MCID: MTC061
MIFTS: 22

Mitochondrial Dna Depletion Syndrome 1 malady

Genetic diseases (common) category

Aliases & Classifications for Mitochondrial Dna Depletion Syndrome 1

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Mitochondrial Dna Depletion Syndrome 1, Aliases & Descriptions:

Name: Mitochondrial Dna Depletion Syndrome 1 45 10
 
Thymidine Phosphorylase Deficiency 60


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


External Ids:

OMIM45 603041

Summaries for Mitochondrial Dna Depletion Syndrome 1

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OMIM:45 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 thymidine phosphorylase deficiency, is related to mitochondrial neurogastrointestinal encephalopathy disease and mitochondrial 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). The compounds cidofovir and dttp have been mentioned in the context of this disorder.

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:

idRelated DiseaseScoreTop Affiliating Genes
1mitochondrial neurogastrointestinal encephalopathy disease10.3TYMP
2mitochondrial encephalomyopathy10.3POLG
3ophthalmoplegia10.2TYMP
4lactic acidosis10.2POLG
5leigh syndrome10.2POLG
6chronic progressive external ophthalmoplegia10.0POLG, TYMP
7mitochondrial disorders10.0MT-TK

Graphical network of 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 26)
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 disorder 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

Drugs & Therapeutics for Mitochondrial Dna Depletion Syndrome 1

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Drug clinical trials:

Search ClinicalTrials for Mitochondrial Dna Depletion Syndrome 1

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:

62
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:

6
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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Compounds for genes affiliated with Mitochondrial Dna Depletion Syndrome 1

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Sources:
43Novoseek, 12DrugBank, 24HMDB, 49PharmGKB
See all sources

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

idCompoundScoreTop Affiliating Genes
1cidofovir43 1210.5POLG, TYMP
2dttp439.4POLG, TYMP
3deoxyguanosine43 2410.4POLG, TYMP
4zidovudine43 49 1211.3TYMP, POLG
5thymidine43 2410.3POLG, TYMP
6nucleoside439.2POLG, TYMP
7thymidylate439.0POLG, TYMP

GO Terms for genes affiliated with Mitochondrial Dna Depletion Syndrome 1

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Products for genes affiliated with Mitochondrial Dna Depletion Syndrome 1

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Mitochondrial Dna Depletion Syndrome 1

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet