MTDPS17
MCID: MTC200
MIFTS: 20

Mitochondrial Dna Depletion Syndrome 17 (MTDPS17)

Categories: Bone diseases, Cardiovascular diseases, Eye diseases, Gastrointestinal diseases, Genetic diseases, Liver diseases, Metabolic diseases, Muscle diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Mitochondrial Dna Depletion Syndrome 17

MalaCards integrated aliases for Mitochondrial Dna Depletion Syndrome 17:

Name: Mitochondrial Dna Depletion Syndrome 17 57 72 29 6
Mtdps17 57 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
progressive disease
no response to levodopa and carbidopa treatment
onset in infancy (8 months)
death in childhood (age 7)
one boy of italian parentage has been reported (last curated september 2019)


HPO:

31
mitochondrial dna depletion syndrome 17:
Inheritance autosomal recessive inheritance
Onset and clinical course death in childhood


Classifications:



Summaries for Mitochondrial Dna Depletion Syndrome 17

UniProtKB/Swiss-Prot : 72 Mitochondrial DNA depletion syndrome 17: An autosomal recessive mitochondrial disorder characterized by childhood onset of rapidly progressive encephalopathy, stroke-like episodes, lactic acidosis, hypocitrullinemia, multiple defects of oxidative phosphorylation, mitochondrial complex I and IV deficiency, and reduced mtDNA copy number.

MalaCards based summary : Mitochondrial Dna Depletion Syndrome 17, is also known as mtdps17. An important gene associated with Mitochondrial Dna Depletion Syndrome 17 is MRM2 (Mitochondrial RRNA Methyltransferase 2). Affiliated tissues include eye and liver, and related phenotypes are chorea and global developmental delay

More information from OMIM: 618567 PS603041

Symptoms & Phenotypes for Mitochondrial Dna Depletion Syndrome 17

Human phenotypes related to Mitochondrial Dna Depletion Syndrome 17:

31 (show all 14)
# Description HPO Frequency HPO Source Accession
1 chorea 31 very rare (1%) HP:0002072
2 global developmental delay 31 very rare (1%) HP:0001263
3 dyskinesia 31 very rare (1%) HP:0100660
4 hemiballismus 31 very rare (1%) HP:0100248
5 hepatic failure 31 very rare (1%) HP:0001399
6 hyperammonemia 31 very rare (1%) HP:0001987
7 decreased activity of mitochondrial complex i 31 very rare (1%) HP:0011923
8 cerebellar atrophy 31 very rare (1%) HP:0001272
9 spastic tetraparesis 31 very rare (1%) HP:0001285
10 cerebral atrophy 31 very rare (1%) HP:0002059
11 acidosis 31 very rare (1%) HP:0001941
12 low plasma citrulline 31 very rare (1%) HP:0003572
13 epilepsia partialis continua 31 very rare (1%) HP:0012847
14 decreased activity of mitochondrial complex iv 31 very rare (1%) HP:0008347

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
chorea
cerebellar atrophy
epilepsia partialis continua
developmental delay
spastic quadriparesis
more
Abdomen Liver:
liver failure

Metabolic Features:
mixed acidosis

Laboratory Abnormalities:
hyperammonemia
low levels of citrulline

Muscle Soft Tissue:
rhabdomyolysis (triggered by infection)
multiple oxphos defects
complex i and iv deficiency
40% reduction of mtdna copy number seen on muscle biopsy

Clinical features from OMIM®:

618567 (Updated 20-May-2021)

Drugs & Therapeutics for Mitochondrial Dna Depletion Syndrome 17

Search Clinical Trials , NIH Clinical Center for Mitochondrial Dna Depletion Syndrome 17

Genetic Tests for Mitochondrial Dna Depletion Syndrome 17

Genetic tests related to Mitochondrial Dna Depletion Syndrome 17:

# Genetic test Affiliating Genes
1 Mitochondrial Dna Depletion Syndrome 17 29 MRM2

Anatomical Context for Mitochondrial Dna Depletion Syndrome 17

MalaCards organs/tissues related to Mitochondrial Dna Depletion Syndrome 17:

40
Eye, Liver

Publications for Mitochondrial Dna Depletion Syndrome 17

Articles related to Mitochondrial Dna Depletion Syndrome 17:

# Title Authors PMID Year
1
Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome. 6 57
28973171 2017

Variations for Mitochondrial Dna Depletion Syndrome 17

ClinVar genetic disease variations for Mitochondrial Dna Depletion Syndrome 17:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MRM2 NM_013393.3(MRM2):c.565G>A SNV Pathogenic 689394 rs1584622847 GRCh37: 7:2274933-2274933
GRCh38: 7:2235298-2235298

UniProtKB/Swiss-Prot genetic disease variations for Mitochondrial Dna Depletion Syndrome 17:

72
# Symbol AA change Variation ID SNP ID
1 MRM2 p.Gly189Arg VAR_083280

Expression for Mitochondrial Dna Depletion Syndrome 17

Search GEO for disease gene expression data for Mitochondrial Dna Depletion Syndrome 17.

Pathways for Mitochondrial Dna Depletion Syndrome 17

GO Terms for Mitochondrial Dna Depletion Syndrome 17

Sources for Mitochondrial Dna Depletion Syndrome 17

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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