MCID: MTC061
MIFTS: 19

Mitochondrial Dna Depletion Syndrome 1 malady

Genetic diseases (common) category
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Summaries for Mitochondrial Dna Depletion Syndrome 1

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MalaCards based summary: Mitochondrial Dna Depletion Syndrome 1 is related to mitochondrial neurogastrointestinal encephalopathy disease and kearns-sayre syndrome, and has symptoms including 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.

Description from OMIM:46 603041

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 46 62


Classifications:

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


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/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1mitochondrial neurogastrointestinal encephalopathy disease10.3TYMP
2kearns-sayre syndrome10.2TYMP
3lactic acidosis10.2POLG
4leigh disease10.2POLG
5chronic progressive external ophthalmoplegia10.0TYMP, POLG
6mitochondrial 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:

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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:

64
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 Name 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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Expression patterns in normal tissues for genes affiliated with Mitochondrial Dna Depletion Syndrome 1

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:
44Novoseek, 11DrugBank, 24HMDB, 50PharmGKB
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Compounds related to Mitochondrial Dna Depletion Syndrome 1 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1cidofovir44 1110.5POLG, TYMP
2dttp449.4POLG, TYMP
3deoxyguanosine44 2410.4POLG, TYMP
4zidovudine44 50 1111.3TYMP, POLG
5thymidine44 2410.3POLG, TYMP
6nucleoside449.2POLG, TYMP
7thymidylate449.0POLG, 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

Sources for Mitochondrial Dna Depletion Syndrome 1

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet