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mitochondrial DNA depletion syndrome 8a

The information provided on this page is for informational purposes only. The National Organization for Rare Disorders (NORD) does not endorse the information presented. The content has been gathered in partnership with the MONDO Disease Ontology. Please consult with a healthcare professional for medical advice and treatment.

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Disease Overview

Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the RRM2B gene.

Synonyms

  • MTDPS8A
  • Mngie, Rrm2B-related
  • RRM2B mitochondrial DNA depletion syndrome
  • RRM2B-related mitochondrial DNA depletion syndrome
  • encephalomyopathic type with renal tubulopathy
  • mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)
  • mitochondrial DNA depletion syndrome 8B (Mngie type)
  • mitochondrial DNA depletion syndrome caused by mutation in RRM2B
  • mitochondrial DNA depletion syndrome type 8a
  • mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy
  • mitochondrial DNA depletion syndrome, encephalomyopathic, with renal tubulopathy, autosomal recessive
  • mitochondrial neurogastrointestinal encephalopathy syndrome, Rrm2B-related
  • mtDNA depletion syndrome, encephalomyopathic form with renal tubulopathy
GARD Disease Summary

The Genetic and Rare Diseases Information Center (GARD) has information and resources for patients, caregivers, and families that may be helpful before and after diagnosis of this condition. GARD is a program of the National Center for Advancing Translational Sciences (NCATS), part of the National Institutes of Health (NIH).

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Orphanet

Orphanet has a summary about this condition that may include information on the diagnosis, care, and treatment as well as other resources. Some of the information and resources are available in languages other than English. The summary may include medical terms, so we encourage you to share and discuss this information with your doctor. Orphanet is the French National Institute for Health and Medical Research and the Health Programme of the European Union.

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OMIM

Online Mendelian Inheritance In Man (OMIM) has a summary of published research about this condition and includes references from the medical literature. The summary contains medical and scientific terms, so we encourage you to share and discuss this information with your doctor. OMIM is authored and edited at the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine.

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GeneReviews

GeneReviews has an article on this condition covering diagnosis, management, and inheritance. Each article is written by one or more experts on the specific disease and is reviewed by other specialists. The article contains medical and scientific terms, so we encourage you to share and discuss this information with your doctor. The GeneReviews database is managed by the University of Washington.

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MedlinePlus

MedlinePlus has information about this condition that may include a description, frequency, causes, inheritance, and links to more information. The information is written for the public, including patients, caregivers and families. MedlinePlus is a service of the National Library of Medicine (NLM), which is part of the National Institutes of Health (NIH).

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