MCID: MTC061
MIFTS: 32

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 51 11 26 12
Polyneuropathy Ophthalmoplegia Leukoencephalopathy and Intestinal Pseudoobstruction 69
Mitochondrial Neurogastrointestinal Encephalopathy Syndrome Tymp-Related 69
Mitochondrial Neurogastrointestinal Encephalopathy Syndrome 67
Mitochondrial Neurogastrointestinal Encephalomyopathy 69
 
Mitochondrial Dna Depletion Syndrome 1, Mngie Type 69
Myoneurogastrointestinal Encephalomyopathy 69
Polip Syndrome 69
Mtdps1 69

Characteristics:

HPO:

63
mitochondrial dna depletion syndrome 1:
Inheritance: autosomal recessive inheritance
Onset and clinical course: progressive
Mortality/Aging: death in early adulthood

Classifications:



External Ids:

OMIM51 603041
Disease Ontology11 DOID:0080119
MedGen36 C0872218
MeSH38 D017237

Summaries for Mitochondrial Dna Depletion Syndrome 1

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OMIM:51 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 encephalopathy disease and mitochondrial neurogastrointestinal encephalomyopathy, and has symptoms including sensorineural hearing impairment, ptosis and progressive external ophthalmoplegia. An important gene associated with Mitochondrial Dna Depletion Syndrome 1 is TYMP (Thymidine Phosphorylase).

UniProtKB/Swiss-Prot:69 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 41)
idRelated DiseaseScoreTop Affiliating Genes
1mitochondrial neurogastrointestinal encephalopathy disease30.1MT-TK, POLG, TYMP
2mitochondrial neurogastrointestinal encephalomyopathy12.4
3encephalomyopathy10.9
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
19trigeminal neuralgia10.0
20endocarditis10.0
21esophagitis10.0
22cerebritis10.0
23intestinal pseudo-obstruction10.0
24polyradiculoneuropathy10.0
25chronic inflammatory demyelinating polyradiculoneuropathy10.0
26diverticulitis10.0
27mitochondrial disorders10.0
28brainstem auditory evoked responses10.0
29multiple epiphyseal dysplasia, autosomal dominant9.9POLG, TYMP
30polyneuropathy9.8
31charcot-marie-tooth disease type 2t9.8POLG, TYMP
32mitochondrial recessive ataxia syndrome9.7POLG, TYMP
33leigh syndrome9.5MT-TK, POLG
34intestinal volvulus9.5MT-TK, TYMP
35porencephaly9.5POLG, TYMP
36lymphoepithelioma-like carcinoma9.5MT-TK, POLG
37megalencephalic leukoencephalopathy with subcortical cysts9.2MT-TK, POLG, TYMP
38mucopolysaccharidosis9.2MT-TK, POLG, TYMP
39ulceration of vulva9.2MT-TK, POLG, TYMP
40myoclonic epilepsy associated with ragged-red fibers9.2MT-TK, POLG, TYMP
41mental retardation with spastic paraplegia9.2MT-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

Human phenotypes related to Mitochondrial Dna Depletion Syndrome 1:

 63 (show all 24)
id Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment63 HP:0000407
2 ptosis63 HP:0000508
3 progressive external ophthalmoplegia63 HP:0000590
4 areflexia63 HP:0001284
5 vomiting63 HP:0002013
6 constipation63 HP:0002019
7 malabsorption63 HP:0002024
8 abdominal pain63 HP:0002027
9 intermittent diarrhea63 HP:0002254
10 leukoencephalopathy63 HP:0002352
11 distal muscle weakness63 HP:0002460
12 gastroparesis63 HP:0002578
13 gastrointestinal dysmotility63 HP:0002579
14 distal sensory impairment63 HP:0002936
15 lactic acidosis63 HP:0003128
16 ragged-red muscle fibers63 HP:0003200
17 subsarcolemmal accumulations of abnormally shaped mitochondria63 HP:0003548
18 decreased activity of cytochrome c oxidase in muscle tissue63 HP:0003688
19 multiple mitochondrial dna deletions63 HP:0003689
20 distal amyotrophy63 HP:0003693
21 mitochondrial myopathy63 HP:0003737
22 cachexia63 HP:0004326
23 malnutrition63 HP:0004395
24 hypointensity of cerebral white matter on mri63 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
Cysteamineapproved, investigationalPhase 2, Phase 32760-23-16058
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
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
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)26

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:

69
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
1TYMPc.929-3_929-6delCCGCundetermined variantPathogenicChr na, -1: -1
2POLGNM_002693.2(POLG): c.752C> T (p.Thr251Ile)SNVPathogenicrs113994094GRCh37Chr 15, 89873415: 89873415
3POLGNM_002693.2(POLG): c.1760C> T (p.Pro587Leu)SNVPathogenicrs113994096GRCh37Chr 15, 89868870: 89868870
4TYMPNM_001113755.2(TYMP): c.866A> C (p.Glu289Ala)SNVPathogenicrs121913036GRCh37Chr 22, 50965067: 50965067
5TYMPNM_001257988.1(TYMP): c.418_516delSNVPathogenicrs797044454GRCh38Chr 22, 50528510: 50528510
6TYMPNM_001113755.2(TYMP): c.433G> A (p.Gly145Arg)SNVPathogenicrs121913037GRCh37Chr 22, 50967024: 50967024
7TYMPNM_001257988.1(TYMP): c.665A> G (p.Lys222Arg)SNVPathogenicrs149977726GRCh37Chr 22, 50965694: 50965694
8TYMPNM_001257988.1(TYMP): c.1410dupC (p.Ser471Leufs)duplicationPathogenicrs786205097GRCh37Chr 22, 50964238: 50964238
9TYMPNM_001953.4(TYMP): c.1160_1300delSNVPathogenicrs797044455GRCh37Chr 22, 50964571: 50964571
10TYMPNM_001257988.1(TYMP): c.1193_1198delCGCTGG (p.Ala398_Leu399del)deletionPathogenicrs786205098GRCh37Chr 22, 50964532: 50964537
11TYMPNM_001113755.2(TYMP): c.457G> A (p.Gly153Ser)SNVPathogenicrs121913038GRCh37Chr 22, 50967000: 50967000
12TYMPNM_001113755.2(TYMP): c.131G> A (p.Arg44Gln)SNVPathogenicrs28931613GRCh37Chr 22, 50968008: 50968008
13TYMPNM_001953.4(TYMP): c.215_417delSNVPathogenicrs767245071GRCh37Chr 22, 50967768: 50967768
14TYMPNM_001953.4(TYMP): c.622G> A (p.Val208Met)SNVLikely pathogenic, Pathogenicrs121913039GRCh37Chr 22, 50966041: 50966041
15TYMPNM_001113755.2(TYMP): c.931G> C (p.Gly311Arg)SNVPathogenicrs121913040GRCh37Chr 22, 50964903: 50964903
16TYMPNM_001113755.2(TYMP): c.605G> C (p.Arg202Thr)SNVPathogenicrs121913041GRCh37Chr 22, 50966058: 50966058
17TYMPNM_001113755.2(TYMP): c.854T> C (p.Leu285Pro)SNVPathogenicrs121913042GRCh37Chr 22, 50965079: 50965079
18TYMPc.112G> Tundetermined variantPathogenicChr na, -1: -1
19TYMPc.128A> Cundetermined variantPathogenicChr na, -1: -1
20TYMPc.131G> Aundetermined variantPathogenicChr na, -1: -1
21TYMPc.146T> Gundetermined variantPathogenicChr na, -1: -1
22TYMPc.162C> Gundetermined variantPathogenicChr na, -1: -1
23TYMPc.228G> Aundetermined variantPathogenicChr na, -1: -1
24TYMPc.261G> Cundetermined variantPathogenicChr na, -1: -1
25TYMPc.261G> Tundetermined variantPathogenicChr na, -1: -1
26TYMPc.275C> Aundetermined variantPathogenicChr na, -1: -1
27TYMPc.328C> Tundetermined variantPathogenicChr na, -1: -1
28TYMPc.340G> Aundetermined variantPathogenicChr na, -1: -1
29TYMPc.398T> Cundetermined variantPathogenicChr na, -1: -1
30TYMPc.401C> Aundetermined variantPathogenicChr na, -1: -1
31TYMPc.433G> Aundetermined variantPathogenicChr na, -1: -1
32TYMPc.457G> Aundetermined variantPathogenicChr na, -1: -1
33TYMPc.467A> Gundetermined variantPathogenicChr na, -1: -1
34TYMPc.478T> Cundetermined variantPathogenicChr na, -1: -1
35TYMPc.518T> Gundetermined variantPathogenicChr na, -1: -1
36TYMPc.530T> Cundetermined variantPathogenicChr na, -1: -1
37TYMPc.605G> Aundetermined variantPathogenicChr na, -1: -1
38TYMPc.605G> Cundetermined variantPathogenicChr na, -1: -1
39TYMPc.622G> Aundetermined variantPathogenicChr na, -1: -1
40TYMPc.623T> Gundetermined variantPathogenicChr na, -1: -1
41TYMPc.665A> Gundetermined variantPathogenicChr na, -1: -1
42TYMPc.707T> Cundetermined variantPathogenicChr na, -1: -1
43TYMPc.715G> Aundetermined variantPathogenicChr na, -1: -1
44TYMPc.760A> Cundetermined variantPathogenicChr na, -1: -1
45TYMPc.847C> Gundetermined variantPathogenicChr na, -1: -1
46TYMPc.854T> Cundetermined variantPathogenicChr na, -1: -1
47TYMPc.856G> Aundetermined variantPathogenicChr na, -1: -1
48TYMPc.865G> Aundetermined variantPathogenicChr na, -1: -1
49TYMPc.866A> Cundetermined variantPathogenicChr na, -1: -1
50TYMPc.893G> Aundetermined variantPathogenicChr na, -1: -1
51TYMPc.931G> Cundetermined variantPathogenicChr na, -1: -1
52TYMPc.931G> Aundetermined variantPathogenicChr na, -1: -1
53TYMPc.931G> Tundetermined variantPathogenicChr na, -1: -1
54TYMPc.938T> Cundetermined variantPathogenicChr na, -1: -1
55TYMPc.1067T> Cundetermined variantPathogenicChr na, -1: -1
56TYMPc.1112T> Cundetermined variantPathogenicChr na, -1: -1
57TYMPc.1159G> Aundetermined variantPathogenicChr na, -1: -1
58TYMPc.1160G> Aundetermined variantPathogenicChr na, -1: -1
59TYMPc.1282G> Aundetermined variantPathogenicChr na, -1: -1
60TYMPc.1311G> Aundetermined variantPathogenicChr na, -1: -1
61TYMPc.1360G> Cundetermined variantPathogenicChr na, -1: -1
62TYMPc.1412C> Aundetermined variantPathogenicChr na, -1: -1
63TYMPc.1-11G> Cundetermined variantPathogenicChr na, -1: -1
64TYMPc.215-1G> Cundetermined variantPathogenicChr na, -1: -1
65TYMPc.516+2T> Cundetermined variantPathogenicChr na, -1: -1
66TYMPc.928+1G> Aundetermined variantPathogenicChr na, -1: -1
67TYMPc.929-3G> Aundetermined variantPathogenicChr na, -1: -1
68TYMPc.1160-1G> Aundetermined variantPathogenicChr na, -1: -1
69TYMPc.1159+2T> Aundetermined variantPathogenicChr na, -1: -1
70TYMPc.1160-1G> Cundetermined variantPathogenicChr na, -1: -1
71TYMPc.1160-2A> Cundetermined variantPathogenicChr na, -1: -1
72TYMPc.1160-2A> Gundetermined variantPathogenicChr na, -1: -1
73TYMPc.1300+1G> Aundetermined variantPathogenicChr na, -1: -1
74TYMPc.1300+2T> Aundetermined variantPathogenicChr na, -1: -1
75TYMPc.1301-1G> Aundetermined variantPathogenicChr na, -1: -1
76TYMPc.99insCundetermined variantPathogenicChr na, -1: -1
77TYMPc.994_1011dupundetermined variantPathogenicChr na, -1: -1
78TYMPc.1211insTundetermined variantPathogenicChr na, -1: -1
79TYMPc.1319insGundetermined variantPathogenicChr na, -1: -1
80TYMPc.1351insCundetermined variantPathogenicChr na, -1: -1
81TYMPc.1431insTundetermined variantPathogenicChr na, -1: -1
82TYMPc.52_53delCTundetermined variantPathogenicChr na, -1: -1
83TYMPc.263_264delCCundetermined variantPathogenicChr na, -1: -1
84TYMPc.720delCundetermined variantPathogenicChr na, -1: -1
85TYMPc.784delCundetermined variantPathogenicChr na, -1: -1
86TYMPc.1088delGundetermined variantPathogenicChr na, -1: -1
87TYMPc.1193_1198delCGCTGGundetermined variantPathogenicChr na, -1: -1
88TYMPc.1311delGundetermined variantPathogenicChr na, -1: -1
89TYMPc.1327_1346delGACGCCCCCGCGCTCAGCGGundetermined variantPathogenicChr na, -1: -1
90TYMPc.1394_1400delGCCATTundetermined variantPathogenicChr na, -1: -1
91TYMPc.1010_1019del_insAAundetermined variantPathogenicChr na, -1: -1
92MT-TKm.8313G> ASNVPathogenicrs118192101GRCh37Chr 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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet