MTDPS1
MCID: MTC061
MIFTS: 34

Mitochondrial Dna Depletion Syndrome 1 (MTDPS1) malady

Categories: Genetic diseases, Metabolic diseases, Gastrointestinal diseases, Neuronal diseases

Aliases & Classifications for Mitochondrial Dna Depletion Syndrome 1

Aliases & Descriptions for Mitochondrial Dna Depletion Syndrome 1:

Name: Mitochondrial Dna Depletion Syndrome 1 54 12 29 13
Polyneuropathy Ophthalmoplegia Leukoencephalopathy and Intestinal Pseudoobstruction 66
Mitochondrial Neurogastrointestinal Encephalopathy Syndrome Tymp-Related 66
Mitochondrial Neurogastrointestinal Encephalopathy Syndrome 69
Mitochondrial Neurogastrointestinal Encephalomyopathy 66
Mitochondrial Dna Depletion Syndrome 1, Mngie Type 66
Myoneurogastrointestinal Encephalomyopathy 66
Polip Syndrome 66
Mtdps1 66

Characteristics:

HPO:

32
mitochondrial dna depletion syndrome 1:
Mortality/Aging death in early adulthood
Inheritance autosomal recessive inheritance
Onset and clinical course progressive


Classifications:



External Ids:

OMIM 54 603041
Disease Ontology 12 DOID:0080119
MedGen 40 C0872218
MeSH 42 D017237

Summaries for Mitochondrial Dna Depletion Syndrome 1

OMIM : 54 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 constipation, cachexia and abdominal pain. An important gene associated with Mitochondrial Dna Depletion Syndrome 1 is TYMP (Thymidine Phosphorylase). The drugs Cysteamine and Celecoxib have been mentioned in the context of this disorder.

UniProtKB/Swiss-Prot : 66 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

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

(show all 45)
id Related Disease Score Top Affiliating Genes
1 mitochondrial neurogastrointestinal encephalomyopathy 12.4
2 encephalomyopathy 10.9
3 mitochondrial neurogastrointestinal encephalopathy disease 10.9
4 mitochondrial dna depletion syndrome 5 10.7
5 mitochondrial dna depletion syndrome 4b 10.7
6 mitochondrial dna depletion syndrome 4a 10.7
7 mitochondrial dna depletion syndrome 2 10.7
8 mitochondrial dna depletion syndrome 11 10.7
9 mitochondrial dna depletion syndrome 6 10.7
10 mitochondrial dna depletion syndrome 3 10.7
11 mitochondrial dna depletion syndrome 9 10.7
12 mitochondrial dna depletion syndrome 12 10.7
13 mitochondrial dna depletion syndrome 13 10.7
14 mitochondrial dna depletion syndrome 8a 10.7
15 mitochondrial dna depletion syndrome 7 10.7
16 anorexia nervosa 10.1
17 peritonitis 10.1
18 hypogonadism 10.1
19 nonsyndromic 46,xx testicular disorders of sex development 10.0 POLG TYMP
20 idiopathic dropped head syndrome 10.0 POLG TYMP
21 mitochondrial disorders 10.0
22 brainstem auditory evoked responses 10.0
23 trigeminal neuralgia 10.0
24 endocarditis 10.0
25 esophagitis 10.0
26 cerebritis 10.0
27 intestinal pseudo-obstruction 10.0
28 polyradiculoneuropathy 10.0
29 chronic inflammatory demyelinating polyradiculoneuropathy 10.0
30 diverticulitis 10.0
31 deafness, autosomal dominant 30 10.0 POLG TYMP
32 pontocerebellar hypoplasia 9.9 POLG TYMP
33 pellagra 9.9 MT-TK TYMP
34 nerve fibre bundle defect 9.8 MT-TK POLG
35 bjornstad syndrome 9.8 MT-TK POLG
36 polyneuropathy 9.8
37 mucinous intrahepatic cholangiocarcinoma 9.8 MT-TK POLG
38 mast cell neoplasm 9.7 MT-TK POLG
39 megalencephalic leukoencephalopathy with subcortical cysts 9.7 MT-TK POLG TYMP
40 growth hormone deficiency, isolated partial 9.7 MT-TK POLG TYMP
41 dyscalculia 9.7 MT-TK POLG TYMP
42 chronic lacrimal gland enlargement 9.7 MT-TK POLG TYMP
43 myoclonic epilepsy associated with ragged-red fibers 9.7 MT-TK POLG TYMP
44 mental retardation with spastic paraplegia 9.7 MT-TK POLG TYMP
45 nkx2-1-related disorders 9.7 MT-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

Symptoms by clinical synopsis from OMIM:

603041

Clinical features from OMIM:

603041

Human phenotypes related to Mitochondrial Dna Depletion Syndrome 1:

32 (show all 24)
id Description HPO Frequency HPO Source Accession
1 constipation 32 HP:0002019
2 cachexia 32 HP:0004326
3 abdominal pain 32 HP:0002027
4 vomiting 32 HP:0002013
5 intermittent diarrhea 32 HP:0002254
6 ptosis 32 HP:0000508
7 malabsorption 32 HP:0002024
8 sensorineural hearing impairment 32 HP:0000407
9 gastroparesis 32 HP:0002578
10 lactic acidosis 32 HP:0003128
11 ragged-red muscle fibers 32 HP:0003200
12 mitochondrial myopathy 32 HP:0003737
13 progressive external ophthalmoplegia 32 HP:0000590
14 areflexia 32 HP:0001284
15 distal muscle weakness 32 HP:0002460
16 hypointensity of cerebral white matter on mri 32 HP:0007103
17 distal sensory impairment 32 HP:0002936
18 distal amyotrophy 32 HP:0003693
19 malnutrition 32 HP:0004395
20 gastrointestinal dysmotility 32 HP:0002579
21 leukoencephalopathy 32 HP:0002352
22 subsarcolemmal accumulations of abnormally shaped mitochondria 32 HP:0003548
23 decreased activity of cytochrome c oxidase in muscle tissue 32 HP:0003688
24 multiple mitochondrial dna deletions 32 HP:0003689

UMLS symptoms related to Mitochondrial Dna Depletion Syndrome 1:


abdominal pain, vomiting, intermittent diarrhea, chronic constipation

Drugs & Therapeutics for Mitochondrial Dna Depletion Syndrome 1

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

(show all 23)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cysteamine Approved, Investigational Phase 2 60-23-1 6058
2
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
3
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
4
Busulfan Approved, Investigational Phase 2 55-98-1 2478
5
rituximab Approved Phase 2 174722-31-7 10201696
6
alemtuzumab Approved, Investigational Phase 2 216503-57-0
7
Thiotepa Approved Phase 2 52-24-4 5453
8
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
9
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
10 Alkylating Agents Phase 2
11 N-monoacetylcystine Phase 2
12 Thioctic Acid Phase 2
13 Tocopherols Phase 2
14 Tocotrienols Phase 2
15 Vitamins Phase 2
16 Immunosuppressive Agents Phase 2
17 Antilymphocyte Serum Phase 2
18 Antimetabolites Phase 2
19 Antimetabolites, Antineoplastic Phase 2
20 Antineoplastic Agents, Alkylating Phase 2
21 Tocopherol Nutraceutical Phase 2
22 Tocotrienol Nutraceutical Phase 2
23 Alpha-lipoic Acid Nutraceutical Phase 2

Interventional clinical trials:


id Name Status NCT ID Phase
1 A Long-Term Extension Study of RP103-MITO-001 (NCT02023866) to Assess RP103 in Children With Inherited Mitochondrial Disease Completed NCT02473445 Phase 2
2 MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis Recruiting NCT02171104 Phase 2
3 MNGIE Allogeneic Hematopoietic Stem Cell Transplant Safety Study Recruiting NCT02427178 Phase 1
4 Identification of Large-Scale Mutations of POLG Gene by QMPSF in Patients With Mitochondrial DNA Instability. Unknown status NCT00831948
5 The Natural History Study of Mitochondrial NeuroGastroIntestinal Encephalopathy (MNGIE) Recruiting NCT01694953
6 North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC) Recruiting NCT01694940
7 Tissue Sample Study for Mitochondrial Disorders Enrolling by invitation NCT01803906

Search NIH Clinical Center for Mitochondrial Dna Depletion Syndrome 1

Genetic Tests for Mitochondrial Dna Depletion Syndrome 1

Genetic tests related to Mitochondrial Dna Depletion Syndrome 1:

id Genetic test Affiliating Genes
1 Mitochondrial Dna Depletion Syndrome 1 (mngie Type) 29

Anatomical Context for Mitochondrial Dna Depletion Syndrome 1

Publications for Mitochondrial Dna Depletion Syndrome 1

Variations for Mitochondrial Dna Depletion Syndrome 1

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

66
id Symbol AA change Variation ID SNP ID
1 TYMP p.Gly145Arg VAR_007643 rs121913037
2 TYMP p.Gly153Ser VAR_007644 rs121913038
3 TYMP p.Lys222Arg VAR_007645 rs149977726
4 TYMP p.Glu289Ala VAR_007646 rs121913036
5 TYMP p.Arg44Gln VAR_016777 rs28931613

ClinVar genetic disease variations for Mitochondrial Dna Depletion Syndrome 1:

6 (show top 50) (show all 75)
id Gene Variation Type Significance SNP ID Assembly Location
1 MT-TK m.8313G> A single nucleotide variant Pathogenic rs118192101 GRCh37 Chromosome MT, 8313: 8313
2 TYMP NM_001113755.2(TYMP): c.866A> C (p.Glu289Ala) single nucleotide variant Pathogenic rs121913036 GRCh37 Chromosome 22, 50965067: 50965067
3 TYMP NM_001257988.1(TYMP): c.418_516del single nucleotide variant Pathogenic rs797044454 GRCh38 Chromosome 22, 50528510: 50528510
4 TYMP NM_001113755.2(TYMP): c.433G> A (p.Gly145Arg) single nucleotide variant Pathogenic rs121913037 GRCh37 Chromosome 22, 50967024: 50967024
5 TYMP NM_001257988.1(TYMP): c.665A> G (p.Lys222Arg) single nucleotide variant Pathogenic rs149977726 GRCh37 Chromosome 22, 50965694: 50965694
6 TYMP NM_001257988.1(TYMP): c.1410dupC (p.Ser471Leufs) duplication Pathogenic rs786205097 GRCh37 Chromosome 22, 50964238: 50964238
7 TYMP NM_001953.4(TYMP): c.1160_1300del single nucleotide variant Pathogenic rs797044455 GRCh37 Chromosome 22, 50964571: 50964571
8 TYMP NM_001257988.1(TYMP): c.1193_1198delCGCTGG (p.Ala398_Leu399del) deletion Pathogenic rs786205098 GRCh37 Chromosome 22, 50964532: 50964537
9 TYMP NM_001113755.2(TYMP): c.457G> A (p.Gly153Ser) single nucleotide variant Pathogenic rs121913038 GRCh37 Chromosome 22, 50967000: 50967000
10 TYMP NM_001113755.2(TYMP): c.131G> A (p.Arg44Gln) single nucleotide variant Pathogenic rs28931613 GRCh37 Chromosome 22, 50968008: 50968008
11 TYMP NM_001953.4(TYMP): c.215_417del single nucleotide variant Pathogenic rs767245071 GRCh37 Chromosome 22, 50967768: 50967768
12 TYMP NM_001953.4(TYMP): c.622G> A (p.Val208Met) single nucleotide variant Pathogenic/Likely pathogenic rs121913039 GRCh37 Chromosome 22, 50966041: 50966041
13 TYMP NM_001113755.2(TYMP): c.931G> C (p.Gly311Arg) single nucleotide variant Pathogenic rs121913040 GRCh37 Chromosome 22, 50964903: 50964903
14 TYMP NM_001113755.2(TYMP): c.605G> C (p.Arg202Thr) single nucleotide variant Pathogenic rs121913041 GRCh37 Chromosome 22, 50966058: 50966058
15 TYMP NM_001113755.2(TYMP): c.854T> C (p.Leu285Pro) single nucleotide variant Pathogenic rs121913042 GRCh37 Chromosome 22, 50965079: 50965079
16 TYMP NM_001257989.1(TYMP): c.112G> T (p.Glu38Ter) single nucleotide variant Pathogenic rs1054084896 GRCh38 Chromosome 22, 50529598: 50529598
17 TYMP NM_001257989.1(TYMP): c.128A> C (p.Lys43Thr) single nucleotide variant Pathogenic rs752137335 GRCh38 Chromosome 22, 50529582: 50529582
18 TYMP NM_001257989.1(TYMP): c.146T> G (p.Leu49Arg) single nucleotide variant Pathogenic GRCh38 Chromosome 22, 50529564: 50529564
19 TYMP NM_001257989.1(TYMP): c.162C> G (p.Ile54Met) single nucleotide variant Pathogenic GRCh37 Chromosome 22, 50967977: 50967977
20 TYMP NM_001257989.1(TYMP): c.228G> A (p.Met76Ile) single nucleotide variant Pathogenic GRCh37 Chromosome 22, 50967754: 50967754
21 TYMP NM_001257989.1(TYMP): c.261G> C (p.Glu87Asp) single nucleotide variant Pathogenic rs749827433 GRCh38 Chromosome 22, 50529292: 50529292
22 TYMP NM_001257989.1(TYMP): c.261G> T (p.Glu87Asp) single nucleotide variant Pathogenic rs749827433 GRCh38 Chromosome 22, 50529292: 50529292
23 TYMP NM_001257989.1(TYMP): c.275C> A (p.Thr92Asn) single nucleotide variant Pathogenic rs891107196 GRCh37 Chromosome 22, 50967707: 50967707
24 TYMP NM_001257989.1(TYMP): c.328C> T (p.Gln110Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 22, 50967654: 50967654
25 TYMP NM_001257989.1(TYMP): c.340G> A (p.Asp114Asn) single nucleotide variant Pathogenic GRCh38 Chromosome 22, 50529213: 50529213
26 TYMP NM_001257989.1(TYMP): c.398T> C (p.Leu133Pro) single nucleotide variant Pathogenic GRCh38 Chromosome 22, 50529155: 50529155
27 TYMP NM_001257989.1(TYMP): c.401C> A (p.Ala134Glu) single nucleotide variant Pathogenic rs199901350 GRCh38 Chromosome 22, 50529152: 50529152
28 TYMP NM_001257988.1(TYMP): c.467A> G (p.Asp156Gly) single nucleotide variant Pathogenic GRCh38 Chromosome 22, 50528561: 50528561
29 TYMP NM_001257989.1(TYMP): c.478T> C (p.Ser160Pro) single nucleotide variant Pathogenic GRCh38 Chromosome 22, 50528550: 50528550
30 TYMP NM_001257988.1(TYMP): c.518T> G (p.Met173Arg) single nucleotide variant Pathogenic GRCh38 Chromosome 22, 50527716: 50527716
31 TYMP NM_001257989.1(TYMP): c.530T> C (p.Leu177Pro) single nucleotide variant Pathogenic GRCh37 Chromosome 22, 50966133: 50966133
32 TYMP NM_001257989.1(TYMP): c.605G> A (p.Arg202Lys) single nucleotide variant Pathogenic rs121913041 GRCh38 Chromosome 22, 50527629: 50527629
33 TYMP NM_001257989.1(TYMP): c.623T> G (p.Val208Gly) single nucleotide variant Pathogenic GRCh37 Chromosome 22, 50966040: 50966040
34 TYMP NM_001257988.1(TYMP): c.707T> C (p.Phe236Ser) single nucleotide variant Pathogenic GRCh37 Chromosome 22, 50965652: 50965652
35 TYMP NM_001257989.1(TYMP): c.715G> A (p.Ala239Thr) single nucleotide variant Pathogenic GRCh37 Chromosome 22, 50965644: 50965644
36 TYMP NM_001257988.1(TYMP): c.760A> C (p.Thr254Pro) single nucleotide variant Pathogenic GRCh38 Chromosome 22, 50527170: 50527170
37 TYMP NM_001257989.1(TYMP): c.847C> G (p.His283Asp) single nucleotide variant Pathogenic GRCh37 Chromosome 22, 50965086: 50965086
38 TYMP NM_001257988.1(TYMP): c.856G> A (p.Glu286Lys) single nucleotide variant Pathogenic rs866001342 GRCh37 Chromosome 22, 50965077: 50965077
39 TYMP NM_001257989.1(TYMP): c.865G> A (p.Glu289Lys) single nucleotide variant Pathogenic rs946234163 GRCh37 Chromosome 22, 50965068: 50965068
40 TYMP NM_001257988.1(TYMP): c.893G> A (p.Gly298Asp) single nucleotide variant Pathogenic GRCh37 Chromosome 22, 50965040: 50965040
41 TYMP NM_001257988.1(TYMP): c.931G> A (p.Gly311Ser) single nucleotide variant Pathogenic rs121913040 GRCh38 Chromosome 22, 50526474: 50526474
42 TYMP NM_001257988.1(TYMP): c.931G> T (p.Gly311Cys) single nucleotide variant Pathogenic rs121913040 GRCh37 Chromosome 22, 50964903: 50964903
43 TYMP NM_001257989.1(TYMP): c.938T> C (p.Leu313Pro) single nucleotide variant Pathogenic rs892141220 GRCh38 Chromosome 22, 50526467: 50526467
44 TYMP NM_001257989.1(TYMP): c.1067T> C (p.Leu356Pro) single nucleotide variant Pathogenic rs1060499532 GRCh37 Chromosome 22, 50964767: 50964767
45 TYMP NM_001257988.1(TYMP): c.1112T> C (p.Leu371Pro) single nucleotide variant Pathogenic rs1060499533 GRCh37 Chromosome 22, 50964722: 50964722
46 TYMP NM_001257988.1(TYMP): c.1159G> A (p.Gly387Ser) single nucleotide variant Pathogenic rs1060499534 GRCh38 Chromosome 22, 50526246: 50526246
47 TYMP NM_001257989.1(TYMP): c.1175G> A (p.Gly392Asp) single nucleotide variant Pathogenic GRCh37 Chromosome 22, 50964570: 50964570
48 TYMP NM_001257989.1(TYMP): c.1297G> A (p.Gly433Ser) single nucleotide variant Pathogenic GRCh38 Chromosome 22, 50526019: 50526019
49 TYMP NM_001257989.1(TYMP): c.1326G> A (p.Trp442Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 22, 50964337: 50964337
50 TYMP NM_001257989.1(TYMP): c.1375G> C (p.Ala459Pro) single nucleotide variant Pathogenic rs764275775 GRCh38 Chromosome 22, 50525859: 50525859

Expression for Mitochondrial Dna Depletion Syndrome 1

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

Pathways for Mitochondrial Dna Depletion Syndrome 1

GO Terms for Mitochondrial Dna Depletion Syndrome 1

Sources for Mitochondrial Dna Depletion Syndrome 1

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