MCID: MTC061
MIFTS: 27

Mitochondrial Dna Depletion Syndrome 1 malady

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

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 10 11
Polyneuropathy Ophthalmoplegia Leukoencephalopathy and Intestinal Pseudoobstruction 67
Mitochondrial Neurogastrointestinal Encephalopathy Syndrome Tymp-Related 67
Mitochondrial Neurogastrointestinal Encephalopathy Syndrome 65
Mitochondrial Neurogastrointestinal Encephalomyopathy 67
 
Mitochondrial Dna Depletion Syndrome 1, Mngie Type 67
Myoneurogastrointestinal Encephalomyopathy 67
Polip Syndrome 67
Mtdps1 67

Characteristics:

HPO:

61
mitochondrial dna depletion syndrome 1:
Mortality/Aging: death in early adulthood
Onset and clinical course: progressive
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 603041
Disease Ontology10 DOID:0080119
MedGen34 C0872218
MeSH36 D017237
UMLS65 C0872218

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 hypointensity of cerebral white matter on mri, malnutrition and cachexia. An important gene associated with Mitochondrial Dna Depletion Syndrome 1 is TYMP (Thymidine Phosphorylase). Affiliated tissues include breast.

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

UMLS symptoms related to Mitochondrial Dna Depletion Syndrome 1:


chronic constipation, intermittent diarrhea, vomiting, abdominal pain

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 32360-23-16058
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
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
╬▓-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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MalaCards organs/tissues related to Mitochondrial Dna Depletion Syndrome 1:

33
Breast

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 (show all 76)
id Gene Variation Type Significance SNP ID Assembly Location
1TYMPc.112G> Tundetermined variantPathogenic
2TYMPc.128A> Cundetermined variantPathogenic
3TYMPc.131G> Aundetermined variantPathogenic
4TYMPc.146T> Gundetermined variantPathogenic
5TYMPc.162C> Gundetermined variantPathogenic
6TYMPc.228G> Aundetermined variantPathogenic
7TYMPc.261G> Cundetermined variantPathogenic
8TYMPc.261G> Tundetermined variantPathogenic
9TYMPc.275C> Aundetermined variantPathogenic
10TYMPc.328C> Tundetermined variantPathogenic
11TYMPc.340G> Aundetermined variantPathogenic
12TYMPc.398T> Cundetermined variantPathogenic
13TYMPc.401C> Aundetermined variantPathogenic
14TYMPc.433G> Aundetermined variantPathogenic
15TYMPc.457G> Aundetermined variantPathogenic
16TYMPc.467A> Gundetermined variantPathogenic
17TYMPc.478T> Cundetermined variantPathogenic
18TYMPc.518T> Gundetermined variantPathogenic
19TYMPc.530T> Cundetermined variantPathogenic
20TYMPc.605G> Aundetermined variantPathogenic
21TYMPc.605G> Cundetermined variantPathogenic
22TYMPc.622G> Aundetermined variantPathogenic
23TYMPc.623T> Gundetermined variantPathogenic
24TYMPc.665A> Gundetermined variantPathogenic
25TYMPc.707T> Cundetermined variantPathogenic
26TYMPc.715G> Aundetermined variantPathogenic
27TYMPc.760A> Cundetermined variantPathogenic
28TYMPc.847C> Gundetermined variantPathogenic
29TYMPc.854T> Cundetermined variantPathogenic
30TYMPc.856G> Aundetermined variantPathogenic
31TYMPc.865G> Aundetermined variantPathogenic
32TYMPc.866A> Cundetermined variantPathogenic
33TYMPc.893G> Aundetermined variantPathogenic
34TYMPc.931G> Cundetermined variantPathogenic
35TYMPc.931G> Aundetermined variantPathogenic
36TYMPc.931G> Tundetermined variantPathogenic
37TYMPc.938T> Cundetermined variantPathogenic
38TYMPc.1067T> Cundetermined variantPathogenic
39TYMPc.1112T> Cundetermined variantPathogenic
40TYMPc.1159G> Aundetermined variantPathogenic
41TYMPc.1160G> Aundetermined variantPathogenic
42TYMPc.1282G> Aundetermined variantPathogenic
43TYMPc.1311G> Aundetermined variantPathogenic
44TYMPc.1360G> Cundetermined variantPathogenic
45TYMPc.1412C> Aundetermined variantPathogenic
46TYMPc.1-11G> Cundetermined variantPathogenic
47TYMPc.215-1G> Cundetermined variantPathogenic
48TYMPc.516+2T> Cundetermined variantPathogenic
49TYMPc.928+1G> Aundetermined variantPathogenic
50TYMPc.929-3G> Aundetermined variantPathogenic
51TYMPc.1160-1G> Aundetermined variantPathogenic
52TYMPc.1159+2T> Aundetermined variantPathogenic
53TYMPc.1160-1G> Cundetermined variantPathogenic
54TYMPc.1160-2A> Cundetermined variantPathogenic
55TYMPc.1160-2A> Gundetermined variantPathogenic
56TYMPc.1300+1G> Aundetermined variantPathogenic
57TYMPc.1300+2T> Aundetermined variantPathogenic
58TYMPc.1301-1G> Aundetermined variantPathogenic
59TYMPc.99insCundetermined variantPathogenic
60TYMPc.994_1011dupundetermined variantPathogenic
61TYMPc.1211insTundetermined variantPathogenic
62TYMPc.1319insGundetermined variantPathogenic
63TYMPc.1351insCundetermined variantPathogenic
64TYMPc.1431insTundetermined variantPathogenic
65TYMPc.52_53delCTundetermined variantPathogenic
66TYMPc.263_264delCCundetermined variantPathogenic
67TYMPc.720delCundetermined variantPathogenic
68TYMPc.784delCundetermined variantPathogenic
69TYMPc.929-3_929-6delCCGCundetermined variantPathogenic
70TYMPc.1088delGundetermined variantPathogenic
71TYMPc.1193_1198delCGCTGGundetermined variantPathogenic
72TYMPc.1311delGundetermined variantPathogenic
73TYMPc.1327_1346delGACGCCCCCGCGCTCAGCGGundetermined variantPathogenic
74TYMPc.1394_1400delGCCATTundetermined variantPathogenic
75TYMPc.1010_1019del_insAAundetermined variantPathogenic
76MT-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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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