Mitochondrial Dna Depletion Syndrome 17 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Mitochondrial Dna Depletion Syndrome 17

MalaCards integrated aliases for Mitochondrial Dna Depletion Syndrome 17:

Name: Mitochondrial Dna Depletion Syndrome 17 ⁵⁷ ⁷³ ²⁹ ⁶

Mtdps17 ⁵⁷ ⁷³

Characteristics:

OMIM®:

⁵⁷ (Updated 05-Mar-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:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases
Anatomical: Neuronal diseases Eye diseases Liver diseases Nephrological diseases Gastrointestinal diseases Respiratory diseases Bone diseases Cardiovascular diseases Muscle diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM® ⁵⁷ 618567

OMIM Phenotypic Series ⁵⁷ PS603041

MeSH ⁴⁴ D028361

MedGen ⁴¹ C5231412 CN262227

SNOMED-CT via HPO ⁶⁸ 224958001 241006 258211005 more

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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, and related phenotypes are chorea and global developmental delay

More information from OMIM: 618567 PS603041

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Related Diseases for Mitochondrial Dna Depletion Syndrome 17

Diseases in the Mitochondrial Dna Depletion Syndrome family:

Mitochondrial Dna Depletion Syndrome 4a	Mitochondrial Dna Depletion Syndrome 9
Mitochondrial Dna Depletion Syndrome 3	Mitochondrial Dna Depletion Syndrome 6
Mitochondrial Dna Depletion Syndrome 7	Mitochondrial Dna Depletion Syndrome 1
Mitochondrial Dna Depletion Syndrome 2	Mitochondrial Dna Depletion Syndrome 5
Mitochondrial Dna Depletion Syndrome 8a	Mitochondrial Dna Depletion Syndrome 4b
Mitochondrial Dna Depletion Syndrome 11	Mitochondrial Dna Depletion Syndrome 12b , Autosomal Recessive
Mitochondrial Dna Depletion Syndrome 13	Mitochondrial Dna Depletion Syndrome 14
Mitochondrial Dna Depletion Syndrome 15	Mitochondrial Dna Depletion Syndrome 12a , Autosomal Dominant
Mitochondrial Dna Depletion Syndrome 16	Mitochondrial Dna Depletion Syndrome 17
Mitochondrial Dna Depletion Syndrome 18	Mitochondrial Dna Depletion Syndrome 19
Mitochondrial Dna Depletion Syndrome 12a	Mitochondrial Dna Depletion Syndrome 12b
Mitochondrial Dna Deletion Syndromes	Multiple Mitochondrial Dna Deletion Syndrome

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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 05-Mar-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 05-Mar-2021)

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Drugs & Therapeutics for Mitochondrial Dna Depletion Syndrome 17

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

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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

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Anatomical Context for Mitochondrial Dna Depletion Syndrome 17

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

⁴⁰

Liver

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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. ⁵⁷ ⁶	Garone C...Minczuk M	28973171	2017

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Genes for Mitochondrial Dna Depletion Syndrome 17

Genes related to Mitochondrial Dna Depletion Syndrome 17 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	MRM2	Mitochondrial RRNA Methyltransferase 2	Protein Coding	1367.52	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷³ Genetic Tests ²⁹ Unconfirmed association ⁵⁷ GeneCards inferred via : Disorders Variants (show sections)	28973171

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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>A	SNV	Pathogenic	689394	rs1584622847	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

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Expression for Mitochondrial Dna Depletion Syndrome 17

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

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Pathways for Mitochondrial Dna Depletion Syndrome 17

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GO Terms for Mitochondrial Dna Depletion Syndrome 17

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Sources for Mitochondrial Dna Depletion Syndrome 17

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⁷⁴ Wikipedia

Mitochondrial Dna Depletion Syndrome 17 (MTDPS17)

Aliases & Classifications for Mitochondrial Dna Depletion Syndrome 17

MalaCards integrated aliases for Mitochondrial Dna Depletion Syndrome 17:

Characteristics:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Mitochondrial Dna Depletion Syndrome 17

Related Diseases for Mitochondrial Dna Depletion Syndrome 17

Diseases in the Mitochondrial Dna Depletion Syndrome family:

Symptoms & Phenotypes for Mitochondrial Dna Depletion Syndrome 17

Human phenotypes related to Mitochondrial Dna Depletion Syndrome 17:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

Drugs & Therapeutics for Mitochondrial Dna Depletion Syndrome 17

Genetic Tests for Mitochondrial Dna Depletion Syndrome 17

Genetic tests related to Mitochondrial Dna Depletion Syndrome 17:

Anatomical Context for Mitochondrial Dna Depletion Syndrome 17

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

Publications for Mitochondrial Dna Depletion Syndrome 17

Articles related to Mitochondrial Dna Depletion Syndrome 17:

Genes for Mitochondrial Dna Depletion Syndrome 17

Genes related to Mitochondrial Dna Depletion Syndrome 17 (1 elite genes):

Variations for Mitochondrial Dna Depletion Syndrome 17

ClinVar genetic disease variations for Mitochondrial Dna Depletion Syndrome 17:

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

Expression 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