Mitochondrial DNA depletion syndrome, encephalomyopathic form

MedGen UID:: 1637084
•Concept ID:: C4707428
•: Disease or Syndrome

Synonyms:	Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form; Mitochondrial DNA depletion syndrome encephalomyopathic form; mitochondrial DNA depletion syndrome, encephalomyopathic form; mtDNA depletion syndrome, encephalomyopathic form
SNOMED CT:	Mitochondrial DNA depletion syndrome encephalomyopathic form (765401006); Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (765401006)
Modes of inheritance:	Autosomal recessive inheritance MedGen UID: 141025 •Concept ID: C0441748 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Autosomal recessive inheritance (Orphanet)

Related genes: Gene(s) associated with related conditions. For conditions in a hierarchy, the parent condition will list the genes associated with the children conditions.	RRM2B, FBXL4, SUCLA2, SUCLG1

Monarch Initiative:	MONDO:0016796
Orphanet:	ORPHA254803

Definition

A group of mitochondrial DNA maintenance syndrome diseases with characteristics of predominantly neuromuscular manifestations with typically infantile onset of hypotonia, lactic acidosis, psychomotor delay, progressive hyperkinetic-dystonic movement disorders, external ophthalmoplegia, sensorineural hearing loss, seizures and variable renal tubular dysfunction. It may be associated with a broad range of other clinical features. [from SNOMEDCT_US]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVHereditary hearing loss and deafness

Hereditary hearing loss and deafness
- Mitochondrial disease
  - Mitochondrial DNA Deletion Syndromes
    - Mitochondrial DNA depletion syndrome, encephalomyopathic form

Recent clinical studies

Etiology

Coenzyme Q₁₀ deficiency in mitochondrial DNA depletion syndromes.

Montero R, Grazina M, López-Gallardo E, Montoya J, Briones P, Navarro-Sastre A, Land JM, Hargreaves IP, Artuch R; Coenzyme Q₁₀ Deficiency Study Group
Mitochondrion 2013 Jul;13(4):337-41. Epub 2013 Apr 11 doi: 10.1016/j.mito.2013.04.001. PMID: 23583954

Mitochondrial DNA depletion syndrome: new descriptions and the use of citrate synthase as a helpful tool to better characterise the patients.

Navarro-Sastre A, Tort F, Garcia-Villoria J, Pons MR, Nascimento A, Colomer J, Campistol J, Yoldi ME, López-Gallardo E, Montoya J, Unceta M, Martinez MJ, Briones P, Ribes A
Mol Genet Metab 2012 Nov;107(3):409-15. Epub 2012 Aug 31 doi: 10.1016/j.ymgme.2012.08.018. PMID: 22980518

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