myoclonic epilepsy associated with ragged-red fibers9.7MT-TK, POLG, TYMP
44mental retardation with spastic paraplegia9.7MT-TK, POLG, TYMP
45nkx2-1-related disorders9.7MT-TK, POLG, TYMP

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

About this section

Symptoms by clinical synopsis from OMIM:

603041

Clinical features from OMIM:

603041

Human phenotypes related to Mitochondrial Dna Depletion Syndrome 1:

 64 (show all 24)
id Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment64 HP:0000407
2 ptosis64 HP:0000508
3 progressive external ophthalmoplegia64 HP:0000590
4 areflexia64 HP:0001284
5 vomiting64 HP:0002013
6 constipation64 HP:0002019
7 malabsorption64 HP:0002024
8 abdominal pain64 HP:0002027
9 intermittent diarrhea64 HP:0002254
10 leukoencephalopathy64 HP:0002352
11 distal muscle weakness64 HP:0002460
12 gastroparesis64 HP:0002578
13 gastrointestinal dysmotility64 HP:0002579
14 distal sensory impairment64 HP:0002936
15 lactic acidosis64 HP:0003128
16 ragged-red muscle fibers64 HP:0003200
17 subsarcolemmal accumulations of abnormally shaped mitochondria64 HP:0003548
18 decreased activity of cytochrome c oxidase in muscle tissue64 HP:0003688
19 multiple mitochondrial dna deletions64 HP:0003689
20 distal amyotrophy64 HP:0003693
21 mitochondrial myopathy64 HP:0003737
22 cachexia64 HP:0004326
23 malnutrition64 HP:0004395
24 hypointensity of cerebral white matter on mri64 HP:0007103

UMLS symptoms related to Mitochondrial Dna Depletion Syndrome 1:


abdominal pain, vomiting, intermittent diarrhea, chronic constipation

Drugs & Therapeutics for Mitochondrial Dna Depletion Syndrome 1

About this section

Drugs for Mitochondrial Dna Depletion Syndrome 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 23)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Cysteamineapproved, investigationalPhase 22760-23-16058
Synonyms:
(2-Mercaptoethyl)amine
(Mercaptoethyl)ammonium toluene-p-sulphonate
.beta.-Mercaptoethylamine
1-Amino-2-mercaptoethylamine
139720-70-0
156-57-0 (hydrochloride)
16904-32-8 (di-hydrochloride)
2-AMINO-ETHANETHIOL
2-AMINO-ethanethiol
2-Amino-1-ethanethiol
2-Aminoethanethiol
2-Aminoethyl mercaptan
2-Mercaptoethanamine
2-Mercaptoethylamine
2-Mercaptoethylamine, polymer-bound
27761-19-9 (tartrate (1:1))
2DFDA1F8-7010-4225-8280-AB1C4C43F546
30070_FLUKA
30070_SIGMA
3037-04-5
3037-04-5 (tosylate)
42954-15-4 (hydrobromide)
60-23-1
60-23-1 (Parent)
641022_ALDRICH
93965-19-6 (maleate (1:1))
A0648
AC1L1LPL
AC1Q54NL
AKOS003793343
Aminoethyl mercaptan
Becaptan
C-9500
C01678
C2H7NS
CASH
CCRIS 3083
CHEBI:17141
CHEMBL602
CID6058
CYSTEAMINE
Cisteamina
Cisteamina [Italian]
Cystavision
Cysteamide
Cysteamin
Cysteamine
Cysteamine (USAN)
Cysteamine [USAN:BAN]
Cysteamine bitartate
Cysteamine hydrochloride
Cysteaminium
Cysteinamine
D03634
DB00847
Decarboxycysteine
DivK1c_006750
 
EINECS 200-463-0
EINECS 221-235-7
Ethanethiolamine
HSDB 7353
KBio1_001694
KBio2_002235
KBio2_004803
KBio2_007371
KBioSS_002235
L 1573
L-1573
LS-65761
Lambraten
Lambratene
Lopac-M-6500
M9768_ALDRICH
M9768_SIGMA
MEA
MEA (mercaptan)
Mecramine
Mercamin
Mercamine
Mercaptamin
Mercaptamina
Mercaptamina [INN-Spanish]
Mercaptamine
Mercaptamine (INN)
Mercaptaminum
Mercaptaminum [INN-Latin]
Mercaptoethylamine
Merkamin
MolPort-001-662-635
NCGC00015691-01
NCGC00015691-04
NCGC00162236-01
NCI60_002000
NSC 647528
NSC647528
Riacon
STK315355
SpecPlus_000654
Spectrum_001755
Thioethanolamine
UNII-5UX2SD1KE2
WR 347
b-Aminoethanethiol
b-Aminoethylthiol
b-Mercaptoethylamine
beta-Aminoethanethiol
beta-Aminoethylthiol
beta-MEA
beta-Mercaptoethylamine
bmse000388
cysteamine bitartrate
nchembio.315-comp1
nchembio.316-comp1
β-MEA
β-aminoethylthiol
2
Celecoxibapproved, investigationalPhase 2444169590-42-52662
Synonyms:
169590-42-5
184007-95-2
1oq5
4-(5-(4-Methylphenyl)-3-(trifluoromethyl)-1H-pyrazol-1-yl)benzenesulfonamide
4-[5-(4-METHYLPHENYL)-3-(TRIFLUOROMETHYL)-1H-PYRAZOL-1-YL]BENZENESULFONAMIDE
4-[5-(4-methylphenyl)-3-(trifluoromethyl)-1Hpyrazol-1-yl] benzenesulfonamide
4-[5-(4-methylphenyl)-3-(trifluoromethyl)pyrazol-1-yl]benzenesulfonamide
AC-4228
AC1L1E6K
AI-525
BIDD:GT0408
BRD-K02637541-001-02-4
BSPBio_003596
Benzenesulfonamide,4-(5-(4-methylphenyl)-3-(trifluoromethyl)-1H-pyrazol-1-yl)
C07589
C105934
C17H14F3N3O2S
CCRIS 8679
CEL
CEP-33222
CHEBI:41423
CHEMBL118
CID2662
CPD000550473
Celebra
Celebrex
Celebrex (TN)
Celebrex, Celebra, Celecoxib
Celecox
Celecoxi
Celecoxib
Celecoxib (JAN/USAN/INN)
Celecoxib (SC-58635)
Celecoxib [Old RN]
Celecoxib [USAN]
Celecoxibum
Celocoxib
Célécoxib
D00567
DB00482
DivK1c_000893
Eurocox
FT-0080064
HMS1922G14
HMS2089L18
HMS2093I07
HMS502M15
HSDB 7038
I01-1033
IDI1_000893
KBio1_000893
KBio2_000912
 
KBio2_002351
KBio2_003480
KBio2_004919
KBio2_006048
KBio2_007487
KBio3_002830
KBio3_003037
KBioGR_000723
KBioGR_002351
KBioSS_000912
KBioSS_002354
LS-31667
MLS001165684
MLS001195656
MLS001304708
Medicoxib
MolPort-002-885-815
NCGC00091455-01
NCGC00091455-02
NCGC00091455-03
NCGC00091455-04
NCI60_041049
NINDS_000893
NSC719627
Onsenal
P-(5-P-Tolyl-3-(trifluoromethyl)pyrazol-1-yl)benzenesulfonamide
Pfizer brand of celecoxib
S1261_Selleck
SAM002589995
SC 58635
SC-58553, SC-58635
SC-58635
SC58635
SMR000550473
SPBio_001512
SPECTRUM1503678
Solexa
Spectrum2_001576
Spectrum3_001996
Spectrum4_000182
Spectrum5_001324
Spectrum_000432
TL8001323
TPI-336
UNM-0000305813
Xilebao
YM 177
YM-177
YM177
ZINC02570895
cMAP_000027
celecoxib
p-(5-p-Tolyl-3-(trifluoromethyl)pyrazol-1-yl)benzenesulfonamide
3
rituximabapprovedPhase 21692174722-31-710201696
Synonyms:
AntiCD20
IDEC-102
IDEC-C2B8
 
Ig gamma-1 chain C region
MabThera
Mabthera
Rituxan
rituximab
4
ThiotepaapprovedPhase 222652-24-45453
Synonyms:
 
Thioplex
5
Busulfanapproved, investigationalPhase 254555-98-12478
Synonyms:
1, 4-Dimethanesulfonoxybutane
1, 4-Dimethylsulfonoxybutane
1, {4-Bis[methanesulfonoxy]butane}
1,4-BUTANEDIOL DIMETHANESULFONATE
1,4-Bis(methanesulfonoxy)butane
1,4-Bis(methanesulfonyloxy)butane
1,4-Bis[methanesulfonoxy]butane
1,4-Butanedi yl dimethanesulfonate
1,4-Butanediol dimethanesulfonate
1,4-Butanediol dimethanesulphonate
1,4-Butanediol dimethylsulfonate
1,4-Butanediol, dimethanesulfonate
1,4-Butanediol, dimethanesulphonate
1,4-Butanediyl dimethanesulfonate
1,4-Di(methylsulfonoxy)butane
1,4-Dimesyloxybutane
1,4-Dimethane sulfonyl oxybutane
1,4-Dimethanesulfonoxybutane
1,4-Dimethanesulfonoxylbutane
1,4-Dimethanesulfonyloxybutane
1,4-Dimethanesulphonyloxybutane
1,4-Dimethylsulfonoxybutane
1,4-Dimethylsulfonyloxybutane
2041 C. B
2041 C. B.
2041 C.B
2041 C.B.
4-((Methylsulfonyl)oxy)butyl methanesulfonate
4-methylsulfonyloxybutyl methanesulfonate
55-98-1
AC-198
AC1L1DRQ
AC1Q4GRQ
AI3-25012
AKOS003614975
AN 33501
Ambap55-98-1
B1022
B2635_FLUKA
B2635_SIGMA
BRN 1791786
BSPBio_001920
BUSULFAN (1,4-BUTANEDIOL, DIMETHANESULFONATE)
Bisulfex
Busilvex
Busulfan
Busulfan (JP15/USP/INN)
Busulfan GlaxoSmithKline Brand
Busulfan Orphan Brand
Busulfan Wellcome
Busulfan Wellcome Brand
Busulfan [INN:JAN]
Busulfano
Busulfano [INN-Spanish]
Busulfanum
Busulfanum [INN-Latin]
Busulfex
Busulphan
Busulphane
Butanedioldimethanesulfonate
Buzulfan
C.B. 2041
C6H14O6S2
CB 2041
CCRIS 418
CHEBI:28901
CHEMBL820
CID2478
CPD000058613
Citosulfan
D002066
D00248
DB01008
DivK1c_000847
EINECS 200-250-2
FT-0083567
G.T. 41
GT 2041
GT 41
Glaxo Wellcome Brand of Busulfan
GlaxoSmithKline Brand of Busulfan
Glyzophrol
HMS1920I07
HMS2091O09
HMS502K09
 
HSDB 7605
I09-1371
IDI1_000847
InChI=1/C6H14O6S2/c1-13(7,8)11-5-3-4-6-12-14(2,9)10/h3-6H2,1-2H3
KBio1_000847
KBio2_000512
KBio2_003080
KBio2_005648
KBio3_001420
KBioGR_000698
KBioSS_000512
LS-1358
Leucosulfan
MLS001076666
MYLERAN (TN)
Mablin
Methanesulfonic
Methanesulfonic acid, tetram ethylene ester
Methanesulfonic acid, tetramethylene ester
Mielevcin
Mielosan
Mielucin
Milecitan
Mileran
Misulban
Mitosan
Mitostan
MolPort-001-783-406
Myeleukon
Myeloleukon
Myelosan
Myelosanum
Mylecytan
Myleran
Myleran Tablets
Myleran tablets
Myleran, Busulfex, Busulfan
Mylerlan
NCGC00090905-01
NCGC00090905-02
NCGC00090905-03
NCGC00090905-04
NCGC00090905-05
NCGC00090905-06
NCGC00090905-07
NCI-C01592
NCI60_041640
NCIMech_000192
NINDS_000847
NSC 750
NSC-750
NSC-750sulphabutin
NSC750
Orphan Brand of Busulfan
Prestwick_989
S1692_Selleck
SAM002554887
SMR000058613
SPBio_000253
SPECTRUM1500152
ST50825921
Spectrum2_000067
Spectrum3_000320
Spectrum4_000259
Spectrum5_000928
Spectrum_000092
Sulfabutin
Sulfabutin (VAN)
Sulphabutin
Tetramethylene Dimethane Sulfonate
Tetramethylene bis(methanesulfonate)
Tetramethylene bis[methanesulfonate]
Tetramethylene dimethane sulfonate
Tetramethylene {bis[methanesulfonate]}
Tetramethylenester Kyseliny Methansulfonove
Tetramethylenester kyseliny methansulfonove
Tetramethylenester kyseliny methansulfonove [Czech]
UNII-G1LN9045DK
WLN: WS1&O4OSW1
Wellcome Brand of Busulfan
Wellcome, Busulfan
X 149
acid, tetramethylene ester
alkylating agent: crosslinks guanine residues
busulfan
butane-1,4-diyl dimethanesulfonate
n-Butane-1,3-di(methylsulfonate)
6
FludarabineapprovedPhase 2115421679-14-1, 75607-67-930751
Synonyms:
(2R,3S,4S,5R)-2-(6-amino-2-fluoro-9H-purin-9-yl)-5-(hydroxymethyl)oxolane-3,4-diol
(2R,3S,4S,5R)-2-(6-amino-2-fluoropurin-9-yl)-5-(hydroxymethyl)oxolane-3,4-diol
2-F-ARAA
2-F-ara-A
2-Fluoro Ara-A
2-Fluoro-9-beta-D-arabinofuranosyladenine
2-fluoro ARA-A
21679-14-1
9-beta-D-Arabinofuranosyl-2-fluoroadenine
9-beta-D-arabinofuranosyl-2-fluoro-9H-purin-6-amine
9H-Purin-6-amine, 9-beta-D-arabinofuranosyl-2-fluoro- (9CI)
AC1LCW8I
AC1Q51CF
C10H12FN5O4
CCRIS 3382
CHEMBL1568
CID657237
CPD000058874
D07966
EINECS 244-525-5
F-Ara-A
FAMP
FT-0082766
FaraA
Fludara
Fludara, Fludarabine
 
Fludarabina
Fludarabina [Spanish]
Fludarabine
Fludarabine (INN)
Fludarabine 5'-monophosphate
Fludarabine [INN]
Fludarabine monophosphate
Fludarabine phosphate
Fludarabinum
Fludarabinum [Latin]
Fludura
Fluradosa
Fluradosa (TN)
HSDB 6964
I14-4978
LS-15061
MLS000028687
NSC 118218
NSC 118218H
NSC-118218
S1491_Selleck
SAM002548956
SMR000058874
SQ Fludarabine
UNII-1X9VK9O1SC
UNII-P2K93U8740
ZINC04216238
7
Acetylcysteineapproved, investigationalPhase 2330616-91-112035
Synonyms:
(2R)-2-acetylamino-3-sulfanylpropanoic acid
(R)-2-acetylamino-3-mercaptopropanoic acid
(R)-mercapturic acid
2-Acetylamino-3-mercapto-propionate
2-Acetylamino-3-mercapto-propionic acid
ACC
Acetadote
Acetilcisteina
Acetylcysteine
Acetylcysteinum
Fluimicil Infantil
Fluimucetin
Fluimucil
Flumucetin
Fluprowit
 
L-Acetylcysteine
L-acetylcysteine
L-α-acetamido-β-mercaptopropionic acid
Lysox
Mercapturic acid
Mucolysin
Mucomyst
N-Acety-L-Cysteine
N-Acetyl-3-mercaptoalanine
N-Acetyl-L-(+)-cysteine
N-Acetylcysteine
N-acetyl-L-(+)-cysteine
N-acetyl-L-cysteine
N-acetylcysteine
NAC
Parvolex
Sodium 2-acetamido-3-mercaptopropionate
8
alemtuzumabapproved, investigationalPhase 2310216503-57-0
Synonyms:
Campath
 
MabCampath
alemtuzumab
9
Vitamin Eapproved, nutraceutical, vet_approvedPhase 241459-02-914985
Synonyms:
(+)-a-Tocopherol
(+)-alpha-Tocopherol
(+)-α-tocopherol
(2R)-2,5,7,8-TETRAMETHYL-2-[(4R,8R)-4,8,12-TRIMETHYLTRIDECYL]CHROMAN-6-OL
(2R)-3,4-Dihydro-2,5,7,8-tetramethyl-2-[(4R,8R)-4,8,12-trimethyltridecyl]-2H-1-benzopyran-6-ol
(2R,4'R,8'R)-a-Tocopherol
(2R,4'R,8'R)-alpha-Tocopherol
(2R,4'R,8'R)-α-tocopherol
(R,R,R)-a-Tocopherol
(R,R,R)-alpha-Tocopherol
(R,R,R)-α-tocopherol
5,7,8-Trimethyltocol
5,7,8-trimethyltocol
Amino-Opti-E
Aquasol E
D-alpha-Tocopherol
Daltose
Denamone
E-200 I.U. Softgels
 
E-Complex-600
E-Ferol
E-Vitamin succinate
Eprolin
Gordo-Vite E
Phytogermin
Phytogermine
RRR-alpha-tocopherol
RRR-alpha-tocopheryl
Tocopherol
Vitamin E
Vitamin Ea
Vitamin Plus E Softgells
Vitec
a-D-Tocopherol
a-Tocopherol
alpha-Tocopherol
alpha-delta-Tocopherol
alpha-tocopherol
d-α-tocopherol
delta-alpha-Tocopherol
10Antimetabolites, AntineoplasticPhase 27361
11TocopherolsPhase 2414
12TocotrienolsPhase 2410
13Antineoplastic Agents, AlkylatingPhase 24603
14VitaminsPhase 25282
15Thioctic AcidPhase 2118
16Alkylating AgentsPhase 24827
17Antilymphocyte SerumPhase 2408
18AntimetabolitesPhase 212054
19Immunosuppressive AgentsPhase 213086
20N-monoacetylcystinePhase 2330
21Alpha-lipoic AcidNutraceuticalPhase 2118
22TocopherolNutraceuticalPhase 2414
23TocotrienolNutraceuticalPhase 2410

Interventional clinical trials:

idNameStatusNCT IDPhase
1A Long-Term Extension Study of RP103-MITO-001 (NCT02023866) to Assess RP103 in Children With Inherited Mitochondrial DiseaseCompletedNCT02473445Phase 2
2MT2013-31: Allo HCT for Metabolic Disorders and Severe OsteopetrosisRecruitingNCT02171104Phase 2
3MNGIE Allogeneic Hematopoietic Stem Cell Transplant Safety StudyRecruitingNCT02427178Phase 1
4Identification of Large-Scale Mutations of POLG Gene by QMPSF in Patients With Mitochondrial DNA Instability.Unknown statusNCT00831948
5The Natural History Study of Mitochondrial NeuroGastroIntestinal Encephalopathy (MNGIE)RecruitingNCT01694953
6North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC)RecruitingNCT01694940
7Tissue Sample Study for Mitochondrial DisordersEnrolling by invitationNCT01803906

Search NIH Clinical Center for Mitochondrial Dna Depletion Syndrome 1

Genetic Tests for Mitochondrial Dna Depletion Syndrome 1

About this section

Genetic tests related to Mitochondrial Dna Depletion Syndrome 1:

id Genetic test Affiliating Genes
1 Mitochondrial Dna Depletion Syndrome 1 (mngie Type)27

Anatomical Context for Mitochondrial Dna Depletion Syndrome 1

About this section

Publications for Mitochondrial Dna Depletion Syndrome 1

About this section

Variations for Mitochondrial Dna Depletion Syndrome 1

About this section

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

70
id Symbol AA change Variation ID SNP ID
1TYMPp.Gly145ArgVAR_007643rs121913037
2TYMPp.Gly153SerVAR_007644rs121913038
3TYMPp.Lys222ArgVAR_007645rs149977726
4TYMPp.Glu289AlaVAR_007646rs121913036
5TYMPp.Arg44GlnVAR_016777rs28931613

Clinvar genetic disease variations for Mitochondrial Dna Depletion Syndrome 1:

5 (show all 75)
id Gene Variation Type Significance SNP ID Assembly Location
1TYMPNM_ 001113755.2(TYMP): c.866A> C (p.Glu289Ala)SNVPathogenicrs121913036GRCh37Chr 22, 50965067: 50965067
2TYMPNM_ 001257988.1(TYMP): c.418_ 516delSNVPathogenicrs797044454GRCh38Chr 22, 50528510: 50528510
3TYMPNM_ 001113755.2(TYMP): c.433G> A (p.Gly145Arg)SNVPathogenicrs121913037GRCh37Chr 22, 50967024: 50967024
4TYMPNM_ 001257988.1(TYMP): c.665A> G (p.Lys222Arg)SNVPathogenicrs149977726GRCh37Chr 22, 50965694: 50965694
5TYMPNM_ 001257988.1(TYMP): c.1410dupC (p.Ser471Leufs)duplicationPathogenicrs786205097GRCh37Chr 22, 50964238: 50964238
6TYMPNM_ 001953.4(TYMP): c.1160_ 1300delSNVPathogenicrs797044455GRCh37Chr 22, 50964571: 50964571
7TYMPNM_ 001257988.1(TYMP): c.1193_ 1198delCGCTGG (p.Ala398_ Leu399del)deletionPathogenicrs786205098GRCh37Chr 22, 50964532: 50964537
8TYMPNM_ 001113755.2(TYMP): c.457G> A (p.Gly153Ser)SNVPathogenicrs121913038GRCh37Chr 22, 50967000: 50967000
9TYMPNM_ 001113755.2(TYMP): c.131G> A (p.Arg44Gln)SNVPathogenicrs28931613GRCh37Chr 22, 50968008: 50968008
10TYMPNM_ 001953.4(TYMP): c.215_ 417delSNVPathogenicrs767245071GRCh37Chr 22, 50967768: 50967768
11TYMPNM_ 001953.4(TYMP): c.622G> A (p.Val208Met)SNVPathogenic/ Likely pathogenicrs121913039GRCh37Chr 22, 50966041: 50966041
12TYMPNM_ 001113755.2(TYMP): c.931G> C (p.Gly311Arg)SNVPathogenicrs121913040GRCh37Chr 22, 50964903: 50964903
13TYMPNM_ 001113755.2(TYMP): c.605G> C (p.Arg202Thr)SNVPathogenicrs121913041GRCh37Chr 22, 50966058: 50966058
14TYMPNM_ 001113755.2(TYMP): c.854T> C (p.Leu285Pro)SNVPathogenicrs121913042GRCh37Chr 22, 50965079: 50965079
15TYMPNM_ 001257989.1(TYMP): c.112G> T (p.Glu38Ter)SNVPathogenicrs1054084896GRCh38Chr 22, 50529598: 50529598
16TYMPNM_ 001257989.1(TYMP): c.128A> C (p.Lys43Thr)SNVPathogenicrs752137335GRCh38Chr 22, 50529582: 50529582
17TYMPNM_ 001257989.1(TYMP): c.146T> G (p.Leu49Arg)SNVPathogenicGRCh38Chr 22, 50529564: 50529564
18TYMPNM_ 001257989.1(TYMP): c.162C> G (p.Ile54Met)SNVPathogenicGRCh37Chr 22, 50967977: 50967977
19TYMPNM_ 001257989.1(TYMP): c.228G> A (p.Met76Ile)SNVPathogenicGRCh37Chr 22, 50967754: 50967754
20TYMPNM_ 001257989.1(TYMP): c.261G> C (p.Glu87Asp)SNVPathogenicrs749827433GRCh38Chr 22, 50529292: 50529292
21TYMPNM_ 001257989.1(TYMP): c.261G> T (p.Glu87Asp)SNVPathogenicrs749827433GRCh38Chr 22, 50529292: 50529292
22TYMPNM_ 001257989.1(TYMP): c.275C> A (p.Thr92Asn)SNVPathogenicrs891107196GRCh37Chr 22, 50967707: 50967707
23TYMPNM_ 001257989.1(TYMP): c.328C> T (p.Gln110Ter)SNVPathogenicGRCh37Chr 22, 50967654: 50967654
24TYMPNM_ 001257989.1(TYMP): c.340G> A (p.Asp114Asn)SNVPathogenicGRCh38Chr 22, 50529213: 50529213
25TYMPNM_ 001257989.1(TYMP): c.398T> C (p.Leu133Pro)SNVPathogenicGRCh38Chr 22, 50529155: 50529155
26TYMPNM_ 001257989.1(TYMP): c.401C> A (p.Ala134Glu)SNVPathogenicrs199901350GRCh38Chr 22, 50529152: 50529152
27TYMPNM_ 001257988.1(TYMP): c.467A> G (p.Asp156Gly)SNVPathogenicGRCh38Chr 22, 50528561: 50528561
28TYMPNM_ 001257989.1(TYMP): c.478T> C (p.Ser160Pro)SNVPathogenicGRCh38Chr 22, 50528550: 50528550
29TYMPNM_ 001257988.1(TYMP): c.518T> G (p.Met173Arg)SNVPathogenicGRCh38Chr 22, 50527716: 50527716
30TYMPNM_ 001257989.1(TYMP): c.530T> C (p.Leu177Pro)SNVPathogenicGRCh37Chr 22, 50966133: 50966133
31TYMPNM_ 001257989.1(TYMP): c.605G> A (p.Arg202Lys)SNVPathogenicrs121913041GRCh38Chr 22, 50527629: 50527629
32TYMPNM_ 001257989.1(TYMP): c.623T> G (p.Val208Gly)SNVPathogenicGRCh37Chr 22, 50966040: 50966040
33TYMPNM_ 001257988.1(TYMP): c.707T> C (p.Phe236Ser)SNVPathogenicGRCh37Chr 22, 50965652: 50965652
34TYMPNM_ 001257989.1(TYMP): c.715G> A (p.Ala239Thr)SNVPathogenicGRCh37Chr 22, 50965644: 50965644
35TYMPNM_ 001257988.1(TYMP): c.760A> C (p.Thr254Pro)SNVPathogenicGRCh38Chr 22, 50527170: 50527170
36TYMPNM_ 001257989.1(TYMP): c.847C> G (p.His283Asp)SNVPathogenicGRCh37Chr 22, 50965086: 50965086
37TYMPNM_ 001257988.1(TYMP): c.856G> A (p.Glu286Lys)SNVPathogenicrs866001342GRCh37Chr 22, 50965077: 50965077
38TYMPNM_ 001257989.1(TYMP): c.865G> A (p.Glu289Lys)SNVPathogenicrs946234163GRCh37Chr 22, 50965068: 50965068
39TYMPNM_ 001257988.1(TYMP): c.893G> A (p.Gly298Asp)SNVPathogenicGRCh37Chr 22, 50965040: 50965040
40TYMPNM_ 001257988.1(TYMP): c.931G> A (p.Gly311Ser)SNVPathogenicrs121913040GRCh38Chr 22, 50526474: 50526474
41TYMPNM_ 001257988.1(TYMP): c.931G> T (p.Gly311Cys)SNVPathogenicrs121913040GRCh37Chr 22, 50964903: 50964903
42TYMPNM_ 001257989.1(TYMP): c.938T> C (p.Leu313Pro)SNVPathogenicrs892141220GRCh38Chr 22, 50526467: 50526467
43TYMPNM_ 001257989.1(TYMP): c.1067T> C (p.Leu356Pro)SNVPathogenicrs1060499532GRCh37Chr 22, 50964767: 50964767
44TYMPNM_ 001257988.1(TYMP): c.1112T> C (p.Leu371Pro)SNVPathogenicrs1060499533GRCh37Chr 22, 50964722: 50964722
45TYMPNM_ 001257988.1(TYMP): c.1159G> A (p.Gly387Ser)SNVPathogenicrs1060499534GRCh38Chr 22, 50526246: 50526246
46TYMPNM_ 001257989.1(TYMP): c.1175G> A (p.Gly392Asp)SNVPathogenicGRCh37Chr 22, 50964570: 50964570
47TYMPNM_ 001257989.1(TYMP): c.1297G> A (p.Gly433Ser)SNVPathogenicGRCh38Chr 22, 50526019: 50526019
48TYMPNM_ 001257989.1(TYMP): c.1326G> A (p.Trp442Ter)SNVPathogenicGRCh37Chr 22, 50964337: 50964337
49TYMPNM_ 001257989.1(TYMP): c.1375G> C (p.Ala459Pro)SNVPathogenicrs764275775GRCh38Chr 22, 50525859: 50525859
50TYMPNM_ 001257988.1(TYMP): c.1412C> A (p.Ser471Ter)SNVPathogenicrs11479GRCh38Chr 22, 50525807: 50525807
51TYMPNM_ 001953.4(TYMP): c.928+1G> ASNVPathogenicGRCh37Chr 22, 50965004: 50965004
52TYMPNM_ 001953.4(TYMP): c.929-3G> ASNVPathogenic
53TYMPNM_ 001257989.1(TYMP): c.1174G> A (p.Gly392Ser)SNVPathogenicrs797044455GRCh38Chr 22, 50526142: 50526142
54TYMPNM_ 001953.4(TYMP): c.1159+2T> ASNVPathogenicrs770277446GRCh37Chr 22, 50964673: 50964673
55TYMPNM_ 001257989.1(TYMP): c.1173A> C (p.Ala391=)SNVPathogenicGRCh37Chr 22, 50964572: 50964572
56TYMPNM_ 001257989.1(TYMP): c.1173A> G (p.Ala391=)SNVPathogenicGRCh38Chr 22, 50526143: 50526143
57TYMPNM_ 001953.4(TYMP): c.1300+1G> ASNVPathogenicGRCh38Chr 22, 50526000: 50526000
58TYMPNM_ 001953.4(TYMP): c.1300+2T> ASNVPathogenicGRCh37Chr 22, 50964428: 50964428
59TYMPNM_ 001953.4(TYMP): c.1301-1G> ASNVPathogenicrs773785934GRCh37Chr 22, 50964348: 50964348
60TYMPNM_ 001257988.1(TYMP): c.99dup (p.Lys34Glnfs)duplicationPathogenicGRCh37Chr 22, 50968040: 50968040
61TYMPNM_ 001257989.1(TYMP): c.994_ 1011dup (p.Gly337_ Ser338insAlaAlaLeuAspAspGly)duplicationPathogenicGRCh38Chr 22, 50526394: 50526411
62TYMPNM_ 001257989.1(TYMP): c.1226dupT (p.Gly410Argfs)duplicationPathogenicGRCh38Chr 22, 50526090: 50526090
63TYMPNM_ 001257988.1(TYMP): c.1320dupG (p.His441Alafs)duplicationPathogenicGRCh37Chr 22, 50964328: 50964328
64TYMPNM_ 001257989.1(TYMP): c.1366dupC (p.Gln456Profs)duplicationPathogenicGRCh38Chr 22, 50525868: 50525868
65TYMPNM_ 001257988.1(TYMP): c.1431dup (p.Leu478Serfs)duplicationPathogenicGRCh38Chr 22, 50525788: 50525788
66TYMPc.52_ 53delCTundetermined variantPathogenic
67TYMPNM_ 001257988.1(TYMP): c.263_ 264delCC (p.Thr88Ilefs)deletionPathogenicGRCh37Chr 22, 50967718: 50967719
68TYMPNM_ 001257988.1(TYMP): c.720delC (p.Val241Serfs)deletionPathogenicGRCh38Chr 22, 50527210: 50527210
69TYMPNM_ 001257988.1(TYMP): c.784delC (p.Leu262Terfs)deletionPathogenicGRCh37Chr 22, 50965149: 50965149
70TYMPNM_ 001257989.1(TYMP): c.1088delG (p.Gly363Glufs)deletionPathogenicrs1060499535GRCh38Chr 22, 50526317: 50526317
71TYMPNM_ 001257988.1(TYMP): c.1311delG (p.Trp437Cysfs)deletionPathogenicGRCh38Chr 22, 50525908: 50525908
72TYMPNM_ 001257988.1(TYMP): c.1327_ 1346del20 (p.Asp443Profs)deletionPathogenicGRCh37Chr 22, 50964302: 50964321
73TYMPNM_ 001257989.1(TYMP): c.1410_ 1415delGCCATT (p.Pro471_ Phe472del)deletionPathogenicGRCh38Chr 22, 50525819: 50525824
74TYMPNM_ 001257989.1(TYMP): c.1010_ 1019delGCTCGGCCCTinsAA (p.Gly337Glufs)indelPathogenicGRCh37Chr 22, 50964815: 50964824
75MT-TKm.8313G> ASNVPathogenicrs118192101GRCh37Chr MT, 8313: 8313

Expression for genes affiliated with Mitochondrial Dna Depletion Syndrome 1

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

Pathways for genes affiliated with Mitochondrial Dna Depletion Syndrome 1

About this section

GO Terms for genes affiliated with Mitochondrial Dna Depletion Syndrome 1

About this section

Sources for Mitochondrial Dna Depletion Syndrome 1

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet