MCID: MTC061
MIFTS: 28

Mitochondrial Dna Depletion Syndrome 1 malady

Genetic diseases (common), Gastrointestinal diseases, Neuronal diseases categories

Aliases & Classifications for Mitochondrial Dna Depletion Syndrome 1

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Aliases & Descriptions for Mitochondrial Dna Depletion Syndrome 1:

Name: Mitochondrial Dna Depletion Syndrome 1 49 11
Polyneuropathy Ophthalmoplegia Leukoencephalopathy and Intestinal Pseudoobstruction 67
Mitochondrial Neurogastrointestinal Encephalopathy Syndrome Tymp-Related 67
Mitochondrial Neurogastrointestinal Encephalomyopathy 67
Mitochondrial Dna Depletion Syndrome 1, Mngie Type 67
 
Myoneurogastrointestinal Encephalomyopathy 67
Thymidine Phosphorylase Deficiency 65
Polip Syndrome 67
Mtdps1 67


Classifications:



External Ids:

OMIM49 603041
MedGen34 C0872218
MeSH36 D017237

Summaries for Mitochondrial Dna Depletion Syndrome 1

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OMIM:49 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 autosomal recessive inheritance, sensorineural hearing impairment and ptosis. An important gene associated with Mitochondrial Dna Depletion Syndrome 1 is TYMP (Thymidine Phosphorylase).

UniProtKB/Swiss-Prot:67 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

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

(show all 42)
idRelated DiseaseScoreTop Affiliating Genes
1mitochondrial neurogastrointestinal encephalomyopathy11.3
2encephalomyopathy11.3
3hypogonadism10.5
4anorexia nervosa10.4
5trigeminal neuralgia10.4
6cerebritis10.4
7chronic inflammatory demyelinating polyradiculoneuropathy10.4
8diverticulitis10.4
9endocarditis10.4
10esophagitis10.4
11intestinal pseudo-obstruction10.4
12ophthalmoplegia10.4
13peritonitis10.4
14polyradiculoneuropathy10.4
15mitochondrial disorders10.4
16brainstem auditory evoked responses10.4
17polyneuropathy10.2
18mitochondrial dna depletion syndrome 610.0
19mitochondrial dna depletion syndrome 310.0
20mitochondrial dna depletion syndrome 910.0
21mitochondrial dna depletion syndrome 1210.0
22mitochondrial dna depletion syndrome 1310.0
23mitochondrial dna depletion syndrome 8a10.0
24mitochondrial dna depletion syndrome 710.0
25mitochondrial dna depletion syndrome 510.0
26mitochondrial dna depletion syndrome 4b10.0
27mitochondrial dna depletion syndrome 4a10.0
28mitochondrial dna depletion syndrome 210.0
29mitochondrial dna depletion syndrome 1110.0
30multiminicore disease10.0POLG, TYMP
31mitochondrial recessive ataxia syndrome9.9POLG, TYMP
32opiate dependence9.9POLG, TYMP
33pulmonary blastoma9.9POLG, TYMP
34female breast upper-outer quadrant cancer9.8MT-TK, TYMP
35leigh syndrome9.8MT-TK, POLG
36pinta disease9.8MT-TK, POLG
37peripheral osteosarcoma9.8POLG, TYMP
38congenital disorder of glycosylation, type ig9.7MT-TK, POLG, TYMP
39vitamin k antagonists toxicity or dose selection9.7MT-TK, POLG, TYMP
40ohdo syndrome9.7MT-TK, POLG, TYMP
41chronic pulmonary heart disease9.6MT-TK, POLG, TYMP
42mitochondrial membrane protein-associated neurodegeneration9.6MT-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 for Mitochondrial Dna Depletion Syndrome 1

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Symptoms by clinical synopsis from OMIM:

603041

Clinical features from OMIM:

603041

HPO human phenotypes related to Mitochondrial Dna Depletion Syndrome 1:

(show all 27)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 sensorineural hearing impairment HP:0000407
3 ptosis HP:0000508
4 progressive external ophthalmoplegia HP:0000590
5 areflexia HP:0001284
6 vomiting HP:0002013
7 constipation HP:0002019
8 malabsorption HP:0002024
9 abdominal pain HP:0002027
10 intermittent diarrhea HP:0002254
11 leukoencephalopathy HP:0002352
12 distal muscle weakness HP:0002460
13 gastroparesis HP:0002578
14 gastrointestinal dysmotility HP:0002579
15 distal sensory impairment HP:0002936
16 lactic acidosis HP:0003128
17 ragged-red muscle fibers HP:0003200
18 subsarcolemmal accumulations of abnormally shaped mitochondria HP:0003548
19 progressive HP:0003676
20 decreased activity of cytochrome c oxidase in muscle tissue HP:0003688
21 multiple mitochondrial dna deletions HP:0003689
22 distal amyotrophy HP:0003693
23 mitochondrial myopathy HP:0003737
24 cachexia HP:0004326
25 malnutrition HP:0004395
26 hypointensity of cerebral white matter on mri HP:0007103
27 death in early adulthood HP:0100613

Drugs & Therapeutics for Mitochondrial Dna Depletion Syndrome 1

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Cysteamineapproved, investigationalPhase 2, Phase 32260-23-16058
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]
Cystagon
Cystaran
Cystavision
Cysteamide
Cysteamin
Cysteamine
Cysteamine (USAN)
Cysteamine Bitartrate
Cysteamine Hydrochloride
Cysteamine [USAN:BAN]
Cysteamine bitartate
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
nchembio.315-comp1
nchembio.316-comp1
╬▓-MEA
╬▓-aminoethylthiol

Interventional clinical trials:

idNameStatusNCT IDPhase
1Open-Label, Dose-Escalating Study to Assess Safety, Tolerability, Efficacy, PK and PD of RP103 in Children With Inherited Mitochondrial DiseaseEnrolling by invitationNCT02023866Phase 2, Phase 3
2A Long-Term Extension Study of RP103-MITO-001 to Assess RP103 in Children With Inherited Mitochondrial DiseaseEnrolling by invitationNCT02473445Phase 2
3MNGIE Allogeneic Hematopoietic Stem Cell Transplant Safety StudyRecruitingNCT02427178Phase 1
4The Natural History Study of Mitochondrial NeuroGastroIntestinal Encephalopathy (MNGIE)RecruitingNCT01694953
5Tissue Sample Study for Mitochondrial DisordersRecruitingNCT01803906
6Identification of Large-Scale Mutations of POLG Gene by QMPSF in Patients With Mitochondrial DNA Instability.RecruitingNCT00831948

Search NIH Clinical Center for Mitochondrial Dna Depletion Syndrome 1

Genetic Tests for Mitochondrial Dna Depletion Syndrome 1

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Anatomical Context for Mitochondrial Dna Depletion Syndrome 1

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Animal Models for Mitochondrial Dna Depletion Syndrome 1 or affiliated genes

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Publications for Mitochondrial Dna Depletion Syndrome 1

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Variations for Mitochondrial Dna Depletion Syndrome 1

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

67
id Symbol AA change Variation ID SNP ID
1TYMPp.Gly145ArgVAR_007643
2TYMPp.Gly153SerVAR_007644
3TYMPp.Lys222ArgVAR_007645
4TYMPp.Glu289AlaVAR_007646
5TYMPp.Arg44GlnVAR_016777

Clinvar genetic disease variations for Mitochondrial Dna Depletion Syndrome 1:

5
id Gene Variation Type Significance SNP ID Assembly Location
1POLGNM_002693.2(POLG): c.752C> T (p.Thr251Ile)single nucleotide variantPathogenicrs113994094GRCh37Chr 15, 89873415: 89873415
2POLGNM_002693.2(POLG): c.1760C> T (p.Pro587Leu)single nucleotide variantPathogenicrs113994096GRCh37Chr 15, 89868870: 89868870
3MT-TKm.8313G> Asingle nucleotide variantPathogenicrs118192101GRCh37Chr MT, 8313: 8313

Expression for genes affiliated with Mitochondrial Dna Depletion Syndrome 1

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

Pathways for genes affiliated with Mitochondrial Dna Depletion Syndrome 1

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GO Terms for genes affiliated with Mitochondrial Dna Depletion Syndrome 1

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

idNameGO IDScoreTop Affiliating Genes
1DNA replicationGO:00062609.3POLG, TYMP

Sources for Mitochondrial Dna Depletion Syndrome 1

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet