MCID: MTC061
MIFTS: 31

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 50 11 25 12
Polyneuropathy Ophthalmoplegia Leukoencephalopathy and Intestinal Pseudoobstruction 68
Mitochondrial Neurogastrointestinal Encephalopathy Syndrome Tymp-Related 68
Mitochondrial Neurogastrointestinal Encephalopathy Syndrome 66
Mitochondrial Neurogastrointestinal Encephalomyopathy 68
 
Mitochondrial Dna Depletion Syndrome 1, Mngie Type 68
Myoneurogastrointestinal Encephalomyopathy 68
Polip Syndrome 68
Mtdps1 68

Characteristics:

HPO:

62
mitochondrial dna depletion syndrome 1:
Inheritance: autosomal recessive inheritance
Onset and clinical course: progressive
Mortality/Aging: death in early adulthood


Classifications:



External Ids:

OMIM50 603041
Disease Ontology11 DOID:0080119
MedGen35 C0872218
MeSH37 D017237

Summaries for Mitochondrial Dna Depletion Syndrome 1

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OMIM:50 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:68 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 40)
idRelated DiseaseScoreTop Affiliating Genes
1mitochondrial neurogastrointestinal encephalomyopathy12.5
2encephalomyopathy11.1
3hypogonadism10.3
4peritonitis10.3
5anorexia nervosa10.1
6trigeminal neuralgia10.1
7endocarditis10.1
8esophagitis10.1
9cerebritis10.1
10intestinal pseudo-obstruction10.1
11polyradiculoneuropathy10.1
12chronic inflammatory demyelinating polyradiculoneuropathy10.1
13diverticulitis10.1
14mitochondrial disorders10.1
15brainstem auditory evoked responses10.1
16multiple epiphyseal dysplasia, autosomal dominant9.9POLG, TYMP
17charcot-marie-tooth disease type 2t9.8POLG, TYMP
18mitochondrial dna depletion syndrome 69.8
19mitochondrial dna depletion syndrome 39.8
20mitochondrial dna depletion syndrome 99.8
21mitochondrial dna depletion syndrome 129.8
22mitochondrial dna depletion syndrome 139.8
23mitochondrial dna depletion syndrome 8a9.8
24mitochondrial dna depletion syndrome 79.8
25mitochondrial dna depletion syndrome 59.8
26mitochondrial dna depletion syndrome 4b9.8
27mitochondrial dna depletion syndrome 4a9.8
28mitochondrial dna depletion syndrome 29.8
29mitochondrial dna depletion syndrome 119.8
30mitochondrial recessive ataxia syndrome9.7POLG, TYMP
31leigh syndrome9.5MT-TK, POLG
32intestinal volvulus9.5MT-TK, TYMP
33porencephaly9.4POLG, TYMP
34lymphoepithelioma-like carcinoma9.4MT-TK, POLG
35megalencephalic leukoencephalopathy with subcortical cysts9.2MT-TK, POLG, TYMP
36mucopolysaccharidosis9.2MT-TK, POLG, TYMP
37ulceration of vulva9.1MT-TK, POLG, TYMP
38myoclonic epilepsy associated with ragged-red fibers9.1MT-TK, POLG, TYMP
39mental retardation with spastic paraplegia9.1MT-TK, POLG, TYMP
40mitochondrial neurogastrointestinal encephalopathy disease9.1MT-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 24)
id Description Frequency HPO Source Accession
1 sensorineural hearing impairment HP:0000407
2 ptosis HP:0000508
3 progressive external ophthalmoplegia HP:0000590
4 areflexia HP:0001284
5 vomiting HP:0002013
6 constipation HP:0002019
7 malabsorption HP:0002024
8 abdominal pain HP:0002027
9 intermittent diarrhea HP:0002254
10 leukoencephalopathy HP:0002352
11 distal muscle weakness HP:0002460
12 gastroparesis HP:0002578
13 gastrointestinal dysmotility HP:0002579
14 distal sensory impairment HP:0002936
15 lactic acidosis HP:0003128
16 ragged-red muscle fibers HP:0003200
17 subsarcolemmal accumulations of abnormally shaped mitochondria HP:0003548
18 decreased activity of cytochrome c oxidase in muscle tissue HP:0003688
19 multiple mitochondrial dna deletions HP:0003689
20 distal amyotrophy HP:0003693
21 mitochondrial myopathy HP:0003737
22 cachexia HP:0004326
23 malnutrition HP:0004395
24 hypointensity of cerebral white matter on mri 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

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
CysteaminePhase 2, Phase 32660-23-16058
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
╬▓-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
5Identification of Large-Scale Mutations of POLG Gene by QMPSF in Patients With Mitochondrial DNA Instability.RecruitingNCT00831948
6Tissue 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

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Genetic tests related to Mitochondrial Dna Depletion Syndrome 1:

id Genetic test Affiliating Genes
1 Mitochondrial Dna Depletion Syndrome 1 (mngie Type)25

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:

68
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 92)
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
3TYMPNM_001113755.2(TYMP): c.866A> C (p.Glu289Ala)single nucleotide variantPathogenicrs121913036GRCh37Chr 22, 50965067: 50965067
4TYMPNM_001257988.1(TYMP): c.418_516delsingle nucleotide variantPathogenicrs797044454GRCh38Chr 22, 50528510: 50528510
5TYMPNM_001113755.2(TYMP): c.433G> A (p.Gly145Arg)single nucleotide variantPathogenicrs121913037GRCh37Chr 22, 50967024: 50967024
6TYMPNM_001257988.1(TYMP): c.665A> G (p.Lys222Arg)single nucleotide variantPathogenicrs149977726GRCh37Chr 22, 50965694: 50965694
7NM_001257988.1(TYMP): c.1410dupC (p.Ser471Leufs)duplicationPathogenicrs786205097GRCh37Chr 22, 50964238: 50964238
8NM_001953.4(TYMP): c.1160_1300delsingle nucleotide variantPathogenicrs797044455GRCh37Chr 22, 50964571: 50964571
9NM_001257988.1(TYMP): c.1193_1198delCGCTGG (p.Ala398_Leu399del)deletionPathogenicrs786205098GRCh37Chr 22, 50964532: 50964537
10TYMPNM_001113755.2(TYMP): c.457G> A (p.Gly153Ser)single nucleotide variantPathogenicrs121913038GRCh37Chr 22, 50967000: 50967000
11TYMPNM_001113755.2(TYMP): c.131G> A (p.Arg44Gln)single nucleotide variantPathogenicrs28931613GRCh37Chr 22, 50968008: 50968008
12TYMPNM_001953.4(TYMP): c.215_417delsingle nucleotide variantPathogenicrs767245071GRCh37Chr 22, 50967768: 50967768
13TYMPNM_001953.4(TYMP): c.622G> A (p.Val208Met)single nucleotide variantPathogenicrs121913039GRCh37Chr 22, 50966041: 50966041
14TYMPNM_001113755.2(TYMP): c.931G> C (p.Gly311Arg)single nucleotide variantPathogenicrs121913040GRCh37Chr 22, 50964903: 50964903
15TYMPNM_001113755.2(TYMP): c.605G> C (p.Arg202Thr)single nucleotide variantPathogenicrs121913041GRCh37Chr 22, 50966058: 50966058
16TYMPNM_001113755.2(TYMP): c.854T> C (p.Leu285Pro)single nucleotide variantPathogenicrs121913042GRCh37Chr 22, 50965079: 50965079
17TYMPc.112G> Tundetermined variantPathogenic
18TYMPc.128A> Cundetermined variantPathogenic
19TYMPc.131G> Aundetermined variantPathogenic
20TYMPc.146T> Gundetermined variantPathogenic
21TYMPc.162C> Gundetermined variantPathogenic
22TYMPc.228G> Aundetermined variantPathogenic
23TYMPc.261G> Cundetermined variantPathogenic
24TYMPc.261G> Tundetermined variantPathogenic
25TYMPc.275C> Aundetermined variantPathogenic
26TYMPc.328C> Tundetermined variantPathogenic
27TYMPc.340G> Aundetermined variantPathogenic
28TYMPc.398T> Cundetermined variantPathogenic
29TYMPc.401C> Aundetermined variantPathogenic
30TYMPc.433G> Aundetermined variantPathogenic
31TYMPc.457G> Aundetermined variantPathogenic
32TYMPc.467A> Gundetermined variantPathogenic
33TYMPc.478T> Cundetermined variantPathogenic
34TYMPc.518T> Gundetermined variantPathogenic
35TYMPc.530T> Cundetermined variantPathogenic
36TYMPc.605G> Aundetermined variantPathogenic
37TYMPc.605G> Cundetermined variantPathogenic
38TYMPc.622G> Aundetermined variantPathogenic
39TYMPc.623T> Gundetermined variantPathogenic
40TYMPc.665A> Gundetermined variantPathogenic
41TYMPc.707T> Cundetermined variantPathogenic
42TYMPc.715G> Aundetermined variantPathogenic
43TYMPc.760A> Cundetermined variantPathogenic
44TYMPc.847C> Gundetermined variantPathogenic
45TYMPc.854T> Cundetermined variantPathogenic
46TYMPc.856G> Aundetermined variantPathogenic
47TYMPc.865G> Aundetermined variantPathogenic
48TYMPc.866A> Cundetermined variantPathogenic
49TYMPc.893G> Aundetermined variantPathogenic
50TYMPc.931G> Cundetermined variantPathogenic
51TYMPc.931G> Aundetermined variantPathogenic
52TYMPc.931G> Tundetermined variantPathogenic
53TYMPc.938T> Cundetermined variantPathogenic
54TYMPc.1067T> Cundetermined variantPathogenic
55TYMPc.1112T> Cundetermined variantPathogenic
56TYMPc.1159G> Aundetermined variantPathogenic
57TYMPc.1160G> Aundetermined variantPathogenic
58TYMPc.1282G> Aundetermined variantPathogenic
59TYMPc.1311G> Aundetermined variantPathogenic
60TYMPc.1360G> Cundetermined variantPathogenic
61TYMPc.1412C> Aundetermined variantPathogenic
62TYMPc.1-11G> Cundetermined variantPathogenic
63TYMPc.215-1G> Cundetermined variantPathogenic
64TYMPc.516+2T> Cundetermined variantPathogenic
65TYMPc.928+1G> Aundetermined variantPathogenic
66TYMPc.929-3G> Aundetermined variantPathogenic
67TYMPc.1160-1G> Aundetermined variantPathogenic
68TYMPc.1159+2T> Aundetermined variantPathogenic
69TYMPc.1160-1G> Cundetermined variantPathogenic
70TYMPc.1160-2A> Cundetermined variantPathogenic
71TYMPc.1160-2A> Gundetermined variantPathogenic
72TYMPc.1300+1G> Aundetermined variantPathogenic
73TYMPc.1300+2T> Aundetermined variantPathogenic
74TYMPc.1301-1G> Aundetermined variantPathogenic
75TYMPc.99insCundetermined variantPathogenic
76TYMPc.994_1011dupundetermined variantPathogenic
77TYMPc.1211insTundetermined variantPathogenic
78TYMPc.1319insGundetermined variantPathogenic
79TYMPc.1351insCundetermined variantPathogenic
80TYMPc.1431insTundetermined variantPathogenic
81TYMPc.52_53delCTundetermined variantPathogenic
82TYMPc.263_264delCCundetermined variantPathogenic
83TYMPc.720delCundetermined variantPathogenic
84TYMPc.784delCundetermined variantPathogenic
85TYMPc.929-3_929-6delCCGCundetermined variantPathogenic
86TYMPc.1088delGundetermined variantPathogenic
87TYMPc.1193_1198delCGCTGGundetermined variantPathogenic
88TYMPc.1311delGundetermined variantPathogenic
89TYMPc.1327_1346delGACGCCCCCGCGCTCAGCGGundetermined variantPathogenic
90TYMPc.1394_1400delGCCATTundetermined variantPathogenic
91TYMPc.1010_1019del_insAAundetermined variantPathogenic
92MT-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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet