MTDPS17
MCID: MTC200
MIFTS: 17

Mitochondrial Dna Depletion Syndrome 17 (MTDPS17)

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

Aliases & Classifications for Mitochondrial Dna Depletion Syndrome 17

MalaCards integrated aliases for Mitochondrial Dna Depletion Syndrome 17:

Name: Mitochondrial Dna Depletion Syndrome 17 56 73 6
Mtdps17 56 73

Characteristics:

OMIM:

56
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)


Classifications:



External Ids:

OMIM 56 618567
OMIM Phenotypic Series 56 PS603041
MeSH 43 D028361
MedGen 41 CN262227

Summaries for Mitochondrial Dna Depletion Syndrome 17

UniProtKB/Swiss-Prot : 73 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 liver.

More information from OMIM: 618567 PS603041

Symptoms & Phenotypes for Mitochondrial Dna Depletion Syndrome 17

Symptoms via clinical synopsis from OMIM:

56
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

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

Anatomical Context for Mitochondrial Dna Depletion Syndrome 17

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

40
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 56
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 GRCh37 Pos GRCh38 Pos
1 MRM2 NM_013393.3(MRM2):c.565G>ASNV Pathogenic 689394 7:2274933-2274933 7:2235298-2235298

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

73
# 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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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