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1.

Mitochondrial DNA depletion syndrome 9

SUCLG1-related mitochondrial DNA (mtDNA) depletion syndrome, encephalomyopathic form with methylmalonic aciduria is characterized in the majority of affected newborns by hypotonia, muscle atrophy, feeding difficulties, and lactic acidosis. Affected infants commonly manifest developmental delay / cognitive impairment, growth retardation / failure to thrive, hepatopathy, sensorineural hearing impairment, dystonia, and hypertonia. Notable findings in some affected individuals include hypertrophic cardiomyopathy, epilepsy, myoclonus, microcephaly, sleep disturbance, rhabdomyolysis, contractures, hypothermia, and/or hypoglycemia. Life span is shortened, with median survival of 20 months. [from GeneReviews]

MedGen UID:
462826
Concept ID:
C3151476
Disease or Syndrome
2.

Mitochondrial DNA depletion syndrome, myopathic form

TK2-related mitochondrial DNA (mtDNA) maintenance defect is a phenotypic continuum that ranges from severe to mild. To date, approximately 107 individuals with a molecularly confirmed diagnosis have been reported. Three main subtypes of presentation have been described: Infantile-onset myopathy with neurologic involvement and rapid progression to early death. Affected individuals experience progressive muscle weakness leading to respiratory failure. Some individuals develop dysarthria, dysphagia, and/or hearing loss. Cognitive function is typically spared. Juvenile/childhood onset with generalized proximal weakness and survival to at least 13 years. Late-/adult-onset myopathy with facial and limb weakness and mtDNA deletions. Some affected individuals develop respiratory insufficiency, chronic progressive external ophthalmoplegia, dysphagia, and dysarthria. [from GeneReviews]

MedGen UID:
461100
Concept ID:
C3149750
Disease or Syndrome
3.

Sengers syndrome

Sengers syndrome is an autosomal recessive mitochondrial disorder characterized by congenital cataracts, hypertrophic cardiomyopathy, skeletal myopathy, exercise intolerance, and lactic acidosis. Mental development is normal, but affected individuals may die early from cardiomyopathy (summary by Mayr et al., 2012). Skeletal muscle biopsies of 2 affected individuals showed severe mtDNA depletion (Calvo et al., 2012). [from OMIM]

MedGen UID:
395228
Concept ID:
C1859317
Disease or Syndrome
4.

Mitochondrial DNA depletion syndrome 4b

POLG-related disorders comprise a continuum of overlapping phenotypes that were clinically defined long before their molecular basis was known. Most affected individuals have some, but not all, of the features of a given phenotype; nonetheless, the following nomenclature can assist the clinician in diagnosis and management. Onset of the POLG-related disorders ranges from infancy to late adulthood. Alpers-Huttenlocher syndrome (AHS), one of the most severe phenotypes, is characterized by childhood-onset progressive and ultimately severe encephalopathy with intractable epilepsy and hepatic failure. Childhood myocerebrohepatopathy spectrum (MCHS) presents between the first few months of life and about age three years with developmental delay or dementia, lactic acidosis, and a myopathy with failure to thrive. Other findings can include liver failure, renal tubular acidosis, pancreatitis, cyclic vomiting, and hearing loss. Myoclonic epilepsy myopathy sensory ataxia (MEMSA) now describes the spectrum of disorders with epilepsy, myopathy, and ataxia without ophthalmoplegia. MEMSA now includes the disorders previously described as spinocerebellar ataxia with epilepsy (SCAE). The ataxia neuropathy spectrum (ANS) includes the phenotypes previously referred to as mitochondrial recessive ataxia syndrome (MIRAS) and sensory ataxia neuropathy dysarthria and ophthalmoplegia (SANDO). About 90% of persons in the ANS have ataxia and neuropathy as core features. Approximately two thirds develop seizures and almost one half develop ophthalmoplegia; clinical myopathy is rare. Autosomal recessive progressive external ophthalmoplegia (arPEO) is characterized by progressive weakness of the extraocular eye muscles resulting in ptosis and ophthalmoparesis (or paresis of the extraocular muscles) without associated systemic involvement; however, caution is advised because many individuals with apparently isolated arPEO at the onset develop other manifestations of POLG-related disorders over years or decades. Of note, in the ANS spectrum the neuropathy commonly precedes the onset of PEO by years to decades. Autosomal dominant progressive external ophthalmoplegia (adPEO) typically includes a generalized myopathy and often variable degrees of sensorineural hearing loss, axonal neuropathy, ataxia, depression, parkinsonism, hypogonadism, and cataracts (in what has been called "chronic progressive external ophthalmoplegia plus," or "CPEO+"). [from GeneReviews]

MedGen UID:
462264
Concept ID:
C3150914
Disease or Syndrome
5.

Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3

Any autosomal recessive progressive external ophthalmoplegia in which the cause of the disease is a mutation in the TK2 gene. [from MONDO]

MedGen UID:
934701
Concept ID:
C4310734
Disease or Syndrome
6.

Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant

MTDPS12A is characterized by severe hypotonia due to mitochondrial dysfunction apparent at birth. Affected infants have respiratory insufficiency requiring mechanical ventilation and have poor or no motor development. Many die in infancy, and those that survive have profound hypotonia with significant muscle weakness and inability to walk independently. Some patients develop hypertrophic cardiomyopathy. Muscle samples show mtDNA depletion and severe combined mitochondrial respiratory chain deficiencies (summary by Thompson et al., 2016). For a discussion of genetic heterogeneity of mtDNA depletion syndromes, see MTDPS1 (603041). [from OMIM]

MedGen UID:
934643
Concept ID:
C4310676
Disease or Syndrome
7.

Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)

Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the OPA1 gene. [from MONDO]

MedGen UID:
903789
Concept ID:
C4225163
Disease or Syndrome
8.

Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)

Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the TFAM gene. [from MONDO]

MedGen UID:
934657
Concept ID:
C4310690
Disease or Syndrome
9.

Combined oxidative phosphorylation deficiency 22

MedGen UID:
863499
Concept ID:
C4015062
Disease or Syndrome
10.

Mitochondrial DNA depletion syndrome 16 (hepatic type)

MedGen UID:
1684495
Concept ID:
C5193142
Disease or Syndrome
11.

Microcephaly, growth restriction, and increased sister chromatid exchange 2

MGRISCE2 is an autosomal recessive disorder characterized by intrauterine growth restriction, poor postnatal growth with short stature and microcephaly, and increased sister chromatid exchange on cell studies. The disorder results from defective DNA decatenation. The pathogenesis of the disorder is similar to that of Bloom syndrome (BLM; 210900), but patients with mutations in the TOP3A gene do not have a malar rash (summary by Martin et al., 2018). For a discussion of genetic heterogeneity of MGRISCE, see Bloom syndrome (BLM; MGRISCE1; 210900) [from OMIM]

MedGen UID:
1648384
Concept ID:
C4748176
Disease or Syndrome
12.

Mitochondrial DNA depletion syndrome 19

MedGen UID:
1770258
Concept ID:
C5436514
Disease or Syndrome
13.

Depletion of mitochondrial DNA in muscle tissue

MedGen UID:
867163
Concept ID:
C4021521
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