Mitochondrial Dna Depletion Syndrome 8a (MTDPS8A)

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Disease Ontology 12 DOID:0070331 DOID:0080127 OMIM® 57 612075 OMIM Phenotypic Series 57 PS603041 MeSH 44 C536350 D017237 ICD10 via Orphanet 33 G31.8

Orphanet 58 ORPHA255235 MedGen 41 C2749861 C2749862 C3150172 CN187502 more SNOMED-CT via HPO 68 128613002 190882007 19373007 228156007 238108007 246545002 247578003 25136009 252157006 255314001 258211005 285384003 313307000 35912001 36440009 432788009 46252003 78164000 84757009 91138005 91175000 91273001 more UMLS 71 C2749861 C3150172 C3711125

MedlinePlus Genetics : ⁴³ RRM2B-related mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy (RRM2B-MDS) is a severe condition that begins in infancy and affects multiple body systems. It is associated with brain dysfunction combined with muscle weakness (encephalomyopathy). Many affected individuals also have a kidney dysfunction known as renal tubulopathy.Infants with RRM2B-MDS have weak muscle tone (hypotonia) and a failure to grow or gain weight at the expected rate (failure to thrive). Many have a smaller-than-normal head size (microcephaly). Due to muscle weakness, affected infants typically have difficulty controlling head movement and may have delayed development of other motor skills, such as rolling over or sitting. Weakness of the muscles used for breathing leads to serious breathing difficulties and can result in life-threatening respiratory failure. Most affected infants have a buildup of a chemical called lactic acid in the body (lactic acidosis), which can also be life-threatening.Some individuals with RRM2B-MDS have a digestion problem known as gastrointestinal dysmotility, in which the muscles and nerves of the digestive system do not move food through the digestive tract efficiently. This disorder may lead to swallowing difficulties, vomiting, and diarrhea and can contribute to a failure to thrive. Less commonly, individuals with RRM2B-MDS develop seizures or hearing loss that is caused by nerve damage in the inner ear (sensorineural hearing loss).Because of the severity of the signs and symptoms, people with RRM2B-MDS usually live only into early childhood.

MalaCards based summary : Mitochondrial Dna Depletion Syndrome 8a, also known as mitochondrial dna depletion syndrome 8b, is related to visceral myopathy, familial, with external ophthalmoplegia and mitochondrial dna depletion syndrome 4b, and has symptoms including seizures, cachexia and gait ataxia. An important gene associated with Mitochondrial Dna Depletion Syndrome 8a is RRM2B (Ribonucleotide Reductase Regulatory TP53 Inducible Subunit M2B). Related phenotypes are intellectual disability and failure to thrive

Disease Ontology : ¹² A mitochondrial DNA depletion syndrome that is characterized by neonatal hypotonia, lactic acidosis, and neurologic deterioration, and has material basis in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the ribonucleotide reductase regulatory TP53 inducible subunit M2B gene on chromosome 8q22.

OMIM® : ⁵⁷ Mitochondrial DNA depletion syndrome-8A is a severe autosomal recessive disorder characterized by neonatal hypotonia, lactic acidosis, and neurologic deterioration. Renal tubular involvement may also occur (Bourdon et al., 2007). Mitochondrial DNA depletion syndrome-8B is characterized by ophthalmoplegia, ptosis, gastrointestinal dysmotility, cachexia, peripheral neuropathy, and brain MRI changes, known as the MNGIE phenotype (Shaibani et al., 2009). For a discussion of genetic heterogeneity of mtDNA depletion syndromes, see MTDPS1 (603041). (612075) (Updated 05-Mar-2021)

UniProtKB/Swiss-Prot : ⁷³ Mitochondrial DNA depletion syndrome 8A: A disorder due to mitochondrial dysfunction characterized by various combinations of neonatal hypotonia, neurological deterioration, respiratory distress, lactic acidosis, and renal tubulopathy.
Mitochondrial DNA depletion syndrome 8B: A disease due to mitochondrial dysfunction and characterized by ophthalmoplegia, ptosis, gastrointestinal dysmotility, cachexia, peripheral neuropathy.

Clinical features from OMIM®:

612075 (Updated 05-Mar-2021)

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